Article
Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.
American journal of human genetics - 3 Apr 2025
Poriswanish Nitikorn, Eales James, Xu Xiaoguang, Scannali David, Neumann Rita, Wetton Jon H, Tomaszewski Maciej, Jobling Mark A, May Celia A
Abstract excerpt
The 2.7-Mb major pseudoautosomal region (PAR1) on the short arms of the human X and Y chromosomes plays a critical role in meiotic sex chromosome segregation and male fertility and has been regarded as evolutionarily stable. However, some European Y chromosomes belonging to Y haplogroups (Y-Hgs) R1b and I2a carry an ∼115-kb extension (ePAR [extended PAR]) arising from X-Y non-allelic homologous recombination...
Topics
- Humans
- Male
- United Kingdom
- Chromosomes, Human, Y
- Biological Specimen Banks
- Phenotype
- Haplotypes
- Pseudoautosomal Regions
- Chromosomes, Human, X
- Homologous Recombination
- UK Biobank