Uziel T, Savitsky K, Platzer M, Ziv Y, Helbitz T, Nehls M, Boehm T, Rosenthal A, Shiloh Y, Rotman G
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Genomics. 1996 Apr 15;33(2):317-20. doi: 10.1006/geno.1996.0201.
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.
ATM基因最近被鉴定出来,发现它与遗传性疾病共济失调毛细血管扩张症有关。ATM的主要转录本为13 kb。我们利用长距离PCR确定了该基因的基因组结构,并确定了其所有外显子-内含子边界。ATM基因跨越约150 kb的基因组DNA,由66个外显子组成。起始密码子位于第4外显子内。最后一个外显子为3.8 kb,包含终止密码子和约3600个核苷酸的3'非翻译区。