Proc Natl Acad Sci U S A. 1991 Jul 1;88(13):5907-11.

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.

Lambert C, Schultz RA, Smith M, Wagner-McPherson C, McDaniel LD, Donlon T, Stanbridge EJ, Friedberg EC.

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Department of Pathology, Stanford University School of Medicine, CA 94305.

Abstract

The hereditary human disease ataxia-telangiectasia (AT) is characterized by phenotypic complexity at the cellular level. We 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. We conclude that the AT-D gene is located on chromosome 11q22-23.

PMID:: 2062869; [PubMed - indexed for MEDLINE]
PMCID:: PMC51987

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