Detail of a human metaphase spread. A region in the pseudoautosomal region of the short arms of the X-chromosome (left) and the Y-chromosome (top right) was detected by Fluorescent in situ hybridization (green). Chromosomes counterstained in red.

The pseudoautosomal regions get their name because any genes located within them (so far at least 29 have been found)^[1] are inherited just like any autosomal genes.

Inheritance and function

Normal male mammals have two copies of these genes: one in the pseudoautosomal region of their Y chromosome, the other in the corresponding portion of their X chromosome. Normal females also possess two copies of pseudoautosomal genes, as each of their two X chromosomes contains a pseudoautosomal region. Crossing over between the X and Y chromosomes is normally restricted to the pseudoautosomal regions; thus, pseudoautosomal genes exhibit an autosomal, rather than sex-linked, pattern of inheritance. So, females can inherit an allele originally present on the Y chromosome of their father and males can inherit an allele originally present on the X chromosome of their father.

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

Pathology

Pairing (synapsis) of the X and Y chromosomes and crossing over (recombination) between their pseudoautosomal regions appear 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.).

See also

• Interleukin-3 receptor

References

External links

• ,

de:Pseudoautosomale Region fr:Région pseudo-autosomique

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