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1. Lineage-specific biology revealed by a finished genome assembly of the mouse.

Author

Deanna M Church, Leo Goodstadt, Ladeana W Hillier, Michael C Zody, Steve Goldstein, Xinwe She, Carol J Bult, Richa Agarwala, Joshua L Cherry, Michael DiCuccio, Wratko Hlavina, Yuri Kapustin, Peter Meric, Donna Maglott, Zoë Birtle, Ana C Marques, Tina Graves, Shiguo Zhou, Brian Teague, Konstantinos Potamousis, Christopher Churas, Michael Place, Jill Herschleb, Ron Runnheim, Daniel Forrest, James Amos-Landgraf, David C Schwartz, Ze Cheng, Kerstin Lindblad-Toh, Evan E Eichler, Chris P Ponting, and Mouse Genome Sequencing Consortium

Subjects
Biology (General), QH301-705.5
Abstract

The mouse (Mus musculus) is the premier animal model for understanding human disease and development. Here we show that a comprehensive understanding of mouse biology is only possible with the availability of a finished, high-quality genome assembly. The finished clone-based assembly of the mouse strain C57BL/6J reported here has over 175,000 fewer gaps and over 139 Mb more of novel sequence, compared with the earlier MGSCv3 draft genome assembly. In a comprehensive analysis of this revised genome sequence, we are now able to define 20,210 protein-coding genes, over a thousand more than predicted in the human genome (19,042 genes). In addition, we identified 439 long, non-protein-coding RNAs with evidence for transcribed orthologs in human. We analyzed the complex and repetitive landscape of 267 Mb of sequence that was missing or misassembled in the previously published assembly, and we provide insights into the reasons for its resistance to sequencing and assembly by whole-genome shotgun approaches. Duplicated regions within newly assembled sequence tend to be of more recent ancestry than duplicates in the published draft, correcting our initial understanding of recent evolution on the mouse lineage. These duplicates appear to be largely composed of sequence regions containing transposable elements and duplicated protein-coding genes; of these, some may be fixed in the mouse population, but at least 40% of segmentally duplicated sequences are copy number variable even among laboratory mouse strains. Mouse lineage-specific regions contain 3,767 genes drawn mainly from rapidly-changing gene families associated with reproductive functions. The finished mouse genome assembly, therefore, greatly improves our understanding of rodent-specific biology and allows the delineation of ancestral biological functions that are shared with human from derived functions that are not.

Published
2009
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2. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Ian M. Fingerman, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, Sergey Krasnov, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Karsch-Mizrachi, James Ostell, Anna R. Panchenko, Lon Phan, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2012
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3. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Ian M. Fingerman, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Mizrachi, James Ostell, Anna R. Panchenko, Lon Phan, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2011
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4. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Mizrachi, James Ostell, Anna R. Panchenko, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2010
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6. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Ron Edgar, Scott Federhen, Michael Feolo, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Thomas L. Madden, Donna R. Maglott, Vadim Miller, Ilene Karsch-Mizrachi, James Ostell, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Eugene Yaschenko, and Jian Ye

Published
2009
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7. Database resources of the National Center for Biotechnology Information.

Author

David L. Wheeler, Tanya Barrett, Dennis A. Benson, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Ron Edgar, Scott Federhen, Michael Feolo, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, Oleg Khovayko, David Landsman, David J. Lipman, Thomas L. Madden, Donna R. Maglott, Vadim Miller, James Ostell, Kim D. Pruitt, Gregory D. Schuler, Martin Shumway, Edwin Sequeira, Steven T. Sherry, Karl Sirotkin, Alexandre Souvorov, Grigory Starchenko, Roman L. Tatusov, Tatiana A. Tatusova, Lukas Wagner 0002, and Eugene Yaschenko

Published
2008
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8. Database resources of the National Center for Biotechnology Information.

Author

David L. Wheeler, Tanya Barrett, Dennis A. Benson, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Ron Edgar, Scott Federhen, Lewis Y. Geer, Yuri Kapustin, Oleg Khovayko, David Landsman, David J. Lipman, Thomas L. Madden, Donna R. Maglott, James Ostell, Vadim Miller, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Steven T. Sherry, Karl Sirotkin, Alexandre Souvorov, Grigory Starchenko, Roman L. Tatusov, Tatiana A. Tatusova, Lukas Wagner 0002, and Eugene Yaschenko

Published
2007
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9. Database resources of the National Center for Biotechnology Information.

Author

David L. Wheeler, Tanya Barrett, Dennis A. Benson, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Ron Edgar, Scott Federhen, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David L. Kenton, Oleg Khovayko, David J. Lipman, Thomas L. Madden, Donna R. Maglott, James Ostell, Kim D. Pruitt, Gregory D. Schuler, Lynn M. Schriml, Edwin Sequeira, Stephen T. Sherry, Karl Sirotkin, Alexandre Souvorov, Grigory Starchenko, Tugba O. Suzek, Roman L. Tatusov, Tatiana A. Tatusova, Lukas Wagner 0002, and Eugene Yaschenko

Published
2006
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11. Cryptic splice sites and split genes

Author

Frederick Wong, Yuri Kapustin, N J Dibb, Elcie Chan, Robert M.L. Winston, Tatiana Tatusova, Rupa Sarkar, and Igor Vorechovsky

Subjects
Biology, Evolution, Molecular, Exon, Splicing factor, Sequence Analysis, Protein, Consensus Sequence, otorhinolaryngologic diseases, Genetics, Humans, splice, Gene, Expressed Sequence Tags, Splice site mutation, Base Sequence, Genetic Diseases, Inborn, Intron, Computational Biology, Genomics, Group II intron, Introns, Genes, Evolutionary biology, RNA splicing, RNA Splice Sites, Sequence Alignment, Software
Abstract

We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match the exact position of introns in equivalent genes from another species. These results strongly indicate that many introns were inserted into css during evolution and they also imply that the splicing information that lies outside some introns can be independently recognized by the splicing machinery and was in place prior to intron insertion. This indicates that non-intronic splicing information had a key role in shaping the split structure of eukaryote genes.

Published
2011
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12. The genome sequence of taurine cattle: A window to ruminant biology and evolution

Author

Heather M Deobald, Gerald R. Fowler, Clay Davis, Judith Herdandez, Donna Maglott, Lin Chen, Gonzalo Rincon, Darren E. Hagen, James T. Warren, Evgenia V. Kriventseva, Ingrid Olsaker, Debora L. Hamernik, Charles Moen, Oliver C. Jann, Yuri Kapustin, Erdogan Memili, Timothy Connelley, Ling Ling Pu, Terhi Iso-Touru, Gemma Marie Payne, Ye Cheng, Amy Egan, Alexandre Reymond, Aniko Sabo, J. Bruce German, Jason R. Grant, Joseph Chacko, Ronnie D. Green, Isabel Kinney Ferreira de Miranda Santos, Raffaele Mazza, A.J. Molenaar, Richard A. Moore, Christian J. Buhay, Henry Song, Cham G. Kumar, Marion L. Greaser, Hasan Khatib, Harris A. Lewin, Olga Ermolaeva, Jonathan V. Sweedler, Steven J.M. Jones, Rosemeire Conceição Parra Pastor, Paul Stothard, Adam J. Colley, Antti Livanainen, Francesca Panzitta, Dan Graur, Aaron Ingham, David L. Adelson, Timothy P. L. Smith, Shirley A. Ellis, Andy Cree, Jingkun Zhang, Carolyn T.A. Herzig, Jason Goodell, Colette A. Abbey, Feng-Qi Zhao, Mimi M. Chandrabose, Ross L. Tellam, Alex Astashyn, Yanru Ren, Laura Elnitski, Bella Mayurkumar Patel, Sem Genini, Lassudara G. Almeida, Jacqueline E. Schein, Theresa Casey, Hanni Salih, José Fernando Garcia, Zhiquan Wang, Carolyn Fitzsimmons, Evan E. Eichler, Ngoc Nguyen, Kaitlin E. Donohue, Ariel Fernando Amadio, Clayton R. Boldt, John C. McEwan, Juan Manuel Anzola, Francisco Câmara, Shoba Ranganathan, Eran Elhaik, Stefan Hiendleder, George M. Weinstock, Lora Lewis, Jeremy F. Taylor, Dimos Kapetis, Andrew J. Roberts, Lee Alexander, Nelida Rodriguez-Osorio, Alexandre Souvorov, Justin C. Lee, Bruce R. Southey, Boris Kiryutin, Michael Holder, Xiang Qin, Warren M. Snelling, Abhirami Ratnakumar, Marcelo Fábio Gouveia Nogueira, Angela K. Walker, Hatam A. Hakimov, Fernando H. Biase, Roderic Guigó, Shannon Dugan-Rocha, Sean McWilliam, Rex Lee Williams, Jacqueline Chrast, Huyen Dinh, Robert C. Edgar, Huaiyang Jiang, Justin T. Reese, John W. Keele, George E. Liu, Yufeng Shen, Jireh Santibanez, Kim C. Worley, Sandra L. Lee, Sari S. Khalil, Marta Hernández, Stephen N. White, Suria M. Bahadue, Changxi Li, Kim D. Pruitt, Kirsty Jensen, C. Michael Dickens, Jung-Woo Choi, Jennifer Harrow, Tatiana A. DeCampos, Richard A. Gibbs, Ryan J. Lozado, Yoshikazu Sugimoto, Sigbjam Lien, Anna K. Bennett, Curtis P. Van Tassell, Eve Devinoy, Gustavo Garcia, R. Baxter, Satyanarayana Rachagani, Kevin K. Lahmers, Stylianos E. Antonarakis, D. Kolbehdari, Cynthia L. Baldwin, Lillian Sando, Darryl L. Hadsell, Elen Anatriello, Ze Cheng, Richard C. Waterman, Paul Havlak, Peter Dove, Laura Sherman, Wes Barris, Imke Tammen, Geoffrey Okwuonu, Jennifer Hume, Denis M. Larkin, Robert D. Schnabel, Zhi-Liang Hu, Evgeny M. Zdobnov, Danielle G. Lemay, Stephanie Bell, Roberto Malinverni, Jiuzhou Song, David Steffen, James M. Reecy, Lynne V. Nazareth, Carlo José Freire de Oliveira, E. Marques, Cody J. Gladney, Donna M. Muzny, Candice L. Brinkmeyer-Larigford, Lakshmi K. Matukumalli, Jan Aerts, Stephen S. Moore, Margaret Morgan, Kim L. McLean, Juan F. Medrano, Felix Kokocinski, Marco A. Marra, Gregory P. Harhay, Frank W. Nicholas, Loren C. Skow, Fiona S. L. Brinkman, Tovah Kerr, Krista L. Fritz, Stacey M. Curry, Charlotte N. Henrichsen, Catherine Ucla, David J. Lynn, Victor V. Solovyev, Natasha E. Romero, Sandra Hines, Joy M. Raison, Alessandra Mara Franzin, Selina Vattathil, Jeffery A. Carroll, Brian P. Dalrymple, Katarzyna Wilczek-Boney, Seongwon Seo, Richard J. Leach, Mireya Plass, Paul Kitts, Kris R. Wunderlich, Bhanu Prakash V.L. Telugu, Gary L. Bennett, Ramatu Ayiesha Gabisi, Ravikiran Donthu, Shalini N. Jhangiani, Rita A. Wright, Mary Qu Yang, Nauman J. Maqbool, W. A. Carvalho, Monique Rijnkels, Yuri Tani Utsunomiya, Charles E. Chappie, John L. Williams, Rob Halgren, Stephen M. J. Searle, A.R.R. Abatepaulo, Thomas Junier, Stephanie D. McKay, Anne G. Rosenwald, David A. Wheeler, Rosemarie Weikard, N. Hastings, Roger T. Stone, Eduardo Eyras, Cerissa Hamilton, Wendy C. Brown, Yan Ding, Ylva Strandberg Lutzow, Matthew Hobbs, Annett Eberlein, Carine Wyss, Jennifer M. Urbanski, Matthew Peter Kent, Lilian P.L. Lau, Dinesh Kumar, Penny K. Riggs, Lawrence B. Schook, Matthew Hitchens, Vandita Joshi, Melissa J. Landrum, Tyler Alioto, Nathan Poslusny, Thomas T. Wheeler, Victor Sapojnikov, Natália F. Martins, San Juana Ruiz, Michael D. MacNeil, Alexandre Rodrigues Caetano, Mario Andres Poli, Catherine Jamis, Masaaki Taniguchi, James E. Womack, William F. Martin, Andrej Razpet, James G. R. Gilbert, Daniel G. Bradley, Readman Chiu, Thomas H. Welsh, Clare A. Gill, Erica Sodergren, Carol G. Chitko-McKown, Hari Prasad Nandakumar, Virpi Ahola, Steve M. Kappes, Jennifer E. Chapin, Sandra Regina Maruyama, John Lopez, Krystin M. Logan, Jonathan A. Green, Laurens G. Wilming, Yue Liu, Antti Iivanainen, Robert A. Holt, Barbara T. Moreno, Marcos De Donato, Christie Kovar, Angela Jolivet Johnson, Carl T. Muntean, Robert Ward, K. James Durbin, Matthew D. Whiteside, Christopher P. Childers, Tad S. Sonstegard, Yin Shin Liu, Bin Zhu, Sameer D. Pant, Ashley J. Waardenberg, André Eggen, D.M. Spurlock, Hsiu Chuan Chen, Le Luo Guan, Sandra L. Rodriguez-Zas, Akiko Takasuga, Daniela D. Moré, Jianqi Yang, Wratko Hlavina, Sheila M. Schmutz, Michael J. Brownstein, Christine G. Elsik, Marvin Diep Dao, Daniel Gerlach, E. Hart, Elsa Chacko, Elizabeth Glass, Libing Shen, Chris P. Verschoor, Eliane P. Cervelatti, Department of Biology, Georgetown University, Department of Animal Science, Texas A&M University [College Station], Livestock Industries, Baylor College of Medicine (BCM), Reymond, Alexandre, Zdobnov, Evgeny, Antonarakis, Stylianos, Ucla, Catherine, Gerlach, Daniel, and Junier, Thomas

Subjects
Male, genome sequence, [SDV]Life Sciences [q-bio], ved/biology.organism_classification_rank.species, Genome, Genética y Herencia, Segmental duplication, 2. Zero hunger, Genetics, ddc:616, 0303 health sciences, Multidisciplinary, 04 agricultural and veterinary sciences, Bovine genome, Animals, Domestic, Proteins/genetics, Female, CIENCIAS NATURALES Y EXACTAS, Sequence analysis, Evolution, Biotecnología Agropecuaria, Molecular Sequence Data, Tecnología GM, clonación de ganado, selección asistida, diagnósticos, tecnología de producción de biomasa, etc, Biology, Synteny, Article, Ciencias Biológicas, Evolution, Molecular, 03 medical and health sciences, Species Specificity, Animals, Humans, General, Gene, 030304 developmental biology, Whole genome sequencing, ved/biology, Taurine cattle, 0402 animal and dairy science, Genetic Variation, Sequence Analysis, DNA, 040201 dairy & animal science, Bos taurus, Alternative Splicing, MicroRNAs/genetics, CIENCIAS AGRÍCOLAS, cattle, Cattle, genetic
Abstract

To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production. Fil: Bovine Genome Sequencing and Analysis Consortium. Bovine Genome Sequencing And Analysis Consortium; Estados Unidos Fil: Amadio, Ariel Fernando. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria Rafaela; Argentina Fil: Poli, Mario Andres. Instituto Nacional de Tecnología Agropecuaria. Centro de Investigación en Ciencias Veterinarias y Agronómicas. Instituto de Genética; Argentina

Published
2009
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13. Splign: algorithms for computing spliced alignments with identification of paralogs

Author

Yuri Kapustin, Alexander Souvorov, Tatiana Tatusova, and David J. Lipman

Subjects
DNA, Complementary, Sequence analysis, RNA Splicing, Pseudogene, Immunology, Sequence alignment, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, Set (abstract data type), Annotation, Predictive Value of Tests, Humans, RNA, Messenger, lcsh:QH301-705.5, Ecology, Evolution, Behavior and Systematics, Agricultural and Biological Sciences(all), Genome, Human, Sequence Analysis, RNA, Biochemistry, Genetics and Molecular Biology(all), Research, Applied Mathematics, Alternative splicing, Sequence Analysis, DNA, Genome project, lcsh:Biology (General), Modeling and Simulation, General Agricultural and Biological Sciences, Sequence Alignment, Algorithm, Algorithms, Software
Abstract

Background The computation of accurate alignments of cDNA sequences against a genome is at the foundation of modern genome annotation pipelines. Several factors such as presence of paralogs, small exons, non-consensus splice signals, sequencing errors and polymorphic sites pose recognized difficulties to existing spliced alignment algorithms. Results We describe a set of algorithms behind a tool called Splign for computing cDNA-to-Genome alignments. The algorithms include a high-performance preliminary alignment, a compartment identification based on a formally defined model of adjacent duplicated regions, and a refined sequence alignment. In a series of tests, Splign has produced more accurate results than other tools commonly used to compute spliced alignments, in a reasonable amount of time. Conclusion Splign's ability to deal with various issues complicating the spliced alignment problem makes it a helpful tool in eukaryotic genome annotation processes and alternative splicing studies. Its performance is enough to align the largest currently available pools of cDNA data such as the human EST set on a moderate-sized computing cluster in a matter of hours. The duplications identification (compartmentization) algorithm can be used independently in other areas such as the study of pseudogenes. Reviewers This article was reviewed by: Steven Salzberg, Arcady Mushegian and Andrey Mironov (nominated by Mikhail Gelfand).

Published
2008
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