Ask about this productRelated genes to: NHEJ1 antibody
- Gene:
- NHEJ1 NIH gene
- Name:
- non-homologous end joining factor 1
- Previous symbol:
- -
- Synonyms:
- Cernunnos, XLF, FLJ12610
- Chromosome:
- 2q35
- Locus Type:
- gene with protein product
- Date approved:
- 2006-03-30
- Date modifiied:
- 2019-04-23
Related products to: NHEJ1 antibody
Related articles to: NHEJ1 antibody
- Inherited defects of DNA double-stranded break (DSB) repair can result in radiosensitive/radiation-sensitive (RS) SCID (RS-SCID). We applied base editing to reverse mutations in patient fibroblasts, exemplifying how this technology can help interrogate RS sequence variants. - Source: PubMed
Publication date: 2026/09/03
Kadirkamanathan RenukaPreece RolandWoodbine LisaKorneeva ElenaLazareva ArinaIp WinnieQasim Waseem - Inherited defects of DNA double-stranded break (DSB) repair can result in radiosensitive/radiation-sensitive (RS) SCID (RS-SCID). We applied base editing to reverse NHEJ1 mutations in patient fibroblasts, exemplifying how this technology can help interrogate RS sequence variants. - Source: PubMed
Publication date: 2026/09/03
Kadirkamanathan RenukaPreece RolandWoodbine LisaKorneeva ElenaLazareva ArinaIp WinnieQasim Waseem - Central nervous system (CNS) tuberculosis (TB) carries high mortality and neurologic sequelae, especially when unrecognized inborn errors of immunity are present. We report a young woman with refractory TB meningitis, multiple intracranial tuberculomas, hydrocephalus, and intracranial hypertension despite 10 months of standard anti-TB therapy and corticosteroids. Severe vomiting led to poor adherence and severe weight loss. As immunologic evaluation suggested atypical combined immunodeficiency (CID); monthly intravenous immunoglobulin (IVIG) was started. Neurosurgery did not give indication for shunt surgery. Given the severity and presumed impaired antimycobacterial immunity, adjuvant interferon-γ (IFN-γ; 50 µg/m² 3 times weekly) was added to therapy with steroids. Vomiting resolved, weight improved, and treatment was tolerated. Serial magnetic resonance imaging showed reduction in leptomeningeal enhancement and tuberculoma burden without surgery; no neurologic sequelae developed. Next-generation sequencing identified a homozygous NHEJ1 variant, not confirmed by Sanger, but findings supported CID. In refractory CNS-TB with suspected immunodeficiency, IFN-γ, steroids, IVIG in addition to anti-TB therapy may improve outcomes and avoid neurosurgical intervention. Early immunological evaluation and host-directed therapy should be considered. - Source: PubMed
Publication date: 2026/08/24
Cagdas DenizGocmen RahsanSonmez GamzeAkarsu AysegulInkaya CagkanIsikay Ilkay - Germline mutations play a pivotal role in evolution and are the primary cause of hereditary diseases in humans. Although interpopulation and interspecific variations in the mutation rate and spectrum are observed, their underlying genetic basis is still unclear. In this study, we explore the genetic regulation of germline mutation rates using one of the largest publicly available datasets derived from parent-offspring whole-genome sequencing. We first showed that germline mutation rates are strongly correlated between siblings, suggesting the influence of heritable factors. We then performed a genome-wide association study (GWAS), identifying 14 loci significantly associated with mutation rates, Notably, a lead single-nucleotide polymorphism (SNP) in the gene, critical for DNA repair, was linked to a 27% increase in maternal mutation rates and a significant shift toward A-to-T mutations only in females. This mutator allele is particularly prevalent in East Asian populations, where a similar shift in the A-to-T mutation spectrum has been observed. Evolutionary analysis suggests that this allele likely emerged in the common ancestor of humans and the genus. Furthermore, the genotype at the lead SNP position in species is also the same as the human mutator allele, supporting the potential role for this allele to explain the accelerated A-to-T mutations observed in the human- lineage. Together, these results indicate that genetic variants, particularly in DNA repair pathways, contribute to variation in mutation rates and spectra across individuals and populations, with a notable sex-specific effect. - Source: PubMed
Publication date: 2026/07/31
Wu KunNan JiuhongLiu Haoxuan - Sex-specific control of genome editing remains a significant challenge in birds. Chickens exhibit a ZW sex-determination system in which the Z and W chromosomes encode genes essential for sex differentiation and germline development, providing a rationale for sex-linked genome engineering. In this study, we established the sex chromosome-linked knock-in system for Cas9 in chicken primordial germ cells (PGCs). Donor constructs carrying Cas9-GFP were engineered to integrate into either the Z chromosome (DMRT1-DMRT3 intergenic region) or the W chromosome (5' region of HINTW locus). The targeting strategy was validated in DF-1 fibroblasts and PGCs, where site-specific integration was confirmed by junction PCR and sequencing. Functionality of the integrated Cas9 was verified by targeting two different loci, demonstrating efficient genome cleavage at NHEJ1 loci and indel-associated loss of GFP fluorescence following GFP targeting. The knock-in PGCs expressed Cas9 protein while retaining germ cell markers and migration capacity, demonstrating preservation of germline identity. Collectively, our findings establish a sex chromosome-linked Cas9 knock-in system in chicken PGCs and demonstrate that these sites support stable Cas9 expression without compromising germline characteristics, thereby providing a practical foundation for controlled, sex-specific genome engineering in avian research. - Source: PubMed
Publication date: 2026/07/02
Jung Kyung MinMony Sabrina IslamChen Paula RLee KihoLee Hong Jo