Hypervariability, suppressed recombination and the genetics of individuality

Philos Trans R Soc Lond B Biol Sci. 2004 Jan 29;359(1441):129-40. doi: 10.1098/rstb.2003.1418.

Abstract

We define 'genetic individuality' as intraspecies variation that has substantial heritability and involves traits that are sufficiently common that they can be observed in any modest-sized sampling of individuals. We propose that genetic individuality is largely shaped by the combinatory shuffling of a modest number of genes, each of which exists as a family of functionally and structurally diverged alleles. Unequivocal examples of such allele families are found at the O-antigen-biosynthetic locus in Pseudomonas aeruginosa and the human leucocyte antigen locus in humans. We examine characteristic features of these allele families and explore the possibility that genetic loci with similar characteristics can be recognized in a whole-genome scan of human genetic variation.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles*
  • Base Sequence
  • Biological Evolution*
  • Genetic Variation*
  • Genome, Human
  • HLA Antigens / genetics
  • Humans
  • Models, Genetic*
  • Molecular Sequence Data
  • O Antigens / genetics
  • Pseudomonas aeruginosa
  • Recombination, Genetic / genetics*
  • Selection, Genetic

Substances

  • HLA Antigens
  • O Antigens
  • O antigen, Pseudomonas