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 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)5907-5911
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume88
Issue number13
StatePublished - Jul 1 1991

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Ataxia Telangiectasia
Somatostatin-Secreting Cells
Chromosome Mapping
Human Chromosomes
Chromosomes, Human, Pair 18
Chromosomes
Chromosomes, Human, Pair 11
Inborn Genetic Diseases
Genes
Phenotype

Keywords

  • Cell cycle
  • DNA synthesis
  • Gene transfer
  • Hereditary diseases
  • Ionizing radiation

ASJC Scopus subject areas

  • General
  • Genetics

Cite this

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

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 88, No. 13, 01.07.1991, p. 5907-5911.

Research output: Contribution to journalArticle

Lambert, Clare ; Schultz, Roger A. ; Smith, Moyra ; Wagner-Mcpherson, Caryn ; Mcdaniel, Lisa D. ; Donlon, Tim ; Stanbridge, Eric J. ; Friedberg, Errol C. / 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. In: Proceedings of the National Academy of Sciences of the United States of America. 1991 ; Vol. 88, No. 13. pp. 5907-5911.
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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.",
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AU - Schultz, Roger A.

AU - Smith, Moyra

AU - Wagner-Mcpherson, Caryn

AU - Mcdaniel, Lisa D.

AU - Donlon, Tim

AU - Stanbridge, Eric J.

AU - Friedberg, Errol C.

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N2 - 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.

AB - 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.

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