GM03248

GM03248 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Class

Repair Defective and Chromosomal Instability Syndromes

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

FRENCH

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP-CS2; child showed features of Cockayne syndrome; 46,XY; 10% of cells show random chromosome loss/gain; XP skin changes in areas exposed to light; neurological manifestations; 30 to 50% of normal post UV induced unscheduled DNA synthesis, and 30% of normal post UV induced DNA incision activity; at the cellular level this culture has between 30 and 52% of control unscheduled DNA synthesis after UVB radiation (Moshell et al J. Cell. Biochem., Suppl. 7B:202 [Abstr],1983, Johnson and Squires Mutat. Res. DNA Repair, 273:97-118,1992); donor subject has a single expressed allele for the ERCC2 gene which carries a G-to-A substitution at nucleotide 1805 (1805G>A) resulting in a gly602-asp change [Gly602Asp (G602D)] in the protein; see GM03249 Lymphoid

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

COMPLEMENTATION GROUP

Until 1991 GM03248 was placed in the now defunct xeroderma pigmentosum complementation group H (Moshell et al in: Cellular Responses to DNA Damage, Eds. E.C. Friedberg and B.A. Bridges, pp. 209-213, Alan Liss, New York, 1983). In extensive complementation studies Johnson et al (Hum. Genet., 81:203-210, 1989), demonstrated that GM03248 was unable to complement xeroderma pigmentosum complementation group D cells, a finding confirmed by Vermuelen et al (Mutat. Res., 255:201-208, 1991). GM03248 therefore is a member of the XP-D complementation group and has a G1805A mutation in the ERCC2 gene (Broughton et al Am. J. Hum. Genet. 56:167-174, 1995). This mutation arose in a family with two affected children who expressed synptoms of both xeroderma pigmentosum and Cockayne syndrome (Lafforet and Dupuy Arch. Franc. Pediat. [Suppl.], 35:65-74, 1978).

Gene

ERCC2

Chromosomal Location

19q13.2-q13.3

Allelic Variant 1

G602D; XERODERMA PIGMENTOSUM, TYPE D

Identified Mutation

GLY602ASP

Phenotypic Data

Remarks

Publications

Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019

PubMed ID: 31499327

Alupei MC1, Maity P1, Esser PR2, Krikki I1, Tuorto F3, Parlato R4, Penzo M5, Schelling A1, Laugel V6, Montanaro L5, Scharffetter-Kochanek K1, Iben S, Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome Cell Reports23:1612-1619 2018

PubMed ID: 29742419

Wang QE, Han C, Zhao R, Wani G, Zhu Q, Gong L, Battu A, Racoma I, Sharma N, Wani AA, p38 MAPK- and Akt-mediated p300 phosphorylation regulates its degradation to facilitate nucleotide excision repair Nucleic acids research41:1722-33 2012

PubMed ID: 23275565

Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012

PubMed ID: 23083890

Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002

PubMed ID: 12034848

Dittmann KH, Dikomey E, Mayer C, Rodemann HP, The Bowman-Birk protease inhibitor enhances clonogenic cell survival of ionizing radiation-treated nucleotide excision repair-competent cells but not of xeroderma pigmentosum cells. Int J Radiat Biol76(2):223-9 2000

PubMed ID: 10716643

Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000

PubMed ID: 10786832

Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999

PubMed ID: 10447254

Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996

PubMed ID: 8823375

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al, Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet56(1):167-74 1995

PubMed ID: 7825573

Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA, Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res55(23):5656-63 1995

PubMed ID: 7585650

Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992

PubMed ID: 1372108

Robbins JH, Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D [letter] Hum Genet88:242 1991

PubMed ID: 1757099

Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JH, Bootsma D, Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res255:201-8 1991

PubMed ID: 1922152

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990

PubMed ID: 1702221

Johnson RT, Elliott GC, Squires S, Joysey VC, Lack of complementation between xeroderma pigmentosum complementation groups D and H. Hum Genet81(3):203-10 1989

PubMed ID: 2921028

Yamaizumi M, Inaoka T, Uchida T, Ohtsuka E, Microinjection of T4 endonuclease V produced by a synthetic denV gene stimulates unscheduled DNA synthesis in both xeroderma pigmentosum and normal cells. Mutat Res217:135-40 1989

PubMed ID: 2918866

Johnson RT, Squires S, Elliott GC, Rainbow AJ, Koch GL, Smith M, Analysis of DNA repair in XP-HeLa hybrids; lack of correlation between excision repair of u.v. damage and adenovirus reactivation in an XP(D)- like cell line. Carcinogenesis7:1733-8 1986

PubMed ID: 3757174

Yamaizumi M, Sugano T, Asahina H, Okada Y, Uchida T, Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. Proc Natl Acad Sci U S A83:1476-9 1986

PubMed ID: 3456596

Moshell, A.N., M.B. Ganges, M.A. Lutzner, H.G. Coon, S.F. Barrett, J-M. Dupuy, and J.H. Robbins, A new patient with both xeroderma pigmentosum and Cockayne Syndrome comprises the new xeroderma pigmentosum complementation group H J Cell Biochem Suppl7B:202 (Abstr) 1983

PubMed ID: 3456596

Lafforet D, Dupuy JM, Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome. Arch Fr Pediatr35(10 Suppl):65-74 1978

PubMed ID: 749755

Moshell, A.N., M.B. Ganges, M.A. Lutzner, H.G. Coon, S.F. Barrett, J-M. Dupuy, and J.H. Robbins, A new patient with both xeroderma pigmentosum and Cockayne Syndrome establishes the new xeroderma pigmentosum complementation group H, in: E.C. Friedberg and B.A. Bridges (Eds), Cellular Responses to DNA Damage, Liss, New York Arch Fr Pediatr35(10 Suppl):209-213 1978

PubMed ID: 749755