The zebrafish reference genome sequence and its relationship to the human genome
2013; Nature Portfolio; Volume: 496; Issue: 7446 Linguagem: Inglês
10.1038/nature12111
ISSN1476-4687
AutoresKerstin Howe, Matthew D. Clark, Carlos Torroja, James Torrance, Camille Berthelot, Matthieu Muffato, John Collins, Sean Humphray, Stuart McLaren, Lucy Matthews, Stuart McLaren, Ian Sealy, Mario Cáccamo, Carol Churcher, Carol Scott, Jeffrey C. Barrett, Romke Koch, Gerd-Jörg Rauch, Simon White, William Chow, Britt Kilian, Leonor Quintais, José Afonso Guerra‐Assunção, Yi Zhou, Yong Q. Gu, Jennifer Yen, Jan-Hinnerk Vogel, T. A. Eyre, Seth Redmond, Ruby Banerjee, Jianxiang Chi, Beiyuan Fu, Elizabeth Langley, Sean Maguire, Gavin K. Laird, David Lloyd, Emma J. Kenyon, Sarah Donaldson, Harminder Sehra, J. P. Almeida, Jane Loveland, Stephen J. Trevanion, Matthew C. Jones, Mike Quail, Dave Willey, Adrienne Hunt, John H. Burton, Sarah Sims, Kirsten McLay, Bob Plumb, Joy Davis, Chris M. Clee, Karen Oliver, Richard Clark, Clare Riddle, David Elliott, Glen Threadgold, Glenn Harden, Darren Ware, Sharmin Begum, Beverley Mortimore, Giselle Kerry, P. D. Heath, Benjamin Phillimore, Alan Tracey, N. Corby, Matthew Dunn, Christopher M. Johnson, Jonathan Wood, Susan Clark, Sarah Pelan, Guy Griffiths, Michelle Smith, Rebecca Glithero, Philip Howden, Nicholas Barker, Christine Lloyd, Christopher Stevens, Joanna Harley, Karen Holt, Georgios Panagiotidis, J. Lovell, Helen Beasley, Carl Henderson, Daria Gordon, Katherine A. Auger, Deborah Wright, Joanna Collins, Claire Raisen, Lauren Dyer, Kenric Leung, Lauren Robertson, Kirsty Ambridge, Daniel Leongamornlert, Sarah McGuire, Ruth Gilderthorp, Chris Griffiths, Deepa Manthravadi, Sarah Nichol, Gary Barker, Siobhan Whitehead, Mike Kay, Jacqueline Brown, Clare Murnane, Emma Gray, Matthew Humphries, Neil Sycamore, Darren Barker, David Saunders, J. M. Wallis, Anne Babbage, Sian Hammond, M. Mashreghi-Mohammadi, Lucy Barr, Sancha Martin, Paul Wray, Andrew Ellington, Nicholas Matthews, Matthew Ellwood, Rebecca Woodmansey, Graham Clark, James D. Cooper, A. Tromans, Darren Grafham, C. D. Skuce, Richard Pandian, Robert Andrews, Elliot Harrison, Andrew Kimberley, J. Garnett, Nigel Fosker, R. E. Hall, P. Garner, Daniel Kelly, Christine Bird, Sophie Palmer, Ines Gehring, Andrea Berger, Christopher M. Dooley, Zübeyde Ersan-Ürün, Cigdem Eser, Horst Geiger, Maria Geisler, Lena Karotki, A Kirn, Judith Konantz, Martina Konantz, Martina Oberländer, Silke Rudolph-Geiger, Mathias Teucke, Christa Lanz, Günter Raddatz, Kazutoyo Osoegawa, Baoli Zhu, Amanda Rapp, Sara Widaa, Cordelia Langford, Fengtang Yang, Stephan C. Schuster, Nigel P. Carter, Jennifer Harrow, Zemin Ning, Javier Herrero, Steve Searle, Anton J. Enright, Robert Geisler, Ronald H.A. Plasterk, Charles Lee, Monte Westerfield, Pieter J. de Jong, Leonard I. Zon, John H. Postlethwait, Christiane Nüsslein–Volhard, Tim Hubbard, Hugues Roest Crollius, Jane Rogers, Derek L. Stemple,
Tópico(s)RNA Research and Splicing
ResumoA high-quality sequence assembly of the zebrafish genome reveals the largest gene set of any vertebrate and provides information on key genomic features, and comparison to the human reference genome shows that approximately 70% of human protein-coding genes have at least one clear zebrafish orthologue. The genome of the zebrafish — a key model organism for the study of development and human disease — has now been sequenced and published as a well-annotated reference genome. Zebrafish turns out to have the largest gene set of any vertebrate so far sequenced, and few pseudogenes. Importantly for disease studies, comparison between human and zebrafish sequences reveals that 70% of human genes have at least one obvious zebrafish orthologue. A second paper reports on an ongoing effort to identify and phenotype disruptive mutations in every zebrafish protein-coding gene. Using the reference genome sequence along with high-throughput sequencing and efficient chemical mutagenesis, the project's initial results — covering 38% of all known protein-coding genes — they describe phenotypic consequences of more than 1,000 alleles. The long-term goal is the creation of a knockout allele in every protein-coding gene in the zebrafish genome. All mutant alleles and data are freely available at go.nature.com/en6mos . Zebrafish have become a popular organism for the study of vertebrate gene function1,2. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease3,4,5. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes6, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination.
Referência(s)