10.3 Pseudo-Autosomal Regions on the X and Y Chromosomes

In evolution, before the X and Y chromosomes differentiated, they used to be equivalent homologs, like an autosome. Over time, the Y chromosome lost most of its genes (hence the reduced size), but the X chromosome retained all its genes. Thus, even though the Y chromosome has lost most of its genes, it still shares some regions with the X chromosome. This is the reason why although X and Y chromosomes are heteromorphic (morphologically dissimilar), they are able to act as a homologous pair in meiosis and undergo crossover. These common regions, contain similar genes, permit the X and Y to pair up, and are called the “pseudo-autosomal regions”. The name comes from the observation that genes in these regions behave like autosomes in their inheritance. Alleles of the genes in this region crossover just like those on the autosomes. Thus, genes in this region are not inherited in a sex-linked pattern, even though they are located on the X chromosome.

The genes found in pseudo-autosomal region are present in two copies in both XY males and XX females and, thus, expressed from both active and inactive X chromosomes. These genes may explain clinical features in sex chromosome aneuploidy (addition or subtraction of a sex chromosome; e.g., XXY) as gene products may be either under- or over-expressed in relation to normal females and males.

One of the genes in this region is called SHOX. It makes a protein that promotes bone growth. 46,XX and 46,XY people have two functioning copies and have average height. People with 47,XYY and 47,XXX genomes have three copies and are taller than average. And people with 45,X have one copy and are short. It is the single copy of SHOX and a few of the other genes in the pseudo-autosomal region that causes health problems for women with Turner syndrome.

Colorful X (pink) and Y (blue) chromosomes showing green and yellow pseudoautosomal regions at the ends of each
Figure 10.3.1 X and Y Chromosome have Pseudoautosomal Regions, Which are Capable of Pairing During Meiosis and Recombination.

Take a look at this video, Sex Chromosome Abnormalities, part of the AK Lectures (2015) series which discusses abnormalities which can occur with the sex chromosomes.

Media Attribution


AK Lectures. (2015, January 15). Sex chromosome abnormalities (video file). https://www.youtube.com/watch?v=gdXHq8FrfHI

Locke, J., Kang, M.K. (2017). Figure 3. X and Y chromosome have pseudoautosomal regions [digital image]. In Locke, J., Harrington, M., Canham, L. and Min Ku Kang (Eds.), Open Genetics Lectures, Fall 2017 (Chapter 20, p. 2). Dataverse/ BCcampus. http://solr.bccampus.ca:8001/bcc/file/7a7b00f9-fb56-4c49-81a9-cfa3ad80e6d8/1/OpenGeneticsLectures_Fall2017.pdf


Icon for the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License

Open Genetics by Natasha Ramroop Singh, Thompson Rivers University is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, except where otherwise noted.

Share This Book