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
- The Excision Repair Cross-Complementation (ERCC) gene family is critical for the Nucleotide Excision Repair (NER) pathway, yet its clinical utility in solid tumors remains underexplored. Impaired DNA repair via ERCC alterations drives tumorigenesis and influences response to DNA-damaging therapies. This study maps the clinical and genomic landscape of ERCC mutations to highlight their potential as predictive biomarkers. - Source: PubMed
Publication date: 2026/08/21
Canbek SezinKaraağaç MelisaErmiş AleynaTürkan ŞerefTopal Cumhur Selçukİlhan NurullahYalçınkaya CemEzberci Fikret - DNA mismatch repair (MMR) deficiency has been widely utilized in forward genetic screens to identify drug resistance mutations and elucidate the mechanisms of action of cytotoxic small molecules. However, MMR deficiency generates a characteristic mutational signature enriched for C>T transitions that precludes saturation of mutagenesis. We hypothesized that expression of proofreading deficient DNA polymerase epsilon, as has been observed in patients with biallelic MMR deficiency, would enhance mutagenesis and enable identification of new resistance mutations and cytotoxin mechanisms. Here, we combine auxin-inducible degradation of Msh2 with doxycycline-inducible expression of the proofreading-deficient Polε mutant in murine small cell lung cancer (SCLC) cells. Simultaneous MMR deficiency and mutant Polε expression markedly increased the emergence of bortezomib-resistant clones relative to either perturbation alone and targeted sequencing of in bortezomib-resistant clones identified recurrent mutations previously reported in chemical mutagenesis-based resistance screens. We next applied this platform to investigate resistance to lurbinectedin, a clinically relevant therapy for SCLC. Whole-exome sequencing revealed recurrent loss-of-function alterations in nucleotide excision repair (NER) genes, most notably and , implicating NER deficiency as a major mechanism of lurbinectedin resistance and supporting a central role for NER in mediating lurbinectedin-induced cytotoxicity. Collectively, these findings establish inducible ultramutagenesis as a powerful and versatile platform for the unbiased discovery of drug resistance mechanisms and therapeutic vulnerabilities. - Source: PubMed
Publication date: 2026/06/29
Nguyen Alexander-HoiLi VickyChen Wei-MinKimberg JacobDavis Anthony JMcFadden David GPovedano Juan Manuel - The XPG endonuclease is crucial for nucleotide excision repair (NER) and other genome maintenance pathways. Precise regulation of XPG recruitment and activity during DNA repair is essential to avoid erroneous DNA incisions and genomic instability. In this study, we employed live-cell imaging to investigate how XPG is regulated during NER, focusing on its dynamic interactions with key factors involved in the pre- and post-incision steps. We found that TFIIH and XPA facilitate recruitment and association of XPG with DNA damage and that XPG localizes separately from TFIIH to UV-induced lesions. Furthermore, our results show that XPG's dissociation from DNA damage is triggered by its own incision activity as well as by that of XPF. Additionally, the exonuclease EXO1 promotes XPG dissociation, likely by processing incised DNA, even in the absence of XPG-mediated incision. Our findings help to better understand the regulatory mechanisms that control XPG activity during NER and provide important insights into the complex dynamics of the repair process. - Source: PubMed
Publication date: 2026/06/30
Muniesa-Vargas AlbaRibeiro-Silva CristinaDavó-Martínez CarlotaRaams AnjaGeverts Bartvan de Grint JacintaGanpat MaroussiaThijssen Karen LPothof JorisHoutsmuller Adriaan BTheil Arjan FVermeulen WimLans Hannes - Chorea is a hyperkinetic movement disorder with a broad differential diagnosis, ranging from acute symptomatic causes to slowly progressive neurogenetic diseases. While Huntington's disease (HD) remains the most prevalent hereditary form, numerous other genetic disorders may mimic its clinical presentation. A major diagnostic challenge arises in patients with a seemingly negative family history, which can obscure the suspicion of a genetic etiology. In patients with sporadic chorea, the potential contribution of genetic testing to the diagnostic process has not yet been systematically analyzed. - Source: PubMed
Publication date: 2026/06/19
Fodor Tekla AnnaMilenkovic IvanZimprich AlexanderBrücke Christof - Triple-negative breast cancer (TNBC) is a highly aggressive form characterized by limited therapeutic options and notable molecular diversity. The present study performed a genome-wide analysis of copy number variations (CNVs) using high-density microarrays in tumor tissue (TUM), adjacent non-tumor tissue (ADJ) and leukocytes (LEU) obtained from five patients with TNBC. The present study identified both unique and shared CNVs across tissue samples, including alterations in key chromosomal regions such as 1q23.3, 1q32.1 and 8q24.3, which harbor oncogenes such as MYC, myeloid cell leukemia 1 (MCL1) and BCL9. Losses in 6q25.2 affecting estrogen receptor 1 (ESR1) gene were also detected. CNVs were enriched in genes associated with Hallmarks of Cancer, with TUM samples showing profiles associated with 'proliferation', 'metastasis' and 'immune evasion', ADJ samples with 'growth suppression' and LEU samples with 'genomic instability'. Pathway enrichment analyses revealed disrupted functions in 'DNA repair', 'extracellular matrix organization' and 'TP53 signaling' in TUM. Notably, EGFR, excision repair cross-complementing group 4 (ERCC4) and heat shock protein 90 alpha family class B member 1 (HSP90AB1) genes emerged as potential central nodes in interaction networks and may serve as markers or therapeutic targets. To the best of our knowledge, the present study is the first CNV profiling study in TNBC in Mexican patients, highlighting the importance of including underrepresented populations in genomic research to uncover distinct molecular signatures and potential diagnostic or therapeutic avenues. Bioinformatically predicted molecular signatures of TNBC involve both common and distinct CNV-associated Hallmarks of Cancer genes, which represent candidates for screening as potential TNBC biomarkers. - Source: PubMed
Publication date: 2026/05/14
Larios-Serrato VioletaValdez-Salazar Hilda-AliciaTorres JavierCamorlinga-Ponce MargaritaPiña-Sánchez PatriciaMayani HéctorRuiz-Tachiquín Martha-Eugenia