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19 April 2024

» pubmed » pmid15372022

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The DNA sequence and comparative analysis of human chromosome 5
Jeremy Schmutz ; Joel Martin ; Astrid Terry ; Olivier Couronne ; Jane Grimwood ; Steve Lowry ; Laurie A Gordon ; Duncan Scott ; Gary Xie ; Wayne Huang ; Uffe Hellsten ; Mary Tran-Gyamfi ; Xinwei She ; Shyam Prabhakar ; Andrea Aerts ; Michael 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 ; Maria Gomez ; Eidelyn Gonzales ; David Goodstein ; Igor Grigoriev ; Matthew Groza ; Nancy Hammon ; Trevor Hawkins ; Lauren Haydu ; Sanjay Israni ; Jamie Jett ; Kristen Kadner ; Heather Kimball ; Arthur Kobayashi ; Frederick Lopez ; Yunian Lou ; Diego Martinez ; Catherine Medina ; Jenna Morgan ; Richard Nandkeshwar ; James P Noonan ; Sam Pitluck ; Martin Pollard ; Paul Predki ; James Priest ; Lucia Ramirez ; James Retterer ; Alex Rodriguez ; Stephanie Rogers ; Asaf Salamov ; Angelica Salazar ; Nina Thayer ; Hope Tice ; Ming Tsai ; Anna Ustaszewska ; Nu Vo ; Jeremy Wheeler ; Kevin Wu ; Joan Yang ; Mark Dickson ; Jan-Fang Cheng ; Evan E Eichler ; Anne Olsen ; Len A Pennacchio ; Daniel S Rokhsar ; Paul Richardson ; Susan M Lucas ; Richard M Myers ; Edward M Rubin ;
Date:	16 Sep 2004
Journal:	Nature, 431 (7006), 268-74
Abstract:	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.
Source:	PubMed, pmid15372022 doi: 10.1038/nature02919
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