Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots

Proc Natl Acad Sci U S A. 1993 Jun 1;90(11):5026-9. doi: 10.1073/pnas.90.11.5026.

Abstract

Two rare Sfi I polymorphisms of 360 kb and 280 kb present within the human T-cell antigen receptor beta-chain gene complex were revealed by pulsed-field gel electrophoresis. They represent allelic variants of the polymorphic 330- and 300-kb Sfi I fragments previously described. The 360-kb polymorphism results from duplication of the 30-kb DNA fragment responsible for the 330/300-kb insertion/deletion-related polymorphism. The 280-kb polymorphism results from a 20-kb deletion from the 300-kb SfiI allele. The rare polymorphisms also map on either side of a Sal I site located near a recombination hotspot, suggesting that germline duplications and deletions arose from nonhomologous crossover events.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 7*
  • DNA / genetics
  • DNA / isolation & purification
  • DNA Transposable Elements
  • Deoxyribonucleases, Type II Site-Specific
  • Genetic Variation
  • Humans
  • Linkage Disequilibrium
  • Lymphocytes / immunology
  • Multigene Family
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Antigen, T-Cell, alpha-beta / genetics*
  • Recombination, Genetic*
  • Sequence Deletion

Substances

  • DNA Transposable Elements
  • Receptors, Antigen, T-Cell, alpha-beta
  • DNA
  • endodeoxyribonuclease SfiI
  • Deoxyribonucleases, Type II Site-Specific