Ask about this productRelated genes to: ERCC5 antibody
- Gene:
- ERCC5 NIH gene
- Name:
- ERCC excision repair 5, endonuclease
- Previous symbol:
- ERCM2, XPGC
- Synonyms:
- -
- Chromosome:
- 13q33.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: ERCC5 antibody
Related articles to: ERCC5 antibody
- Breast cancer outcomes vary across populations, yet Native American women remain scarcely represented in tumor-genomic resources, limiting population-specific molecular insights. We generated matched somatic mutation, copy-number, and RNA-seq profiles for 17 breast tumors from Native American women and performed race-stratified comparisons with White cases from The Cancer Genome Atlas (TCGA) Breast Invasive Carcinoma (BRCA) cohort (TCGA-BRCA). We observed population-associated differences across molecular layers, including higher mutation frequencies in ARID1B, NOTCH4, and MHC class II genes (HLA-DRB1/HLA-DRB5) in Native American tumors, and broader CNV alterations in White tumors. Integrative analyses highlighted antigen processing/presentation and cell-adhesion pathways, with class II alterations in Native American tumors and class I gains (e.g., HLA-A/HLA-B) plus CD274 amplification in White tumors, suggesting differences in immune visibility and checkpoint modulation. We also noted contrasts in nucleotide-excision-repair involvement (ERCC5/POLE mutations vs ERCC1/CUL4A CNV gains), and mutational-signature analysis indicated greater MMR- and AID/POLE-associated exposures in the White cohort. To our knowledge, this study provides an initial multi-omics characterization of breast tumors from Native American women and offers a resource and hypotheses for larger, harmonized studies to assess prognostic and therapeutic relevance. - Source: PubMed
Publication date: 2026/03/17
Guo FangfangLittlepage Laurie EStack M SharonLi Jun - Cockayne syndrome is an ultra-rare (1:2.5 million) hereditary disease from the group of progeroid syndromes caused by pathogenic and probable-pathogenic variants in DNA repair genes (ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) and XPG (ERCC5)) and characterized by abnormal photosensitivity, congenital cataract, microcephaly, sensorineural hearing loss, nervous system pathology and other multisystem changes. In this manuscript, for the first time in the Russian Federation, we present the results of a clinical and genetic study and follow-up of a Russian cohort of patients. - Source: PubMed
Publication date: 2026/03/07
Kungurtseva A LPopovich A VTikhonovich Yu VIvannikova T EKovalskaia V AVasiliev P AVitebskaya A V - This study aimed to identify novel mutations associated with the progression of gastric cancer by establishing patient-derived xenograft (PDX) models and performing comprehensive genomic characterization of these PDX models and their corresponding primary tumors. - Source: PubMed
Publication date: 2026/01/29
Kong LukeWang JieZheng JunqiYang XihuaSun RuifangKou JiahuiYao YujieLi FengWang FuhuaGuo Sutang - RNA editing introduces transcriptomic variation and may contribute to complex trait regulation. However, its genetic determination in pigs remains unclear. Here, using 5457 PigGTEx RNA-seq samples across 34 porcine tissues, we construct a comprehensive RNA editome and map 49 614 cis-editing quantitative trait loci (edQTLs). These edQTLs define a distinct regulatory layer, with over 32% acting independently of expression or splicing QTLs (eQTLs/sQTLs). Crucially, edQTLs are significantly enriched in GWAS loci for 33 complex traits and show a superior contribution to heritability over eQTLs/sQTLs in some traits like growth and reproduction. Colocalization analyses pinpoint diverse causal mechanisms, revealing both edQTL-specific effects (e.g., ERCC5) and coordinated events where single variants pleiotropically modulate RNA editing, splicing, and gene expression. Human-pig comparative analysis identifies hundreds of evolutionarily conserved editing events linked to fundamental neurological pathways. This study provides the first comprehensive multi-tissue porcine RNA editome and edQTL map, establishing RNA editing as a key mechanism linking genetic variation to phenotypic diversity in a major agricultural species and offering a valuable resource for future functional genomics research. - Source: PubMed
Publication date: 2026/01/18
Pan XiangchunGong WentaoCai XiaodianTeng JinyanCai JialiZeng HaonanAyalew WondossenShen QingpengZhong ZhanmingWang YifeiZhang WenjingTian YuhanXu DantongGao YahuiYin HongweiZhang YueboHou JiahuiZhou TianruLi JiaqiFang LingzhaoYuan XiaolongZhang Zhe - 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