PRDM9 activity leads to the erosion of its own binding sites and the rapid evolution of its DNA-binding domain. PRDM9 may also contribute to reproductive isolation as it is involved in hybrid sterility potentially due to a reduction of its activity in specific heterozygous contexts. (review)
Alignment of Neandertal and Denisovan sequences suggests that PRDM9 in archaic hominins was closely related to present-day human alleles that are rare and specific to African populations.
We identified PRDM9 as being associated with unusual recombination patterns and discovered a substantial excess of rare allelic forms of PRDM9 in two independent acute lymphoblastic leukemia cohorts.
observed a increased frequency of PRDM9 variants in parents who transmitted de novo 7q11.23 deletions to their offspring. These data suggest that certain PRDM9 alleles may be associated with an increased susceptibility to recurrent 7q11.23 microdeletions
Each African-enhanced hotspot is activated by a distinct spectrum of PRDM9 variants despite the fact that all are predicted to bind the same motif. This differential activation points to complex interactions between the zinc-finger array and hotspots.
findings implicate the PRDM9 gene in meiotic recombination; involvement of PRDM9 which causes histone H3 lysine 4 trimethylation implies that there is a common mechanism for recombination hotspots in eukaryotes
results provide a molecular basis for the distribution of meiotic recombination in mammals in which the binding of PRDM9 to specific DNA sequences targets the initiation of recombination at specific locations in the genome
Observational study of gene-disease association. (HuGE Navigator); Our results suggest that mutations in PRDM9 may cause idiopathic infertility in human males.
Evolutionary analysis suggests that human PRDM7 and PRDM9 genes a pair of close paralogs corresponding to a single mouse gene Prdm9 were generated by a recent gene duplication event after the divergence of the ancestors of human and mouse.
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