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The DNA sequence and comparative analysis of human chromosome 5

2004; Nature Portfolio; Volume: 431; Issue: 7006 Linguagem: Inglês

10.1038/nature02919

1476-4687

Jeremy Schmutz, Joel Martin, Astrid Terry, Olivier Couronne, Jane Grimwood, Steve Lowry, Laurie Gordon, Duncan Scott, Gary Xie, Wayne Huang, Uffe Hellsten, Mary Bao Tran-Gyamfi, Xinwei She, Shyam Prabhakar, Andrea Aerts, Michael R. Altherr, Eva Bajorek, Stacey Black, Elbert Branscomb, Chenier Caoile, Jean F. Challacombe, Yee Man Chan, Mirian Denys, John C. Detter, Julio Escobar, Dave Flowers, Dea Fotopulos, Tijana Glavina, María Gómez, Eidelyn Gonzales, David Goodstein, Igor V. Grigoriev, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren E. Haydu, Sanjay Israni, Jamie Jett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Frederick Lopez, Yunian Lou, Diego Martinez, Catherine Medina, Jenna Morgan, Richard D. Nandkeshwar, James P. Noonan, Sam Pitluck, Martin Pollard, Paul Predki, James R. Priest, Lucı́a Ramı́rez, James Retterer, Álex Rodríguez, Stephanie Rogers, Asaf Salamov, Angelica Salazar, Nina Thayer, Hope Tice, Ming Jer Tsai, Anna Ustaszewska, Nu Vo, Jeremy Wheeler, Kevin Wu, Joan Yang, Mark Dickson, Jan‐Fang Cheng, Evan E. Eichler, Anne Olsen, L Pennacchio, Daniel S. Rokhsar, Paul Richardson, Susan Lucas, R Myers, Edward M. Rubin,

RNA and protein synthesis mechanisms

Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.