GM01712

GM01712 LCL from B-Lymphocyte

Description:

COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6

Affected:

Yes

Sex:

Male

Age:

21 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Class

Repair Defective and Chromosomal Instability Syndromes

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; subject alternate ID is CS2BE or CS5HO; fibroblasts are assigned to complementation group B; UV irradiation sensitive; pigmentary retinopathy symptoms; gait defect; normal DNA ligase I and II activity; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200); the second allele has a deletion of exon 10 (del665_723); HLA type Aw32,A10,Bw15,B14,(A3); see GM01098 Fibroblast;

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

DNA LIGASE I AND II

Normal DNA ligase I & II enzyme activities (Willis et al. Proc Natl Acad Sci USA 84:8016,1987). Lehmann et al (Cancer Res 48:6343-6347, 1988) also observed normal DNA ligase I & II activity profiles.

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

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

HLA TYPING

HLA type Aw32 A10 Bw15 B14 (A3)

Gene

ERCC6

Chromosomal Location

10q11

Allelic Variant 1

1179fsX1200; COCKAYNE SYNDROME, TYPE B

Identified Mutation

3614delT

Gene

ERCC6

Chromosomal Location

10q11

Allelic Variant 2

deleted exon 10; COCKAYNE SYNDROME, TYPE B

Identified Mutation

DEL EX10

Phenotypic Data

Remarks

Publications

Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024

PubMed ID: 38894680

Desai SD, Zhang H, Rodriguez-Bauman A, Yang JM, Wu X, Gounder MK, Rubin EH, Liu LF, Transcription-dependent degradation of topoisomerase I-DNA covalent complexes. Mol Cell Biol23(7):2341-50 2003

PubMed ID: 12640119

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

Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA, Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci U S A94(9):4306-11 1997

PubMed ID: 9113985

Clepet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN, The human SRY transcript. Hum Mol Genet2:2007-12 1993

PubMed ID: 8111368

Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991

PubMed ID: 2054778

Lehmann AR, Willis AE, Broughton BC, James MR, Steingrimsdottir H, Harcourt SA, Arlett CF, Lindahl T, Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome. Cancer Res48:6343-7 1988

PubMed ID: 3180052

Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):6343-7 1988

PubMed ID: 3180052

Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):6343-7 1987

PubMed ID: 3180052

Otsuka F, Kukita A, Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines-- the effects of exogenous beta-nicotinamide adenine dinucleotide. Photochem Photobiol44:757-60 1986

PubMed ID: 3562572

Windmiller, Cockayne's syndrome with chromosomal analysis. Am J Dis Child105:204 (1963):757-60 1963

PubMed ID: 3562572