Generation and annotation of the DNA sequences of human chromosomes 2 and 4

Academic Article


  • Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
  • Published In

  • Nature  Journal
  • Digital Object Identifier (doi)

    Author List

  • Hillier LDW; Graves TA; Fulton RS; Fulton LA; Pepin KH; Minx P; Wagner-McPherson C; Layman D; Wylie K; Sekhon M
  • Start Page

  • 724
  • End Page

  • 731
  • Volume

  • 434
  • Issue

  • 7034