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1. Neue Strukturen des Deutschen Konsortiums Familiärer Brust- und Eierstockkrebs

Author

Marion Kiechle, Sven Mahner, G. Emons, Claus R. Bartram, O. Riess, Rita K. Schmutzler, N Maass, Kerstin Rhiem, C Solbach, I Witzel, Dieter Niederacher, K Kast, J Lemke, B Schlegelberger, Olaf Ortmann, T Haaf, Ulrich Bick, W Janni, and P Wieacker

Subjects
03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, 030212 general & internal medicine
Published
2018
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2. Genetics of Deafness

Author

B. Vona, T. Haaf, B. Vona, and T. Haaf

Subjects
Deafness--Genetic aspects
Abstract

Genetics of Deafness offers a journey through areas crucial for understanding the causes and effects of hearing loss. It covers such topics as the latest approaches in diagnostics and deafness research and the current status and future promise of gene therapy for hearing restoration. The book begins by bringing attention to how hearing loss affects the individual and society. Methods of hearing loss detection and management throughout the lifespan are highlighted as is a particularly new development in newborn hearing screening. The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. Additional topics include current research interests, ranging from novel gene identification to their functional validation in the mouse and zebrafish. The book ends with a chapter on the state of the art of gene therapy—an area that is certain to gain increasing attention as molecular mechanisms of deafness are better understood. Genetics of Deafness, written by leading authors in the field, is a must read for clinicians, researchers, and students. It provides much needed insight into the diagnosis and research of hereditary hearing loss.

Published
2016

3. Appendices

Author

M. Schmid, C. Steinlein, J.P. Bogart, W. Feichtinger, T. Haaf, I. Nanda, E.M. del Pino, W.E. Duellman, and S.B. Hedges

Subjects
Genetics, Molecular Biology, Genetics (clinical)
Published
2012
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4. Materials and Methods

Author

M. Schmid, C. Steinlein, J.P. Bogart, W. Feichtinger, T. Haaf, I. Nanda, E.M. del Pino, W.E. Duellman, and S.B. Hedges

Subjects
Genetics, Molecular Biology, Genetics (clinical)
Published
2012
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5. References

Author

M. Schmid, C. Steinlein, J.P. Bogart, W. Feichtinger, T. Haaf, I. Nanda, E.M. del Pino, W.E. Duellman, and S.B. Hedges

Subjects
Genetics, Molecular Biology, Genetics (clinical)
Published
2012
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6. Species Index

Author

M. Schmid, C. Steinlein, J.P. Bogart, W. Feichtinger, T. Haaf, I. Nanda, E.M. del Pino, W.E. Duellman, and S.B. Hedges

Subjects
Genetics, Molecular Biology, Genetics (clinical)
Published
2012
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7. Introduction

Author

M. Schmid, C. Steinlein, J.P. Bogart, W. Feichtinger, T. Haaf, I. Nanda, E.M. del Pino, W.E. Duellman, and S.B. Hedges

Subjects
Genetics, Molecular Biology, Genetics (clinical)
Published
2012
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8. Contents Vol. 132, 2011

Author

F. Schaller, M.G. González-Mercado, L.A.C. Bertollo, C. Flora, A. Scheffer, U. Zechner, P.R. Papenhausen, S. Kubickova, J. Vahala, X. Xu, W. Nie, S. Knebel, H. Cernohorska, A.P. Santos, L.S. Rector, J. Ibrahim, W. Schempp, V.M. Aniskin, M. Bianchini, G. Raca, Y.M. Kovalskaya, I. Larripa, L. Bruhn, G. Alfonso, B. Peter, P. Tsang, H.A. García-Castillo, S. Schwartz, A.V. Surov, A. Tsalenko, E. Dwyer, H. Rivera, C. Wrenzycki, N.A. Yamada, H. Niemann, V.T. Volobouev, J. Heinzmann, A.R. Brothman, E. Kejnovsky, D.A.D. Thi, Druck Reinhardt Druck Basel, C. Belli, L. Ferreira, N. Sampas, I.A. Tikhonov, M.E. Aston, I.P. Dávalos, M.F. Alú, L. Huang, G.N. Tikhonova, F. Yang, A.I. Vásquez-Velásquez, P.L. Bogomolov, J.J. Pasantes, M.C. Sederberg, M.M. Oliveira, R.A. Ach, R.D. Burnside, E. Carr, M. Jing, J. Rubes, M.B. Cioffi, Satz Mengensatzproduktion, J. Maroco, P.E. Warburton, T. Hansmann, T. Haaf, J.H. Tepperberg, and T.J. Robinson

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2011
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9. POSTER VIEWING SESSION - REPRODUCTIVE (EPI) GENETICS

Author

B. Acar-Perk, J. Weimer, K. Koch, A. Salmassi, N. Arnold, L. Mettler, A. G. Schmutzler, C. S. Ottolini, D. K. Griffin, A. H. Handyside, M. C. Summers, A. R. Thornhill, D. Montjean, M. Benkhalifa, P. Cohen-Bacrie, J. P. Siffroi, J. Mandelbaum, I. Berthaut, A. Bashamboo, C. Ravel, K. McElreavey, A. Ao, X. Y. Zhang, A. Yilmaz, J. T. Chung, E. Demirtas, W. Y. Son, M. Dahan, W. Buckett, H. Holzer, S. L. Tan, A. Perheentupa, M. Vierula, N. Jorgensen, N. E. Skakkebaek, S. Chantot-Bastaraud, J. Toppari, L. Muzii, M. C. Magli, L. Gioia, M. Mattioli, A. P. Ferraretti, L. Gianaroli, I. Koscinski, E. Elinati, C. Fossard, P. Kuentz, Z. Kilani, A. Demirol, T. Gurgan, F. Schmitt, J. Velez de la Calle, N. Iqbal, N. Louanjli, M. Pasquier, F. Carre-Pigeon, J. Muller, C. Barratt, S. Viville, C. Magli, C. Grugnetti, E. Castelletti, B. Paviglianiti, L. Pepas, P. Braude, J. Grace, V. Bolton, Y. Khalaf, T. El-Toukhy, I. Galeraud-Denis, H. Bouraima, L. Sibert, N. Rives, S. Carreau, F. Janse, L. M. de With, B. C. J. M. Fauser, C. B. Lambalk, J. S. E. Laven, A. J. Goverde, J. C. Giltay, V. De Leo, L. Governini, A. Quagliariello, M. A. Margollicci, P. Piomboni, A. Luddi, H. Miyamura, H. Nishizawa, S. Ota, M. Suzuki, A. Inagaki, H. Egusa, S. Nishiyama, T. Kato, I. Nakanishi, T. Fujita, Y. Imayoshi, A. Markoff, I. Yanagihara, Y. Udagawa, H. Kurahashi, B. Alvaro Mercadal, R. Imbert, I. Demeestere, A. De Leener, Y. Englert, S. Costagliola, A. Delbaere, E. Velilla, A. Colomar, E. Toro, S. Chamosa, J. Alvarez, M. Lopez-Teijon, S. Fernandez, Y. Hosoda, A. Hasegawa, N. Morimoto, Y. Wakimoto, Y. Ito, S. Komori, L. Sati, C. Zeiss, R. Demir, J. McGrath, S. Y. Ku, Y. J. Kim, Y. Y. Kim, H. J. Kim, K. E. Park, S. H. Kim, Y. M. Choi, S. Y. Moon, A. Minor, V. Chow, S. Ma, E. Martinez Mendez, M. Gaytan, A. Linan, A. Pacheco, M. San Celestino, C. Nogales, M. Ariza, D. Cernuda, F. Bronet, A. M. Lendinez Ramirez, A. R. Palomares, B. Perez-Nevot, V. Urraca, A. Ruiz Martin, A. Reche, M. Ruiz Galdon, A. Reyes-Engel, N. R. Treff, X. Tao, D. Taylor, B. Levy, K. M. Ferry, R. T. Scott Jr., S. Vasan, K. K. Acharya, B. Vasan, R. Yalaburgi, K. K. Ganesan, S. C. Darshan, C. H. Neelima, P. Deepa, B. Akhilesh, D. Sravanthi, K. S. Sreelakshmi, H. Deepti, J. H. van Doorninck, C. Eleveld, M. van der Hoeven, E. Birnie, E. A. P. Steegers, R. J. Galjaard, I. M. van den Berg, F. Fiorentino, L. Spizzichino, S. Bono, A. Biricik, G. Kokkali, L. Rienzi, F. M. Ubaldi, E. Iammarrone, A. Gordon, K. Pantos, E. Oitmaa, A. Tammiste, S. Suvi, M. Punab, M. Remm, A. Metspalu, A. Salumets, L. Rodrigo, P. Mir, A. Cervero, E. Mateu, A. Mercader, C. Vidal, J. Giles, J. Remohi, A. Pellicer, J. Martin, C. Rubio, H. Mozdarani, S. Moghbeli Nejad, M. Behmanesh, A. Alleyasin, H. Ghedir, S. Ibala-Romdhane, O. Mamai, S. Brahem, H. Elghezal, M. Ajina, M. Gribaa, A. Saad, M. C. Martinez, V. Peinado, M. Milan, N. Al-Asmar, P. Buendia, A. Delgado, L. Escrich, B. Amorocho, C. Simon, L. Petrussa, H. Van de Velde, N. De Munck, M. De Rycke, S. Altmae, J. A. Martinez-Conejero, F. J. Esteban, M. Ruiz-Alonso, A. Stavreus-Evers, J. A. Horcajadas, B. Bug, G. Raabe-Meyer, U. Bender, J. Zimmer, B. Schulze, P. H. Vogt, T. Laisk, M. Peters, V. Grabar, A. Feskov, E. Zhilkova, N. Sugawara, M. Maeda, T. Seki, T. Manome, R. Nagai, Y. Araki, I. Georgiou, L. Lazaros, N. Xita, A. Chatzikyriakidou, A. Kaponis, N. Grigoriadis, E. Hatzi, I. Grigoriadis, N. Sofikitis, K. Zikopoulos, M. Gunn, P. R. Brezina, A. Benner, L. Du, W. G. Kearns, X. Shen, C. Zhou, Y. Xu, Y. Zhong, Y. Zeng, G. Zhuang, M. C. Gunn, K. Richter, P. Andreeva, I. Dimitrov, M. Konovalova, S. Kyurkchiev, A. Shterev, A. Daser, E. Day, H. Turley, A. Immesberger, T. Haaf, T. Hahn, P. H. Dear, M. Schorsch, J. Don, N. Golan, T. Eldar, and R. Yaverboim

Subjects
03 medical and health sciences, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, 0302 clinical medicine, Reproductive Medicine, business.industry, Rehabilitation, medicine, Obstetrics and Gynecology, Medical physics, Session (computer science), business
Published
2011
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10. Imprintingstörungen in der Reproduktionsmedizin

Author

T. Haaf

Subjects
Gynecology, medicine.medical_specialty, Genetics, medicine, Biology, Genetics (clinical)
Abstract

Zusammenfassung Stochastische, Umwelt- und/oder genetisch bedingte Fehler (Epimutationen) bei der Genomreprogrammierung in den Keimzellen und unmittelbar nach der Befruchtung sind eine wichtige Quelle für phänotypische Variation und Krankheitssuszeptibilität. Tierexperimente belegen eindrucksvoll, dass assistierte Reproduktionstechniken (ART) mit sensitiven Phasen der epigenetischen Reprogrammierung interferieren. Epidemiologische Studien beim Menschen berichten über ein erhöhtes Risiko für Beckwith-Wiedemann- und Angelman-Syndrom, aber das absolute Risiko für ein ART-Kind mit Imprintingkrankheit bleibt gering. Zumindest einige Gene zeigen statistisch signifikante Methylierungsunterschiede innerhalb der normalen Methylierungsvariabilität zwischen ART und Nicht-ART-Schwangerschaften. Das heißt, entweder ART selbst oder mit der elterlichen Infertilität assoziierte Faktoren haben Einfluss auf das Epigenom der nächsten Generation. Fehlerhafte Methylierungsmuster in geprägten Genen zeigen eine signifikante Assoziation mit abnormalen Spermaparametern. Dies unterstützt die Vermutung, dass Epimutationen von der Keimbahn in den Embryo transferiert werden können.

Published
2010
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11. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 → qter

Author

M. Strohner, T. Haaf, Michael Bonin, A. Merinsky, O. Bartsch, M. Tchirikov, and V. Beyer

Subjects
Heart Defects, Congenital, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Derivative chromosome, Micrognathism, Aneuploidy, Trisomy, Chromosomal translocation, Prenatal diagnosis, Hydronephrosis, Biology, Young Adult, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion, Recombination, Genetic, Chromosome 7 (human), Comparative Genomic Hybridization, Fetal Growth Retardation, Karyotype, Stillbirth, medicine.disease, Molecular biology, Chromosome Banding, Chromosome Inversion, Female, Chromosomes, Human, Pair 7
Abstract

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.

Published
2010
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12. Contents Vol. 61, 2010

Author

T. Haaf, Bernardo Dell'Osso, Basu Dev Banerjee, Lance O. Bauer, A.J. Matthews, Alexander Wopfner, Werner Strik, S. Haege, Victor Hesselbrock, Heather A. Berlin, R. Bruno, Sabyasachi Sircar, A. Behl, Helge Horn, Sebastian Walther, U. Zechner, U. Schmitt, Martin Gamerdinger, Christoph Hiemke, Gustav Wirtz, Alfredo Carlo Altamura, Marta Serati, D. Galetzka, Christian Behl, Nadja Razavi, G. Swami, Philipp Koschorke, Manjeet Singh Bhatia, and Richard F. Kaplan

Subjects
Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Biological Psychiatry
Published
2010
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13. Contents Vol. 15, 2010

Author

Jiashu Dong, S.A.E. Nooij, Wen-Yuan Lee, Ying-Chang Lu, Chuan-Jen Hsu, P. Van de Heyning, Ester Domenech-Vadillo, Marco Mandalà, A. Vatter, Oliver Bartsch, Pei-Jer Chen, Roberto Pozzi Mucelli, Lourdes Montes-Jovellar, S. Nospes, Siqing Fu, Javier Cervera-Paz, Chen-Chi Wu, Roberto Cerini, Marco Carner, Paul A. Caruso, Yu-Hsun Chiu, Nicolai Kohlschmidt, Chadi Makary, Floris L. Wuyts, Ling Zhang, U. Zechner, Guanming Chen, A. Baumgart, K.I. Buytaert, Nicolas Perez-Fernandez, Jennifer Hyunjong Shin, A. Keilmann, Hugh D. Curtin, Marco Barillari, Liliana Colletti, T. Haaf, Saumil N. Merchant, C. Wetzig, Pierre-François Migeotte, Alyssa Yan-Zhen Liu, Xavier Neyt, Vittorio Colletti, and Robby Vanspauwen

Subjects
Speech and Hearing, medicine.medical_specialty, Otorhinolaryngology, Physiology, Philosophy, medicine, Audiology, Sensory Systems
Published
2010
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14. Adipositaschirurgie bei monogenetisch bedingter Adipositas

Author

U. Zechner, Michael Korenkov, T. Haaf, Nicolai Kohlschmidt, and Theodor Junginger

Subjects
medicine.medical_specialty, business.industry, General surgery, Gastric bypass, Obesity Surgery, Surgical procedures, Surgery, Review article, Banded gastroplasty, medicine, In patient, Surgical treatment, business, Biliopancreatic Diversion
Abstract

Surgical treatment of patients suffering from monogenetic forms of morbid obesity is considered to be the poorest investigated theme in bariatric surgery. This review article presents aspects of genetic disorders in morbid obesity as well as some aspects of surgical treatment in patients with monogenetic forms of morbid obesity (Prader-Willi-Syndrome). Gastric restrictive procedures such as vertical banded gastroplasty or adjustable gastric banding as well as malabsorptive and mix procedures such as biliopancreatic diversion or Roux-en-Y gastric bypass are used for treatment, similar to polygenetic forms of morbid obesity. Until to now there is no evidence-based data because of the small number of published cases. Decisions about the indication to operation and about the choice of surgical procedures are based on the empiric fundament. It is to suggest that the use of growth hormones in patients with monogenetic forms of morbid obesity could positively influence the results of bariatric surgery in these patients.

Published
2007
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15. 7E olfactory receptor gene clusters and evolutionary chromosome rearrangements

Author

T. Haaf and Ying Yue

Subjects
Genome instability, Chromosomes, Artificial, Bacterial, Genome evolution, Biology, Receptors, Odorant, Genome, Evolution, Molecular, Gene Duplication, Genetics, medicine, Animals, Humans, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Synteny, Segmental duplication, Gene Rearrangement, Mammals, Olfactory receptor, Genome, Human, Chromosome Mapping, medicine.anatomical_structure, Multigene Family, Human genome
Abstract

Olfactory receptor (OR) genes of the 7E subfamily have been duplicated to multiple regions throughout the human genome. Segmental duplications containing 7E OR genes have been associated with both pathological and evolutionary chromosome rearrangements. Many of these breakpoint regions coincide with breaks of chromosomal synteny in the mouse, rat and/or chicken genomes. Collectively, these data suggest that 7E OR-containing regions represent hot spots of genomic instability.

Published
2005
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16. Title Pages / Contents

Author

H.A. Wichman, A. Bardhan, D.A. Parish, M. Rábová, R. Wimmer, A. Banaszek, C.A. Redi, S. Garagna, Terence J. Robinson, D.W. Burt, T.L. Lear, C. Tease, Z. Taib, H. Neitzel, S. Henschel, B.A. Reutter, L. Granjon, W. Vogel, R.M. Jones, B. Sicard, S. Fedyk, E. Sjöstrand, Patricia C. M. O’Brien, J.S. Heslop-Harrison, H. Guedes-Pinto, P.G. Johnston, F. Ståhl, S. Santos, Polina L. Perelman, J.-F. Ducroz, N.B. Rubtsov, R. Chaves, W. Just, T. Raudsepp, H. Brünner, M. Hakhverdyan, N. Ihara, S. Röttger, W. Feichtinger, B.M.N. Wallace, Å. Sjöling, I. Nanda, N. Bogdanchikova, W.R. Harrison, P.M. Mirol, R. Visbal García, C. Mais, S.-I. Kawada, T. Sharma, M. Bahadur, T. Ashley, M. Lombard, V. Aniskin, Natalya A. Serdukova, E. Lecompte, P. Vise, J. Hausser, M.A. Hultén, P. Mariani, G. Dobigny, H. Kühl, A.P. Singh, J.A. Marshall Graves, J. Britton-Davidian, V. Volobouev, R.J. Baker, M.J. Puertas, N.V. Vorobieva, V. Kalscheuer, J.J. Bull, K.M. Mendoza, U. Arnason, L.E. Jensen, P. Gómez-Fabre, C.J. Metcalfe, M. Schmid, T.V. Karamysheva, Jan Zima, M. Morgan-Richards, G. Levan, W. Chetnicki, A. Janke, Y.M. Borissov, O.V. Andreenkova, P. Nová, H. Hameister, K.M. Reed, F. Yang, M.D. Giménez, J.B. Searle, W. Schempp, K. Klinga-Levan, E. Capanna, M.D.B. Eldridge, K. Belkhir, D.A. Martí, T. Haaf, A. Fernández Badillo, A.L. Barlow, F. Adega, Larisa S. Biltueva, B.P. Chowdhary, U. Fiedorczuk, J. Catalan, Alexander S. Graphodatsky, C.A. Everett, V.T. Volobouev, B.S. Milne, F.A. Ponce de León, R. Bellavia, K. Sperling, N.O. Bianchi, A. Behboudi, B. Schreiner, C.W. Beattie, G.L. Bennett, I. Reisert, M.A. Ferguson-Smith, N. Lugon-Moulin, V.M. Aniskin, K.A. Szałaj, C.J. Bidau, M. Corti, B. Fu, M. Zuccotti, C. Steinlein, M.N. Bochkaerev, A. Baumstark, R. Castiglia, Pavel M. Borodin, and Y. Sugimoto

Subjects
Genetics, Library science, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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17. Abstracts of the 37th American Cytogenetics Conference

Author

S.M. White, R. Mollicone, M. Rozek, Z. Tümer, T. Opiola, J.-J. Candelier, C.R. Bonvicino, H. Winking, A. Hebinck, H. Kuiper, Ch. Zühlke, H. Yasue, J.M. Perez de la Lastra, S. Kiuchi, A. Pienkowska, N. Arnal, B. Gläser, C. Ngo, H. Mehenni, C. Steinlein, P.S. D’Andrea, R.P.M.A. Crooijmans, A. Eggen, C. Zijlstra, M. Yerle, U. Butzmann, S.E. Antonarakis, Y.E. Shahein, E. Anton, R. Korstanje, D.F. de Andres-Cara, N.A. de Haan, R. Heilig, B. Brenig, J. Egozcue, C. Delcros, M. Østergaard, G.F. Gillissen, A. Wandall, R. Kreutz, R.J. McKinlay Gardner, F. Piumi, M. Mahony, A. Robic, C. Ozouf-Costaz, N. Tommerup, T. Haaf, C. Rodellar, C. Szpirer, F. Vidal, P.A. Ioannou, P.M. Kroisel, C. Drögemüller, K. Buchet-Poyau, Y. Takagaki, T.L. Harboe, C. Wilhelm, F. Porto-Foresti, J. Barciszewski, A.C.M. Bonné, M.T. Roldan-Arjona, C. Rogel-Gaillard, H. Hiraiwa, Y. Muneta, M. Grzmil, P. Zaragoza, C. Bonillo, H.A. van Lith, J. Kunz, A. Dalski, O. Distl, F. Laccone, D. Milan, C. Windpassinger, T. Awata, H. Uenishi, J. Szpirer, R. Fries, A.A. Bosma, F. Foresti, M.F.Z. Daniel-Silva, H. Hayes, R. Roy, H. Omran, P. Pinton, S. Schlickum, E. Petek, E. Schwinger, L. Li, P. Coullin, C. Knorr, L.F.M. van Zutphen, J. Blanco, H.P. Klinger, A. Volz, J. Mißbach, I.B. Otazu, E. Northrop, C. Andersen, P. Burfeind, M. Den Bieman, M. Meins, R. Melkaoui, J. Beck, U. Radhakrishna, M. Gautier, R. Oriol, L.F. Almeida-Toledo, I. Nanda, K. Wagner, F. Habermann, V. Petrovic, M. Schmid, R. Yamamoto, P. Moore, P. van Vooren, G. Hauke, H. Zürcher, F. Hildebrandt, C.G. Ziegler, J. Koch, P. Laurent, J.L. Williams, M.A.M. Groenen, J.J. Garrido, C. Schelling, S. Yadav, C. Kosan, and H.R. Slater

Subjects
Genetics, medicine.medical_specialty, Cytogenetics, medicine, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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19. [Untitled]

Author

R. Toder, F. Grützner, T. Haaf, and E. Bausch

Subjects
Comparative genomics, Genetics, Genome evolution, biology, Human evolutionary genetics, Cot analysis, biology.animal, Gorilla, Human genome, Genome project, DNA sequencing
Abstract

DNA sequencing reveals that the genomes of the human, gorilla and chimpanzee share more than 98% homology. Comparative chromosome painting and gene mapping have demonstrated that only a few rearrangements of a putative ancestral mammalian genome occurred during great ape and human evolution. However, interspecies representational difference analysis (RDA) of the gorilla between human and gorilla revealed gorilla-specific DNA sequences. Cloning and sequencing of gorilla-specific DNA sequences indicate that there are repetitive elements. Gorilla-specific DNA sequences were mapped by fluorescence in-situ hybridization (FISH) to the subcentromeric/centromeric regions of three pairs of gorilla submetacentric chromosomes. These sequences could represent either ancient sequences that got lost in other species, such as human and orang-utan, or, more likely, recent sequences which evolved or originated specifically in the gorilla genome.

Published
2001
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20. The DNA sequence of human chromosome 21

Author

M, Hattori, A, Fujiyama, T D, Taylor, H, Watanabe, T, Yada, H S, Park, A, Toyoda, K, Ishii, Y, Totoki, D K, Choi, Y, Groner, E, Soeda, M, Ohki, T, Takagi, Y, Sakaki, S, Taudien, K, Blechschmidt, A, Polley, U, Menzel, J, Delabar, K, Kumpf, R, Lehmann, D, Patterson, K, Reichwald, A, Rump, M, Schillhabel, A, Schudy, W, Zimmermann, A, Rosenthal, J, Kudoh, K, Schibuya, K, Kawasaki, S, Asakawa, A, Shintani, T, Sasaki, K, Nagamine, S, Mitsuyama, S E, Antonarakis, S, Minoshima, N, Shimizu, G, Nordsiek, K, Hornischer, P, Brant, M, Scharfe, O, Schon, A, Desario, J, Reichelt, G, Kauer, H, Blocker, J, Ramser, A, Beck, S, Klages, S, Hennig, L, Riesselmann, E, Dagand, T, Haaf, S, Wehrmeyer, K, Borzym, K, Gardiner, D, Nizetic, F, Francis, H, Lehrach, R, Reinhardt, M L, Yaspo, and Antonarakis, Stylianos

Subjects
ddc:616, Genetics, Multidisciplinary, Autosome, Base Sequence, Contig, Gene map, Chromosomes, Human, Pair 21, Molecular Sequence Data, Chromosome Mapping, Chromosome, DNA, Dna, Sequence Analysis, DNA, Genome project, Biology, Genes, Chromosome 19, Mutation, Humans, Down Syndrome, Chromosome 21, Chromosome 22, Down Syndrome/genetics
Abstract

Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes.

Published
2000
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21. The 36th American Cytogenetics Conference

Author

F. Pelliccia, M. Gerbault-Seureau, J. Daut, C. Denning, T. Meitinger, G. Fakis, K. Kikuchi, A. Dalski, H.G. Nothwang, N. Vogt, Y. Liu, M. Breen, P. Lichter, B. Malfoy, K.-H. Grzeschik, A. Rocchi, D. Incarnato, H.M. Mitchison, I. Papet, A.L. Loudon, C. Rossier, S. Schneider, B. Pedersen, D. Vogt, E. Chung, C. Menzel, L. Chen, G.A. Wittert, J. Perret, F. Willeke, L. Ferrara, Y. Watanabe, B. Ugele, W. Engel, V. Buckle, K.J. Fowler, S.E. Antonarakis, M.L. Ramírez-Dueñas, S.I. Anderson, M.E. Delany, R. Swanson, H. Turnbull, D. Sheer, T.E. Whitmore, F. Wei, M. Meeks, P. B. Bennett, H. Engel, A. Perucatti, J. Bonfils, A.C. Jelmberg, S.M. van der Maarel, K. Masuda, S. Lok, P.J. Hope, Y. Matsuda, L. French, R. Hawken, Ch. Zühlke, A. Hebinck, T. Lehnert, D.B. Zimonjic, R.H. Martin, E. Schwinger, R.M. Gardiner, M.L. Ayala-Madrigal, F. Liners, J.-P. Fryns, T.M. Skinner, T. Haaf, S.W. Scherer, M.M. Miller, E. Chevret, L. Rießelmann, R. Blevins, M.L. Watson, I.M. Adham, C.S. Haley, G.C. Webb, R. Shamsadin, M. Parmentier, L. Bartoloni, J. Koch, C. Gehrig, H. Hayes, S. Spiden, A.W.I. Lo, M.Z. Limongi, S. Ohl, S. Kollers, J.-L. Blouin, E. McKenna, A.B. Krupkin, J. Bernardino, D.S. Haines, J.L. Holloway, H.H. Ropers, R.M. Hope, C.E. Lofton-Day, A.R. Zinn, J. Wirth, S. Joos, N.C. Popescu, C. Lindbjerg Andersen, C.D. DeLozier-Blanchet, E.P. Cribiu, M. Østergaard, B. Brenig, E.V. Volpi, L. Schibler, B. Hinzmann, A. Krempler, M. Faure, M. Payton, N.K. Moschonas, A. Niveleau, N. Inoue, H.F. Otto, L. De Moerlooze, Q. Shi, B. Nielsen, P. Deloukas, K.H.A. Choo, M.F. Seldin, M. Otaño-Joos, C. Derst, D. Lefrançois, A. Schröer, I. Hansmann, P. Kalitsis, M.F. Maurer, R. Fries, M.T. Boyd, T.J. Quinton, A. Vilain, J.B. Vincent, K.K. Wilgenbus, G. von Beust, G.P. Di Meo, B. Dutrillaux, L. Gaddini, W. Scheurlen, G. Mechtersheimer, S. Doerr, A.L. Archibald, L. Iannuzzi, E. Sim, K. Regemann, R. Athwal, S. Kübart, A. Rosenthal, D.J. Figueroa, N. Tommerup, M.-G. Mattei, H. Shima, D.F.S. Longmuir, A.K. Maiti, J. Williamson, N.L. Lopez-Corrales, S. Boukouvala, and C.P. Austin

Subjects
medicine.medical_specialty, Anthropology, Genetics, Cytogenetics, medicine, Biology, Molecular Biology, Genetics (clinical)
Published
2000
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22. Preferential S-phase pairing of the imprinted region on distal mouse chromosome 7

Author

L. Riesselmann and T. Haaf

Subjects
medicine.medical_specialty, Time Factors, Biology, Chromosomes, S Phase, Genomic Imprinting, Mice, Chromosome Segregation, Chromosome regions, Genetics, medicine, Homologous chromosome, Animals, Molecular Biology, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics (clinical), S phase, Chromosome 7 (human), medicine.diagnostic_test, Cytogenetics, DNA, Fibroblasts, Molecular biology, Genes, Interphase, DNA Probes, Genomic imprinting, Fluorescence in situ hybridization
Abstract

Fluorescence in situ hybridization (FISH) has been used to visualize the spatial orientation of homologous chromosome regions in interphase nuclei of exponentially growing mouse fibroblasts. Simultaneous labeling of replicating DNA with the halogenated base analog 5-bromodeoxyuridine (BrdU) shows preferential somatic pairing of the imprinted region on distal mouse chromosome 7 during the S phase of the cell cycle. Trans-interactions between oppositely imprinted chromosome regions may be important for the maintenance of imprinting.

Published
1999
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23. Abstracts of the 8th International Meeting

Author

D. Levanon, T.B. Shows, K. Pinchin, K.R. Sims, R.H. Martin, D.A. Collier, I.C. Scott, S. Aytay, B. Goldman, D. Job, H.T. Wong, K. L. Puschus, K.L. Chow, A.C. Clase, S.M. Bell, A. Siegel, P.B. Singh, P. Kools, M. Bullejos, J.P. Adelman, A.W. Rademaker, S. Wedgwood, Y. Gronera, J.P. Chapple, A. Aviram-Goldring, S.C. Kingswood, D. Motzkus, F. Ventura, M. Litt, C.T. Bond, C. Bosc, A.T. Kumamoto, A. Sánchez, T. Haaf, R. Jiménez, A.F. Markham, A.J. Hardcastle, H. Röck, T. Sawazaki, C. Vourc’h, R.L.Y. Wong, G. Barkai, M.E. Cheetham, P.L. Coletta, R.L. Eddy, L.M. Davis, R. Díaz de la Guardia, M. Aldaz, L. Riesselmann, M. Burgos, E. Navarro, C. Cruz, F. Van Roy, E. Denarier, G.G. Hoffman, L.L. Haley, M. Daniely, W. Krone, R. Bartrons, U. Kurzik-Dumke, W.K. Lam, I.M. Carr, H. Kehrer-Sawatzki, D.S. Greenspan, Melissa C. Liechty, T.G. Clark, O.A. Ryder, M. Robert-Nicoud, K. Vanhalst, S.J. Charter, D. LaMorticella, M. Minezawa, J.C. Hozier, C. Jolly, E.J. Cartwright, C. M. Carpio, S.E. Antonarakis, J.L. Rosa, H. Götz, A. Paladugu, S. Hoyer-Fender, D.S. Gallagher, F. Mongelard, and K. Takahara

Subjects
Genetics, Library science, Biology, Molecular Biology, Genetics (clinical)
Published
1999
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24. Contents Vol. 112, 2006

Author

W. Su, A. Eggen, S. Mayer, Darren K. Griffin, Harris A. Lewin, S. Monfort, P.K. Dranchak, T. Raudsepp, Y. Marahrens, U. Mahlknecht, J.J. Uthe, A.E. Alsop, A. Ducos, D. Steinemann, S.M.D. Bearson, K.V. Nielsen, T. Mito, P. Zaragoza, M. Rizzoni, J.S. Oltra, K.B. Miska, A. Verini Supplizi, W. Nie, A. Geurts van Kessel, K. Cappelli, M. Ballester, F. Martínez, T. Hankeln, L.A. Scott, R. Pazza, N.Y. Xu, C. Orellana, B. Schlegelberger, R. Garcia, T. Mattfeldt, A.C. Swarça, P. Möller, E. Magnani, A.D. Ho, S. Voelter-Mahlknecht, N.M. Astakhova, A.S. Fenocchio, F. Grützner, N. Ciloglu, C. Attolini, F. Spirito, A. Kuroiwa, T. Liehr, B. Grossmann, A. Nakata, Y. Yue, U. Claussen, Yuichiro Itoh, Carmelit Richler, E. Karl, J.R. Mickelson, S.L. Yang, S. Brüderlein, M.A. Prokhorovich, M.L. Delbridge, N. Gouin, W. Shelledy, S.G. Nergadze, A.L. Dias, S.W. Jiang, P.J. Kirby, M. Scascitelli, L.C. Skow, M. Schmid, H.L. Wang, I. Kuznetsova, R.D. Miller, M. Regelson, D.M. Larkin, D.L. Adelson, L. Centofante, R. Darré, A. Yoshimura, V. Volobouev, I. Nanda, S. Perner, L. Bertoni, Z.M. Zhu, Sreejith M. Nair, J.V. Cervera, J. Rogers, M.Y. Shao, C. Rudolph, M. Roselló, L.A.C. Bertollo, M. Schartl, Y. Matsuo, S.R. Kata, K. Li, B. Gustavino, L.H. Dai, F. Pacchierotti, H.M. Berland, O. Podgornaya, J.F. Chen, E. Tsend-Ayush, B.P. Chowdhary, C.M. Kammerer, J.M. Folch, Z. García, Steve Horvath, T. Burmester, M.L. Wagner, I. Waibel, I. Martín-Burriel, H. Wang, B. Khireddine, C.D. Eller, M.A. Ferguson-Smith, K. Bi, R. Agarwala, Y. Matsuda, J. Aldenhoven, M.T. Sardina, C. Fuchs, R. Lai, N. Emi, Kathy Kampf, G. Goh, R.M. Brunner, S.-H. Zhao, C. Moran, M.C. Wallis, T. Haaf, T. Li, J.A.M. Graves, J.L. VandeBerg, H.A. Wichman, M.M. Cestari, C.K. Tuggle, J.P. Bogart, H.Y. Ren, A. Bonnet-Garnier, C. Brinkmeyer-Langford, N.S. Zhdanova, M. Abe, F. Yang, Y. Chen, J. Lyahyai, Diederik R.H. de Bruijn, M. Daibata, Y.Z. Xiong, K. Mrasek, F. Prieto, M. Emura, M. Yerle, Z.E. Parra, P.B. Samollow, T. Goldammer, C. Hasel, J. Kaplan, J.E. Deakin, K.F. Kavalco, O. Moreira-Filho, J. Cameron, J.E. Womack, Arthur P. Arnold, S. Noji, L. Badía, E. Giulotto, A. Holdenried, J.W. Kim, A.A. Schäffer, A. Pinton, J. Wang, and S. Letzel

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2006
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25. The hemiphractid frogs. Phylogeny, embryology, life history, and cytogenetics

Author

M, Schmid, C, Steinlein, J P, Bogart, W, Feichtinger, T, Haaf, I, Nanda, E M, del Pino, W E, Duellman, and S B, Hedges

Subjects
Male, Life Cycle Stages, Embryo, Nonmammalian, Genome, Polymorphism, Genetic, Sex Chromosomes, DNA, Ribosomal, Embryo Culture Techniques, Meiosis, Oogenesis, Ovarian Follicle, Heterochromatin, Cytogenetic Analysis, Nucleolus Organizer Region, Oocytes, Animals, Female, Anura, Phylogeny
Published
2013

26. Rabl orientation of CENP-B box sequences in Tupaia belangeri fibroblasts

Author

D.C. Ward and T. Haaf

Subjects
X Chromosome, Chromosomal Proteins, Non-Histone, Molecular Sequence Data, macromolecular substances, DNA, Satellite, Autoantigens, Chromosomes, Tupaia belangeri, Gene mapping, Centromere, Genetics, Animals, Molecular Biology, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics (clinical), Skin, Genomic organization, Cell Nucleus, Binding Sites, Concerted evolution, Base Sequence, biology, Tupaiidae, Chromosome, DNA, Fibroblasts, biology.organism_classification, Biological Evolution, Telomere, DNA-Binding Proteins, Karyotyping, Female, Oligonucleotide Probes, Centromere Protein B
Abstract

The chromosomes of the tree shrew Tupaia belangeri exhibit highly localized CENP-B box sequences in the centromeric regions of most chromosomes. Telomeric sequences are present at the ends of all chromosomes and, in addition, at specific interstitial chromosomal sites that likely represent remnants of ancestral telomeres. This suggests that Robertsonian and tandem chromosome fusion events have occurred in the karyotypic evolution of Tupaiidae. In Tupαiα skin fibroblasts CENP-B boxes are almost always clustered together at one pole of the interphase nucleus, whereas the telomeric domains are relatively evenly distributed throughout the whole nuclear volume. The observed orientation of the centromeres is reminiscent of the Rabl polarization of chromosomes; this is the first mammalian cell substrate in which such an higher-order chromosomal organization has been observed. CENP-B box sequences are found in several other mammalian species. The implications for recent parallel evolution of CENP-B binding motifs and concerted evolution of these sequences are discussed.

Published
1995
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27. Contents, Vol. 70, 1995

Author

G.M. Landes, J.M. Bishop, J. Louhimo, M.L. Freeman, S.S. Kakar, K. Sudo, P. Kunapuli, X. Li, M.R.S. Krishnamani, M.E. Curran, H. Hayes, D.C. Ward, K.W. Gripp, R. Iida, L.A. Pérez Jurado, N. Hayashi, M. Amagai, U. Francke, D. Nadano, M.L. Summar, K. Omoe, M. Aronson, H. Nagase, T. Ishida, K. Ohata, S.C. Maric, B. Dutrillaux, F. Apiou, D.F. Callen, D.W. Bell, G. Goubin, Y. Nakamura, E. Takahashi, B. Schlegelberger, P.N. Tsichlis, H. Hameister, C. Van Broeckhoven, J. Kudoh, E.L.D. Mitchell, E. Sierra-Rivera, S.M. Gartler, M. Schertzer, M. Ogawa, J.L. Benovic, H. Mizusawa, H. Sugawara, C.A. Griffin, N.A. Jenkins, S. Shin, H.L. Grimes, C.I. Civin, M. Yerle, S. Hoyer-Fender, K. Chinen, E. Shtivelman, H. Arakawa, L.A. Cannizzaro, K. Kishi, J.M. Varley, L. Pibouin, H. Yasue, F. Bullrich, Y.-J. Chen, J. Lasota, E.P. Cribiu, M.F. Santibanez Koref, G.R.M. White, S.A. Lane, T. Itoh, D.J. Gilbert, Y. Murakami, J.R. Testa, D. Jones, O.A. Jänne, W. Grote, M.L. Yaremko, M. Poetsch, H. Takeshita, E. Kim, T. Yasuda, T. Sofuni, T. Druck, J.M. Delabar, S. Ueda, T. Eki, N. Shimizu, K. Weber-Matthiesen, C.B. Gilks, K. Huebner, C. Le Chalony, D. Small, N.G. Copeland, H. Ishikawa, A. Endo, P. Burfeind, M. Ohki, Y. Lahbib-Mansas, J. Deerberg, Y. Sakaki, M.T. Keating, H. Tanabe, H.D. Webb, E.Y. Cheng, Y. Wang, C.E. Carow, E.W. Jabs, J. Gellin, T. Nishikawa, A. Milatovich, M. Nagata, T. Fujiwara, S. Suwa, S. Minoshima, J.A. Phillips, T. Hashimoto, S. Wood, M. Dasouki, A.L. Hawkins, F. Claro, R. Peoples, A. Crozat, T. Taguchi, M. Banzai, S. Antonarakis, J. Gomez, P. Zweidler-McKay, T. Haaf, C. Mellink, D. Patterson, S. Knuutila, and J.D. Neill

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
1995
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28. Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects

Author

O, Bartsch, I, Kirmes, A, Thiede, S, Lechno, H, Gocan, I S, Florian, T, Haaf, U, Zechner, L, Sabova, and F, Horn

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Original Article
Abstract

Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human VANGL1 gene have been described in a small subset of patients with NTDs. We performed a VANGL1 mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613G>A (p.Gly205Arg) with an open spina bifida (lumbosacral meningomyelocele), c.557G>A (p.Arg186His) with a closed spina bifida (tethered cord and spinal lipoma) and c.518G>A (p.Arg173His) with an unknown NTD. The c.613G>A mutation was also found in a healthy sibling. None of the mutations were described previously. Findings support that heterozygous VANGL1 mutations represent hypomorphs or conditional mutants predisposing to NTDs and occur at a frequency of approximately 2.1% of open and closed spinal NTDs. The mutations (p.Arg173His, p.Arg186His, p.Gly205Arg) modified conserved regions of the VANGL1 protein and shared similarities with previously described mutants, providing further evidence for the presence of mutational hot spots in these patients.

Published
2012

29. Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices

Author

E, Schneider, S, Mayer, N, El Hajj, L R, Jensen, A W, Kuss, H, Zischler, I, Kondova, R E, Bontrop, B, Navarro, E, Fuchs, U, Zechner, and T, Haaf

Subjects
Adult, Male, Primates, Pan troglodytes, Molecular Sequence Data, Coatomer Protein, Evolution, Molecular, Genomic Imprinting, Young Adult, Species Specificity, Sequence Homology, Nucleic Acid, Animals, Humans, Genetic Predisposition to Disease, Child, Promoter Regions, Genetic, Aged, DNA Primers, Aged, 80 and over, Cerebral Cortex, Base Sequence, Proteins, Callithrix, DNA Methylation, Middle Aged, Macaca mulatta, Child Development Disorders, Pervasive, Female, Papio hamadryas, Chromosomes, Human, Pair 7
Abstract

The autism susceptibility locus on human chromosome 7q32 contains the maternally imprinted MEST and the non-imprinted COPG2 and TSGA14 genes. Autism is a disorder of the 'social brain' that has been proposed to be due to an overbalance of paternally expressed genes. To study regulation of the 7q32 locus during anthropoid primate evolution, we analyzed the methylation and expression patterns of MEST, COPG2, and TSGA14 in human, chimpanzee, Old World monkey (baboon and rhesus macaque), and New World monkey (marmoset) cortices. In all human and anthropoid primate cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes. The MEST gene also showed comparable mRNA expression levels in all analyzed species. In contrast, COPG2 expression was downregulated in the human cortex compared to chimpanzee, Old and New World monkeys. TSGA14 either showed no differential regulation in the human brain compared to chimpanzee and marmoset or a slight upregulation compared to baboon. The human-specific downregulation supports a role for COPG2 in the development of a 'social brain'. Promoter methylation patterns appear to be more stable during evolution than gene expression patterns, suggesting that other mechanisms may be more important for inter-primate differences in gene expression.

Published
2012

30. Bibliography of Karl Fredga

Author

K. Klinga-Levan, J. Hausser, E. Capanna, M.J. Puertas, H. Neitzel, N. Ihara, D.A. Martí, U. Fiedorczuk, V.T. Volobouev, B.S. Milne, H. Kühl, L.E. Jensen, W.R. Harrison, S. Henschel, F. Ståhl, W. Vogel, R.M. Jones, A. Behboudi, B. Schreiner, C.W. Beattie, B.A. Reutter, T.V. Karamysheva, G.L. Bennett, B. Fu, P. Vise, W. Schempp, O.V. Andreenkova, T. Haaf, A.L. Barlow, Larisa S. Biltueva, C. Mais, G. Levan, M.D.B. Eldridge, I. Reisert, S. Röttger, C. Steinlein, F. Yang, M.D. Giménez, R.J. Baker, J. Catalan, Natalya A. Serdukova, M.N. Bochkaerev, A. Janke, Polina L. Perelman, U. Arnason, B. Sicard, E. Sjöstrand, S. Santos, W. Just, T. Raudsepp, R. Chaves, J.A. Marshall Graves, Pavel M. Borodin, Y. Sugimoto, W. Feichtinger, A. Bardhan, D.A. Parish, M. Rábová, J.B. Searle, C. Tease, Y.M. Borissov, E. Lecompte, H. Brünner, P. Nová, T. Sharma, Terence J. Robinson, D.W. Burt, T.L. Lear, J. Britton-Davidian, I. Nanda, H. Guedes-Pinto, N. Lugon-Moulin, V.M. Aniskin, K.M. Mendoza, H.A. Wichman, P. Gómez-Fabre, K. Sperling, N.O. Bianchi, K.A. Szałaj, P.G. Johnston, Patricia C. M. O’Brien, S.-I. Kawada, Å. Sjöling, S. Garagna, H. Hameister, R. Wimmer, V. Aniskin, K.M. Reed, A. Baumstark, A. Banaszek, P. Mariani, M. Lombard, C.A. Redi, S. Fedyk, R. Castiglia, A.P. Singh, J.J. Bull, J.S. Heslop-Harrison, N.B. Rubtsov, M. Morgan-Richards, R. Bellavia, K. Belkhir, L. Granjon, N.V. Vorobieva, V. Kalscheuer, G. Dobigny, A. Fernández Badillo, J.-F. Ducroz, R. Visbal García, C.J. Bidau, M. Corti, M. Zuccotti, M.A. Ferguson-Smith, M.A. Hultén, W. Chetnicki, M. Hakhverdyan, B.M.N. Wallace, N. Bogdanchikova, P.M. Mirol, M. Bahadur, T. Ashley, Z. Taib, V. Volobouev, C.J. Metcalfe, M. Schmid, F. Adega, B.P. Chowdhary, Alexander S. Graphodatsky, C.A. Everett, F.A. Ponce de León, and Jan Zima

Subjects
Genetics, Bibliography, Biology, Molecular Biology, Genetics (clinical), Classics
Published
2002
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31. Contents Vol. 97, 2002

Author

E. Petek, M. Rozek, Z. Tümer, S.E. Antonarakis, E. Anton, Ch. Zühlke, J.L. Williams, U. Butzmann, M.A.M. Groenen, E. Northrop, A.C.M. Bonné, J.M. Perez de la Lastra, H.R. Slater, N.A. de Haan, R. Heilig, C. Delcros, Y.E. Shahein, J.J. Garrido, F. Porto-Foresti, M. Østergaard, C. Steinlein, A. Robic, G.F. Gillissen, A. Volz, R.J. McKinlay Gardner, T.L. Harboe, B. Brenig, R. Korstanje, S.M. White, M. Den Bieman, R. Melkaoui, R. Kreutz, F. Piumi, J. Beck, D.F. de Andres-Cara, T. Haaf, C. Rodellar, U. Radhakrishna, M. Gautier, N. Tommerup, K. Wagner, I. Nanda, K. Buchet-Poyau, L.F. Almeida-Toledo, P.S. D’Andrea, P.M. Kroisel, M. Grzmil, C. Schelling, M. Mahony, C. Drögemüller, J. Barciszewski, M. Meins, F. Vidal, C. Zijlstra, S. Yadav, C. Bonillo, C. Kosan, V. Petrovic, J. Egozcue, F. Habermann, M. Schmid, R. Roy, A.A. Bosma, F. Foresti, C. Windpassinger, H. Uenishi, R. Yamamoto, H. Hiraiwa, A. Dalski, R. Mollicone, J. Szpirer, R. Fries, C. Wilhelm, R. Oriol, C. Ozouf-Costaz, M.F.Z. Daniel-Silva, H. Hayes, E. Schwinger, P. Coullin, C. Andersen, P. Pinton, M.T. Roldan-Arjona, C. Rogel-Gaillard, J.-J. Candelier, L.F.M. van Zutphen, H.A. van Lith, P.A. Ioannou, O. Distl, H. Omran, J. Kunz, S. Schlickum, T. Awata, L. Li, H. Kuiper, H.P. Klinger, P. van Vooren, S. Kiuchi, J. Mißbach, N. Arnal, A. Pienkowska, D. Milan, C. Ngo, H. Mehenni, R.P.M.A. Crooijmans, T. Opiola, B. Gläser, I.B. Otazu, C.R. Bonvicino, H. Winking, A. Hebinck, J. Blanco, A. Eggen, A. Wandall, C. Knorr, C. Szpirer, H. Zürcher, F. Hildebrandt, C.G. Ziegler, Y. Takagaki, J. Koch, P. Laurent, P. Burfeind, H. Yasue, P. Moore, M. Yerle, G. Hauke, Y. Muneta, P. Zaragoza, and F. Laccone

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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32. 5-Azadeoxycytidine distinguishes between active and inactive X chromosome condensation

Author

M. Schmid, T. Haaf, and P. Werner

Subjects
X Chromosome, Autosome, Barr body, Cell Cycle, Mitosis, Biology, Methylation, Molecular biology, X-inactivation, Cell Line, Chromosome Banding, Chromatin, Cell biology, Gene Expression Regulation, Heterochromatin, Premature chromosome condensation, Azacitidine, Genetics, Animals, Humans, XIST, Molecular Biology, Genetics (clinical), X chromosome
Abstract

Treatment with 5-azadeoxycytidine (5-aza-dC) causes dramatic inhibition of mitotic condensation in the inactive X chromosome, without affecting the active X chromosome and autosomes. The undercondensed chromatin structure is most prominent in the late-replicating regions of the inactive X chromosome, whereas specific earlier-replicating segments on the inactive X probably associated with large blocks of genes that escape inactivation remain normally condensed. This segmentation of inactive X chromosomes has been evolutionarily conserved and is unique to mammals. It suggests temporal or mechanistic separation in condensation of inactive X chromatin. Condensation of chromatin structure is a novel and general feature of inactive X chromosomes that may be involved, directly or indirectly, in the maintenance and stabilization of X inactivation.

Published
1993
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33. Contents Vol. 93, 2001

Author

T. Brueckmann, W. Brenner, M. Steinemann, W. Vogel, S. Schlaubitz, C. Zühlke, M. Lombard, F. Boán, K. Benirschke, S. Naumann, S.W. Bremer, C. Steinlein, S. Steinemann, F. Richard, P.D. Thomsen, M. Yerle, K.D. Zang, Z. Docherty, C. Amid, K. Mrasek, I. Schubert, M. Mende, I. Nanda, T. Paiss, C. Genêt, L.J. Peelman, I. Chudoba, M. Hughes, R.-D. Wegner, U. Claussen, L. Sánchez, B. Seipel, F. Grützner, F.J. García-Cozar, D. Prawitt, B.U. Zabel, J.L. Wright, A. Van Zeveren, K. Stout, V. Kalscheuer, M. Stumm, R.V. Rambau, N. Reissmann, D.S. Gallagher, B. Zabel, A. Ishikawa, C. Messaoudi, A.T. Kumamoto, E.C. Akeson, A. Mujica, A. Dalski, P. Kaiser, T. Liehr, J.G. Scammell, S. Bremer, C. Pfeifer, S. Munsche, M.M. Valdivia, M. Van Poucke, M. Schmid, C.M. Tuck-Muller, H. Starke, F. Domínguez, Y. Matsuda, S. Störkel, C.G. Mathew, F.F.B. Elder, S. Narayanswami, H. Scherthan, J. Decker, E. Schwinger, A. Niveleau, V. Trifonov, H. Mayrhofer, J. Gómez-Márquez, J.P. Lambert, S.-E. Bikar, E. Zend-Ajusch, L.J. Bechtel, T. Haaf, Y.A. Wang, A. Viñas, C. Iglesias, C. Mackie Ogilvie, A. Bahr, T. Nagase, A. Dufke, H.H.Q. Heng, A. Winterpacht, W. Lu, T.J. Robinson, C. Maier, K. Matsubara, A. Heller, A. Kuroiwa, M. Rocchi, B. Dutrillaux, C.J. Ye, N. Nomura, N. Rubtsov, E.R. Schmidt, T. Namikawa, M.T. Davisson, C. Tuggle, K. Gardiner, H. Enders, G. Liu, M. Buceta, H. Hanson, H. Hauser, N. Sampson, H. Neitzel, P.D. Waters, T. Hankeln, H. Tönnies, C. Pendón, J. Bolívar, M.L. Houck, D. Reutzel, M. Leipoldt, A. Cichutek, P. Moens, J.A.M. Graves, P.J. Kirby, B. Maurer, A. Astola, S.A. Krawetz, and F. Piumi

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2001
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34. Epigenetic profile of developmentally important genes in bovine oocytes

Author

J, Heinzmann, T, Hansmann, D, Herrmann, C, Wrenzycki, U, Zechner, T, Haaf, and H, Niemann

Subjects
Analysis of Variance, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Kruppel-Like Transcription Factors, Fertilization in Vitro, DNA Methylation, snRNP Core Proteins, Epigenesis, Genetic, Tissue Culture Techniques, Insulin-Like Growth Factor II, Mutation, Oocytes, Animals, Cattle, Female, RNA, Messenger, DNA Primers
Abstract

Assisted reproductive technologies are associated with an increased incidence of epigenetic aberrations, specifically in imprinted genes. Here, we used the bovine oocyte as a model to determine putative epigenetic mutations at three imprinted gene loci caused by the type of maturation, either in vitro maturation (IVM) in Tissue Culture Medium 199 (TCM) or modified synthetic oviduct fluid (mSOF) medium, or in vivo maturation. We applied a limiting dilution approach and direct bisulfite sequencing to analyze the methylation profiles of individual alleles (DNA molecules) for H19/IGF2, PEG3, and SNRPN, which are each associated with imprinting defects in humans and/or the mouse model, and are known to be differentially methylated in bovine embryos. Altogether, we obtained the methylation patterns of 203 alleles containing 4,512 CpG sites from immature oocytes, 213 alleles with 4,779 CpG sites from TCM-matured oocytes, 215 alleles/4,725 CpGs in mSOF-matured oocytes, and 78 alleles/1,672 CpGs from in vivo-matured oocytes. The total rate of individual CpGs and entire allele methylation errors did not differ significantly between the two IVM and the in vivo group, indicating that current IVM protocols have no or only marginal effects on these critical epigenetic marks. Furthermore, the mRNA expression profiles of the three imprinted genes and a panel of eight other genes indicative of oocyte competence were determined by quantitative real-time PCR. We found different mRNA expression profiles between in vivo-matured oocytes versus their in vitro-matured counterparts, suggesting an influence on regulatory mechanisms other than DNA methylation.

Published
2010

35. A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma

Author

T, Haaf, A T, Sumner, J, Köhler, H F, Willard, M, Schmid, and A T, Summer

Subjects
Male, CREST Syndrome, Centromere, DNA, Satellite, Biology, chemistry.chemical_compound, Meiosis, Genetics, Humans, Ring Chromosomes, Molecular Biology, Genetics (clinical), Scleroderma, Systemic, Chromosomes, Human, Pair 11, Nucleic Acid Hybridization, Chromosome, Syndrome, Middle Aged, Chromosome Banding, Pedigree, Chromatin, chemistry, Microscopy, Electron, Scanning, Microchromosome, Female, Crest, DNA Probes, DNA
Abstract

A patient with the CREST syndrome of scleroderma was found to carry a mosaicism for a supernumerary microchromosome. The microchromosome was approximately 1 micron in size and present in over half of the lymphocyte metaphases examined. It bound centromeric proteins specifically recognized by CREST autoimmune sera (including the patient's serum). In situ hybridization with a panel of chromosome-specific alpha-satellite probes showed that the microchromosome was derived from chromosome 11, most or all of its chromatin consisting of the chromosome 11 subset of alpha-satellite DNA. It had no detectable telomeric sequences. Microchromosomes observed by electron microscopy had no visible free ends. The chromatin looked exactly the same as it did in normal chromosomes. Although we have no direct evidence for a circular structure, we conclude that the microchromosome originated by an interstitial deletion including the alpha-satellite DNA sequences and subsequent ring formation. The newly formed chromosomal element proved to be relatively stable somatically and was transmitted through meiosis. Since it possesses at least some structural and functional features of a centromeric region, the microchromosome can be thought of as an isolated centromere.

Published
1992
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36. Contents Vol. 90, 2000

Author

H. Hameister, R.H. Martin, Eric D. Green, K. Nayernia, C.M. Tsiapalis, S.I. Anderson, W.J. Schwaeble, Alan Archibald, A. Eggen, H. Hayes, S. Weigend, S. Kubalak, K. Hashimoto, T. Escudero, R. Tanuma, P.A. Robinson, M. Schmid, P. Burfeind, V. Fillon, M.A. Ferguson-Smith, K. Wimmers, M. van Bilsen, M.E. Delany, S. Ikegawa, J.P. Leek, J.L. Doyle, N.A. Jenkins, N. Serdukova, K. Kratochwil, F.J. Charchar, W. Lu, S. Bremer, M.F. Maurer, J. Smith, C. Szpirer, Udaya DeSilva, J. Uedelhoven, S. Sexson, K. Ladjali-Mohammedi, J. Szpirer, H.C. Ardley, A.S. Graphodatsky, S. Munné, L. Carim-Todd, J. Burnside, P.A. Doevendans, G. Liu, J. Grønlund, U. Holmskov, J-M. Buerstedde, D. Conklin, N.G. Copeland, M.R. Speicher, G.P. Di Meo, D.W. Burt, N.A.A. Balatsos, S. A’Hara, F. Deák, T.V. Karamisheva, D.J. Gilbert, D.K. Griffin, S.A. Rose, M. Sano, M. Runte, F. Pitel, P. Laurent, J. Hillel, L. Módis, Q. Shi, T.E. Whitmore, N.G.S. Tan, M. Morisson, C. Steinlein, J. Kaufman, F. Raymond, N. Courtis, P. Zaragoza, A. Schulz, J.A.M. Graves, N. Kleiter, I. Kiss, H. Sheng, T. Haaf, M. Tixier-Boichard, J.H. Calvo, R. Bronsaer, M. Schartl, C. Rodellar, M. Balázs, I. Artner, M. Hoehn, M. Hughes, G. Dekomien, P. van Vooren, Webb Miller, N.S. Zhdanova, M .A.M. Groenen, P.R. Lozano, T. Burke, S. Tascou, T. Liehr, C.M. Stover, M. Escarceller, J. Schleypen, J.-C. Courvalin, U. Claussen, M. Gautier, R. Osta, A. Mäki-Tanila, P. Perelman, T.M. Skinner, K. Krysan, N.M. Astakhova, A.F. Markham, A. Vignal, S. Marcos, D. Sable, H.H.Q. Heng, E. Minc, I. Nanda, P. Liénard, H. Marquardt, H.H. Cheng, R.P.M.A. Crooijmans, R. Kreutz, R. Fries, F. Yang, J. Cohen, P.A. Thomson, R. Zákány, S. Mizuno, M. Guttenbach, Y. Nakamura, M. Svartman, A. Robic, L. Iannuzzi, M. Rivière, T.A. Deisher, S. Muratoglu, M. Sandalinas, M. Hirai, B. Buendia, C. Dixkens, C.V. Beechey, N. Bumstead, L. Sumoy, J. Kusuda, B. Schreiner, R. Gödde, Y. Koshizuka, J.T. Epplen, N.B. Rubtsov, N.L. Lopez-Corrales, A. Law, X. Estivill, M. Samiotaki, and W. Engel

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2000
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37. Contents Vol. 89, 2000

Author

B. Rosenbusch, M.-T. Bihoreau, J. Satrústegui, J. Browne, B.P. Morgan, C. Niehrs, V.A. Valentine, L.Z. Topol, K. Rader, S.-Y. Li, S. Seino, T. Ono, M.L. Ramírez-Dueñas, K.C Arden, T.-H. Hsu, M. Schmid, S. Rensen, S.H. Park, M.J. Pettenati, H. Yano, W. Van Hul, J.L Vernon, K. Ellington, S. Yonezawa, M.A. Sims, A. Dutra, G. Kandala, S. Paradisi, N.A. Jenkins, F. Gruetzner, C. Dixkens, A.I. Protopopov, N.G. Copeland, A. Glinka, L. Ferretti, H.-U.G. Weier, S. Zabel, Y.-C. Li, S. Sonta, R.A. White, E. Roessler, C. Von Kap-Herr, D. Incarnato, M. Osaki, A. Solans, A.V. Zelenin, E. Petek, G.P. Zambetti, K. Wagner, D.S. Holt, P.M. Richardson, N.D. Rendtorff, T.A. Lister, D. Taruscio, L. Iannuzzi, A. Buck, N.A. Jensen, M.G. Foti, M.A. Hyatt, I. Nanda, M.R. James, P. Doevendans, L. Cai, Y. Du, C.X. George, S. Doerr, M. Athanasiou, G.J.J.M. van Eys, Y. Yokoyama, M.R. Barnes, C.E. Samuel, W. Wuyts, R.S. Bora, M.G. Farquhar, F. Sablitzky, L. Archangelo, M.-G. Mattéi, E.R. Zabarovsky, Q. Zhang, M.-J. Pébusque, M.L. Ayala-Madrigal, L.M. Pasztor, M.-C. Hernandez, R.A. Lersch, S. Yamashita, N. Spurr, G.K. Zoraqi, Y.M. Heng, P.M. Kroisel, M.J. Neat, P. Zambonelli, S. Comincini, R.K. Gupta, G.P. Di Meo, P. Musilová, H. Vissing, Z. Shan, E. Kalm, X. Estivill, S.S. Mann, C. Hansen, I. Hansmann, V. Setaluri, A. Stratil, V.I. Kashuba, R. Davoli, M. Fox, C.C. Lin, H. Egger, J.E. Wiley, Y. Wang, Z. Gu, A. Oohira, A.S. Hill, R. Sanz, V. Falbo, J. Fitzgibbon, P.D. Thomsen, A. Perucatti, J.B. Rattner, G. Merkx, H. Kim, S. Masaki, S. de la Luna, T.L. Harboe, L. Schibler, M.A. Israel, S. Paul, O. Bögler, R.Z. Gizatullin, O.V. Muravenko, B. Brenig, S. Ichikawa, M. Muenke, M.B. Powell, J.-F. Cheng, J. Rubeš, C. Looft, A. Vortkamp, P.C. Burr, T.C. Hart, C. Ramos, N. Tommerup, D.A. Campbell, C.M. Owczarek, B.U. Koelsch, L. Jones, Y. Hirabayashi, K.J. Portbury, S. Aono, C.-Z. Wang, S.D. Field, V. Russo, T. Haaf, P.J. Andres-Barquin, W. Emberger, S. Hirano, C. Lee, A. Kindler-Röhrborn, C. Ayuso, T. Tsukasaki, C. Windpassinger, P.J. Hertzog, A. Kanamori, C. Popovici, A.D. Boyer, M.A. Farwell, N. Foot, L.I. Zon, S. Cepica, D. Birnbaum, A. Silahtaroglu, I. Kola, B. Castiglioni, J. Kohlhase, A. Geurts van Kessel, D.J. Gilbert, M. Yerle, V.W. Sykes, K.E. Murphy, A. del Arco, M. Schneider, E.P. Cribiu, N.K. Rushmere, S.T. Suzuki, S. Breitweser, D.G. Blair, Y.K. Jung, N. Shaikh, Z. Tümer, N. Yokoi, K. Lindpaintner, and D.G. Jo

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2000
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38. Spatial learning and expression patterns of PP1 mRNA in mouse hippocampus

Author

Martin Gamerdinger, T. Haaf, Christian Behl, D. Galetzka, U. Zechner, U. Schmitt, S. Haege, and C. Hiemke

Subjects
Time Factors, Morris water navigation task, Water maze, Hippocampal formation, Hippocampus, Mice, Neurotrophic factors, Protein Phosphatase 1, Hippocampus (mythology), Animals, RNA, Messenger, Maze Learning, Biological Psychiatry, Swimming, Brain-derived neurotrophic factor, Analysis of Variance, Behavior, Animal, Brain-Derived Neurotrophic Factor, Mice, Inbred C57BL, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Gene Expression Regulation, Space Perception, Synaptic plasticity, Memory consolidation, Psychology, Neuroscience
Abstract

Background: Synaptic plasticity is believed to be the major cellular basis for learning and memory. Protein phosphorylation is a key process involved in changes in the efficacy of neurotransmission. In long-term changes synaptic plasticity is followed by structural plasticity and protein de novo synthesis. Such mechanisms are believed to build the basis of hippocampal learning and memory investigated in the Morris water maze (MWM) task. To examine the role of dephosphorylation during that model for spatial learning, we analyzed protein phosphatase 1 (PP1) expression in the hippocampus of mice at various stages of the task and in two groups with different learning abilities. Methods: Mice were trained for 4 days with four trials each day in the MWM. For gene expression hippocampi were prepared 1, 6 and 24 h after the last trial of each day. PP1 and brain-derived neurotrophic factor (BDNF) mRNA levels were determined by quantitative real-time PCR. Results: The task requirements themselves affected expression levels of both PP1 and BDNF. In contrast to BDNF, PP1 was differentially expressed during learning. Poorly and well performing mice differed significantly. When performance was poor the expression level of PP1 was higher. Conclusion: Present results add further in vivo evidence that not only phosphorylation but also dephosphorylation is a major mechanism involved in learning and memory. Therefore, inhibition of hippocampal phosphatase activity might improve learning and memory.

Published
2009

39. Chromosome banding in Amphibia. XV. Two types of Y chromosomes and heterochromatin hypervariabilty inGastrotheca pseustes (Anura, Hylidae)

Author

C. G. de Almeida, Claus Steinlein, David M. Hillis, R. Friedl, T. Haaf, William E. Duellman, and Michael Schmid

Subjects
Genetics, medicine.medical_specialty, B chromosome, Cytogenetics, Karyotype, Biology, Y chromosome, Bivalent (genetics), medicine, Ploidy, Small supernumerary marker chromosome, Genetics (clinical), X chromosome
Abstract

The chromosomes of the newly discovered South American marsupial frogGastrotheca pseustes were analyzed by conventional methods and by various banding techniques. This species is characterized by XY♂/XX♀ sex chromosomes and the existence of two different morphs of Y chromosomes. Whereas in type A males the XYA chromosomes are still homomorphic, in type B males the YB chromosome displays a large heterochromatic region at the long arm telomere which is absent in the X. In male meiosis, the homomorphic XYA chromosomes exhibit the same pairing configuration as the autosomal bivalents. On the other hand, the heteromorphic XYB chromosomes form a sex bivalent by pairing their short arm telomeres in a characteristic end-to-end arrangement. Analysis of the karyotypes by C-banding and DNA base pair-specific fluorochromes reveals enormous interindividual size variability of the autosomal heterochromatin.

Published
1990
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40. Contents Vol. 86, 1999

Author

D. Quincey, Y.-O. Kim, N. Sato, T. Leeb, L.J. Conner, A. Veronese, H. Satoh, C.G. Jakobsen, L. Martins, S.E. Hayes, E. Gentile, Manfred Gessler, F. Hosoda, M. Kinebuchi, C. Lemercier, O. Marcu, K. Hoehn, S.-Y. Park, T. Hardt, G. Barbanti-Brodano, F. Yang, Mariano Rocchi, Masanori Hatakeyama, T. Torii, T. Kitamura, N. Serakıncı, W. Mann, S. Osborne Lawrence, B. Brenig, D.G. Stathakis, H.-J. Koh, E. Verdin, Y. Franke, Masaki Okano, G. Pottier, K. Amimoto, Grant C. Sellar, N. Spieker, P.A. Martin-DeLeon, A. Strub, E. Li, M.-D. Devignes, X. Reveles, C. Roussakis, P. Grossfeld, N. Miyasaka, L.F.M. van Zutphen, S.A.N. Goldstein, M. Lepke, A. Tunnacliffe, G.N. Hendy, N.A. Manjunath, X. Deng, K. Georgas, U. Mahlknecht, K. Kikuchi, U. Sohn, A. Fogli, P.J. Yarowsky, P.C.M. O’Brien, W. Van Hul, T. Kozaki, L. Burridge, W. Wuyts, D. Masson, S. Forbes, J.P. Murnane, J. Stamberg, L. Viggiano, R. Favier, H. Kawakami, N. Katsanis, Matthew Breen, L.E. Stramm, L. Reid, P. Lustenberger, H.-H. Ropers, M. Athanasiou, S. Grimmond, K. Smith, M. Schmid, J.-Å. Gustafsson, D.S. Gerhard, J. Cruces, H. Narimatsu, J.L. Marsh, C-C. Hu, S. Katabami, Katsuzumi Okumura, L.A. Rethy, Y.-J. Kang, C.N. Sprung, B. Zabel, V. Bhide, P. Taschner, M. Trubia, S.-H. Kim, T. Haaf, Teijiro Aso, P.G. Gallagher, Marcel M.A.M. Mannens, T. Shiina, P.A. Ioannou, E. Schuuring, M.A. Ferguson-Smith, K. Yamada, R.J. Peoples, H. Inoko, D. Hoelzer, Y.-K. Wang, S. Stilgenbauer, R. Carrozzo, W. Rens, J. Harris, K. Yuri, E. Karayianni, A. De Paepe, T. Taguchi, H. Iwasaki, K. Krejčí, D. Carbonnelle, M. Hattori, L.A. Pérez Jurado, G. Gaudray, M.C. Yoshida, J. Justesen, G.F. Carle, I. Nanda, H.C. Au, M. Zollo, Veronica van Heyningen, J.T. Mascarello, R. Bucala, S.-H. Park, L.L. Hansen, S. Takai, Y. Shi, T. Kudo, M. Ohki, S. Raynaud, T. Watanabe, C. Turc-Carel, C.L. Pin, R. Korstanje, G. Chenevix-Trench, T. Miyachi, N. Van Roy, D.H. Spathas, C. Jacquot, M. Kaneko, C. Talbot, C. Magnanini, F.A. Ponce de León, Rogier Versteeg, Barbara R. DuPont, Glen A. Evans, R. Koike, R. Taramelli, H.-Z. Chen, N.A. Jenkins, C. Morelli, Shin-ichiro Takebayashi, Franki Speleman, P. Zisimopoulou, H. Hummerich, G.P. Holmes, A. Matsuura, H.A. van Lith, V. Orphanos, T. Kuramoto, P. Gaudray, T.K. Watanabe, T. Iizuka, D.J. Gilbert, S. Nakamura, F. Grummt, I.E. Scheffler, A.A. Bosma, M. Tixier-Boichard, C. Berger, C. Desmaze, H. Maruyama, Melissa H. Little, C. Alberti, F. Parente, G. Arrigo, K. De Boulle, N.G. Copeland, M. Selkirk, T. Mattina, M. Rosati, L. Sabatier, A. Calender, S.F. Konieczny, S. Sabbioni, Jet Bliek, M. James, M. Gordon, S. Giglio, Peter Little, T. Liehr, L. Canaff, N. Saitou, P.J. Willems, M.G. Denis, G.M. Maniatis, Nicoletta Archidiacono, L.V. Debelenko, O. Zuffardi, J.P. Simmer, J.J. Bitgood, K. Ladjali-Mohammedi, T. Thangarajah, B. Gawin, H. Himmelbauer, C. Lo Nigro, U. Francke, T.-L. Huh, M. Horie, C.M. Croce, J. Strovel, C. Staib, P. Bray-Ward, G. Weber, J. Koch, K. Kitada, Giovanna Grimaldi, J. Kalla, T. Serikawa, and M. Negrini

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
1999
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41. [Obesity surgery in patients suffering from monogenetic adipositas]

Author

M, Korenkov, N, Kohlschmidt, U, Zechner, T, Haaf, and T, Junginger

Subjects
Adult, Multifactorial Inheritance, Adolescent, Gastroplasty, Gastric Bypass, Bariatric Surgery, Middle Aged, Biliopancreatic Diversion, Obesity, Morbid, Postoperative Complications, Weight Loss, Humans, Prader-Willi Syndrome, Follow-Up Studies
Abstract

Surgical treatment of patients suffering from monogenetic forms of morbid obesity is considered to be the poorest investigated theme in bariatric surgery. This review article presents aspects of genetic disorders in morbid obesity as well as some aspects of surgical treatment in patients with monogenetic forms of morbid obesity (Prader-Willi-Syndrome). Gastric restrictive procedures such as vertical banded gastroplasty or adjustable gastric banding as well as malabsorptive and mix procedures such as biliopancreatic diversion or Roux-en-Y gastric bypass are used for treatment, similar to polygenetic forms of morbid obesity. Until to now there is no evidence-based data because of the small number of published cases. Decisions about the indication to operation and about the choice of surgical procedures are based on the empiric fundament. It is to suggest that the use of growth hormones in patients with monogenetic forms of morbid obesity could positively influence the results of bariatric surgery in these patients.

Published
2007

42. Methylation dynamics in the early mammalian embryo: implications of genome reprogramming defects for development

Author

T, Haaf

Subjects
Mice, Species Specificity, Animals, Embryonic Development, Gene Expression Regulation, Developmental, Humans, DNA Methylation, Embryo, Mammalian
Abstract

In mouse and most other mammalian species, the paternal and maternal genomes undergo parent-specific epigenetic reprogramming during preimplantation development. The paternal genome is actively demethylated within a few hours after fertilization in the mouse, rat, pig, bovine, and human zygote, whereas the maternal genome is passively demethylated by a replication-dependent mechanism after the two-cell embryo stage. These genome-wide demethylation waves may have a role in reprogramming of the genetically inactive sperm and egg chromatin for somatic development. Disturbances in this highly coordinated process may contribute to developmental failures and defects in mammals. The frequency and severity of abnormal phenotypes increase after interfering with or bypassing essential steps of gametogenesis, early embryogenesis, or both. Nevertheless, it is plausible that normal fertilization, assisted reproduction, and embryo cloning are all susceptible to similar dysregulation of epigenetic components. Although the mouse maybe an excellent model for early human development, species and strain differences in the molecular and cellular events shortly after fertilization may have important implications for the efficiency of epigenetic reprogramming and the incidence of reprogramming defects. Some species, i.e., rabbit and sheep, do not require drastic genome-wide demethylation for early development, most likely because the transition from maternal to embryonic control occurs relatively late during preimplantation development. A better understanding of key reprogramming factors--in particular the demethylase activity in the fertilized egg--is crucial for improving human infertility treatment and the efficiency of mammalian embryo cloning.

Published
2006

44. Chromosome banding in Amphibia. XXX. Karyotype aberrations in cultured fibroblast cells

Author

M, Schmid, C, Steinlein, and T, Haaf

Subjects
Chromosome Aberrations, Male, Species Specificity, Karyotyping, Animals, Chromosome Breakage, Anura, Fibroblasts, Kidney, Bufonidae, Cells, Cultured, Chromosome Banding
Abstract

The present study reports for the first time on the numerical and structural chromosome anomalies that spontaneously arise in aging cultured fibroblast cells of Amphibia. The analyses were conducted on kidney fibroblasts of three anuran species with extremely divergent genome sizes (Bufo rubropunctatus, Scaphiopus holbrooki, Gastrotheca riobambae), in the sixth up to the 14th culture passage. The chromosomal rearrangements were identified by means of the 5-bromodeoxyuridine/deoxythymidine (BrdU/dT) replication banding technique. The aberrations can be either confined to a single chromosome, or else involve all chromosomes of the karyotype. The most frequent structural aberrations in the cell cultures of S. holbrooki and G. riobambae are tandem fusions between two or more chromosomes. These tandem fusions originating in vitro in long-termed cell cultures reflect the chromosome mutations which also took place during amphibian phylogenesis.

Published
2003

45. Chromosome banding in Amphibia. XXVII. DNA replication banding patterns in three anuran species with greatly differing genome sizes

Author

M, Schmid, C, Steinlein, and T, Haaf

Subjects
DNA Replication, Genome, Bromodeoxyuridine, Species Specificity, Karyotyping, Animals, DNA, Anura, Chromosome Banding
Abstract

The mitotic chromosomes of three anuran species, Scaphiopus holbrooki, Litoria infrafrenata and Odontophrynus americanus, were analyzed by means of the 5-bromodeoxyuridine/deoxythymidine (BrdU/dT) replication banding technique. These species exhibit large differences in their genome sizes: S. holbrooki possesses one of the smallest genomes among vertebrates, L. infrafrenata has a genome size near the modal DNA value of most Amphibia, whereas O. americanus is a tetraploid species. BrdU/dT labeling induces reproducible and reliable R- and G-replication bands along the metaphase chromosomes of all three species. Irrespective of the genome size of the species considered, the number of early (R-) and late (G-) replicating bands per haploid karyotype is nearly the same. The chromosomes of the autotetraploid O. americanus can be arranged into sets of four homologous chromosomes (quartets). C-bands and BrdU/dT replication bands reveal heterogeneity within the quartets 1, 3 and 4 that are interpreted as the initiation of a diploidization process.

Published
2003

46. Chromosome banding in Amphibia. XXIV. The B chromosomes of Gastrotheca espeletia (Anura, Hylidae)

Author

M, Schmid, C G, Ziegler, C, Steinlein, I, Nanda, and T, Haaf

Subjects
Male, Karyotyping, Nucleolus Organizer Region, Animals, Female, Anura, Telomere, In Situ Hybridization, Chromosome Banding
Abstract

The mitotic chromosomes of an Ecuadorian population of the marsupial frog Gastrotheca espeletia were analyzed by means of banding techniques and fluorescence in situ hybridization. This species is characterized by unusual supernumerary (B) chromosomes. The maximum number of B chromosomes is 9 and they occur in three different morphological types. Banding analyses show that the B chromosomes are completely heterochromatic, consist of AT base pair-rich repeated DNA sequences, replicate their DNA in very late S-phase of the cell cycle, and are probably derived from a centromeric or paracentromeric region of a standard (A) chromosome. Exceptionally, the B chromosomes carry 18S + 28S ribosomal RNA genes and the conserved vertebrate telomeric DNA sequence appears to be underrepresented. Flow cytometric measurements of the nuclear DNA content differentiate between individuals with different numbers of B chromosomes. Significantly more B chromosomes are present in female than in male animals.

Published
2002

47. Chromosome banding in Amphibia. XXII. Atypical y chromosomes in Gastrotheca walkeri and Gastrotheca ovifera (Anura, Hylidae)

Author

M, Schmid, W, Feichtinger, C, Steinlein, I, Nanda, C, Mais, T, Haaf, R, Visbal García, and A, Fernández Badillo

Subjects
Male, Meiosis, Embryo, Nonmammalian, X Chromosome, Karyotyping, Y Chromosome, Animals, Female, DNA, Anura, Flow Cytometry, Metaphase, Chromosome Banding
Abstract

The chromosomes of the rare South American marsupial frogs Gastrotheca walkeri and G. ovifera were extensively reexamined with various banding techniques. The karyotypes of both species are distinguished by a new category of XY female symbol /XX male symbol female sex chromosomes. The unusual Y chromosomes are characterized by containing the least amount of constitutive heterochromatin in the karyotypes. This is in contrast to all previously known amphibian Y chromosomes and does not fit the evolutionary model of early XY differentiation in vertebrates. In male meiosis, the heteromorphic XY chromosomes of both species still exhibit the same pairing configurations as the autosomes. DNA flow cytometric measurements show the nuclear DNA amount of G. walkeri to be 10.90 pg. The significance of the XY/XX sex chromosomes of these marsupial frogs, the various classes of constitutive heterochromatin detected, and the data obtained from meiotic analyses are discussed in detail.

Published
2002

48. Chromosome banding in amphibia. XXIII. Giant W sex chromosomes and extremely small genomes in Eleutherodactylus euphronides and Eleutherodactylus shrevei (Anura, Leptodactylidae)

Author

M, Schmid, W, Feichtinger, C, Steinlein, A, Rupprecht, T, Haaf, and H, Kaiser

Subjects
Male, Genome, Sex Chromosomes, Saint Vincent and the Grenadines, DNA, Chromatin, Chromosome Banding, Species Specificity, Karyotyping, Grenada, Animals, Female, Anura, Base Pairing, Interphase, In Situ Hybridization, Fluorescence, Fluorescent Dyes
Abstract

Highly differentiated, heteromorphic ZZ female symbol /ZW male symbol sex chromosomes were found in the karyotypes of the neotropical leptodactylid frogs Eleutherodactylus euphronides and E. shrevei. The W chromosomes are the largest heterochromatic, female-specific chromosomes so far discovered in the class Amphibia. The analyses of the banding patterns with AT- and GC base-pair specific fluorochromes show that the constitutive heterochromatin in the giant W chromosomes consists of various categories of repetitive DNA sequences. The W chromosomes of both species are similar in size, morphology and banding patterns, whereas their Z chromosomes exhibit conspicuous differences. In the cell nuclei of female animals, the W chromosomes form very prominent chromatin bodies (W chromatin). DNA flow cytometric measurements demonstrate clear differences in the DNA content of male and female erythrocytes caused by the giant W chromosome, and also shows that these Eleutherodactylus genomes are among the smallest of all amphibian genomes. The importance of the heteromorphic ZW sex chromosomes for the study of Z-linked genes, the similarities and differences of the two karyotypes, and the significance of the exceptionally small genomes are discussed.

Published
2002

49. Chromosome banding in Amphibia. XXV. Karyotype evolution and heterochromatin characterization in Australian Mixophyes (Anura, Myobatrachidae)

Author

M, Schmid, T, Haaf, C, Steinlein, I, Nanda, and M, Mahony

Subjects
Heterochromatin, Karyotyping, Nucleolus Organizer Region, Animals, Anura, Chromosome Banding
Abstract

The mitotic chromosomes of the Australian ground frogs Mixophyes fasciolatus and M. schevilli were analyzed by means of banding techniques and restriction endonuclease digestions. Chromosomal differentiation in these two species occurred exclusively by considerable changes in the amount of telomeric and centromeric heterochromatin, whereas the sizes and locations of interstitial heterochromatic regions, the sizes of all euchromatic segments as well as the positions of centromeres remained nearly identical during karyotype evolution. The major heterochromatic regions in the karyotypes of M. fasciolatus and M. schevilli amount to 30.2% and 20.7%, respectively. They consist of AT base pair-rich repetitive DNA sequences that are brightly labeled by AT-specific fluorochromes and display quenched fluorescence after staining with GC-specific fluorochromes. The heterochromatic regions can be differentiated by treatment of metaphase chromosomes and interphase cell nuclei with various restriction enzymes which either disclose the complete set of C-band patterns in the karyotypes of both species, or else reveal several subsets of these C-bands.

Published
2002

50. Chromosome banding in Amphibia. XXVI. Coexistence of homomorphic XY sex chromosomes and a derived Y-autosome translocation in Eleutherodactylus maussi (Anura, Leptodactylidae)

Author

M, Schmid, W, Feichtinger, C, Steinlein, T, Haaf, M, Schartl, R, Visbal García, J, Manzanilla Pupo, and A, Fernández Badillo

Subjects
Male, Genome, Sex Chromosomes, X Chromosome, Sex Determination Processes, Flow Cytometry, Translocation, Genetic, Chromosome Banding, Karyotyping, Y Chromosome, Animals, Female, Anura, In Situ Hybridization, Fluorescence
Abstract

A 15-year cytogenetic survey on one population of the leaf litter frog Eleutherodactylus maussi in northern Venezuela confirmed the existence of multiple XXAA male symbol /XAA(Y) female symbol sex chromosomes which originated by a centric (Robertsonian) fusion between the original Y chromosome and an autosome. 95% of the male individuals in this population are carriers of this Y-autosome fusion. In male meiosis the XAA(Y) sex chromosomes pair in the expected trivalent configuration. In the same population, 5% of the male animals still possess the original, free XY sex chromosomes. In a second population of E. maussi analyzed, all male specimens are characterized by these ancestral XY chromosomes which form normal bivalents in meiosis. E. maussi apparently represents the first vertebrate species discovered in which a derived Y-autosome fusion still coexists with the ancestral free XY sex chromosomes. The free XY sex chromosomes, as well as the multiple XA(Y) sex chromosomes are still in a very primitive (homomorphic) stage of differentiation. With no banding technique applied it is possible to distinguish the Y from the X. DNA flow cytometric measurements show that the genome of E. maussi is among the largest in the anuran family Leptodactylidae. The present study also supplies further data on differential chromosome banding and fluorescence in situ hybridization experiments in this amphibian species.

Published
2002

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