Pseudoautosomal region

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The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes that allow the two chromosomes to pair and segregate during meiosis.

This process only occurs in gametogenesis of males as only males have both X and Y chromosomes, however the regions occur on all X chromosomes, so females have the regions on their sex chromosomes too.

The SHOX gene in the PAR1 region is the only gene that has so far been shown to be associated with disorders in humans, but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions (45,X, 47,XXX, 47,XXY, 47,XYY, etc.).

[edit] Reference

  • Blaschke RJ, Rappold G (2006). The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev. Jun; 16:233-9. PMID 16650979
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