Nature 2004-04-01

The DNA sequence and biology of human chromosome 19.

Jane Grimwood, Laurie A Gordon, Anne Olsen, Astrid Terry, Jeremy Schmutz, Jane Lamerdin, Uffe Hellsten, David Goodstein, Olivier Couronne, Mary Tran-Gyamfi, Andrea Aerts, Michael Altherr, Linda Ashworth, Eva Bajorek, Stacey Black, Elbert Branscomb, Sean Caenepeel, Anthony Carrano, Chenier Caoile, Yee Man Chan, Mari Christensen, Catherine A Cleland, Alex Copeland, Eileen Dalin, Paramvir Dehal, Mirian Denys, John C Detter, Julio Escobar, Dave Flowers, Dea Fotopulos, Carmen Garcia, Anca M Georgescu, Tijana Glavina, Maria Gomez, Eidelyn Gonzales, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren Haydu, Isaac Ho, Wayne Huang, Sanjay Israni, Jamie Jett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Vladimer Larionov, Sun-Hee Leem, Frederick Lopez, Yunian Lou, Steve Lowry, Stephanie Malfatti, Diego Martinez, Paula McCready, Catherine Medina, Jenna Morgan, Kathryn Nelson, Matt Nolan, Ivan Ovcharenko, Sam Pitluck, Martin Pollard, Anthony P Popkie, Paul Predki, Glenda Quan, Lucia Ramirez, Sam Rash, James Retterer, Alex Rodriguez, Stephanine Rogers, Asaf Salamov, Angelica Salazar, Xinwei She, Doug Smith, Tom Slezak, Victor Solovyev, Nina Thayer, Hope Tice, Ming Tsai, Anna Ustaszewska, Nu Vo, Mark Wagner, Jeremy Wheeler, Kevin Wu, Gary Xie, Joan Yang, Inna Dubchak, Terrence S Furey, Pieter DeJong, Mark Dickson, David Gordon, Evan E Eichler, Len A Pennacchio, Paul Richardson, Lisa Stubbs, Daniel S Rokhsar, Richard M Myers, Edward M Rubin, Susan M Lucas

文献索引：Nature 428(6982) , 529-35, (2004)

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摘要

Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.