ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
2001-09-01 Anne Stary , Alain Sarasin AffiliationLaboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France
Identity
HGNC
LOCATION
5q12.1
IMAGE
LEGEND
CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
CKN1,CSA,UVSS2
FUSION GENES
DNA/RNA
Transcription
2011 b
Proteins
Description
396 amino acids - 44 kDa
Function
The Cockayne syndrome group A (CSA) gene encodes a WD repeat protein that interacts with the Cockayne syndrome group B ( CSB) protein and a subunit of RNA polymerase II transcription factor TFIIH suggesting that the products of CSA and CSB genes are involved in transcription. The CSA defect leads to defective strand specific repair of transcriptionally active genes.
Mutations
Germinal
one base substitution
Implicated in
Entity name
Cockayne syndrome, CS group A
Disease
The Cockayne syndrome A is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8876179 | 1996 | UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. | Bregman DB et al |
| 7534923 | 1994 | Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. | Cleaver JE et al |
| 10851071 | 2000 | Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation. | Conforti G et al |
| 9278484 | 1997 | Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. | Dianov GL et al |
| 10839526 | 2000 | DNA repair. The bases for Cockayne syndrome. | Hanawalt PC et al |
| 7664335 | 1995 | The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. | Henning KA et al |
| 8596535 | 1996 | Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. | Itoh T et al |
| 11310397 | 2000 | Cockayne syndrome. | Khan GQ et al |
| 11516929 | 2001 | Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation. | Luo Z et al |
| 9338586 | 1997 | Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids. | McDaniel LD et al |
| 11182541 | 2001 | UV light-induced degradation of RNA polymerase II is dependent on the Cockayne's syndrome A and B proteins but not p53 or MLH1. | McKay BC et al |
| 8972530 | 1996 | Cockayne syndrome: review of 25 cases. | Ozdirim E et al |
| 9307843 | 1997 | Human cancer and DNA repair-deficient diseases. | Sarasin A et al |
| 8834235 | 1996 | Genetic analysis of twenty-two patients with Cockayne syndrome. | Stefanini M et al |
| 9685618 | 1998 | The transcription-repair coupling factor CSA is required for efficient repair only during the elongation stages of RNA polymerase II transcription. | Tu Y et al |
| 8754844 | 1996 | The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. | van Oosterwijk MF et al |
Other Information
Locus ID:
NCBI: 1161
MIM: 609412
HGNC: 3439
Ensembl: ENSG00000049167
Variants:
dbSNP: 1161
ClinVar: 1161
TCGA: ENSG00000049167
COSMIC: ERCC8
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38237647 | 2024 | Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality. | 0 |
| 38411728 | 2024 | A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. | 0 |
| 38237647 | 2024 | Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality. | 0 |
| 38411728 | 2024 | A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. | 0 |
| 36231052 | 2022 | A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. | 0 |
| 36454558 | 2022 | Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts. | 3 |
| 36231052 | 2022 | A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. | 0 |
| 36454558 | 2022 | Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts. | 3 |
| 33904453 | 2021 | Clinical and Mutation Spectra of Cockayne Syndrome in India. | 2 |
| 34203326 | 2021 | Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding. | 9 |
| 34461059 | 2021 | Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran. | 1 |
| 34581821 | 2021 | Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation. | 5 |
| 33904453 | 2021 | Clinical and Mutation Spectra of Cockayne Syndrome in India. | 2 |
| 34203326 | 2021 | Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding. | 9 |
| 34461059 | 2021 | Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran. | 1 |
Citation
Anne Stary ; Alain Sarasin
ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Atlas Genet Cytogenet Oncol Haematol. 2001-09-01
Online version: http://atlasgeneticsoncology.org/gene/301/ercc8-(excision-repair-cross-complementing-rodent-repair-deficiency-complementation-group-8)
