GM10430

GM10430 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

20 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

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

XP6BE; positive family history; neurologic complications; see GM08207B SV40 Transformed Fibroblast; typical skin and neurologic abnormalities; onset at about age 10; donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp [ARG683TRP (R683W)] and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deletion of amino acids 36 to 61 (DEL 36_61).

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

ERCC2

Chromosomal Location

19q13.2-q13.3

Allelic Variant 1

126340.0015; XERODERMA PIGMENTOSUM, TYPE D

Identified Mutation

ARG683TRP

Gene

ERCC2

Chromosomal Location

19q13.2-q13.3

Allelic Variant 2

Deletion of AA 36-61; XERODERMA PIGMENTOSUM, TYPE D

Identified Mutation

78 bp deletion (106-183)

Phenotypic Data

Remarks

Publications

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

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

Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, Fukuro S, Tanaka K, Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. Hum Mutat9(4):322-31 1997

PubMed ID: 9101292

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997

PubMed ID: 9238033

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

Kuhnlein U, Lee B, Penhoet EE, Linn S, Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km. Nucleic Acids Res5(3):951-60 1978

PubMed ID: 643622

Kraemer KH, Coon HG, Petinga RA, Barrett SF, Rahe AE, Robbins JH, Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc Natl Acad Sci U S A72:59-63 1975

PubMed ID: 164028

Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Petinga RA, Bootsma D, Five complementation groups in xeroderma pigmentosum. Mutat Res33:327-40 1975

PubMed ID: 1243579