Pseudoautosomal region

From Wikipedia, the free encyclopedia

The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes

The pseudoautosomal regions get their name because any genes located within them (so far only 9 have been found) are inherited just like any autosomal genes.

Males have two copies of these genes: one in the pseudoautosomal region of their Y, the other in the corresponding portion of their X chromosome.

So males can inherit a gene originally present on the X chromosome of their father and females can inherit a gene originally present on the Y chromosome of their father.

The function of these pseudoautosomal regions is that they that allow the the X and Y chromosomes to pair and segregate during meiosis in males.

Pairing (synapsis) of the X and Y chromosomes and crossing over (recombination) between their pseudoautosomal regions appears to be necessary for the normal progression of male meiosis. Thus, those cells in which X-Y recombination does not occur will fail to complete meiosis. Structural and/or genetic dissimilarity (due to hybridization or mutation) between the pseudoautosomal regions of the X and Y chromosomes can disrupt pairing and recombination, and consequently cause male infertility.

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.).