PRDM9

PRDM9 is a gene that encodes a protein in humans. This protein is a member of the PR/SET domain protein family and is known to play a significant role in meiosis, a type of cell division that results in four daughter cells each with half the number of chromosomes of the parent cell.

Function

The PRDM9 protein is a histone methyltransferase that specifically trimethylates 'Lys-4' of histone H3 during meiotic prophase. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. This protein also contains a Kruppel-associated box (KRAB) domain, which is a transcriptional repressor. The role of PRDM9 in meiosis is to determine the locations of recombination hotspots in the genome.

Clinical significance

Mutations in the PRDM9 gene have been associated with infertility in men. These mutations can lead to a decrease in the number of recombination hotspots, which can in turn lead to an increase in the number of aneuploid sperm, sperm with an abnormal number of chromosomes. This can result in infertility or an increased risk of miscarriage or birth defects.

See also

• PR domain
• Meiosis
• Histone methyltransferase
• Infertility

References

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