Mechanisms underlying the suppression of chromosome rearrangements by ataxia-telangiectasia mutated

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Abstract

Chromosome rearrangements are structural variations in chromosomes, such as inversions and translocations. Chromosome rearrangements have been implicated in a variety of human diseases. Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by a broad range of clinical and cellular phenotypes. At the cellular level, one of the most prominent features of A-T cells is chromosome rearrangement, especially that in T lymphocytes. The gene that is defective in A-T is ataxia-telangiectasia mutated (ATM). The ATM protein is a serine/threonine kinase and plays a central role in the cellular response to DNA damage, particularly DNA double-strand breaks. In this review, the mechanisms by which ATM suppresses chromosome rearrangements are discussed.

Original languageEnglish
Article number1232
JournalGenes
Volume12
Issue number8
DOIs
Publication statusPublished - Aug 2021

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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