The DNA sequence and biology of human chromosome 19

Academic Article

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.
  • Digital Object Identifier (doi)

    Author List

  • Grimwood J; Gordon LA; Olsen A; Terry A; Schmutz J; Lamerdin J; Hellsten U; Goodstein D; Couronne O; Tran-Gyamil M
  • Start Page

  • 529
  • End Page

  • 535
  • Volume

  • 428
  • Issue

  • 6982