The DNA sequence and comparative analysis of human chromosome 5

Academic Article

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.
  • Published In

  • Nature  Journal
  • Digital Object Identifier (doi)

    Author List

  • Schmutz J; Martin J; Terry A; Couronne O; Grimwood J; Lowry S; Gordon LA; Scott D; Xie G; Huang W
  • Start Page

  • 268
  • End Page

  • 274
  • Volume

  • 431
  • Issue

  • 7006