Evolution versus constitution: differences in chromosomal inversion

Hum Genet. 2005 Jul;117(2-3):213-9. doi: 10.1007/s00439-005-1294-z. Epub 2005 May 11.

Abstract

We compared the chromosomal breakpoints of evolutionary conserved and constitutional inversions. Multicolor banding and human-specific bacterial artificial chromosomes were applied to map the breakpoints of constitutional pericentric inversions on human chromosomes 2 and 9. For the first time, we present a high-resolution analysis of the breakpoint regions, which are characterized by gene destitution, co-localization with fragile sites, multitude repeats as well as pseudogenes and, remarkably, a large sequence homology to the opposite breakpoint. In contrast, evolutionary inversion breakpoints lack such extensive cross-hybridizing regions and are often associated with fragile sites of the genome and low-copy repeats. These molecular characteristics gave evidence for different types of inversion formation and indicate that evolutionary inversions cannot originate from constitutional inversions like those of chromosomes 2 and 9. Finally, the constitutional inversion breakpoints were investigated on three different great ape species and on four test persons each bearing the same cytogenetically determined inversion on chromosomes 2 and 9, respectively. Our data indicate the existence of different molecular breakpoints for the two variant chromosomes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Inversion / genetics*
  • Chromosome Mapping
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 2 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Evolution, Molecular*
  • Hominidae / genetics
  • Humans