Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q

Mamm Genome. 2002 Aug;13(8):456-62. doi: 10.1007/s00335-001-2157-0.

Abstract

Few cases of large-scale segmental paralogy have been reported in the human genome. We have identified a large (approximately 500 kb) segment on human chromosome (HC) 21 (21q22) that is triplicated on HC 1 (1p35) and HC 6 (6p12-21). We also identified a new member of CLIC (Chloride Intracellular Channel) family on 21q, namely CLIC6. All three segments appear to include three functional members of three different gene families: DSCR1-like (Down Syndrome Candidate Region 1-like), CLIC, and AML/Runt (Acute Myeloid Leukemia/Runt). Molecular evolution analysis shows a common evolutionary origin for the triplicated regions. This finding of a further large-scale genomic triplication that went undetected at previously systematic automated searches provides a new model for gene divergence study and underlines the need for new tools to effectively detect inter-chromosomal similarity. An algorithm to overcome current limitations is proposed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Chloride Channels / genetics
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 6*
  • Evolution, Molecular
  • Gene Duplication*
  • Genome, Human*
  • Humans
  • Molecular Sequence Data
  • Multigene Family
  • Phosphoproteins / genetics
  • Phylogeny

Substances

  • CLIC6 protein, human
  • Chloride Channels
  • Phosphoproteins
  • parchorin protein, Oryctolagus cuniculus