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.
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.
Lambert
C
C
Department of Pathology, Stanford University School of Medicine, CA 94305.
Schultz
R A
RA
Smith
M
M
Wagner-McPherson
C
C
McDaniel
L D
LD
Donlon
T
T
Stanbridge
E J
EJ
Friedberg
E C
EC
D001260:Ataxia Telangiectasia / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004249:DNA Damage; D004260:DNA Repair; D005816:Genetic Complementation Test; D006801:Humans; D006822:Hybrid Cells; D066298:In Vitro Techniques; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010641:Phenotype