Abstract
Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder that arises because of mutations in the ATM gene. The 5762ins137 A-->G point mutation activates a cryptic splice donor site resulting in a 137 bp intronic insert being aberrantly spliced into the ATM transcript. However, normal ATM transcript also is produced from this affected allele, albeit at significantly reduced levels. An exceptionally mild A-T phenotype occurs as a result of homozygosity for the 5762ins137 mutation because of relative preservation of ATM protein expression/kinase activity.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alanine / genetics
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Ataxia Telangiectasia / genetics*
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Ataxia Telangiectasia / metabolism
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Ataxia Telangiectasia / pathology
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Ataxia Telangiectasia Mutated Proteins
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Blood Cells / metabolism
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Blood Cells / radiation effects
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Blotting, Western / methods
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Cell Cycle Proteins
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Cell Line
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Cerebellum / pathology
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DNA Mutational Analysis
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DNA-Binding Proteins
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Glycine / genetics
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Homozygote*
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Humans
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Magnetic Resonance Imaging / methods
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Male
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Phosphorylation
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Point Mutation*
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Protein Serine-Threonine Kinases / genetics*
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Protein Serine-Threonine Kinases / metabolism
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RNA Splice Sites
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Radiation Tolerance / genetics
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Serine
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Tumor Suppressor Protein p53 / metabolism
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Tumor Suppressor Proteins
Substances
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Cell Cycle Proteins
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DNA-Binding Proteins
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RNA Splice Sites
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Tumor Suppressor Protein p53
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Tumor Suppressor Proteins
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Serine
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ATM protein, human
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Ataxia Telangiectasia Mutated Proteins
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Protein Serine-Threonine Kinases
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Alanine
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Glycine