Ask about this productRelated genes to: MGC70924 antibody
- Gene:
- PRR19 NIH gene
- Name:
- proline rich 19
- Previous symbol:
- -
- Synonyms:
- MGC70924
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-12-17
- Date modifiied:
- 2014-11-19
Related products to: MGC70924 antibody
Related articles to: MGC70924 antibody
- Diminished ovarian reserve (DOR) is one of the leading causes of infertility, which accounts for approximately 10% of women seeking fertility treatment. However, their genetic etiology and pathogenesis are largely unknown. Recently, cyclin N-terminal domain containing 1 () was reported to be critical for meiosis in female mice. However, no mutation has been reported to be associated with reproductive diseases in humans. Here, we firstly identified mutation in a DOR patient. The homozygous splicing mutation (NM_173478.3: c.823-2A > G) was identified in a DOR patient by whole-exome sequencing. The pathogenic effect of the identified splicing mutation was investigated by sequencing the transcript from the patient's primary leukocytes and minigene assay. A CRISPR/Cas9-mediated knockout mouse line was generated to investigate its role in ovarian function. The pathogenic mechanism of the identified mutation was further verified by functional studies. As a result, minigene assay and direct transcript sequencing from the patient revealed that this splicing mutation induced aberrant exon skipping. The homozygous truncating mutation in result in the production of a C-terminally truncated protein that cannot interact with its essential meiosis partner of proline-rich protein 19 (PRR19). knockout mice were characterized by dramatically reduced size of ovaries and prematurely depleted follicular pools, which indicated its role in female fertility. In conclusion, this study is the first to identify as a novel genetic cause for DOR patients and suggests the essential role of in human reproduction. - Source: PubMed
Publication date: 2025/10/24
Sun LiweiChen YiTong KeyaLiu WeiweiLiu BeiWang YifanHuang GuoningLi Jingyu - Orderly chromosome segregation is enabled by crossovers between homologous chromosomes in the first meiotic division. Crossovers arise from recombination-mediated repair of programmed DNA double-strand breaks (DSBs). Multiple DSBs initiate recombination, and most are repaired without crossover formation, although one or more generate crossovers on each chromosome. Although the underlying mechanisms are ill-defined, the differentiation and maturation of crossover-specific recombination intermediates requires the cyclin-like CNTD1. Here, we identify PRR19 as a partner of CNTD1. We find that, like CNTD1, PRR19 is required for timely DSB repair and the formation of crossover-specific recombination complexes. PRR19 and CNTD1 co-localise at crossover sites, physically interact, and are interdependent for accumulation, indicating a PRR19-CNTD1 partnership in crossing over. Further, we show that CNTD1 interacts with a cyclin-dependent kinase, CDK2, which also accumulates in crossover-specific recombination complexes. Thus, the PRR19-CNTD1 complex may enable crossover differentiation by regulating CDK2. - Source: PubMed
Publication date: 2020/06/18
Bondarieva AnastasiiaRaveendran KavyaTelychko VladyslavRao H B D PrasadaRavindranathan RamyaZorzompokou ChrysoulaFinsterbusch FriederikeDereli IhsanPapanikos FrantzeskosTränkner DanielSchleiffer AlexanderFei Ji-FengKlimova AnnaIto MasaruKulkarni Dhananjaya SRoeder IngoHunter NeilTóth Attila