Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

Article Abstract:

The frequency of splicing mutations was studied in an independent population of people with ataxia telangiectasia (AT). Sixty-two mutations were found, of which 30 (48%) affected splicing accuracy. Ten of the 30 mutations involved canonical splice sites. Novel splice sites were created by three of the mutations. In addition, nonsense and missense mutations were identified that indirectly affected splicing. There were also cases of variant splicing in which no underlying mutation was found.

Ataxia telangiectasia

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Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

Article Abstract:

A study was conducted to examine the mutational effect of the Nijmegen breakage syndrome on nibrin, a novel DNA double-strand break repair protein. In this experiment, the cell lines of patients suffering the said disorders are assayed and fused for various phenotypes. Results revealed the existence of five truncating mutations that may be caused by defective responses to DNA double-strand breaks.

Chromosome abnormalities

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The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

Article Abstract:

Research was conducted to examine the relationship between cellular DNA damage response and double-strand break (DSB) repair in Nijmegen breakage syndrome. This involved the isolation of the p95 gene encoder from the hMre11/hRad50 protein complex. Results revealed similarities between NBS1 and the p95 gene. A direct relationship was established between DSB repair and cell cycle functions.

DNA repair, Cells (Biology), Cells

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