Elsevier

Genomics

Volume 33, Issue 2, 15 April 1996, Pages 317-320
Genomics

Short Communication
Genomic Organization of the ATM Gene

https://doi.org/10.1006/geno.1996.0201Get rights and content

Abstract

The ATM gene was recently identified and found to be responsible for the human genetic disorder ataxia-telangiectasia. 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.

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    The ATM gene, located on human chromosome 11q22.3-23.1, extends over 150 kb of genomic DNA composed of 66 exons, giving rise to a transcript of approximately 13 kb that contains an open reading frame (ORF). It has been reported to be involved in numerous damage repair signaling pathways and cell-cycle checkpoints [6,17–20]. Loss of heterozygosity in the region of the ATM gene has been detected in approximately 40% of human sporadic breast tumors [21–25].

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