Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia |
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Authors: | T. L. Kojis R. R. Schreck R. A. Gatti R. S. Sparkes |
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Affiliation: | (1) Medical Genetics-Birth Defects Center and Ahmanson Pediatric Center of Cedars-Sinai Medical School, 90048 Los Angeles, CA, USA;(2) Department of Pathology, UCLA School of Medicine, 90024 Los Angeles, CA, USA;(3) Department of Medicine, UCLA School of Medicine, 90024 Los Angeles, CA, USA;(4) Department of Pediatrics, UCLA School of Medicine, 90024 Los Angeles, CA, USA;(5) Medical Genetics, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, ASB-3/Room 378, 90048 Los Angeles, CA, USA |
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Abstract: | Summary Cytogenetic studies of lymphocytes and fibroblasts from individuals with ataxia-telangiectasia (AT) demonstrate spontaneous chromosomal breakage. In the AT lymphocytes, this damage results in a high frequency of balanced rearrangements involving chromosome bands 7p14, 7q35, 14q12, and 14q32. The T-cell receptor , , and chain gene complexes and the immunoglobulin heavy chain gene complex, all of which may be functional in lymphocytes, have been localized to these bands. To assess the relationship between genes at these breakpoints and the entirety of the AT phenotype, we undertook a detailed cytogenetic analysis of fibroblasts and lymphocytes from seven AT homozygotes. Our findings indicate that the rearrangements present in the lymphocytes are not commonly observed in the fibroblasts, despite the increased instability of chromosomes from these cells relative to lymphocytes. Furthermore, the changes in the fibroblasts are neither consistent within nor between patients, suggesting that chromosome rearrangement occurs more randomly in this tissue. Therefore, differential site-specific damage in separate tissues may generate the distinct features of the disease in those tissues and may account for the pleiotrophic effects of the AT gene. |
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