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Transcription profiling of ATM +/+, ATM +/- and ATM -/- human lymphoblastoid cell lines exposed to 5 Gy IR at 0, 4 and 24 hours to identify expression phenotypes in Ataxia Telangiectasia carriers and patients

ABSTRACT: Transcription profiling of ATM (Ataxia Telangiectasia Mutated) +/+ (Control), ATM +/- (AT Carrier) and ATM -/- (AT patient) human lymphoblastoid cell lines exposed to 5 Gy IR at 0, 4 and 24 hours to identify expression phenotypes in Ataxia Telangiectasia carriers and patients

ORGANISM(S): Homo sapiens

SUBMITTER: Vivian Cheung

PROVIDER: E-TABM-321 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs.

Smirnov Denis A DA Cheung Vivian G VG

American journal of human genetics 20080801 2

The defining characteristic of recessive disorders is the absence of disease in heterozygous carriers of the mutant alleles. However, it has been recognized that recessive carriers may differ from noncarriers in some phenotypes. Here, we studied ataxia telangiectasia (AT), a classical recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. We compared the gene and microRNA expression phenotypes of noncarriers, AT carriers who have one copy of the ATM mutations, an ...[more]

PMID: 18674748

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