GM09607

GM09607 Fibroblast from Skin, Unspecified

Description:

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

Affected:

Yes

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

Class

Repair Defective and Chromosomal Instability Syndromes

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

pSVori plasmid

Sample Source

Fibroblast from Skin, Unspecified

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Mutation data has been reported in the literature for the untransformed line. New NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.8307 G>A (p.Trp2769Ter)(W2769X)/heterozygous, Chr:position 11: 108213987; 11q22.3q25 deletion/heterozygous; pSVori-transformed AT2SF fibroblasts; line TAT2SF; demonstrates x-ray resistant DNA synthesis and sensitivity to the lethal effects of ionizing radiation; no detectable freely replicating SV40 viral sequences; hyperdiploid karyotyped.

Characterizations

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

Gene

ATM

Chromosomal Location

11q22.3

Allelic Variant 1

TRP2769TER; ATAXIA-TELANGIECTASIA

Identified Mutation

c.8307G>A (p.Trp2769Ter)

Gene

ATM

Chromosomal Location

11q22.3

Allelic Variant 2

11q22.3q25; ATAXIA-TELANGIECTASIA

Identified Mutation

11q22.3q25 deletion

Phenotypic Data

Remarks

Publications

Paolacci S, Ergoren MC, De Forni D, Manara E, Poddesu B, Cugia G, Dhuli K, Camilleri G, Tuncel G, Kaya Suer H, Sultanoglu N, Sayan M, Dundar M, Beccari T, Ceccarini MR, Gunsel IS, Dautaj A, Sanlidag T, Connelly ST, Tartaglia GM, Bertelli M, In vitro and clinical studies on the efficacy of a-cyclodextrin and hydroxytyrosol against SARS-CoV-2 infection European review for medical and pharmacological sciences25:81-89 2021

PubMed ID: 34890038

Fernández-Aroca DM, Roche O, Sabater S, Pascual-Serra R, Ortega-Muelas M, Sánchez Pérez I, Belandia B, Ruiz-Hidalgo MJ, Sánchez-Prieto R, P53 pathway is a major determinant in the radiosensitizing effect of Palbociclib: Implication in cancer therapy Cancer letters451:23-33 2018

PubMed ID: 30872077

Boohaker RJ, Cui X, Stackhouse M, Xu B, ATM-mediated Snail Serine 100 phosphorylation regulates cellular radiosensitivity. Radiother Oncol.451:23-33 2013

PubMed ID: 23891091

McKerlie M, Lin S, Zhu XD, ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance Nucleic acids research40:3975-89 2012

PubMed ID: 22266654

Park J, Jo YH, Cho CH, Choe W, Kang I, Baik HH, Yoon KS, ATM-deficient human fibroblast cells are resistant to low levels of DNA double-strand break induced apoptosis and subsequently undergo drug-induced premature senescence Biochemical and biophysical research communications430:429-35 2012

PubMed ID: 23178571

Wan G, Zhang X, Langley RR, Liu Y, Hu X, Han C, Peng G, Ellis LM, Jones SN, Lu X, DNA-Damage-Induced Nuclear Export of Precursor MicroRNAs Is Regulated by the ATM-AKT Pathway Cell reports430:429-35 2012

PubMed ID: 23791529

So EY, Ausman M, Saeki T, Ouchi T, Phosphorylation of SMC1 by ATR is required for desferrioxamine (DFO)-induced apoptosis Cell death & disease2:e128 2011

PubMed ID: 21390062

Bacalini MG, Di Lonardo D, Catizone A, Ciccarone F, Bruno T, Zampieri M, Guastafierro T, Calabrese R, Fanciulli M, Passananti C, Caiafa P, Reale A, Poly(ADP-ribosyl)ation affects stabilization of Che-1 protein in response to DNA damage DNA repair10:380-9 2010

PubMed ID: 21317046

Pennarun G, Granotier C, Hoffschir F, Mandine E, Biard D, Gauthier LR, Boussin FD, Role of ATM in the telomere response to the G-quadruplex ligand 360A Nucleic acids research36:1741-54 2008

PubMed ID: 18263609

Zhang S, Zhou Y, Trusa S, Meng X, Lee EY, Lee MY, A novel DNA damage response: rapid degradation of the p12 subunit of dna polymerase delta The Journal of biological chemistry282:15330-40 2007

PubMed ID: 17317665

Cuadrado M, Martinez-Pastor B, Murga M, Toledo LI, Gutierrez-Martinez P, Lopez E, Fernandez-Capetillo O, ATM regulates ATR chromatin loading in response to DNA double-strand breaks The Journal of experimental medicine203:297-303 2006

PubMed ID: 16461339

Wu X, Shell SM, Yang Z, Zou Y, Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related-dependent checkpoint pathway promotes cell survival in response to UV irradiation Cancer research66:2997-3005 2006

PubMed ID: 16540648

Lilley CE, Carson CT, Muotri AR, Gage FH, Weitzman MD, DNA repair proteins affect the lifecycle of herpes simplex virus 1 Proceedings of the National Academy of Sciences of the United States of America102:5844-9 2005

PubMed ID: 15824307

Syljuåsen RG, Sørensen CS, Hansen LT, Fugger K, Lundin C, Johansson F, Helleday T, Sehested M, Lukas J, Bartek J, Inhibition of human Chk1 causes increased initiation of DNA replication, phosphorylation of ATR targets, and DNA breakage Molecular and cellular biology25:3553-62 2005

PubMed ID: 15831461

Viniegra JG, Martinez N, Modirassari P, Losa JH, Parada Cobo C, Lobo VJ, Luquero CI, Alvarez-Vallina L, Ramon y Cajal S, Rojas JM, Sanchez-Prieto R, Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM. J Biol Chem280(6):4029-36 2005

PubMed ID: 15546863

Zhang Z, Ferraris JD, Irarrazabal CE, Dmitrieva NI, Park JH, Burg MB, Ataxia telangiectasia-mutated, a DNA damage-inducible kinase, contributes to high NaCl-induced nuclear localization of transcription factor TonEBP/OREBP American journal of physiology Renal physiology289:F506-11 2005

PubMed ID: 15840767

Bilyeu JD, Panta GR, Cavin LG, Barrett CM, Turner EJ, Sweatman TW, Israel M, Lothstein L, Arsura M, Circumvention of nuclear factor kappaB-induced chemoresistance by cytoplasmic-targeted anthracyclines. Mol Pharmacol65(4):1038-47 2004

PubMed ID: 15044634

Garg R, Callens S, Lim DS, Canman CE, Kastan MB, Xu B, Chromatin association of rad17 is required for an ataxia telangiectasia and rad-related kinase-mediated S-phase checkpoint in response to low-dose ultraviolet radiation. Mol Cancer Res2(6):362-9 2004

PubMed ID: 15235112

Irarrazabal CE, Liu JC, Burg MB, Ferraris JD, ATM, a DNA damage-inducible kinase, contributes to activation by high NaCl of the transcription factor TonEBP/OREBP. Proc Natl Acad Sci U S A101(23):8809-14 2004

PubMed ID: 15173573

Panta GR, Kaur S, Cavin LG, Cortes ML, Mercurio F, Lothstein L, Sweatman TW, Israel M, Arsura M, ATM and the catalytic subunit of DNA-dependent protein kinase activate NF-kappaB through a common MEK/extracellular signal-regulated kinase/p90(rsk) signaling pathway in response to distinct forms of DNA damage. Mol Cell Biol24(5):1823-35 2004

PubMed ID: 14966265

Tosti E, Waldbaum L, Warshaw G, Gross EA, Ruggieri R, The stress kinase MRK contributes to regulation of DNA damage checkpoints through a p38gamma-independent pathway The Journal of biological chemistry279:47652-60 2004

PubMed ID: 15342622

Cortés ML, Bakkenist CJ, Di Maria MV, Kastan MB, Breakefield XO, HSV-1 amplicon vector-mediated expression of ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype Gene therapy10:1321-7 2003

PubMed ID: 12883528

Famulski KS, Al-Hijailan RS, Dobler K, Pienkowska M, Al-Mohanna F, Paterson MC, Aberrant sensing of extracellular Ca2+ by cultured ataxia telangiectasia fibroblasts. Oncogene22(3):471-5 2003

PubMed ID: 12545170

Ju R, Muller MT, Histone deacetylase inhibitors activate p21(WAF1) expression via ATM. Cancer Res63(11):2891-7 2003

PubMed ID: 12782595

Mandola MV, Stoehlmacher J, Muller-Weeks S, Cesarone G, Yu MC, Lenz HJ, Ladner RD, A novel single nucleotide polymorphism within the 5' tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res63(11):2898-904 2003

PubMed ID: 12782596

Sørensen CS, Syljuåsen RG, Falck J, Schroeder T, Rönnstrand L, Khanna KK, Zhou BB, Bartek J, Lukas J, Chk1 regulates the S phase checkpoint by coupling the physiological turnover and ionizing radiation-induced accelerated proteolysis of Cdc25A Cancer cell3:247-58 2003

PubMed ID: 12676583

Peretz S, Jensen R, Baserga R, Glazer PM, ATM-dependent expression of the insulin-like growth factor-I receptor in a pathway regulating radiation response. Proc Natl Acad Sci U S A98(4):1676-81 2001

PubMed ID: 11172010

Xiao J, Liu CC, Chen PL, Lee WH, RINT-1, a novel Rad50-interacting protein, participates in radiation-induced G(2)/M checkpoint control. J Biol Chem276(9):6105-11 2001

PubMed ID: 11096100

Dong Z, Zhong Q, Chen PL, The Nijmegen breakage syndrome protein is essential for Mre11 phosphorylation upon DNA damage. J Biol Chem274:19513-6 1999

PubMed ID: 10391882

Gately DP, Hittle JC, Chan GK, Yen TJ, Characterization of ATM expression, localization, and associated DNA-dependent protein kinase activity. Mol Biol Cell9:2361-74 1998

PubMed ID: 9725899

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

Elson A, Wang Y, Daugherty CJ, Morton CC, Zhou F, Campos-Torres J, Leder P, Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc Natl Acad Sci U S A93:13084-9 1996

PubMed ID: 8917548

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A, Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet5(4):433-9 1996

PubMed ID: 8845835

Hansell EJ, Frisch SM, Tremble P, Murnane JP, Werb Z, Simian virus 40 transformation alters the actin cytoskeleton, expression of matrix metalloproteinases and inhibitors of metalloproteinases, and invasive behavior of normal and ataxia- telangiectasia human skin fibroblasts. Biochem Cell Biol73:373-89 1995

PubMed ID: 8703410

Meyn MS, High spontaneous intrachromosomal recombination rates in ataxia- telangiectasia. Science260:1327-30 1993

PubMed ID: 8493577

Tatsumi-Miyajima J, Yagi T, Takebe H, Analysis of mutations caused by DNA double-strand breaks produced by a restriction enzyme in shuttle vector plasmids propagated in ataxia telangiectasia cells. Mutat Res294:317-23 1993

PubMed ID: 7692271

Murnane JP, Fuller LF, Painter RB, Establishment and characterization of a permanent pSV ori--transformed ataxia-telangiectasia cell line. Exp Cell Res158:119-26 1985

PubMed ID: 2987007