Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
L2073fsX2135; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
6404insTT |
| Remarks |
AT2BI; 46,XX,t(14;14) clone in short term lymphocytes; 46,XX in lymphoid culture; HLA type A28,(Aw31,33),B12; exhibits increased chromosomal radiation sensitivity; increased chromosome breakage induced by bleomycin; one allele carries an insertion of TT at nucleoside 6404 (6404insTT) in exon 46 which leads to a frameshift beginning at codon 2073 and a truncation at codon 2135 (L2073fsX2135) |
| Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H, Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells HGG advances3:100085 2021 |
| PubMed ID: 35146455 |
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| Keating KE, Gueven N, Watters D, Rodemann HP, Lavin MF, Transcriptional downregulation of ATM by EGF is defective in ataxia-telangiectasia cells expressing mutant protein. Oncogene20(32):4281-90 2001 |
| PubMed ID: 11466608 |
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| Brown KD, Lataxes TA, Shangary S, Mannino JL, Giardina JF, Chen J, Baskaran R, Ionizing radiation exposure results in up-regulation of Ku70 via a p53/ataxia-telangiectasia-mutated protein-dependent mechanism. J Biol Chem275:6651-6 2000 |
| PubMed ID: 10692474 |
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| Dantzer F, Menissier-de Murcia J, Barlow C, Wynshaw-Boris A, de Murcia G, Poly(ADP-ribose) polymerase activity is not affected in ataxia telangiectasia cells and knockout mice. Carcinogenesis20:177-80 1999 |
| PubMed ID: 9934867 |
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| Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P, Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet64(6):1617-31 1999 |
| PubMed ID: 10330348 |
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| Will O, Mahler HC, Arrigo AP, Epe B, Influence of glutathione levels and heat-shock on the steady-state levels of oxidative DNA base modifications in mammalian cells. Carcinogenesis20:333-7 1999 |
| PubMed ID: 10069473 |
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| Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA, Ataxia-telangiectasia: mutations in ATM cDNA detected by protein- truncation screening. Am J Hum Genet59:40-4 1996 |
| PubMed ID: 8659541 |
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| Pandita TK, Hittelman WN, Increased initial levels of chromosome damage and heterogeneous chromosome repair in ataxia telangiectasia heterozygote cells. Mutat Res310:1-13 1994 |
| PubMed ID: 7523872 |
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| Caporossi D, Porfirio B, Nicoletti B, Palitti F, Degrassi F, De Salvia R, Tanzarella C, Hypersensitivity of lymphoblastoid lines derived from ataxia telangiectasia patients to the induction of chromosomal aberrations by etoposide (VP-16) Mutation research290:265-72 1993 |
| PubMed ID: 7694118 |
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| Wang, In situ nick translation, an alternative to cytogenetics in analyzing mutagen effects on human cells. Int J Oncol2:873 (1993):265-72 1993 |
| PubMed ID: 7694118 |
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| Hsu TC, Furlong C, The role of ethanol in oncogenesis of the upper aerodigestive tract; inhibition of DNA repair. Anticancer Res11:1995-8 1991 |
| PubMed ID: 1776831 |
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| McKinnon PJ, Burgoyne LA, Evidence for the existence of an actin-derived protein in ataxia- telangiectasia lymphoblastoid cell lines. Exp Cell Res158:413-22 1985 |
| PubMed ID: 2988987 |
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| Smith PJ, Anderson CO, Watson JV, Effects of X-irradiation and sodium butyrate on cell-cycle traverse on normal and radiosensitive lymphoblastoid cells. Exp Cell Res160:331-42 1985 |
| PubMed ID: 2412868 |
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| Cohen MM, Simpson SJ, Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res112:119-28 1983 |
| PubMed ID: 6188042 |
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| Zwelling LA, Kerrigan D, Mattern MR, Ataxia-telangiectasia cells are not uniformly deficient in poly(ADP- ribose) synthesis following X-irradiation. Mutat Res120:69-78 1983 |
| PubMed ID: 6835265 |
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| Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982 |
| PubMed ID: 6183057 |
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| Cohen MM, Simpson SJ, Pazos L, Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines. Cancer Res41:1817-23 1981 |
| PubMed ID: 6163529 |
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| Edwards MJ, Taylor AM, Flude EJ, Bleomycin induced inhibition of DNA synthesis in ataxia-telangiectasia cell lines. Biochem Biophys Res Commun102:610-6 1981 |
| PubMed ID: 6171286 |
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| Huang, Genetic and biochemical studies with ataxia telangiectasia: A review. Hum Genet59:1-9 1981 |
| PubMed ID: 10819014 |
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| Lavin MF, Davidson M, Repair of strand breaks in superhelical DNA of ataxia telangiectasia lymphoblastoid cells. J Cell Sci48:383-91 1981 |
| PubMed ID: 7276097 |
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| Littlefield LG, Colyer SP, Joiner EE, DuFrain RJ, Frome E, Cohen MM, Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines. Cytogenet Cell Genet31:203-13 1981 |
| PubMed ID: 6978798 |
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| Cohen, Absence of a clastogenic factor in ataxia telangiectasia lymphoblastoid cells. Cancer Genet Cytogenet2:327-334 1980 |
| PubMed ID: 6978798 |
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| Edwards MJ, Taylor AM, Unusual levels of (ADP-ribose)n and DNA synthesis in ataxia telangiectasia cells following gamma-ray irradiation. Nature287:745-7 1980 |
| PubMed ID: 7432491 |
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| Cohen MM, Sagi M, Ben-Zur Z, Schaap T, Voss R, Kohn G, Ben-Bassat H, Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet Cell Genet23:44-52 1979 |
| PubMed ID: 761484 |
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| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
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| Oxford JM, Harnden DG, Parrington JM, Delhanty JD, Specific chromosome aberrations in ataxia telangiectasia. J Med Genet12:251-62 1975 |
| PubMed ID: 1177276 |
| dbSNP |
dbSNP ID: 16857 |
| Gene Cards |
ATM |
| Gene Ontology |
GO:0003677 DNA binding |
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GO:0003700 transcription factor activity |
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GO:0004674 protein serine/threonine kinase activity |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0006281 DNA repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0007131 meiotic recombination |
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GO:0007165 signal transduction |
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GO:0016740 transferase activity |
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GO:0016773 phosphotransferase activity, alcohol group as acceptor |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:472 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
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