GM03188

GM03188 LCL from B-Lymphocyte

Description:

ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM

Affected:

No

Sex:

Female

Age:

36 YR (At Sampling)

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

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Race

White

Family Member

Relation to Proband

mother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

ATH16Be; clinically unaffected; an A>T substitution at nucleotide 8266 (8266A>T) in exon 58 causes a truncation at codon 2756 [Lys2756ter (K2756X)]; mother of 2 affected children (1 child is GM03189-LCL/GM03487-Fibro and other child is not in the repository); spouse of GM03187(LCL)/GM03488(Fibro); see GM03489 for donor Fibroblast;

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.

Gene

ATM

Chromosomal Location

11q22.3

Allelic Variant 1

LYS2756TER; ATAXIA-TELANGIECTASIA

Identified Mutation

8266A>T

Remarks

Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021

PubMed ID: 35394024

Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, kConFab Investigators PJ, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G, Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling Genes, chromosomes & cancer45:1169-81 2006

PubMed ID: 17001622

Angele S, Romestaing P, Moullan N, Vuillaume M, Chapot B, Friesen M, Jongmans W, Cox DG, Pisani P, Gerard JP, Hall J, ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res63(24):8717-25 2003

PubMed ID: 14695186

Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003

PubMed ID: 14630542

Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS, Cheung VG, Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet71(4):791-800 2002

PubMed ID: 12226795

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

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

Sasaki T, Tian H, Kukita Y, Inazuka M, Tahira T, Imai T, Yamauchi M, Saito T, Hori T, Hashimoto-Tamaoki T, Komatsu K, Nikaido O, Hayashi K, ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. Hum Mutat12(3):186-95 1998

PubMed ID: 9711876

Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS, Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res8(12):1245-58 1998

PubMed ID: 9872980

Meredith MJ, Dodson ML, Imparied glutathione biosynthesis in cultured human ataxia- telangiectasia cells. Cancer Res47:4576-81 1987

PubMed ID: 3621155

Kohn PH, Kraemer KH, Buchanan JK, Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines. Exp Cell Res137:387-95 1982

PubMed ID: 6173245

dbSNP

dbSNP ID: 10617

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