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1. Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication

Author

Jeremy A. Johnson, Guillaume Queney, Sarah Young, G. Bolet, Frank W. Albert, Anqi Xiong, Gerli Pielberg, Rose G. Mage, Leif Andersson, Samuel Boucher, Alvaro Martinez Barrio, Shady Younis, Carl-Johan Rubin, Nima Rafati, Kerstin Lindblad-Toh, Magali Ruffier, Eric S. Lander, Sandra Afonso, Bronwen Aken, Shumaila Sayyab, Federica Di Palma, Miguel Carneiro, Claire Rogel-Gaillard, Jessica Alföldi, Karin Forsberg-Nilsson, Jeffrey M. Good, Nuno Ferrand, Steve Searle, Rita Campos, Jean L. Chang, Luca Fontanesi, Daniel Barrell, Rafael Villafuerte, Hernán A. Burbano, Joel M. Alves, Ze Peng, Hervé Garreau, David I. Heiman, Véronique Duranthon, Jason Turner-Maier, Centro de Investigaçao em Biodiversidade e Recursos Genéticos, Science of Life Laboratory Uppsala - Department of Medical Biochemistry and Microbiology, Uppsala University, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Vertebrate and Health Genomics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology [Leipzig], Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Department of Human Genetics, University of California, Science of Life Laboratory Uppsala - Department of Medical Biochemistry and Microbioology, Department of Animal Bredding and Genetics, Swedish University of Agricultural Sciences (SLU), Department of Animal Production, Université Ain Shams, The Wellcome Trust Sanger Institute [Cambridge], University of Cambridge [UK] (CAM), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Labovet Conseil, Max-Planck-Gesellschaft, Biologie du développement et reproduction (BDR), Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Department of Agricultural and Food Sciences - Division of Animal Sciences, Alma Mater Studiorum University of Bologna (UNIBO), Laboratory of Immunology, National Institute of Allergy and Infectious Deseases (NIAID), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), Antagene - Animal Genomics Laboratory, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Spanish National Research Council (CSIC), Science for Life Laboratory - Department of Immunology , Genetics and Pathology, Science for Life Laboratory - Department of Immunology, Genetics and Pathology, Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, U54 HG003067 NHGRI NIH HHS, WT095908 Wellcome Trust, WT098051 Wellcome Trust, Carneiro, Miguel, Rubin, Carl-Johan, Palma, Federica Di, Albert, Frank W., Alföldi, Jessica, Barrio, Alvaro Martinez, Pielberg, Gerli, Rafati, Nima, Sayyab, Shumaila, Turner-Maier, Jason, Younis, Shady, Afonso, Sandra, Aken, Bronwen, Alves, Joel M., Barrell, Daniel, Bolet, Gerard, Boucher, Samuel, Burbano, Hernán A., Campos, Rita, Chang, Jean L., Duranthon, Veronique, Fontanesi, Luca, Garreau, Herve, Heiman, David, Johnson, Jeremy, Mage, Rose G., Peng, Ze, Queney, Guillaume, Rogel-Gaillard, Claire, Ruffier, Magali, Searle, Steve, Villafuerte, Rafael, Xiong, Anqi, Young, Sarah, Forsberg-Nilsson, Karin, Good, Jeffrey M., Lander, Eric S., Ferrand, Nuno, Lindblad-Toh, Kerstin, Andersson, Leif, Max Planck Institute for Evolutionary Anthropology, Department of Animal Breeding and Genetics, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT], Biologie du Développement et Reproduction (BDR), and Institut National de la Recherche Agronomique (INRA)

Subjects
Molecular Sequence Data, Animals, Wild, Single-nucleotide polymorphism, Rabbit, Breeding, Biology, Polymorphism, Single Nucleotide, Genome, Article, Evolution, Molecular, Gene Frequency, Animals, Selection, Genetic, Allele, Domestication, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Gene, Allele frequency, Genetics, Multidisciplinary, Base Sequence, Behavior, Animal, Animal, Medicine (all), Sequence Analysis, DNA, Phenotype, Genetic Loci, Animals, Domestic, Rabbits, Reference genome
Abstract

Rabbits softly swept to domestication When people domesticate animals, they select for tameness and tolerance of humans. What else do they look for? To identify the selective pressures that led to rabbit domestication, Carneiro et al. sequenced a domestic rabbit genome and compared it to that of its wild brethren (see the Perspective by Lohmueller). Domestication did not involve a single gene changing, but rather many gene alleles changing in frequency between tame and domestic rabbits, known as a soft selective sweep. Many of these alleles have changes that may affect brain development, supporting the idea that tameness involves changes at multiple loci. Science , this issue p. 1074 ; see also p. 1000

Published
2014

2. Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences

Author

Frances Letendre, Vasilia Magnisalis, Helen Vassiliev, Rebecca Reyes, Maura Costello, St Christophe Acer, Pen MacDonald, Geneva Young, Katherine Thompson, Iain MacCallum, Tarjei S. Mikkelsen, Andy Vo, Eva Markiewicz, Yeshi Lokyitsang, Sharon Stavropoulos, Rachel Mittelman, Xiaohui Xie, Diallo Ferguson, James Cuff, Terence P. Speed, Catherine Stone, Tanya Mihova, Janine E. Deakin, Aaron M. Berlin, David A. Ray, David D. Pollock, Ben Kanga, Kunsang Gyaltsen, Scott Anderson, Gary Gearin, Nabil Hafez, Lisa Chuda, Marco A. Marra, David B. Jaffe, Leonid Boguslavskiy, Asha Kamat, Jonathan Butler, Alicia Franke, Lynne Aftuck, Sheridon Channer, Rosie Levine, Kerstin Lindblad-Toh, Birhane Hagos, Imane Bourzgui, Monika D. Huard, Tamrat Negash, Jamal Abdulkadir, Tsering Wangchuk, Georgius De Haan, Sheila Fisher, Justin Abreu, Abderrahim Farina, Kebede Maru, M. Erii Husby, Peter Kisner, Kunsang Dorjee, Jacob L. Glass, Tashi Lokyitsang, Nyima Norbu, Jennifer Baldwin, Christina R. Gearin, Otero L. Oyono, Atanas Mihalev, Yama Thoulutsang, Katie D'Aco, Choe Norbu, Christopher Strader, Edda Koina, Allen Alexander, Barry O'Neill, William Brockman, Wanjun Gu, Richard Elong, Keenan Ross, Shailendra Yadav, Alan Dupes, Seva Kashin, James Meldrim, Dmitry Khazanovich, Passang Dorje, Adal Abebe, April Cook, Matthew Breen, Randy L. Jirtle, Shangtao Liu, Jean L. Chang, Patrick Cahill, Claire M. Wade, Chee Whye Chin, Dennis C. Friedrich, Tina Goode, Cecil Rise, Robert D. Nicholls, Peter Rogov, Adam Brown, Oana Mihai, Sujaa Raghuraman, Adam Wilson, Marcia Lara, Chelsea D. Foley, Susan Faro, Sampath Settipalli, Thu Nguyen, Matthew Wakefield, Xiaohong Liu, Anna Montmayeur, Jerzy Jurka, Ngawang Sherpa, Riza M. Daza, Evan Mauceli, Senait Tesfaye, Sharleen Grewal, Susan McDonough, Leo Goodstadt, Manuel Garber, John M. Greally, Valentine Mlenga, Manfred Grabherr, Charles Matthews, Andrew Zimmer, Teena Mehta, Harindra Arachi, Mark A. Batzer, Rakela Lubonja, Margaret Priest, Diana Shih, Joseph Graham, Panayiotis V. Benos, Lance S. Davidow, Alex Lipovsky, Stephen M. J. Searle, Andreas Heger, Timothy A. Hore, Patrick Cooke, Leonidas Mulrain, Tsering Wangdi, Jennifer A. Marshall Graves, Sante Gnerre, Michelle L. Baker, Jacqueline E. Schein, Michael Weiand, Jessica Spaulding, Charlotte Henson, Jane Wilkinson, Terry Shea, Shannon E. Duke, William McCusker, Kerri Topham, Jerome Naylor, Lu Shi, Fritz Pierre, Claude Bonnet, Shaun Mahony, Michele Clamp, Katherine Belov, John L. VandeBerg, Nicole Stange-Thomann, Annie Lui, Radhika Das, Pema Phunkhang, Andrew J. Gentles, Elizabeth P. Ryan, Erica Anderson, Jill Falk, Bronwen Aken, Robert Nicol, Ted Sharpe, Sahal Osman, Missole Doricent, Michael Kleber, Jeannie T. Lee, Paul D. Waters, Melissa Fazzari, Jinlei Liu, Loryn Gadbois, Lisa Zembek, Daniel Bessette, Pasang Bachantsang, Adam Navidi, Caleb Webber, Tashi Bayul, Brikti Abera, Mayumi Oda, Gavin A. Huttley, Jennifer L. Hall, Chris P. Ponting, Michael Kamal, Kimberly Dooley, Mieke Citroen, Tsamla Tsamla, Ira Topping, Eric S. Lander, Edward Grandbois, Christopher Patti, Louis Meneus, Tracey Honan, Zuly E. Parra, Nga Nguyen, Todd Sparrow, Dawa Thoulutsang, Leanne Hughes, Yama Cheshatsang, Qing Yu, Niall J. Lennon, Nathaniel Novod, Christina Demaso, Anthony T. Papenfuss, Paul B. Samollow, Toby Bloom, Andrew Hollinger, Boris Boukhgalter, Talene Thomson, Zac Zwirko, Georgia Giannoukos, Michael C. Zody, Danni Zhong, Jason Blye, Stuart DeGray, Marc Azer, Robert D. Miller, Amr Abdouelleil, Brian Hurhula, Filip Rege, John Stalker, Andrew Barry, Pablo Alvarez, Norbu Dhargay, Krista Lance, Chris T. Amemiya, Jerilyn A. Walker, Jennifer R. Weidman, Peter An, Erin E. Dooley, William Lee, and Alville Collymore

Subjects
Genetics, Base Composition, Genome evolution, Genome, Multidisciplinary, Genomics, Opossums, Biology, biology.organism_classification, Polymorphism, Single Nucleotide, Synteny, Monodelphis domestica, Evolution, Molecular, X Chromosome Inactivation, Opossum, Molecular evolution, Protein Biosynthesis, DNA Transposable Elements, Animals, Humans, Gene family, Gene conversion, Conserved Sequence
Abstract

We report a high-quality draft of the genome sequence of the grey, short-tailed opossum (Monodelphis domestica). As the first metatherian ('marsupial') species to be sequenced, the opossum provides a unique perspective on the organization and evolution of mammalian genomes. Distinctive features of the opossum chromosomes provide support for recent theories about genome evolution and function, including a strong influence of biased gene conversion on nucleotide sequence composition, and a relationship between chromosomal characteristics and X chromosome inactivation. Comparison of opossum and eutherian genomes also reveals a sharp difference in evolutionary innovation between protein-coding and non-coding functional elements. True innovation in protein-coding genes seems to be relatively rare, with lineage-specific differences being largely due to diversification and rapid turnover in gene families involved in environmental interactions. In contrast, about 20% of eutherian conserved non-coding elements (CNEs) are recent inventions that postdate the divergence of Eutheria and Metatheria. A substantial proportion of these eutherian-specific CNEs arose from sequence inserted by transposable elements, pointing to transposons as a major creative force in the evolution of mammalian gene regulation.

Published
2007

3. DNA sequence and analysis of human chromosome 18

Author

Chad, Nusbaum, Michael C, Zody, Mark L, Borowsky, Michael, Kamal, Chinnappa D, Kodira, Todd D, Taylor, Charles A, Whittaker, Jean L, Chang, Christina A, Cuomo, Ken, Dewar, Michael G, FitzGerald, Xiaoping, Yang, Amr, Abouelleil, Nicole R, Allen, Scott, Anderson, Toby, Bloom, Boris, Bugalter, Jonathan, Butler, April, Cook, David, DeCaprio, Reinhard, Engels, Manuel, Garber, Andreas, Gnirke, Nabil, Hafez, Jennifer L, Hall, Catherine Hosage, Norman, Takehiko, Itoh, David B, Jaffe, Yoko, Kuroki, Jessica, Lehoczky, Annie, Lui, Pendexter, Macdonald, Evan, Mauceli, Tarjei S, Mikkelsen, Jerome W, Naylor, Robert, Nicol, Cindy, Nguyen, Hideki, Noguchi, Sinéad B, O'Leary, Keith, O'Neill, Bruno, Piqani, Cherylyn L, Smith, Jessica A, Talamas, Kerri, Topham, Yasushi, Totoki, Atsushi, Toyoda, Hester M, Wain, Sarah K, Young, Qiandong, Zeng, Andrew R, Zimmer, Asao, Fujiyama, Masahira, Hattori, Bruce W, Birren, Yoshiyuki, Sakaki, and Eric S, Lander

Subjects
Expressed Sequence Tags, Multidisciplinary, Genome, Human, Molecular Sequence Data, DNA, Exons, Sequence Analysis, DNA, Aneuploidy, Synteny, Introns, Genes, Animals, Humans, CpG Islands, Chromosomes, Human, Pair 18, Conserved Sequence
Abstract

Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.

Published
2005

4. The ENCODE (ENCyclopedia Of DNA Elements) Project

Author

Jonathan H. Dennis, Michael Brudno, Anindya Dutta, Richard M. Myers, Ian Dunham, Eduardo Eyras, S. S. Marticke, Alexandre Reymond, Anason S. Halees, Greg Schuler, M. G. Rosenfeld, Mikhail Nefedov, Robert E. Kingston, Elizabeth Anton, Tyra G. Wolfsberg, Alice C. Young, Kris A. Wetterstrand, C. K. Glass, Nancy F. Hansen, Gayle K. Clelland, Diane I. Schroeder, Jean L. Chang, H. Shin, Zhou Zhu, Nigel P. Carter, William Stafford Noble, Jenny McDowell, Ugrappa Nagalakshmi, Heike Fiegler, Philipp Kapranov, Peggy J. Farnham, Joanna C. Fowler, S. C. Harvey, Michael O. Dorschner, D. R. Inman, George V. Popescu, Jan-Jaap Wesselink, P. Groth, Baoli Zhu, H. Hirsch, James C. Wallace, Elise A. Feingold, S. Jin, Gabriel Robins, Thomas R. Gingeras, F. Denoeud, W. Tongprasit, Robert Castelo, Ross C. Hardison, John A. Stamatoyannopoulos, Joel Rozowsky, Eric A. Stone, Zheng Lian, J. E. Norton, Y. S. Kwon, Viktor Stolc, Michael C. Pirrung, Min-Feng Yu, A. Yang, W. J. Kent, Peter J. Sabo, Stephen Hartman, Stylianos E. Antonarakis, Tae Hoon Kim, H. Kim, Baishali Maskeri, Thomas Royce, R. Luna, Sherman M. Weissman, Tim Hubbard, Oliver M. Dovey, Ewan Birney, Kate R. Rosenbloom, Robert M. Andrews, Damian Keefe, Arend Sidow, D. Zhou, Jane Grimwood, Ulas Karaoz, Zhiping Weng, H. Burden, Michael C. Zody, Hiram Clawson, Gerry Bouffard, S. van Calcar, Mark Dickson, Kevin Struhl, Ingeborg Holt, Emmanouil T. Dermitzakis, T. J. Vasicek, Peter J. Good, Charles R. Cantor, Hari Tammana, Josée Dostie, Prachi Shah, Elliott H. Margulies, Peter D. Ellis, Mark S. Guyer, Christopher M. Taylor, Patrick A. Navas, Dione Kampa, Colin N. Dewey, Lior Pachter, Christof Koch, George Asimenos, James R R Whittle, Gregory E. Crawford, Jane B. Lian, Pamela J. Thomas, Kazutoyo Osoegawa, Webb Miller, Chunxu Qu, Nele Gheldof, Keith D. James, Sandeep Patel, Todd Richmond, Jacquelyn R. Idol, Michael A. Singer, Tomoko M. Tabuchi, Adam Siepel, Yutao Fu, David Vetrie, Long H. Nguyen, Michael Snyder, William H. Majoros, Michael R. Brent, Nathan D. Trinklein, Leah O. Barrera, Mark Gerstein, Srinka Ghosh, Sara J. Hartman, Jade P. Vinson, C. L. Middle, Sambath Chung, George Stamatoyannopoulos, Y. Nakayama, George M. Church, Job Dekker, Olof Emanuelsson, Julien Lagarde, Roderic Guigó, Marco A. Marra, Jeremy Schmutz, Daryl J. Thomas, Yong Yu, M. R. McCormick, Xiang-Dong Fu, Richard Humbert, Jennifer L. Ashurst, Alexander E. Urban, Sarah Wilcox, Ghia Euskirchen, Michael Kamal, Cordelia Langford, Jacquie Schein, Gregory M. Cooper, Paul Bertone, Eric S. Lander, C. Ding, Antonio Piccolboni, Steven L. Salzberg, Rhonda Harrison, Matthew J. Oberley, E. A. Sekinger, Mihaela Pertea, Bing Ren, H. K. Kim, Roland Green, Shelley Force Aldred, Laura Elnitski, Michael Hawrylycz, Andrew J. Mungall, Kerstin Lindblad-Toh, David B. Jaffe, Andreas D. Baxevanis, L. Liefer, Michele Clamp, David Haussler, Jill Cheng, John L. Rinn, S. Kamholz, Vicki L. Wraight, H. Sethi, Francis S. Collins, Steven J.M. Jones, Serafim Batzoglou, P. J. De Jong, Matthew E. Portnoy, Stefan Bekiranov, M. McArthur, Shu-Jin Luo, Eric D. Green, Robert W. Blakesley, Tarjei S. Mikkelsen, Z. Ye, Pawandeep Dhami, and Neerja Karnani

Subjects
Pilot phase, Pilot Projects, Computational biology, Regulatory Sequences, Nucleic Acid, Biology, ENCODE, Access to Information, Evolution, Molecular, Annotation, chemistry.chemical_compound, Animals, Humans, International HapMap Project, Conserved Sequence, Publishing, Genetics, Internet, Multidisciplinary, Genome, Human, Information Dissemination, GENCODE, Computational Biology, Proteins, Genomics, Sequence Analysis, DNA, United States, National Institutes of Health (U.S.), chemistry, Encyclopedia, Human genome, Databases, Nucleic Acid, DNA
Abstract

The ENCyclopedia Of DNA Elements (ENCODE) Project aims to identify all functional elements in the human genome sequence. The pilot phase of the Project is focused on a specified 30 megabases (∼1%) of the human genome sequence and is organized as an international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function. The results of this pilot phase will guide future efforts to analyze the entire human genome.

Published
2004

5. A semiautomated approach to gene discovery through expressed sequence tag data mining: Discovery of new human transporter genes

Author

Patricia C. Babbitt, Jean l. Chang, Wolfgang Sadee, and Shoshana D. Brown

Subjects
Genetics, Internet, Expressed sequence tag, Biological Transport, Active, Computational Biology, Pharmaceutical Science, Context (language use), Biology, Article, Major facilitator superfamily, Sequence-tagged site, Multigene Family, Databases, Genetic, Humans, Identification (biology), Human genome, Carrier Proteins, Gene, Biotechnology, Sequence Tagged Sites, Sequence (medicine)
Abstract

Identification and functional characterization of the genes in the human genome remain a major challenge. A principal source of publicly available information used for this purpose is the National Center for Biotechnology Information database of expressed sequence tags (dbEST), which contains over 4 million human ESTs. To extract the information buried in this data more effectively, we have developed a semiautomated method to mine dbEST for uncharacterized human genes. Starting with a single protein input sequence, a family of related proteins from all species is compiled. This entire family is then used to mine the human EST database for new gene candidates. Evaluation of putative new gene candidates in the context of a family of characterized proteins provides a framework for inference of the structure and function of the new genes. When applied to a test data set of 28 families within the major facilitator superfamily (MFS) of membrane transporters, our protocol found 73 previously characterized human MFS genes and 43 new MFS gene candidates. Development of this approach provided insights into the problems and pitfalls of automated data mining using public databases.

Published
2003

6. Identification of mixups among DNA sequencing plates

Author

Jessica A. Lehoczky, Jean L. Chang, Nikola Stojanovic, Ken Dewar, and Michael C. Zody

Subjects
Quality Control, Statistics and Probability, 2 base encoding, Sequence assembly, Hybrid genome assembly, Documentation, Computational biology, Biology, Models, Biological, Sensitivity and Specificity, Biochemistry, DNA sequencing, Contig Mapping, Human Genome Project, Humans, Computer Simulation, Molecular Biology, Alignment-free sequence analysis, Oligonucleotide Array Sequence Analysis, Genetics, Models, Statistical, Contig, Shotgun sequencing, Reproducibility of Results, DNA sequencing theory, Sequence Analysis, DNA, Computer Science Applications, Equipment Failure Analysis, Computational Mathematics, Computational Theory and Mathematics, Research Design, Artifacts, Sequence Alignment, Algorithms
Abstract

Motivation: During the process of high-throughput genome sequencing there are opportunities for mixups of reagents and data associated with particular projects. The sequencing templates or sequence data generated for an assembly may become contaminated with reagents or sequences from another project, resulting in poorer quality and inaccurate assemblies. Results: We have developed a system to assess sequence assemblies and monitor for laboratory mixups. We describe several methods for testing the consistency of assemblies and resolving mixed ones. We use statistical tests to evaluate the distribution of sequencing reads from different plates into contigs, and a graph-based approach to resolve situations where data has been inappropriately combined. While these methods have been designed for use in a high-throughput DNA sequencing environment processing thousands of clones, they can be applied in any situation where distinct sequencing projects are performed at redundant coverage. Availability: Our software is available for downloading from: ftp-genome.wi.mit.edu/distribution/mixups_detection Contact: nick@genome.wi.mit.edu * To whom correspondence should be addressed.

Published
2002

7. Evolution of genes and genomes on the Drosophila phylogeny

Author

Adam M. Phillippy, Edward Grandbois, Pen MacDonald, Iain MacCallum, Laura K. Reed, Wojciech Makalowski, Tracey Honan, Tania Tassinari Rieger, Melissa J. Hubisz, Josep M. Comeron, Douglas Smith, Jennifer Godfrey, Sebastian Strempel, Amr Abdouelleil, Brenton Gravely, Harindra Arachi, Albert J. Vilella, Marc Azer, Sarah A. Teichmann, Roger A. Hoskins, Corbin D. Jones, Keenan Ross, Derek Wilson, Stuart J. Newfeld, John Stalker, Thomas D. Watts, Dennis C. Friedrich, Therese A. Markow, Michael U. Mollenhauer, Tina Goode, Geneva Young, Terry Shea, Krista Lance, Karin A. Remington, Kevin A. Edwards, Lynne Aftuck, Cecil Rise, Sheridon Channer, Matthew D. Rasmussen, Nicole Stange-Thomann, Annie Lui, Robert A. Reenan, Todd Sparrow, Dave Begun, Tamrat Negash, Laura K. Sirot, Adrianne Brand, Adam Brown, Daisuke Yamamoto, Pema Phunkhang, Justin Abreu, Russell Schwartz, Ana Llopart, Abderrahim Farina, Kebede Maru, Chung-I Wu, Allen Alexander, Scott Anderson, So Jeong Lee, Jason Blye, Gary H. Karpen, Wilfried Haerty, Daniel A. Barbash, Peter Rogov, Barry O'Neill, Rachel Mittelman, Jakob Skou Pedersen, Leanne Hughes, Robert K. Bradley, Graziano Pesole, Wyatt W. Anderson, Anthony J. Greenberg, Alejandro Sánchez-Gracia, Julio Rozas, Stephen W. Schaeffer, Yama Thoulutsang, Roger K. Butlin, David H. Ardell, Stuart DeGray, Chris P. Ponting, Deborah E. Stage, Corrado Caggese, Montserrat Aguadé, Casey M. Bergman, Diallo Ferguson, Peili Zhang, Jeffrey R. Powell, Hajime Sato, Xiaohong Liu, Marta Sabariego Puig, Michael Parisi, Passang Dorje, Yoshihiko Tomimura, Adal Abebe, Carlo G. Artieri, Brian Hurhula, Filip Rege, Peter D. Keightley, Andrew Barry, Pablo Alvarez, Tsamla Tsamla, Marvin Wasserman, Santosh Jagadeeshan, Daniel L. Halligan, Chelsea D. Foley, Kim D. Delehaunty, Manfred Grabherr, Sourav Chatterji, Angela N. Brooks, James C. Costello, Mieke Citroen, James A. Yorke, Hsiao Pei Yang, Charles Chapple, Jian Lu, Carlos A. Machado, Norbu Dhargay, Tsering Wangchuk, Anat Caspi, Patrick Cahill, Tashi Bayul, Lisa Levesque, Otero L. Oyono, Atanas Mihalev, Dawa Thoulutsang, Dawn N. Abt, Sujaa Raghuraman, Manyuan Long, Maria Mendez-Lago, Charles Matthews, Kimberly Dooley, Alex Wong, Melanie A. Huntley, William R. Jeck, Ira Topping, Ben Kanga, José P. Abad, Ana Cristina Lauer Garcia, Brikti Abera, Kunsang Gyaltsen, Jonathan Butler, Alicia Franke, Michael C. Schatz, Cheewhye Chin, Charles F. Aquadro, Justin Johnson, Bryant F. McAllister, Georgia Giannoukos, M. Erii Husby, Rod A. Wing, Shangtao Liu, Jean L. Chang, Jennifer Daub, Eiko Kataoka, Leopold Parts, Rakela Lubonja, Margaret Priest, Yoshiko N. Tobari, Teena Mehta, Evgeny M. Zdobnov, Yeshi Lokyitsang, Richard Elong, Matthew J. Parisi, Louis Meneus, Eric S. Lander, Alan Filipski, Gary Gearin, Nabil Hafez, Nicholas Sisneros, David B. Jaffe, Ian Holmes, Marina Sirota, Leonid Boguslavskiy, Lisa Chuda, LaDeana W. Hillier, Meizhong Luo, Phil Batterham, Michael Kleber, Richard K. Wilson, Yama Cheshatsang, Qing Yu, Rebecca Reyes, Matthew W. Hahn, Andreas Heger, Mar Marzo, Patrick Minx, Kerstin Lindblad-Toh, Vera L. S. Valente, Adam Wilson, William C. Jordan, Mohamed A. F. Noor, Chiao-Feng Lin, Asha Kamat, Heather Ebling, Mihai Pop, Frances Letendre, Mariana F. Wolfner, Don Gilbert, Ngawang Sherpa, Riza M. Daza, Oana Mihai, Gabriel C. Wu, Aaron M. Berlin, Ewen F. Kirkness, Monika D. Huard, Robert S. Fulton, Randall H. Brown, Danni Zhong, Sharon Stavropoulos, Venky N. Iyer, Xu Mu, Christina R. Gearin, David M. Rand, Jerry A. Coyne, Dan Hultmark, Jill Falk, Christopher Patti, Montserrat Papaceit, James Meldrim, Valentine Mlenga, Muneo Matsuda, Sven Findeiß, Todd A. Schlenke, Kevin McKernan, Brian P. Walenz, Timothy B. Sackton, Leonardo Koerich, Peter An, Robert Nicol, Chuong B. Do, Dmitry Khazanovich, Carmen Segarra, Maura Costello, St Christophe Acer, Claudia Rohde, Serafim Batzoglou, Hadi Quesneville, Evan Mauceli, Andy Vo, Luciano M. Matzkin, Susan E. Celniker, Patrick M. O’Grady, William M. Gelbart, Lloyd Low, Jamal Abdulkadir, Jessica Spaulding, Brian R. Calvi, Charlotte Henson, Robert David, Jennifer L. Hall, Andrew G. Clark, Anastasia Gardiner, Susan M. Russo, Birhane Hagos, Kerri Topham, Amy Denise Reily, Eli Venter, Jerome Naylor, Sandra W. Clifton, Valer Gotea, Samuel R. Gross, Manolis Kellis, Claude Bonnet, Christopher Strader, Tashi Lokyitsang, Nyima Norbu, Jennifer Baldwin, Stephen M. Mount, Robert L. Strausberg, Shailendra Yadav, Kristipati Ravi Ram, Steven L. Salzberg, Erik Gustafson, David A. Garfield, Eva Freyhult, Arthur L. Delcher, Enrico Blanco, Granger G. Sutton, Jason M. Tsolas, Charles Robin, Angie S. Hinrichs, Christopher D. Smith, Jane Wilkinson, Brendan McKernan, Fritz Pierre, William McCusker, Brian Oliver, Barry E. Garvin, Sudhir Kumar, Peter Kisner, Kunsang Dorjee, A. Bernardo Carvalho, Anna Montmayeur, Andrew Zimmer, Diana Shih, Wei Tao, Shiaw Pyng Yang, Sante Gnerre, Sampath Settipalli, Thu Nguyen, Paolo Barsanti, Brian P. Lazzaro, Sonja J. Prohaska, J. Craig Venter, Senait Tesfaye, Susan McDonough, Kim D. Pruitt, Alexander Stark, Sergio Castrezana, Lucinda Fulton, Richard T. Lapoint, Greg Gibson, John Spieth, Boris Adryan, Georgius De Haan, Sheila Fisher, Daniel A. Pollard, Seva Kashin, Rob J. Kulathinal, Michael B. Eisen, Nathaniel Novod, Christina Demaso, Alan Dupes, Amanda M. Larracuente, Toby Bloom, Alfredo Villasante, Charles H. Langley, Rama S. Singh, Niall J. Lennon, Kristi L. Montooth, Daniel Barker, Wolfgang Stephan, David Sturgill, Ruiqiang Li, Andrew Hollinger, Boris Boukhgalter, Talene Thomson, Patrick Cooke, Zac Zwirko, Nadia D. Singh, Michael Weiand, Lior Pachter, Roderic Guigó, Yu Zhang, Jay D. Evans, Stephanie Bosak, Rosie Levine, Lu Shi, Kiyohito Yoshida, Carolyn S. McBride, Pouya Kheradpour, William Brockman, Alberto Civetta, Hiroshi Akashi, Marcia Lara, Susan Faro, Sam Griffiths-Jones, Michael R. Brent, Thomas H. Eickbush, Gane Ka-Shu Wong, Elizabeth P. Ryan, Erica Anderson, Roberta Kwok, Asif T. Chinwalla, Sahal Osman, Nga Nguyen, Damiano Porcelli, Missole Doricent, Saverio Vicario, Marc Rubenfield, Bárbara Negre, Gillian M. Halter, Erin E. Dooley, Elena R. Lozovsky, William Lee, Alville Collymore, Catherine Stone, Tanya Mihova, Jun Wang, Karsten Kristiansen, Imane Bourzgui, Michael F. Lin, Katie D'Aco, Filipe G. Vieira, Choe Norbu, Yu-Hui Rogers, Aaron L. Halpern, Eugene W. Myers, Sharleen Grewal, Robert T. Good, Alfredo Ruiz, Dave Kudrna, Joseph Graham, Alex Lipovsky, Leonidas Mulrain, Tsering Wangdi, Roman Arguello, Mira V. Han, Arjun Bhutkar, Rasmus Nielsen, David J. Saranga, Aleksey V. Zimin, Vasilia Magnisalis, Helen Vassiliev, Thomas C. Kaufman, Eva Markiewicz, Temple F. Smith, Jinlei Liu, Loryn Gadbois, Michael G. Ritchie, Lisa Zembek, Daniel Bessette, Pasang Bachantsang, Adam Navidi, Department of Molecular Biology and Genetics, Cornell University [New York], Lawrence Berkeley National Laboratory [Berkeley] (LBNL), University of California [Berkeley], University of California, Agencourt Bioscience Corporation, Partenaires INRAE, Faculty of Life Science, University of Manchester [Manchester], Laboratory of Cellular and Developmental Biology (LCDB), NIDDK, NIH, Department of Ecology and Evolutionary Biology, University of Arizona, Department of Biology, Indiana University [Bloomington], Indiana University System-Indiana University System, Massachusetts Institute of Technology (MIT), Harvard University [Cambridge], Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Brown University, Laboratory of Molecular Biology, Medical Research Council, Departament de Genetica, Universitat de Barcelona (UB), Pennsylvania State University (Penn State), Penn State System-Penn State System, Department of Genetics, University of Georgia [USA], Uppsala University, Department of Ecology and Evolution [Lausanne], Université de Lausanne (UNIL), McMaster University, School of Biology, IE University, Università degli Studi di Bari Aldo Moro, University of Melbourne, Stanford University, University of California [Davis] (UC Davis), Boston University [Boston] (BU), Centro de Regulación Genómica (CRG), Universitat Pompeu Fabra [Barcelona] (UPF), Washington University in Saint Louis (WUSTL), University of Sheffield, Syracuse University, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Department of Bioengineering, Beihang University (BUAA), Tucson Stock Center, Genome Center, University of California-University of California, Genome Sequencing Center, University of Washington School of Medicine, University of Winnipeg, Iowa State University (ISU), Indiana University System, The Wellcome Trust Sanger Institute [Cambridge], Center for Bioinformatics and Computational Biology, University of Delaware [Newark], Illinois State University, University of Rochester [USA], United States Department of Agriculture (USDA), Arizona State University [Tempe] (ASU), Leipzig University, Universidade Federal do Rio Grande do Sul (UFRGS), Duke University, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), University of Connecticut (UCONN), Computer Science Département, Université Saint-Esprit de Kaslik (USEK), Mc Master University, Indiana University, Institute of Evolutionary Biology, University of Edinburgh, J. Craig Venter Institute [La Jolla, USA] (JCVI), University of Oxford [Oxford], Center for Biomolecular Science and Engineering, Unité de Recherche Génomique Info (URGI), Institut National de la Recherche Agronomique (INRA), and Zdobnov, Evgeny

Subjects
melanogaster genome, 0106 biological sciences, RNA, Untranslated, [SDV]Life Sciences [q-bio], Genome, Insect, RNA, Untranslated/genetics, Genes, Insect, 01 natural sciences, Genome, Genome, Insect/ genetics, Gene Order, Genome, Mitochondrial/genetics, Drosophila Proteins, Phylogeny, ddc:616, Genetics, 0303 health sciences, Multidisciplinary, biology, Reproduction, Genomics, Multigene Family/genetics, Reproduction/genetics, DNA Transposable Elements/genetics, Genes, Insect/ genetics, Multigene Family, dosage compensation, Drosophila, amino-acid substitution, Drosophila Protein, Drosophila Proteins/genetics, Synteny/genetics, fruit-fly, 010603 evolutionary biology, Synteny, Drosophila sechellia, Evolution, Molecular, 03 medical and health sciences, Phylogenetics, Molecular evolution, Codon/genetics, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, Animals, adaptive protein evolution, Codon, 030304 developmental biology, Gene Order/genetics, molecular evolution, fungi, Immunity, synonymous codon usage, Sequence Analysis, DNA, Immunity/genetics, biology.organism_classification, Drosophila mojavensis, Evolutionary biology, Genome, Mitochondrial, DNA Transposable Elements, maximum-likelihood, noncoding dna, Drosophila/ classification/ genetics/immunology/metabolism, Sequence Alignment, natural-selection, Drosophila yakuba
Abstract

Affiliations des auteurs : cf page 216 de l'article; International audience; Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.

Published
2007

8. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Author

Nan Jiang, Alfonso Valencia, Rachel A. Harte, Abigail Woodroffe, Michael Seringhaus, Andrew Haydock, Eugene Davydov, Todd M. Lowe, Peggy J. Farnham, Robert E. Thurman, Tyler Alioto, Adam Ameur, Morgan Park, Roderic Guigó, Archana Thakkapallayil, Philipp Kapranov, Francis S. Collins, Donna Karolchik, Stefan Washietl, Kerstin Lindblad-Toh, Michael L. Tress, Barbara E. Stranger, Gregory M. Cooper, Kun Wang, Thomas R. Gingeras, Serafim Batzoglou, Peter D. Ellis, Annie Yang, Stylianos E. Antonarakis, Jonghwan Kim, Robert M. Andrews, W. James Kent, Kuo Ping Chiu, Madhavan Ganesh, Jason D. Lieb, Shane Neph, Albin Sandelin, Michael Hawrylycz, Eric S. Lander, Matthew T. Weirauch, Nick Goldman, Alexander E. Urban, Ian Bell, Anason S. Halees, Jan Komorowski, Webb Miller, Kandhadayar G. Srinivasan, Evelyn Cheung, David B. Jaffe, Peter J. Good, Gregory Lefebvre, Yuko Yoshinaga, Sylvain Foissac, Alexander W. Bruce, Mark Dickson, Christoph M. Koch, Antigone S. Dimas, Zhengdong D. Zhang, Matthew J. Oberley, Paul I.W. de Bakker, Arend Sidow, Xueqing Zhang, Molly Weaver, Jane Rogers, Jacquelyn R. Idol, Jeff Goldy, Haiyan Huang, William Stafford Noble, Angie S. Hinrichs, Sandeep Patel, David A. Nix, Lluís Armengol, Siew Woh Choo, Hong Sain Ooi, Sara Van Calcar, Ivan Adzhubei, Job Dekker, Sara J. Cooper, Hari Tammana, Valerie Maduro, Jason A. Greenbaum, Bing Ren, Sharon L. Squazzo, Jennifer C. McDowell, Chikatoshi Kai, Ivo L. Hofacker, Ian Dunham, Peter J. Bickel, Nancy Holroyd, Eduardo Eyras, Julien Lagarde, Fei Yao, Man Yu, Piero Carninci, Chia-Lin Wei, Alice C. Young, Yong Yu, Daryl J. Thomas, George Asimenos, Xiaoqin Xu, Galt P. Barber, Andrea Tanzer, Juan I. Montoya-Burgos, Sujit Dike, Nathan Day, Gregory E. Crawford, Michele Clamp, Todd Richmond, Nuria Lopez-Bigas, Vishwanath R. Iyer, Ewan Birney, Richard Humbert, Gary C. Hon, David Swarbreck, Xiaobin Guan, Sarah Wilcox, Nate Heintzman, Josep F. Abril, Elaine R. Mardis, Stefan Enroth, Charlie W.H. Lee, Nicholas Matthews, Benedict Paten, Robert Castelo, Michael A. Singer, Mousheng Xu, Chiou Yu Choo, Nancy F. Hansen, Elizabeth Rosenzweig, Patrick A. Navas, Jacqueline Chrast, Brett E. Johnson, Jan O. Korbel, Simon Whelan, Stephen Hartman, Ulas Karaoz, Ingileif B. Hallgrímsdóttir, David Haussler, Michael R. Brent, Jill Cheng, Gonçalo R. Abecasis, Ann S. Zweig, Sherman M. Weissman, Michael O. Dorschner, Jin Lian, Vinsensius B. Vega, Cordelia Langford, Alexandre Reymond, Mark Gerstein, Pawandeep Dhami, Ola Wallerman, Huaiyang Jiang, Lior Pachter, James Taylor, Eric A. Stone, David R. Inman, Yijun Ruan, Peter E. Newburger, Roland Green, Ari Löytynoja, Shelley Force Aldred, Alvaro Rada-Iglesias, Baishali Maskeri, Joel Rozowsky, Jorg Drenkow, Colin N. Dewey, Srinka Ghosh, Yutao Fu, Kayla E. Smith, Xavier Estivill, Donna M. Muzny, Christine P. Bird, Tim Hubbard, Jana Hertel, Kristin Missal, Neerja Karnani, Ericka M. Johnson, Nan Zhang, Zhou Zhu, Stephen C. J. Parker, Minmei Hou, Charlotte N. Henrichsen, Heather A. Hirsch, Caroline Manzano, Laura A. Liefer, Kim C. Worley, Robert Baertsch, Mark S. Guyer, Ross C. Hardison, Zheng Lian, Hiram Clawson, Leah O. Barrera, Manja Lindemeyer, James Cuff, Chunxu Qu, Jun Kawai, Jennifer Hillman-Jackson, Eric D. Green, Robert W. Blakesley, Abel Ureta-Vidal, Rhona K. Stuart, Fabio Pardi, Peter J. Sabo, Edward A. Sekinger, John S. Mattick, Ankit Malhotra, Taane G. Clark, James G. R. Gilbert, James C. Mullikin, Deyou Zheng, Robert M. Kuhn, Tae Hoon Kim, M. Geoff Rosenfeld, Kirsten Lee, Jörg Hackermüller, Oliver M. Dovey, Deanna M. Church, Kyle J. Munn, Peter F. Stadler, Phillippe Couttet, Claudia Fried, Jaafar N. Haidar, Kris A. Wetterstrand, Wing-Kin Sung, Paul G. Giresi, Jia Qian Wu, Ruth Taylor, David A. Wheeler, Zarmik Moqtaderi, Adam Siepel, Michael Snyder, Ian Holmes, Jun Liu, Olof Emanuelsson, Kevin Struhl, Saurabh Asthana, Akshay Bhinge, Adam Frankish, Yoshihide Hayashizaki, Ghia Euskirchen, Joel D. Martin, Robert S. Fulton, Ugrappa Nagalakshmi, Heike Fiegler, Gayle K. Clelland, Shane C. Dillon, Fidencio Neri, Elliott H. Margulies, Sean Davis, Mark Bieda, Tristan Frum, Michael S. Kuehn, Heather Trumbower, Pamela J. Thomas, Kazutoyo Osoegawa, Richard A. Gibbs, Emmanouil T. Dermitzakis, Julian L. Huppert, Richard K. Wilson, Tina Graves, Zhiping Weng, Anthony Shafer, Baoli Zhu, Christopher K. Glass, Patrick J. Boyle, Hennady P. Shulha, Maxim Koriabine, Christoph Flamm, David Vetrie, Nigel P. Carter, Patrick Ng, Peter Kraus, John A. Stamatoyannopoulos, George M. Weinstock, Tim Massingham, Jane M. Lin, Damian Keefe, Jean L. Chang, Shamil R. Sunyaev, Sergey Nikolaev, Kate R. Rosenbloom, Carine Wyss, Hua Cao, Keith D. James, Michael C. Zody, Gerard G. Bouffard, Atif Shahab, Nathan D. Trinklein, James B. Brown, Erica Sodergren, Xiaodong Zhao, Rosa Luna, Sante Gnerre, Paul Flicek, Joanna C. Fowler, Andrew D. Kern, Jakob Skou Pedersen, David C. King, Anindya Dutta, Elise A. Feingold, Richard M. Myers, Richard Sandstrom, Catherine Ucla, Thomas D. Tullius, Mikhail Nefedov, Claes Wadelius, Jennifer Harrow, Christopher M. Taylor, Xiaoling Zhang, Pieter J. de Jong, Dermitzakis, Emmanouil, and Reymond, Alexandre

Subjects
DNA Replication, RNA, Messenger/genetics, Chromatin Immunoprecipitation, Heterozygote, RNA, Untranslated, Transcription, Genetic, Systems biology, Histones/metabolism, RNA, Untranslated/genetics, Pilot Projects, Genomics, Computational biology, Regulatory Sequences, Nucleic Acid, Biology, ENCODE, Genome, Article, DNase-Seq, Histones, Evolution, Molecular, Exons/genetics, Humans, ddc:576.5, Transcription Factors/metabolism, RNA, Messenger, Conserved Sequence, Chromatin/genetics/metabolism, Genetics, Transcription, Genetic/ genetics, Multidisciplinary, Genome, Human, GENCODE, Genetic Variation, Exons, Chromatin, Genetic Variation/genetics, Regulatory Sequences, Nucleic Acid/ genetics, Human genome, Conserved Sequence/genetics, Transcription Initiation Site, Functional genomics, Genome, Human/ genetics, Transcription Factors, Protein Binding
Abstract

We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view about chromatin structure has emerged, including its interrelationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded novel mechanistic and evolutionary insights about the functional landscape of the human genome. Together, these studies are defining a path forward to pursue a more-comprehensive characterisation of human genome function.

Published
2007

9. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Author

James Cuff, Nancy F. Hansen, Rachel A. Harte, Jean L. Chang, Abel Ureta-Vidal, Fabio Pardi, Michele Clamp, Xiaobin Guan, Erica Sodergren, Richard A. Moore, Alice C. Young, Huaiyang Jiang, Kim C. Worley, Sante Gnerre, Adam Siepel, Eric A. Stone, Ann S. Zweig, Peter J. Bickel, Donna M. Muzny, Eric D. Green, Simon Whelan, Jacquelyn R. Idol, Ariel S. Schwartz, Robert W. Blakesley, Ross C. Hardison, Arend Sidow, Robert M. Kuhn, Donna Karolchik, Elaine R. Mardis, Ian Holmes, Daryl J. Thomas, James C. Mullikin, George Asimenos, Robert S. Fulton, Galt P. Barber, Elliott H. Margulies, Webb Miller, Ewan Birney, Jacqueline E. Schein, Lior Pachter, Ari Löytynoja, Minmei Hou, Serafim Batzoglou, Gregory M. Cooper, Eric S. Lander, Nick Goldman, Baishali Maskeri, George M. Weinstock, Hiram Clawson, Matthew A. Field, Tim Massingham, Damian Keefe, Heather Trumbower, David B. Jaffe, Tina Graves, David Haussler, Valerie Maduro, Richard A. Gibbs, Richard K. Wilson, Stylianos E. Antonarakis, Carrie A. Matthewson, W. James Kent, Morgan Park, David A. Wheeler, Kerstin Lindblad-Toh, Sergey Nikolaev, Kate R. Rosenbloom, Gerard G. Bouffard, Angie S. Hinrichs, James B. Brown, Marco A. Marra, Benedict Paten, Colin N. Dewey, Jennifer C. McDowell, Juan I. Montoya-Burgos, Pamela J. Thomas, James Taylor, Montoya Burgos, Juan Ignacio, and Antonarakis, Stylianos

Subjects
Genetics, Mammals, ddc:616, Genome, Human, Sequence alignment, Computational biology, Biology, ENCODE, Genome, Article, Constraint (information theory), Evolution, Molecular, Consistency (database systems), Open Reading Frames, Phylogenetics, Human Genome Project, Animals, Humans, Human genome, Mammals/ genetics, Sequence Alignment, Genetics (clinical), Phylogeny, Sequence (medicine)
Abstract

A key component of the ongoing ENCODE project involves rigorous comparative sequence analyses for the initially targeted 1% of the human genome. Here, we present orthologous sequence generation, alignment, and evolutionary constraint analyses of 23 mammalian species for all ENCODE targets. Alignments were generated using four different methods; comparisons of these methods reveal large-scale consistency but substantial differences in terms of small genomic rearrangements, sensitivity (sequence coverage), and specificity (alignment accuracy). We describe the quantitative and qualitative trade-offs concomitant with alignment method choice and the levels of technical error that need to be accounted for in applications that require multisequence alignments. Using the generated alignments, we identified constrained regions using three different methods. While the different constraint-detecting methods are in general agreement, there are important discrepancies relating to both the underlying alignments and the specific algorithms. However, by integrating the results across the alignments and constraint-detecting methods, we produced constraint annotations that were found to be robust based on multiple independent measures. Analyses of these annotations illustrate that most classes of experimentally annotated functional elements are enriched for constrained sequences; however, large portions of each class (with the exception of protein-coding sequences) do not overlap constrained regions. The latter elements might not be under primary sequence constraint, might not be constrained across all mammals, or might have expendable molecular functions. Conversely, 40% of the constrained sequences do not overlap any of the functional elements that have been experimentally identified. Together, these findings demonstrate and quantify how many genomic functional elements await basic molecular characterization.

Published
2007

10. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Author

James R. Lupski, Xiaohong Liu, Sante Gnerre, Bruce W. Birren, Nicole R. Allen, James G. R. Gilbert, Pawel Stankiewicz, Tashi Lokyitsang, Jane E. Loveland, Amr Abouelleil, John E. Major, Manuel Garber, Steven A. McCarroll, April Cook, Mark L. Borowsky, Annie Lui, David C. Schwartz, Jonathan Butler, Christine Nicholson, Chad Nusbaum, Atanas Mihalev, Laurens G. Wilming, Catherine Hosage Norman, Daniel S. Hagopian, Jessica A. Lehoczky, Robert Nicol, David Swarbreck, Cindy Nguyen, Varsha K. Khodiyar, Ted Sharpe, Gavin K. Laird, Evan Mauceli, Russell J. Grocock, Jane Rogers, S. Searle, Charles Shaw-Smith, Michael C. Zody, Toby Bloom, Boris Bugalter, David B. Jaffe, Pieter J. de Jong, Jean L. Chang, Kazutoyo Osoegawa, Michael Kamal, Sinéad B. O'Leary, Steven A. Goldstein, David J. Adams, Richard Gibson, Jennifer Harrow, Sean Humphray, Chao-Kung Chen, Michael Fitzgerald, Allan Bradley, Ken Dewar, Charles A. Steward, Eric S. Lander, E. Hart, David DeCaprio, Nabil Hafez, Matthew C. Jones, Darren Grafham, Tim Hubbard, Vijay Venkataraman, Jonathan M. Mudge, Charles A. Whittaker, Kurt LaButti, Andrew Zimmer, Christina A. Cuomo, Xiaoping Yang, Benjamin Corum, Sarah Young, Pendexter Macdonald, Lucy Matthews, and Weimin Bi

Subjects
Genetics, Base Composition, Multidisciplinary, Sequence Analysis, DNA, Biology, Synteny, Article, Chromosome 17 (human), Evolution, Molecular, Mice, Chromosome 4, Chromosome 16, Long Interspersed Nucleotide Elements, Chromosome 19, Gene Duplication, Animals, Humans, Chromosome 21, Chromosome 22, Chromosomal inversion, Segmental duplication, Chromosomes, Human, Pair 17, Short Interspersed Nucleotide Elements
Abstract

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome1, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome2,3. It is also enriched in segmental duplications, ranking third in density among the autosomes4. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution5,6, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.

Published
2006

11. Analysis of the DNA sequence and duplication history of human chromosome 15

Author

Sandra Stewart, Amardeep Kaur, Evan Mauceli, Kerri Topham, Harindra Arachchi, Brian Birditt, Jerome Naylor, Toby Bloom, Sarah Young, Anup Madan, Reinhard Engels, Manuel Garber, Sabrina M. Stone, Anuradha Madan, Amber L Ratcliffe, Ryan Nesbitt, Amr Abouelleil, Keith O'Neill, Scott Bloom, Katherine M. B. Sneddon, Dascena Vincent, Lester Dorris, Steven Rounsley, Jennifer L. Hall, Michael Fitzgerald, David B. Jaffe, Grace Hensley, Gary Gearin, Devin P. Locke, Asha Kamat, Ericka M. Johnson, Jonathan Butler, Sinéad B. O'Leary, Jeremy Burke, Lida Baradarani, Jean L. Chang, Kurt DeArellano, Michael Kamal, Andrew Zimmer, Annie Lui, Eric S. Lander, Charles A. Whittaker, Monica Dors, Chad Nusbaum, David DeCaprio, Chinnappa D. Kodira, Leroy Hood, Robert Nicol, Ted Sharpe, Evan E. Eichler, Nissa Abbasi, Christina A. Cuomo, Glen Munson, Mark L. Borowsky, Shunguang Wang, Michael C. Zody, Shizhen Qin, Charlien Jones, Peter Fleetwood, Xinwei She, Pendexter Macdonald, Ken Dewar, April Cook, Xiaoping Yang, Bruce W. Birren, Jessica Fahey, Cynthia Friedman, Carrie Sougnez, and Lee Rowen

Subjects
Molecular Sequence Data, Biology, Synteny, Evolution, Molecular, Chromosome 16, Chromosome 19, Gene Duplication, Animals, Humans, Conserved Sequence, Phylogeny, Segmental duplication, Genetics, Chromosome 7 (human), Chromosomes, Human, Pair 15, Multidisciplinary, Polymorphism, Genetic, Genome, Human, Sequence Analysis, DNA, Macaca mulatta, Chromosome 17 (human), Chromosome 4, Genes, Haplotypes, Multigene Family, Chromosome 21, Chromosome 22
Abstract

Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.

Published
2005

12. Human chromosome 11 DNA sequence and analysis including novel gene identification

Author

Takehiko Itoh, Christopher Seaman, K F Barlow, Jane Rogers, Hideki Noguchi, Chad Nusbaum, Masahira Hattori, Michael Fitzgerald, Michael C. Zody, Evan E. Eichler, Yasushi Totoki, Robert Nicol, Andrew Zimmer, Carrie Sougnez, Yoshiyuki Sakaki, Elspeth A. Bruford, David B. Jaffe, Bruce W. Birren, Kurt LaButti, Atsushi Toyoda, Asao Fujiyama, Ken Dewar, Christina A. Cuomo, Dae-Won Kim, Tadayuki Takeda, Xinwei She, Xiaoping Yang, Todd D. Taylor, Toby Bloom, Christine Lloyd, Hong Seog Park, Yoko Kuroki, Eric S. Lander, and Jean L. Chang

Subjects
Genetics, Multidisciplinary, Chromosomes, Human, Pair 11, Molecular Sequence Data, Gene Expression, DNA, Sequence Analysis, DNA, Biology, Physical Chromosome Mapping, Receptors, Odorant, Chromosome 17 (human), Chromosome 15, Chromosome 16, Genes, Chromosome 19, Gene density, Humans, Chromosome 20, Chromosome 21, Chromosome 22
Abstract

Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena.

Published
2005

13. Genome sequence, comparative analysis and haplotype structure of the domestic dog

Author

Tsering Wangchuk, Mayank Kumar, Sharon Stavropoulos, James Cuff, Mostafa Benamara, David DeCaprio, Birhane Hagos, Nathaniel Novod, Tashi Lokyitsang, Nyima Norbu, Jennifer Baldwin, Sabrina M. Stone, Catherine Stone, Geneva Young, Osebhajajeme Egbiremolen, Dawa Thoulutsang, Tanya Mihova, Lisa Kim, Julie Sahalie, Jan Macdonald, Amr Abouelleil, Toby Bloom, Yama Cheshatsang, Carolyne Bardeleben, Qing Yu, Berta Blitshteyn, Tuyen T. Nguyen, Tarjei S. Mikkelsen, Edward Grandbois, Claire M. Wade, John E. Major, Filip Rege, Cindy Nguyen, Andrew Barry, Tracey Honan, Pablo Alvarez, Andy Vo, Manuel Garber, Cristyn Kells, Rachel Mittelman, Lucien Oyono, Norbu Dhargay, Sean M. Sykes, Diallo Ferguson, Tyler Aldredge, Tenchoe Nyima, Todd Sparrow, Daniel S. Hagopian, Christophe Hitte, Andreas Heger, Jane E. Wilkinson, Verneda Ray, Peter Rogov, Ewen F. Kirkness, Jill Falk, Robert Nicol, Christopher Patti, Danielle Perrin, Ted Sharpe, Douglas Smith, Peter Olandt, Matthew Breen, Ali Aslam, Cherylyn Smith, Tara Biagi, Diane Gage, Jean L. Chang, Karen Hughes Miller, Valentine Mlenga, Andrea Horn, Jessie Sloan, Claire M. Healy, Adam Wilson, Ngawang Sherpa, Riza M. Daza, David B. Jaffe, Leonid Boguslavskiy, Jody Camarata, Peter Kisner, William H. Lee, Kunsang Dorjee, M. Husby, Sante Gnerre, Kunsang Gyaltsen, Asha Kamat, Jonathan Butler, Terrance Shea, Alicia Franke, Patrick Cooke, Rayale Rameau, Andrew Zimmer, Gary Gearin, Nabil Hafez, Kerri Topham, Kebede Maru, Chris P. Ponting, Jerome Naylor, Yama Thoulutsang, Keith O'Neill, Jinlei Liu, Manolis Kellis, Claude Bonnet, Claudel Antoine, Passang Dorje, Adal Abebe, Tsamla Tsamla, Michael Kleber, Michael Weiand, Audra Goyette, Rachael Thomas, Lisa Zembek, Atanas Mihalev, Daniel Bessette, Helen Vassiliev, Pasang Bachantsang, Adam Navidi, Kathleen Dooley, Caleb Webber, Pierre Tchuinga, Tashi Bayul, Michael Kamal, Heidi G. Parker, Ben Kanga, Kimberly Dooley, Nadia Calixte, Mostafa Ait-zahra, Niall J. Lennon, Ira Topping, Eric S. Lander, Pieter J. deJong, Nicole R. Allen, Peter An, Boris Boukhgalter, Richard Elong, Thomas E. Landers, Anthony Rachupka, Michael Fitzgerald, Lisa Leuper, William Brockman, Marcia Lara, Susan Faro, Elaine A. Ostrander, Joanne Zainoun, Leigh Anne Hunnicutt, Mark J. Daly, Leanne Hughes, April Cook, Patrick Cahill, Sujaa Raghuraman, Manfred Grabherr, Robert K. Wayne, Adam Brown, Xiaohong Liu, Charles Matthews, Scott Anderson, Margaret Priest, Shailendra Yadav, Evan Mauceli, Kerstin Lindblad-Toh, Patricia Ferreira, Yeshi Lokyitsang, Harindra Arachchi, Alexandre Melnikov, Christina Raymond, James Meldrim, Dmitry Khazanovich, Mieke Citroen, Aaron M. Berlin, Alix Chinh Kieu, John Stalker, Francis Galibert, Noah Duffey, Krista Lance, Louis Meneus, Jennifer Ruth Sadler Hall, Choe Norbu, Pema Tenzing, Richard Marabella, Chee-Wye Chin, Karen Foley, Xiaoping Yang, Nga Nguyen, Tenzin Dawoe, Ryan Hegarty, Julie Rogers, Joseph Graham, Chelsea D. Foley, Leonidas Mulrain, Tsering Wangdi, Karin Decktor, Sarah LeVine, Shuli Yang, Dennis C. Friedrich, Tina Goode, Cecil Rise, Teena Mehta, Laura Ayotte, Michele Clamp, Nicole Stange-Thomann, Annie Lui, Edward J. Kulbokas, Pema Phunkhang, Alan Dupes, Elinor K. Karlsson, Lynne Aftuck, Sahal Osman, Abderrahim Farina, Barry O'Neill, Diana M. Shih, Xiaohui Xie, Lester Dorris, Vijay Venkataraman, Benjamin Jester, Sampath Settipalli, Thu Nguyen, Alville Collymore, Klaus-Peter Koepfli, Senait Tesfaye, Nathan Houde, Susan McDonough, Leo Goodstadt, Glen Munson, Georgia Giannoukos, Jeffrey Chu, Nathan B. Sutter, Sheila A. Fisher, Charlien Jones, Michael C. Zody, Jianying Shi, John P. Pollinger, Mechele Sheehan, Stephen M. J. Searle, Fritz Pierre, Jason Blye, Jean-Pierre Leger, and Stuart DeGray

Subjects
Male, Genomics, Single-nucleotide polymorphism, Biology, Genome, Polymorphism, Single Nucleotide, Synteny, Conserved sequence, Evolution, Molecular, Mice, Dogs, Molecular evolution, Animals, Humans, Dog Diseases, Conserved Sequence, Short Interspersed Nucleotide Elements, Genetics, Whole genome sequencing, Multidisciplinary, Dog leukocyte antigen, Haplotype, Rats, Haplotypes, Mutagenesis, biology.protein, Hybridization, Genetic, Female
Abstract

Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.

Published
2005

14. DNA sequence and analysis of human chromosome 8

Author

Chad Nusbaum, Tarjei S. Mikkelsen, Michael C. Zody, Shuichi Asakawa, Stefan Taudien, Manuel Garber, Chinnappa D. Kodira, Mary G. Schueler, Atsushi Shimizu, Charles A. Whittaker, Jean L. Chang, Christina A. Cuomo, Ken Dewar, Michael G. FitzGerald, Xiaoping Yang, Nicole R. Allen, Scott Anderson, Teruyo Asakawa, Karin Blechschmidt, Toby Bloom, Mark L. Borowsky, Jonathan Butler, April Cook, Benjamin Corum, Kurt DeArellano, David DeCaprio, Kathleen T. Dooley, Lester Dorris, Reinhard Engels, Gernot Glöckner, Nabil Hafez, Daniel S. Hagopian, Jennifer L. Hall, Sabine K. Ishikawa, David B. Jaffe, Asha Kamat, Jun Kudoh, Rüdiger Lehmann, Tashi Lokitsang, Pendexter Macdonald, John E. Major, Charles D. Matthews, Evan Mauceli, Uwe Menzel, Atanas H. Mihalev, Shinsei Minoshima, Yuji Murayama, Jerome W. Naylor, Robert Nicol, Cindy Nguyen, Sinéad B. O'Leary, Keith O'Neill, Stephen C. J. Parker, Andreas Polley, Christina K. Raymond, Kathrin Reichwald, Joseph Rodriguez, Takashi Sasaki, Markus Schilhabel, Roman Siddiqui, Cherylyn L Smith, Tam P. Sneddon, Jessica A. Talamas, Pema Tenzin, Kerri Topham, Vijay Venkataraman, Gaiping Wen, Satoru Yamazaki, Sarah K. Young, Qiandong Zeng, Andrew R. Zimmer, Andre Rosenthal, Bruce W. Birren, Matthias Platzer, Nobuyoshi Shimizu, and Eric S. Lander

Subjects
Male, Multidisciplinary, Molecular Sequence Data, Sequence Analysis, DNA, DNA, Satellite, Immunity, Innate, Defensins, Euchromatin, Evolution, Molecular, Contig Mapping, Multigene Family, Animals, Humans, Female, Chromosomes, Human, Pair 8
Abstract

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.

Published
2005

15. Initial sequence of the chimpanzee genome and comparison with the human genome

Author

Xose S. Puente, Edward J. Kulbokasl, Tina Graves, Lucinda L. Fulton, Xiaoqiu Huang, Wolfgang Enard, Tracie L. Miner, Peer Bork, Arian F.A. Smit, Mario Ventura, Ge Liu, Eray Tüzün, Jean L. Chang, W. James Kent, Daniel J. Richter, Robert H. Waterston, Maryellen Ruvolo, Sante Gnerre, Toshiyuki Hayakawa, David B. Jaffe, Ines Hellmann, Svante Pääbo, Ajit Varki, Gloria Velasco, Carlos López-Otín, Asif T. Chinwalla, Orna Man, Gustavo Glusman, Catrina Fronick, Katherine S. Pollard, Tarjei S. Mikkelsen, Craig Pohl, Nick Patterson, Scott M. Smith, Kateryna D. Makova, Jonathan Butler, William E. Nash, Mariano Rocchi, Pieter J. de Jong, Ze Cheng, Evan E. Eichler, Hongkai Ji, Mikita Suyama, Tasha K. Altheide, Kerstin Lindblad-Toh, Yoav Gilad, Kay Prüfer, James E. Taylor, Karen E. Hayden, Joanne O. Nelson, Mary Claire King, Evan Mauceli, Michael C. Wendl, Ming K. Lee, David Reich, Richard K. Wilson, Eric S. Lander, Nicoletta Archidiacono, Kimberley D. Delehaunty, Shiaw-Pyng Yang, Kate R. Rosenbloom, LaDeana W. Hillier, Michael C. Zody, John W. Wallis, David Torrents, Stephen F. Schaffner, and Elaine R. Mardis

Subjects
Genome evolution, Time Factors, Pan troglodytes, Biology, ENCODE, Genome, Chimpanzee genome project, Evolution, Molecular, Alu Elements, biology.animal, Animals, Humans, Disease, Alleles, Phylogeny, Whole genome sequencing, Genetics, Recombination, Genetic, Base Composition, Multidisciplinary, Polymorphism, Genetic, Genome, Human, Computational Biology, Genome project, Genomics, Sequence Analysis, DNA, Telomere, Evolutionary biology, Mutagenesis, DNA Transposable Elements, Common chimpanzee, Reference genome
Abstract

Here we present a draft genome sequence of the common chimpanzee (Pan troglodytes). Through comparison with the human genome, we have generated a largely complete catalogue of the genetic differences that have accumulated since the human and chimpanzee species diverged from our common ancestor, constituting approximately thirty-five million single-nucleotide changes, five million insertion/deletion events, and various chromosomal rearrangements. We use this catalogue to explore the magnitude and regional variation of mutational forces shaping these two genomes, and the strength of positive and negative selection acting on their genes. In particular, we find that the patterns of evolution in human and chimpanzee protein-coding genes are highly correlated and dominated by the fixation of neutral and slightly deleterious alleles. We also use the chimpanzee genome as an outgroup to investigate human population genetics and identify signatures of selective sweeps in recent human evolution.

Published
2005

16. An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing

Author

Eric S. Lander, Kerstin Lindblad-Toh, Jean L. Chang, Webb Miller, Michele Clamp, David B. Jaffe, Eric D. Green, Jade P. Vinson, James C. Mullikin, and Elliott H. Margulies

Subjects
Comparative genomics, Whole genome sequencing, Genetics, Mammals, Multidisciplinary, Base Sequence, Genome, Human, Computational Biology, Genomics, Hybrid genome assembly, Genome project, Computational biology, Sequence Analysis, DNA, Biology, Biological Sciences, Genome, Conserved sequence, Animals, Humans, Human genome, Sequence Alignment, Conserved Sequence, Phylogeny
Abstract

With the recent completion of a high-quality sequence of the human genome, the challenge is now to understand the functional elements that it encodes. Comparative genomic analysis offers a powerful approach for finding such elements by identifying sequences that have been highly conserved during evolution. Here, we propose an initial strategy for detecting such regions by generating low-redundancy sequence from a collection of 16 eutherian mammals, beyond the 7 for which genome sequence data are already available. We show that such sequence can be accurately aligned to the human genome and used to identify most of the highly conserved regions. Although not a long-term substitute for generating high-quality genomic sequences from many mammalian species, this strategy represents a practical initial approach for rapidly annotating the most evolutionarily conserved sequences in the human genome, providing a key resource for the systematic study of human genome function.

Published
2005

17. Erratum: Corrigendum: DNA sequence and analysis of human chromosome 18

Author

Michael Fitzgerald, Amr Abouelleil, Bruce W. Birren, Andreas Gnirke, Takehiko Itoh, Cindy Nguyen, Yasushi Totoki, Annie Lui, Chinnappa D. Kodira, Chad Nusbaum, Michael C. Zody, Cherylyn Smith, Christina A. Cuomo, Yoshiyuki Sakaki, David DeCaprio, H Wain, Jessica A. Talamas, Bruno Piqani, Mark L. Borowsky, Manuel Garber, Qiandong Zeng, Jonathan Butler, Masahira Hattori, Charles Whittaker, Scott F. Anderson, David B. Jaffe, Atsushi Toyoda, Boris Bugalter, Ken Dewar, April Cook, Asao Fujiyama, Robert Nicol, Kerri Topham, Jerome Naylor, Catherine Hosage Norman, Tarjei S. Mikkelsen, Hideki Noguchi, Sinéad B. O'Leary, Reinhard Engels, Andrew Zimmer, Keith O'Neill, Nabil Hafez, Jean L. Chang, Toby Bloom, Sarah Young, Jennifer L. Hall, Evan Mauceli, Michael Kamal, Pendexter Macdonald, Yoko Kuroki, Xiaoping Yang, Eric S. Lander, Jessica A. Lehoczky, Nicole R. Allen, and Todd D. Taylor

Subjects
Genetics, Multidisciplinary, Chromosome 18, Biology, DNA sequencing
Abstract

Nature 437, 551–555 (2005) doi:10.1038/nature03983 The name of Keith O'Neill was accidentally omitted from the published author list. He is at the first affiliation in the address list.

Published
2005

18. The chordate ParaHox cluster

Author

Jean L. Chang, April Cook, Alicia Hill-Force, Ken Dewar, Chris T. Amemiya, and David E. K. Ferrier

Subjects
Homeodomain Proteins, Base Sequence, Agricultural and Biological Sciences(all), Biochemistry, Genetics and Molecular Biology(all), Molecular Sequence Data, ParaHox, Chordate, Sequence Analysis, DNA, Biology, biology.organism_classification, General Biochemistry, Genetics and Molecular Biology, Evolution, Molecular, Paleontology, Gene Components, Evolutionary biology, Gene Duplication, Multigene Family, Cluster (physics), Animals, Chordata, General Agricultural and Biological Sciences
Abstract

Document S1. Supplemental Data and Figures.xDownload (.3 MB ) Document S1. Supplemental Data and Figures.

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