Pseudoautosomal region
Pseudoautosomal region
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Pseudoautosomal region

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Pseudoautosomal region

The pseudoautosomal regions or PARs are homologous sequences of nucleotides found within the sex chromosomes of species with an XY or ZW mechanism of sex determination.

The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) are inherited just like any autosomal genes. In humans, these regions are referred to as PAR1 and PAR2. PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 154 Mbp and 62 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. The monotremes, including the platypus and echidna, have a multiple sex chromosome system, and consequently have 8 pseudoautosomal regions.

The locations of the PARs within GRCh38 are:

The locations of the PARs within GRCh37 are:

Normal male therian 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.

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

Pseudoautosomal genes are found in two different locations: PAR1 and PAR2. These are believed to have evolved independently.

in mice, some PAR1 genes have transferred to autosomes.

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