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PRDM9

Thursday 27 December 2012

Pathology

- Rare allelic forms of PRDM9 associated with childhood leukemogenesis. (#23222848#)

  • One of the most rapidly evolving genes in humans, PRDM9, is a key determinant of the distribution of meiotic recombination events.

- PRDM9 mutations in this meiotic-specific gene have previously been associated with male infertility in humans.

- PRDM9 may be involved in pathological genomic rearrangements.

- PRDM9 variability in humans is thought to influence genomic instability.

- PRDM9 variation could have a potential role in risk of acquiring aneuploidies or genomic rearrangements associated with childhood leukemogenesis.

Open references}

- Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Hussin J, Sinnett D, Casals F, Idaghdour Y, Bruat V, Saillour V, Healy J, Grenier JC, De Malliard T, Spinella JF, Lariviere M, Busche S, Gibson G, Andersson A, Holmfeldt L, Ma J, Wei L, Zhang J, Andelfinger G, Downing J, Mullighan C, Awadalla P. Genome Res. 2012 Dec 5. PMID: #23222848# [Free]