The DNA sequence and biology of human chromosome 19
Jane Grimwooda b✉, Laurie A. Gordonc d, Anne S. Olsenc d, Astrid Y. Terryc, Jeremy Schmutzb, Jane E. Lamerdinc d, Uffe Hellstenc, David M. Goodsteinc, Olivier Couronnec, Mary Bao Tran-Gyamfic d, Andrea L. Aertsc,
- aStanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California 94304, USA. jane@shgc.stanford.edu
- bStanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California, 94304, USA
- cDOE's Joint Genome Institute, 2800 Mitchell Avenue, Walnut Creek, California, 94598, USA
- dLawrence Livermore National Laboratory, 7000 East Avenue, Livermore, California, 94550, USA
- eLos Alamos National Laboratory, Los Alamos, New Mexico, 87545, USA
- ✉Corresponding author
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Abstract
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.