INVERSION OF CHROMOSOME-7 IN ATAXIA TELANGIECTASIA IS GENERATED BY A REARRANGEMENT BETWEEN T-CELL RECEPTOR-BETA AND T-CELL RECEPTOR-GAMMA GENES

  • 1 November 1989
    • journal article
    • research article
    • Vol. 74  (6) , 2076-2080
Abstract
Specific and recurrent chromosomal rearrangements are often observed in the karyotypes of phytohemagglutinin-stimulated lymphocytes. The percentage of cells demonstrating these rearrangements is dramatically increased in the genetic disease ataxia telangiectasia. Inversion of chromosome 7 represents approximately half of the chromosomal rearrangements in this disease. Because the chromosomal locations of the inv(7) breakpoints coincide precisely with those of the T-cell antigen receptor (TCR) .beta. and .gamma. genes, it has been hypothesized that this rearrangement may occur by recombination between those two loci. Here, we present direct evidence that inversion of chromosome 7 in ataxia telangiectasia is generated by site-specific recombination between a TCR.gamma. variable segment and a TCR.beta. joining segment.

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