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

Clare Lambert, Roger A. Schultz, Moyra Smith, Caryn Wagner-Mcpherson, Lisa D. Mcdaniel, Tim Donlon, Eric J. Stanbridge, Errol C. Friedberg

Research output: Contribution to journalArticle

31 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)5907-5911
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number13
StatePublished - Sep 4 1991



  • DNA synthesis
  • cell cycle
  • gene transfer
  • hereditary diseases
  • ionizing radiation

ASJC Scopus subject areas

  • General

Cite this