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25 April 2024
 
  » pubmed » pmid15057824

 Article overview



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 Clel ; Alex Copel ; 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 ;
Date 1 Apr 2004
Journal Nature, 428 (6982), 529-35
AbstractChromosome 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.
Source PubMed, pmid15057824 doi: 10.1038/nature02399
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