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Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23

Journal Article · · Proceedings of the National Academy of Sciences of the United States of America; (United States)
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  1. Stanford Univ. School of Medicine, CA (United States)
  2. Univ. of Maryland, Baltimore (United States)
  3. Univ. of California, Irvine (United States)

The hereditary human disease ataxia-telangiectasia (AT) is characterized by phenotypic complexity at the cellular level. The authors show that multiple mutant phenotypes of immortalized AT cells from genetic complementation group D (AT-D) are corrected after the introduction of a single human chromosome from a human-mouse hybrid line by microcell-mediated chromosome transfer. This chromosome is cytogenetically abnormal. It consists primarily of human chromosome 18, but it carries translocated material from the region 11q22-23, where one or more AT genes have been previously mapped by linkage analysis. A cytogenetically normal human chromosome 18 does not complement AT-D cells after microcell-mediated transfer, whereas a normal human chromosome 11 does. They conclude that the AT-D gene is located on chromosome 11q22-23.

DOE Contract Number:
FG03-88ER60676
OSTI ID:
6096756
Journal Information:
Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:13; ISSN PNASA; ISSN 0027-8424
Country of Publication:
United States
Language:
English