Use your antibodies-online credentials, if available.
抗Human ERCC6 抗体:
抗Rat (Rattus) ERCC6 抗体:
抗Mouse (Murine) ERCC6 抗体:
Data suggest that Cockayne Syndrome Protein B protein (CSB) is a sensor of reactive oxygen species (ROS)-induced R loops.
Case Reports: Cockayne Syndrome patients with a novel splice site ERCC6 mutation (c.2382+2T>G), and a previously described nonsense ERCC6 mutation (c.3259C>T, p.Arg1087X) in a biallelic state.
CSB recruitment to DSBs is dependent upon an interaction between CSB's newly described winged-helix domain and the NHEJ factor RIF1, but subsequent remodelling activity undertaken by CSB following DSB induction inhibits RIF1 accumulation while promoting BRCA1-mediated HR repair. In vivo remodelling assays are used to demonstrate that CSB evicts histones following generation of DSBs in a manner controlled by ATM and CDK1.
UV-induced dissociation of CSB domain interactions is a necessary step in repairing UV-induced DNA damage and that the WHD (winged helix domain) of CSB plays a key role in this dissociation.
CSB regulates double strand break repair choice by recruiting HR factors BRCA1, RPA and Rad51 while suppressing NHEJ factors at damaged chromatin in S/G2 cells. Loss of CSB impairs activation of ATM and downstream targets following induction of double strand breaks, and promotes premature exit from the G2/M checkpoint.
ERCC6 rs1917799, ERCC8 rs158572 and rs158916 demonstrated pairwise epistatic interactions to associate with chronic atrophic gastritis and gastric cancer risk. The ERCC6 rs1917799-ERCC8 rs158572 pair significantly influence ERCC6 and ERCC6-ERCC8 expression.
Let-7c-5p acted as a tumor suppressor in breast cancer possibly by negatively regulating ERCC6.
Loss of Cockayne syndrome group A protein (CSA) or Cockayne syndrome group B protein (CSB) leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures.
The present study reported two novel causative mutations on ERCC6 loci, and the clinical characteristics are described. These results add to clinical and molecular data for elucidating genotype-phenotype correlations in CS
Gene analysis showed mutations in exons 4 and 18 of the ERCC6 gene. Multiple ocular abnormalities were observed in a patient with Cockayne syndrome. A detailed ophthalmic evaluation of children with Cockayne syndrome is advised.
The role of ERCC6 in regulating response to 5-fluorouracil and drug resistance in colorectal cancer.Elevated expression of ERCC6 is associated with poor colorectal cancer patient survival.
NAP1L1 increases CSB processivity by decreasing the pausing probability during translocation. Our study, therefore, uncovers the different steps of CSB-mediated chromatin remodeling that can be regulated by NAP1L1.
pro-apoptotic effects observed after CSB ablation
the Elongin A ubiquitin ligase and the CSB protein function together in a common pathway in response to Pol II stalling and DNA damage
The discovery has been described that G1/G0 cells exhibit Cockayne syndrome B-dependent assembly of homologous recombination factors at double strand break sites within actively transcribed regions. (Review)
No significant association exists between ERCC6 polymorphisms and bladder cancer risk.
CSB plays a role in the homeostasis and function of human neurons. CSB-deficient neural networks displayed altered electrophysiological activity, including decreased synchrony, and reduced synapse density.
Study found that ERCC6 transcription may be epigenetically regulated in lens epithelial cells of age-related nuclear cataract leading to its repression.
Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes.
Our data show that in addition to promoting repeat expansion, CSB does in fact protect the genome from germ line expansions in the FXD mouse model.
This study demonistrated that Cockayne syndrome group b deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.
loss of CSB affects tandem-repeat expansions in a gender and cell-type-specific manner
CSB has been shown to regulate processes such as the transcriptional recovery after DNA damage, the p53 transcriptional response, the response to hypoxia, the response IGF-1, transactivation of nuclear receptors, transcription of housekeeping genes
CSB and PCAF play cooperative roles to establish the active state of rRNA genes by histone acetylation
Csb-/- neural precursors exhibited defective self-renewal in the neurosphere assay.
Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a cs-b xp-c murine model of Cockayne syndrome
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair
Data suggest that Cockayne syndrome B protein protects CAG repeats from expansion by either active reduction of the tract length during parent-child transmission, or by antagonizing the action of OGG1, which tends to promote expansion in somatic cells.
These results suggested that reduced repair of a DNA topoisomerase I-DNA covalent complex because of truncated CSB proteins is involved in the pathogenesis of CS-B.
MtDNA mutations are highly increased in cells from subcutaneous fat of aged Csb(m/m) mice
difference in oxidative DNA damage sensitivity between CSA- and CSB-deficient cell lines and mice
Csb-/- keratinocytes (TC-nucleotide excision repair deficient) respond by a more sustained increase in QS-phase cells and appeared more resistant to UV-B induced apoptosis than Xpa-/-.
Although small differences at the transcriptional level exist between repair-proficient Csb(+/-) mice and transcription-coupled repair defective Csb(-/-) mice, these do not have a significant effect on the ozone-induced lung injury.
oxidative DNA modifications within intact (supercoiled) mtDNA from the livers of wild-type mice and those deficient in OGG1 and/or the Cockayne syndrome B (CSB) protein for mice aged up to 23 months
The results reveal the mechanism underlying CSB-mediated activation of ribosomal DNA transcription and link G9a-dependent histone methylation to Pol I transcription elongation through chromatin.
These results suggest the in vivo accumulation of (5'S)-8,5'-cyclo-2'-deoxyadenosine in genomic DNA due to lack of its repair in csb(-/-) mice.
CSB plays a role in repair of formamidopyrimidines, possibly by interacting with and stimulating NEIL1
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544.
ATP-dependent helicase ERCC6
, Cockayne syndrome group B protein
, DNA excision repair protein ERCC-6
, cockayne syndrome protein CSB
, CS group B correcting
, excision repair cross-complementing rodent repair deficiency, complementation group 6