Kinneret Savitsky

TL;DR: A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control.

TL;DR: The molecular cloning of a cDNA contig spanning the complete open reading frame of the ATM gene provides useful clues to the function of this protein, and furthers understanding of the pleiotropic nature of the A-T mutations.

TL;DR: Of 44 A-T mutations identified by us to date, 39 (89%) are expected to inactivate the ATM protein by truncating it, by abolishing correct initiation or termination of translation, or by deleting large segments.

TL;DR: The ATM gene was recently identified and found to be responsible for the genetic disorder ataxiatelgiectasia and all of its exon-intron boundaries were identified.

TL;DR: In this paper, the authors sequenced and reported 184,490 bp of genomic sequence from the human 11q22-23 chromosomal region containing the entire ATM gene, spanning 146 kb, and 10 kb of the 5'-region of an adjacent gene named E14/NPAT.