Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Black/African American
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
W2638X; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
TRP2638TER |
| Remarks |
Clinically unaffected; normal sensitivity to cell killing by X-irradiation; 2 affected children including GM03395; same donor as GM03382 Lymphoblast; donor subject has a G>A transition at nucleotide 7913 in exon 55 of the ATM gene (7913G>A) resulting in a substitution of a termination codon for tryptophan at codon 2638 [Trp2638Ter (W2638X)] on one allele |
| Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K, ATM loss disrupts the autophagy-lysosomal pathway Autophagy: 2020 |
| PubMed ID: 32757690 |
| |
| Ha L, Ceryak S, Patierno SR, Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement
of ATM for both apoptosis and recovery from terminal growth arrest. J Biol Chem278(20):17885-94 2003 |
| PubMed ID: 12637545 |
| |
| Rhodes N, D'Souza T, Foster CD, Ziv Y, Kirsch DG, Shiloh Y, Kastan MB, Reinhart PH, Gilmer TM, Defective potassium currents in ataxia telangiectasia fibroblasts. Genes Dev12:3686-92 1998 |
| PubMed ID: 9851975 |
| |
| Nagasawa H, Latt SA, Lalande ME, Little JB, Effects of X-irradiation on cell-cycle progression, induction of chromosomal aberrations and cell killing in ataxia telangiectasia (AT) fibroblasts. Mutat Res148:71-82 1985 |
| PubMed ID: 3969079 |
| |
| Kinsella TJ, Mitchell JB, McPherson S, Russo A, Tietze F, In vitro X-ray sensitivity in ataxia telangiectasis homozygote and heterozygote skin fibroblasts under oxic and hypoxic conditions. Cancer Res42:3950-6 1982 |
| PubMed ID: 7104995 |
| dbSNP |
dbSNP ID: 16271 |
| Gene Cards |
ATM |
| Gene Ontology |
GO:0003677 DNA binding |
|
GO:0003700 transcription factor activity |
|
GO:0004674 protein serine/threonine kinase activity |
|
GO:0005622 intracellular |
|
GO:0005634 nucleus |
|
GO:0006281 DNA repair |
|
GO:0006355 regulation of transcription, DNA-dependent |
|
GO:0007131 meiotic recombination |
|
GO:0007165 signal transduction |
|
GO:0016740 transferase activity |
|
GO:0016773 phosphotransferase activity, alcohol group as acceptor |
|
GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:472 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
|
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
|
607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
| |
AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
| |
AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
| |
AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
| |
AT1 |
| |
ATAXIA-TELANGIECTASIA; AT |
| |
LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
| Passage Frozen |
5 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|