Abstract
The ATM gene was recently identified and found to be responsible for the genetic disorder ataxiatelgiectasia. The major ATM transcript is 13 kb. Using long-distance PCR, we determined the genomic structure of this gene and identified all of its exon-intron boundaries. The ATM gene spans approximately 150 kb of genomic DNA and consists of 66 exons. The initiation codon falls within exon 4. The last exon is 3.8 kb and contains the stop codon and a 3'-untranslated region of about 3600 nucleotides.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Ataxia Telangiectasia / genetics
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Ataxia Telangiectasia / metabolism*
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Ataxia Telangiectasia Mutated Proteins
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Base Sequence
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Cell Cycle Proteins
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DNA, Complementary
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DNA-Binding Proteins
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Exons
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Genome
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Humans
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Introns
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Molecular Sequence Data
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Protein Serine-Threonine Kinases*
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Proteins / genetics*
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Tumor Suppressor Proteins
Substances
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Cell Cycle Proteins
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DNA, Complementary
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DNA-Binding Proteins
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Proteins
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Tumor Suppressor Proteins
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ATM protein, human
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Ataxia Telangiectasia Mutated Proteins
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Protein Serine-Threonine Kinases