dc.contributor.author | Gilad, S | |
dc.contributor.author | Khosravi, R | |
dc.contributor.author | Shkedy, D | |
dc.contributor.author | Uziel, T | |
dc.contributor.author | Ziv, Y | |
dc.contributor.author | Savitsky, K | |
dc.contributor.author | Rotman, G | |
dc.contributor.author | Smith, S | |
dc.contributor.author | Chessa, L | |
dc.contributor.author | Jorgensen, TJ | |
dc.contributor.author | Harnik, R | |
dc.contributor.author | Frydman, M | |
dc.contributor.author | Sanal, O | |
dc.contributor.author | Portnoi, S | |
dc.contributor.author | Goldwicz, Z | |
dc.contributor.author | Jaspers, NGJ | |
dc.contributor.author | Gatti, RA | |
dc.contributor.author | Lenoir, G | |
dc.contributor.author | Lavin, MF | |
dc.contributor.author | Tatsumi, K | |
dc.contributor.author | Wegner, RD | |
dc.contributor.author | Shiloh, Y | |
dc.contributor.author | BarShira, A | |
dc.date.accessioned | 2019-12-10T11:20:06Z | |
dc.date.available | 2019-12-10T11:20:06Z | |
dc.date.issued | 1996 | |
dc.identifier.issn | 0964-6906 | |
dc.identifier.uri | https://doi.org/10.1093/hmg/5.4.433 | |
dc.identifier.uri | http://hdl.handle.net/11655/15270 | |
dc.description.abstract | Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently identified by positional cloning and found to encode a putative 350 kDa protein with a PI 3-kinase-like domain, presumably involved in mediating cell cycle arrest in response to radiation-induced DNA damage. The nature and location of A-T mutations should provide insight into the function of the ATM protein and the molecular basis of this pleiotropic disease. 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. Additional mutations are four smaller in-frame deletions and insertions, and one substitution of a highly conserved amino acid at the PI 3-kinase domain. The emerging profile of mutations causing A-T is thus dominated by those expected to completely inactivate the AIM protein. ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T. | |
dc.language.iso | en | |
dc.publisher | Oxford Univ Press | |
dc.relation.isversionof | 10.1093/hmg/5.4.433 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Biochemistry & Molecular Biology | |
dc.subject | Genetics & Heredity | |
dc.title | Predominance of Null Mutations in Ataxia-Telangiectasia | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Human Molecular Genetics | |
dc.contributor.department | İç Hastalıkları | |
dc.identifier.volume | 5 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 433 | |
dc.identifier.endpage | 439 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |