Recombination in the Human Pseudoautosomal Region PAR1

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Recombination is a fundamental biological process, which shuffles genes between pairs of chromosomes during the production of eggs and sperm. After shuffling, the chromosomes consist of alternating sequences of genes from each parent, where the switches are the result of ‘crossovers’. Recombination is essential for eggs and sperm to receive the correct number of chromosomes, failure in which is an important cause of miscarriage, birth defects and mental retardation. Males have the particular challenge of recombining between the X and Y chromosomes. Unlike the other 22 chromosome pairs, the X and Y chromosomes do not match up, except for a small special region called PAR1, which must host a crossover. We investigate recombination in PAR1 by building a ‘map’ of where it occurs in African-American families. We use a variety of approaches, both analytical and experimental, to demonstrate the role of a protein called PRDM9 in marking crossovers in this region. PRDM9 has previously been shown to position crossovers on the other chromosomes, but a role in PAR1 was unexpected based on research in mice. We also show that the recombination map has changed in the evolutionary history of PAR1, both among human populations, and between human and chimpanzee.

Vyšlo v časopise: Recombination in the Human Pseudoautosomal Region PAR1. PLoS Genet 10(7): e32767. doi:10.1371/journal.pgen.1004503
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004503

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