Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Martin A. Mensah, Matthew S. Hestand, Maarten H.D. Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L. Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N. Robinson, Joris R. Vermeesch*

*Corresponding author for this work

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The human sex chromosomes differ in sequence, except for the pseudoautosomal regions (PAR) at the terminus of the short and the long arms, denoted as PAR1 and PAR2. The boundary between PAR1 and the unique X and Y sequences was established during the divergence of the great apes. During a copy number variation screen, we noted a paternally inherited chromosome X duplication in 15 independent families. Subsequent genomic analysis demonstrated that an insertional translocation of X chromosomal sequence into theMa Y chromosome generates an extended PAR. The insertion is generated by non-allelic homologous recombination between a 548 bp LTR6B repeat within the Y chromosome PAR1 and a second LTR6B repeat located 105 kb from the PAR boundary on the X chromosome. The identification of the reciprocal deletion on the X chromosome in one family and the occurrence of the variant in different chromosome Y haplogroups demonstrate this is a recurrent genomic rearrangement in the human population. This finding represents a novel mechanism shaping sex chromosomal evolution.

Original languageEnglish
JournalPLoS Genetics
Issue number11
Publication statusPublished - 1 Jan 2014

Cite this

Mensah, M. A., Hestand, M. S., Larmuseau, M. H. D., Isrie, M., Vanderheyden, N., Declercq, M., ... Vermeesch, J. R. (2014). Pseudoautosomal Region 1 Length Polymorphism in the Human Population. PLoS Genetics, 10(11).