Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
|
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
|
FLEMISH
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
133530.0004; XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME |
| Identified Mutation |
1-BP DEL, FS660TER; Nouspikel et al. (1997) studied a girl with psychomotor retardation and microcephaly who died at 6.5 years of age. She was severely sunlight-sensitive with several pigmented cutaneous spots (Jaeken et al., 1989; Vermeulen et al., 1993). She was lacking a single nucleotide within an AAA triplet at nucleotides 2170-2172, which resulted in a TGA stop codon after amino acid 659. Such a deletion was considered characteristic of a slippage error during DNA replication. The patient appeared to be homozygous for this truncation mutation.
|
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
133530.0004; XERODERMA PIGMENTOSUM, GROUP G COMBINED WITH COCKAYNE SYNDROME |
| Identified Mutation |
1-BP DEL, FS660TER; Nouspikel et al. (1997) studied a girl with psychomotor retardation and microcephaly who died at 6.5 years of age. She was severely sunlight-sensitive with several pigmented cutaneous spots (Jaeken et al., 1989; Vermeulen et al., 1993). She was lacking a single nucleotide within an AAA triplet at nucleotides 2170-2172, which resulted in a TGA stop codon after amino acid 659. Such a deletion was considered characteristic of a slippage error during DNA replication. The patient appeared to be homozygous for this truncation mutation.
|
| Remarks |
XPCS1LV; clinical characteristics of Cockayne syndrome with biochemical defect typical of XP; severe psychomotor retardation; microcephaly; skin very sensitive to sunlight; salt-and-pepper retinal pigmentation; retinal artery narrowing; donor subject is homozygous for a 1 bp deletion in an AAA triplet at nucleotides 2170_2172 of the ERCC5 gene resulting in a TGA stop codon after amino acid 659 (fs660Ter) |
| Dianov GL, Thybo T, Dianova II, Lipinski LJ, Bohr VA, Single nucleotide patch base excision repair is the major pathway for removal of thymine glycol from DNA in human cell extracts. J Biol Chem275:11809-13 2000 |
| PubMed ID: 10766805 |
| |
| 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 |
| |
| Nouspikel T, Lalle P, Leadon SA, Cooper PK, Clarkson SG, A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc Natl Acad Sci U S A94:3116-21 1997 |
| PubMed ID: 9096355 |
| |
| Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ,
Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in
the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994 |
| PubMed ID: 8304337 |
| |
| Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH, Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet53:185-92 1993 |
| PubMed ID: 8317483 |
| |
| Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989 |
| PubMed ID: 2478446 |
| dbSNP |
dbSNP ID: 13702 |
| Gene Cards |
ERCC5 |
| Gene Ontology |
GO:0003697 single-stranded DNA binding |
|
GO:0004520 endodeoxyribonuclease activity |
|
GO:0005634 nucleus |
|
GO:0006283 transcription-coupled nucleotide-excision repair |
|
GO:0007605 perception of sound |
|
GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:2073 |
| NCBI GTR |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
|
278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| OMIM |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
|
278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Omim Description |
XERODERMA PIGMENTOSUM VII |
| |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
| |
XP, GROUP G; XPG |
| |
XP7 |
| Passage Frozen |
8 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|