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The DNA sequence and biology of human chromosome 19

2004; Nature Portfolio; Volume: 428; Issue: 6982 Linguagem: Inglês

10.1038/nature02399

1476-4687

Jane Grimwood, Laurie Gordon, Anne S. Olsen, Astrid Terry, Jeremy Schmutz, Jane E. Lamerdin, Uffe Hellsten, David Goodstein, Olivier Couronne, Mary Bao Tran-Gyamfi, Andrea Aerts, Michael R. Altherr, Linda K. Ashworth, Eva Bajorek, Stacey Black, Elbert Branscomb, Sean Caenepeel, A.V. 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, C. Garcı́a, Anca Georgescu, Tijana Glavina, María José Gómez, Eidelyn Gonzales, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren E. 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 Martínez, Paula McCready, Catherine Medina, Jenna Morgan, Kathryn Nelson, Matt Nolan, Ivan Ovcharenko, Sam Pitluck, Martin Pollard, Anthony P. Popkie, Paul Predki, Glenda Quan, Lucı́a Ramı́rez, Sam Rash, James Retterer, Álex Rodríguez, Stephanine Rogers, Asaf Salamov, Angelica Salazar, Xinwei She, Doug Smith, Tom Slezak, Victor Solovyev, Nina Thayer, Hope Tice, Ming Jer Tsai, Anna Ustaszewska, Nu Vo, Mark C. Wagner, Jeremy Wheeler, Kevin Wu, Gary Xie, Joan Yang, Inna Dubchak, Terrence S. Furey, Pieter DeJong, Mark Dickson, David Gordon, Evan E. Eichler, L Pennacchio, Paul Richardson, Lisa Stubbs, Daniel S. Rokhsar, R Myers, Edward M. Rubin, Susan Lucas,

Genomics and Chromatin Dynamics

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.