Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| 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. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| HLA TYPING |
HLA type Aw32 A10 Bw15 B14 (A3) |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
1179fsX1200; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
3614delT |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
deleted exon 10; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
DEL EX10 |
| 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; |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):6343-7 1987 |
| PubMed ID: 3180052 |
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| 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 |
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| Windmiller, Cockayne's syndrome with chromosomal analysis. Am J Dis Child105:204 (1963):757-60 1963 |
| PubMed ID: 3562572 |
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