title: Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots.
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.
authors.affiliation: Neurogenetic Unit, Généthon, Evry, France.
authors.forename: E
authors.initials: E
authors.lastname: Seboun
authors.forename: L
authors.initials: L
authors.lastname: Houghton
authors.forename: C J
authors.initials: CJ
authors.lastname: Hatem
authors.forename: R
authors.initials: R
authors.lastname: Lincoln
authors.forename: S L
authors.initials: SL
authors.lastname: Hauser
mesh_terms: D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004251:DNA Transposable Elements; D015252:Deoxyribonucleases, Type II Site-Specific; D014644:Genetic Variation; D006801:Humans; D015810:Linkage Disequilibrium; D008214:Lymphocytes / Q000276:immunology; D005810:Multigene Family; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D011995:Recombination, Genetic; D017384:Sequence Deletion
chemical_list: D004251:DNA Transposable Elements; D016693:Receptors, Antigen, T-Cell, alpha-beta; D004247:DNA; C041749:endodeoxyribonuclease SfiI; D015252:Deoxyribonucleases, Type II Site-Specific