Ask about this productRelated genes to: ERCC4 antibody
- Gene:
- ERCC4 NIH gene
- Name:
- ERCC excision repair 4, endonuclease catalytic subunit
- Previous symbol:
- XPF
- Synonyms:
- RAD1, FANCQ
- Chromosome:
- 16p13.12
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: ERCC4 antibody
Related articles to: ERCC4 antibody
- This research aims to evaluate the polymorphism of the (XPF) gene (rs6498486) and explore its potential association to breast cancer development in women of Bangladesh, may contribute to design the screening programs for risk estimation, and to design target-based and cost-efficient treatment for the management of the disease. DNA was extracted from blood samples collected from 150 breast cancer patients and 150 healthy controls to identify rs6498486 polymorphism. For the genotyping of gene, PCR-RFLP method was used. After measuring extracted DNA samples, the pertinent genomic areas of containing the SNPs of interest were amplified by primer-directed PCR to synthesize alleles with their respective length. Then the PCR products were digested with MnLI and the digested fragments of the PCR amplification products were visualized under UV using a gel documentation system to enable size evaluation and allow for accurate, reliable genotyping of samples. AC genotype carriers in additive model 1 (AA vs. AC) showed 5.0476-fold increase in risk of breast cancer development (OR = 5.0476; 95% CI = 2.5207 to 10.1075; = 0.0001). The CC variant homozygote genotype carriers in additive model 2 (AA vs. CC) also showed a highly increased risk of 7.1111 times (OR = 7.1111; 95% CI = 3.0196 to 16.7464; = 0.0001). The combined genotype of AC + CC in the dominant model (AC + CC vs. AA) was found to have a higher risk of 5.4118 to breast cancer progression (OR = 5.4118; 95% CI = 2.7351 to 10.7078; = 0.0001). In the latent model (CC vs. AA + AC), CC carriers had shown a high risk of 1.9887 to the progression of breast cancer (OR = 1.9887; 95% CI = 1.0607 to 3.7288; = 0.0321). Carriers of the C allele in the allelic model had a higher risk of 1.9615 times (OR = 1.9615; 95% CI = 1.4175 to 2.7143; = 0.0001). Results were found statistically significant ( < 0.05), and a strong association between CC genotypes and patients even with at least one C allele in the genetic sequence. gene (rs6498486) polymorphism was associated with the probability of breast cancer in Bangladeshi women which may serve as a genetic susceptibility marker for breast cancer risk assessment. - Source: PubMed
Publication date: 2026/02/17
Hossain IffatIvy Sanjida ChowdhuryIslam Mohammad SafiqulShahriar Mohammad - Nucleotide excision repair (NER) removes bulky adducts from genomic DNA and prevents the ultraviolet light-sensitivity disease xeroderma pigmentosum, cancer and premature ageing. After initial lesion recognition by XPC in global genome repair or by stalled RNA polymerases in transcription-coupled repair, a lesion and surrounding DNA duplex are unwound by TFIIH, which includes the ATPases XPB and XPD, and additional NER factors XPA, XPF, XPG and RPA, to form a DNA bubble comprising around 27 nucleotides. The double strand-single strand (ds-ss) junction-specific endonucleases XPF and XPG cleave DNA on the 5' and 3' sides of the lesion, respectively. Here we report the functional steps and atomic structures of the ATPase-driven and lesion-dependent DNA bubble formation and arrangement of the complete NER factors for dual incision. The unwinding of nearly 30 base pairs of DNA depends mainly on the double strand DNA translocase XPB and the duplex dividers XPA and XPF. XPD binds the lesion strand with XPF at the 5' ds-ss junction. XPF cuts the lesion strand only after XPG binds the 3' ds-ss junction. The ERCC1 subunit of XPF facilitates DNA strand separation and recruitment of RPA to the non-lesion strand. These findings provide insights on the causes of human diseases and potential targets for enhancing chemotherapeutic efficacy. - Source: PubMed
Publication date: 2026/02/11
Li Eric C LKim JinseokBrussee Sem JSugasawa KaoruLuijsterburg Martijn SYang Wei - During the first meiotic division, oocytes inevitably undergo physiological DNA double-strand breaks (DSBs), which are primarily repaired through Bloom (BLM) helicase-mediated homologous recombination repair (HRR). This study investigated the consequences of BLM helicase suppression on meiotic maturation in goat oocytes, revealing that BLM helicase exhibited nuclear-predominant expression over cytoplasmic localization during meiosis I/meiosis II stages and colocalized with spindle fibers. Functional impairment of BLM helicase blocked oocyte maturation, accompanied by dysregulated expression of cumulus expansion-related genes, downregulation of oocyte paracrine factors, elevated reactive oxygen species accumulation, compromised mitochondrial function, upregulated endoplasmic reticulum stress-responsive genes, impaired autophagolysosomal activity, and disrupted Golgi distribution and ribosome function, though mitochondrial fusion and fission remained unaffected. Transcriptomics and reverse transcription quantitative polymerase chain reaction (RT-qPCR) analysis further demonstrated that the inhibition of BLM significantly downregulated expression of HRR-associated genes (REC8, PPP4C) while upregulating non-homologous end joining-associated genes (DCLRE1B, ERCC4), suggesting that BLM helicase deficiency may shift DSB repair from HRR to error-prone non-homologous end joining. Consistently, immunofluorescence staining revealed a significant increase in the DNA damage response factor phosphorylated ATM and the repair protein RAD51, indicating that BLM inhibition induces substantial DNA damage in oocytes. These results demonstrate that BLM plays a critical role in maintaining nuclear genomic stability in oocytes. This study highlights BLM helicase as a critical regulator of organelle homeostasis during meiotic progression and provides novel mechanistic insights into its multifaceted roles in oocyte maturation. - Source: PubMed
An DongweiXu JialiChen JiaqiLi ZiyangZhou BoLiu HuanChen XiangRuan Yong
- Source: PubMed
- Ototoxicity is a dose-limiting toxicity of cisplatin. Several DNA repair gene polymorphisms have been investigated for their association with cisplatin-induced ototoxicity (CIO), but their predictive value remains controversial. This systematic review evaluated genetic predisposition to CIO via DNA repair gene polymorphisms. - Source: PubMed
Publication date: 2026/01/14
Omar Nabil EMekkawi RanaSaid SalmaAbd Elrahman OmarHawasly FatimaHamad AnasElewa Hazem