Atm-deficient mice: a paradigm of ataxia telangiectasia
Article Abstract:
The Atm locus was disrupted via gene targeting to create a murine model of the human autosomal recessive disorder ataxia telangiectasia. Growth retardation, neurologic dysfunction, male and female infertility, the absence of mature gametes, defects in T lymphocyte maturation and extreme sensitivity to gamma-irradiation were observed in mice that are homozygous for the disrupted Atm allele. The Atm-disrupted mice were found to recapitulate the ataxia telangiectasia phenotype in humans. This provides a mammalian model for the pathophysiologic study of ataxia telangiectasia.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
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TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene
Article Abstract:
TEL1 encodes a 322 kDa protein that shares substantial homology with a family of Pl/protein kinases. The human ataxia telangiectasia gene is the nearest homolog to TEL1. Mutations in TEL1 gene lead to reduced length of telomeres. Yeast chromosome ends differ in length of the terminal poly{G(sub 1-3)T} tract. The partial regulation of telomere length by signal induced by Tel1p is discussed.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1
Article Abstract:
A study of the TEL1 gene, the yeast homolg of the human ataxia telangiectasia-mutated gene, using recombinant genetic methods shows that the yeast checkpoint gene MEC1 and TEL1 are functionally associated. Extra dosage of TEl1 rescues sensitivity of mec1-1 to DNA-damaging agents and rescues feasibility of a mec1 disruption. The double mutants mec1-1 tel1-delta-1 are discussed.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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