Ask about this productRelated genes to: RNF212 antibody
- Gene:
- RNF212 NIH gene
- Name:
- ring finger protein 212
- Previous symbol:
- LOC285498
- Synonyms:
- FLJ38841
- Chromosome:
- 4p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 2007-01-19
- Date modifiied:
- 2017-03-10
Related products to: RNF212 antibody
Related articles to: RNF212 antibody
- The leading cause of human pregnancy loss is aneuploidy, often tracing to errors in chromosome segregation during female meiosis. Although abnormal crossover recombination is known to confer risk for aneuploidy, limited data have hindered understanding of the potential shared genetic basis of these key molecular phenotypes. To address this gap, we performed retrospective analysis of pre-implantation genetic testing data from 139,416 in vitro fertilized embryos from 22,850 sets of biological parents. By tracing transmission of haplotypes, we identified 3,809,412 crossovers, as well as 92,485 aneuploid chromosomes. Counts of crossovers were lower in aneuploid versus euploid embryos, consistent with their role in chromosome pairing and segregation. Our analyses further revealed that a common haplotype spanning the meiotic cohesin SMC1B is associated significantly with both crossover count and maternal meiotic aneuploidy, with evidence supporting a non-coding cis-regulatory mechanism. Transcriptome- and phenome-wide association tests also implicated variation in the synaptonemal complex component C14orf39 and crossover-regulating ubiquitin ligases CCNB1IP1 and RNF212 in meiotic aneuploidy risk. More broadly, variants associated with aneuploidy often showed secondary associations with recombination, and several also exhibited associations with reproductive ageing traits. Our findings highlight the dual role of recombination in generating genetic diversity, while ensuring meiotic fidelity. - Source: PubMed
Publication date: 2026/01/21
Carioscia Sara ABiddanda ArjunStarostik Margaret RTang XiaonaHoffmann Eva RDemko Zachary PMcCoy Rajiv C - Meiotic crossovers (COs) are needed to produce genetically balanced gametes. In mammals, CO formation is mediated by a conserved set of pro-CO proteins via mechanisms that remain unclear. Here, we characterize a mammalian pro-CO factor HEIP1. In mouse HEIP1 is essential for crossover and fertility of both sexes. HEIP1 promotes crossover by orchestrating the recruitment of other pro-CO proteins, including the MutSγ complex (MSH4-MSH5) and E3 ligases (HEI10, RNF212, and RNF212B), that are required to mature CO sites and recruit the CO-specific resolution complex MutLγ. Moreover, HEIP1 directly interacts with HEI10, suggesting a direct role in controlling the recruitment of pro-CO E3 ligases. During early stages of meiotic prophase I, HEIP1 interacts with the chromosome axes, independently of recombination, before relocalizing to the central region of the synaptonemal complex. We propose that HEIP1 is a conserved master regulator of CO proteins that controls different CO maturation steps. - Source: PubMed
Publication date: 2025/10/21
De Muyt ArnaudLee SunkyungKhanal SushilDal Toe LaurineAdam CélineMercier RaphaelBorde ValérieHunter NeilRobert Thomas - Recombination is a fundamental biological process, both in participating to the creation of viable gametes and as a driver of genetic diversity. Characterising recombination is therefore of strong interest in breeding populations. In this study, we used ~ 50 K genotyped data and pedigree from two French populations (Alpine and Saanen) of domestic goats (Capra hircus) to build sex-specific recombination maps, and to explore the genetic basis of two recombination phenotypes: genome-wide recombination rate (GRR) and intra-chromosomal shuffling. - Source: PubMed
Publication date: 2025/10/16
Etourneau AliceRupp RachelServin Bertrand - Meiotic crossovers are needed to produce genetically balanced gametes. In mammals, crossover formation is mediated by a conserved set of pro-crossover proteins via mechanisms that remain unclear. Here, we characterize a mammalian pro-crossover factor HEIP1. In mouse HEIP1 is essential for crossing over and fertility of both sexes. HEIP1 promotes crossing over by orchestrating the recruitment of other pro-crossover proteins, including the MutS complex (MSH4-MSH5) and E3 ligases (HEI10, RNF212, and RNF212B), that are required to mature crossover sites and recruit the crossover-specific resolution complex MutL. Moreover, HEIP1 directly interacts with HEI10, suggesting a direct role in controlling the recruitment of pro-crossover E3 ligases. During early stages of meiotic prophase I, HEIP1 interacts with the chromosome axes, independently of recombination, before relocalizing to the central region of the synaptonemal complex. We propose that HEIP1 is a new conserved master regulator of crossover proteins that controls different crossover maturation steps. - Source: PubMed
Publication date: 2025/08/28
De Muyt ArnaudLee SunkyungKhanal SushilToe Laurine DalAdam CélineMercier RaphaelBorde ValérieHunter NeilRobert Thomas - This study investigates the synergistic effects of genetic variants in core meiotic regulator genes-SPO11, RNF212, and SYCP3-and co-occurring exposure to electronic radiation as risk factors for azoospermia among Bengali-speaking men from West Bengal, India. - Source: PubMed
Publication date: 2025/07/31
Pal SamudraPaladhi PranabDutta SauravGhosh PapiyaChattopadhyay RatnaGhosh Sujay