Ask about this productRelated genes to: PRDM9 antibody
- Gene:
- PRDM9 NIH gene
- Name:
- PR/SET domain 9
- Previous symbol:
- MSBP3
- Synonyms:
- PFM6, ZNF899, KMT8B
- Chromosome:
- 5p14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-11-28
- Date modifiied:
- 2016-11-03
Related products to: PRDM9 antibody
Related articles to: PRDM9 antibody
- Human chromosome 15q13.3 is a hotspot for recurrent pathogenic copy number variants (CNVs), which remain unresolved at the sequence level. We generated haplotype-resolved assemblies for 10 patient-parent trios and found that both the long ("BP4-BP5") and short ("CHRNA7") forms of 15q13.3 CNVs arise predominantly by non-allelic homologous recombination (NAHR) enabled by inversion polymorphisms. While most BP4-BP5 CNVs are structurally distinct, three breakpoints cluster in a 2 kbp -enriched recombination hotspot. CHRNA7 CNVs originate from NAHR between CHRNA7-LCR repeats embedded within locus-spanning inversions and give rise to paired deletion/duplication events. Population analyses of 581 population haplotypes reveal at least 18 distinct structural haplotypes in 15q13.3 and more than 10-fold ancestry-stratification of BP4-BP5 CNV risk, where 68.4% of Europeans but only 5.1% of East Asians are predisposed. Comparison to six ape species indicates that the duplication architecture promoting instability expanded recently and is largely human-specific. - Source: PubMed
Publication date: 2026/03/05
Höps WolframPorubsky DavidYoo DongAhnde Groot Michelleden Ouden AmberDerks RonnyHoekzema KendraHoischen AlexanderYntema Helger G Caro PilarDe Falco Alessandrovan Bon BregjeBrunetti-Pierri NicolaSchaaf Christian PEichler Evan EGilissen Christian - Programmed DNA double-strand breaks (DSBs) catalyzed by the conserved topoisomerase-like complex SPO11-TOP6BL, together with its accessory proteins, initiate meiotic recombination, a process central to meiosis. In mammals, DSBs are distributed nonrandomly at preferential genomic sites (called hotspots) defined largely by the meiosis-specific protein PRDM9. Precise temporal and spatial control of DSB formation is essential for generating genetic diversity while maintaining genomic stability during meiosis. Disruption of this process leads to aberrant recombination, chromosome mis-segregation, and reproductive defects. In this review, we summarize recent genetic, biochemical, and structural advances clarifying the molecular architecture and regulation of meiotic DSB formation in mammals. - Source: PubMed
Publication date: 2026/03/18
Tang XinzheTong Ming-Han - Hybrid sterility is a critical postzygotic barrier that limits gene flow during speciation, yet the genetic architecture underlying evolution of such barriers in the early stages of speciation remains poorly characterized. In house mice, F1 male sterility observed in crosses between Mus musculus musculus and M. m. domesticus has been attributed to incompatibilities between heterozygous autosomal Prdm9, which controls primarily the position of recombination hotspots, and copy number variation in X-linked Mir465 miRNA genes. This molecular mechanism, identified in laboratory crosses, provided the first genetic evidence of a Dobzhansky-Muller incompatibility causing F1 hybrid sterility in vertebrates and has been considered a general model across strains and laboratories. Here, we use mice from natural populations and find that F1 hybrid sterility is polymorphic and asymmetric, with fertility phenotypes modulated by the direction of the cross. Although sterile males carried incompatible Prdm9 alleles, quantitative trait loci (QTL) mapping in backcross progeny revealed no significant associations with chromosome 17, where Prdm9 resides. Instead, sterility consistently mapped to X-linked loci, and the genomic position of sterility-associated QTL shifted between reciprocal backcrosses. These findings uncover a previously unrecognized mode of hybrid sterility in which X-linked incompatibilities act independently of Prdm9, a mechanism we term Prdm9-independent X-linked sterility (PIXLS). Our results extend the established Prdm9/Mir465 model by demonstrating that hybrid sterility in house mice can arise through alternative genetic routes, highlighting the evolutionary diversity of reproductive barriers in their natural hybrid zone. - Source: PubMed
Publication date: 2026/03/12
Klusáčková PavlaWoźniewska AgataDufková PetraDumont Beth LWójcik Jan MPiálek Jaroslav - Meiotic homolog pairing relies on programmed DNA recombination and large-scale chromosome movements, yet, how these genetic and mechanical events are coordinated remains unclear. ZCWPW1 is a histone reader that recognizes PRDM9-deposited chromatin marks. We identify an unexpected role for ZCWPW1 as a regulator of rapid prophase movements (RPMs). Using super-resolution imaging, we show that ZCWPW1 is strongly enriched at subtelomeric regions of mouse spermatocytes, where it stabilizes TRF1, LINC complex components, dynein, and meiosis-specific cohesin (STAG3). Loss of ZCWPW1 disrupts telomere architecture, weakens telomere-LINC-motor coupling, and abolishes chromosome movement, leading to defective synapsis and pairing, and persistence of DSBs. These defects are more severe than, and mechanistically independent of, those observed in spermatocytes. Together, our findings reveal that ZCWPW1 acts independently of PRDM9 as a chromatin-based intranuclear regulator of telomere architecture and telomere-led chromosome movements, thereby linking telomeric chromatin state to nuclear force transmission required for faithful meiotic progression. - Source: PubMed
Publication date: 2026/02/02
Xie WenxinGowder ManjunathBazzano DominicShami Adrienne NiederriterPandey AasthaFrasca MelissaPaniker Lakshmide Almeida Luciana PreviatoBharati Binod KumarLiang JingTóth AttilaDeSantis MorganNandakumar JayakrishnanNudler EvgenyMosalaganti ShyamalPezza RobertoCole FrancescaHammoud Saher Sue - Along with germline mutations, meiotic recombination plays a fundamental role in shaping genetic diversity and thus directly influences a species' potential adaptive response to environmental change, amongst other features. Despite the recombination landscape being of central importance for a variety of questions in molecular evolution, the genome-wide distribution and frequency of recombination remains to be elucidated in many non-human primate species. Utilizing novel high-coverage genomic data from three multi-sibling families, we here provide the first estimates of the rates and patterns of crossover and non-crossover recombination in coppery titi monkeys ( ) - a socially monogamous, pair-bonded primate that serves as an important model in behavioral research. Consistent with haplorrhines, crossover and non-crossover recombination in this platyrrhine are frequently localized at PRDM9-mediated hotspots, characterized by a 15-mer binding motif with substantial similarities to the degenerate 13-mer motif found in humans. The sex-averaged crossover rate in coppery titi monkeys is comparable with those of other primates; however, no significant difference in recombination rates was observed between the sexes, despite a pronounced maternal age effect in the species. Similarities also exist with regards to the sex-specific genomic distribution of non-crossover events, though the minimal conversion tract lengths of extended events was observed to be considerably longer in maternally-inherited non-crossovers. Taken together, these similarities and differences in the recombination landscape relative to other primates highlight the importance of incorporating species-specific rates and patterns in evolutionary models, and the resources provided here will thus serve to aid future studies in this important primate model system. - Source: PubMed
Publication date: 2026/01/12
Versoza Cyril JBales Karen LJensen Jeffrey DPfeifer Susanne P