Ask about this productRelated genes to: C8orf45 antibody
- Gene:
- MCMDC2 NIH gene
- Name:
- minichromosome maintenance domain containing 2
- Previous symbol:
- C8orf45
- Synonyms:
- FLJ25692
- Chromosome:
- 8q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-04
- Date modifiied:
- 2014-11-19
Related products to: C8orf45 antibody
Related articles to: C8orf45 antibody
- - Source: PubMed
Publication date: 2026/03/12
Cohen OriAbou FlorenceWaldenberg NetanelGershoni MoranKleiman Sandra EParvari RutiBarak Shlomi - Non-obstructive azoospermia (NOA) is often associated with genetic variants. Whole-exome sequencing (WES) has emerged as a powerful tool in studying the genetic diagnosis of NOA and to help identify novel causal gene variants. Minichromosome maintenance domain-containing 2 (MCMDC2), an atypical yet conserved MCM protein, plays a key role in meiotic recombination and the maintenance of fertility. To date, only a limited number of MCMDC2 variants have been reported. The current study identified a novel deleterious variant (c.G226T/p.Val76Phe) of MCMDC2 by WES in a patient with NOA from a consanguineous Chinese family. Bioinformatics analysis indicated that the altered amino acid is highly conserved, and the c.G226T/p.Val76Phe variant may affect the structure and function of the MCMDC2 protein. Our results provide new insights into the underlying etiology of NOA in humans, further expanding the mutant spectrum of MCMDC2. - Source: PubMed
Publication date: 2025/09/02
Fang QiRan LanxiLiu SongDi JianyongLiu YeXu FengqinWang Binbin - ObjectivesNumerous studies on the genetic pathogenesis of familial Parkinson's Disease (PD) have explained the etiology of only a limited percentage of cases. In this study, we aimed to identify copy number variations (CNVs) in patients with familial PD compared to their healthy siblings.MethodsGenomic microarray analysis was performed using the CytoScan HD array platform, and paired copy number variation analysis was performed using Partek Genomics Suite.ResultsA total of 211 CNVs were detected in patients (genomic markers per CNV >10, markers per base pair >0.0005). Genes localized in CNV regions were enriched in the "" pathway. Subsequently, CNVs located in regions with segmental duplication, large genomic gap or "dosage sensitivity unlikely," with a frequency higher than 0.01%, and found to be "both amplified and deleted" in patients were excluded. Genes potentially affected by exonic copy number losses were HPGDS, TUBB8, ZMYND11, FLI-1, THADA, FAM47E, FAM47E-STBD1, AGMO, CYRIB, and MIR5194, while the detected copy number gains included the exons of the PCSK6, MIR4522, WSB1, C8orf44-SGK3, SGK3, and MCMDC2. No copy number variations were detected on chromosomes 13 and 18.ConclusionsHere, we report the results of the first paired CNV analysis in siblings discordant for Familial Parkinson's Disease. Validation and frequency determination of rare and novel CNVs identified in larger familial PD cohorts may reveal novel PD risk genes. The metabolism of xenobiotics by cytochrome P450 pathway deserves further functional and translational studies in familial Parkinson's disease. - Source: PubMed
Publication date: 2025/03/04
Atay SevcanAcarer AhmetAk HandanColakoglu ZaferAydin Hikmet Hakan - Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA. - Source: PubMed
Publication date: 2025/01/10
Bai Hao-WeiLi NaZhang Yu-XiangLuo Jia-QiangTian Ru-HuiLi PengHuang Yu-HuaBai Fu-RongDeng Cun-ZhongZhao Fu-JunMo RenChi NingZhou Yu-ChuanLi ZhengYao Chen-ChengZhi Er-Lei - Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases. Association analyses comparing the POI cohort with a control cohort of 5,000 individuals without POI identified 20 further POI-associated genes with a significantly higher burden of loss-of-function variants. Functional annotations of these novel 20 genes indicated their involvement in ovarian development and function, including gonadogenesis (LGR4 and PRDM1), meiosis (CPEB1, KASH5, MCMDC2, MEIOSIN, NUP43, RFWD3, SHOC1, SLX4 and STRA8) and folliculogenesis and ovulation (ALOX12, BMP6, H1-8, HMMR, HSD17B1, MST1R, PPM1B, ZAR1 and ZP3). Cumulatively, pathogenic and likely pathogenic variants in known POI-causative and novel POI-associated genes contributed to 242 (23.5%) cases. Further genotype-phenotype correlation analyses indicated that genetic contribution was higher in cases with primary amenorrhea compared to that in cases with secondary amenorrhea. This study expands understanding of the genetic landscape underlying POI and presents insights that have the potential to improve the utility of diagnostic genetic screenings. - Source: PubMed
Publication date: 2023/02/02
Ke HanniTang ShuyanGuo TingHou DongJiao XueLi ShanLuo WeiXu BingyingZhao ShidouLi GuangyuZhang XiaoxiXu ShuhuaWang LingboWu YanhuaWang JiucunZhang FengQin YingyingJin LiChen Zi-Jiang