Format

Send to

Choose Destination
PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov.

Pseudoautosomal region 1 length polymorphism in the human population.

Author information

1
KU Leuven, Department of Human Genetics, Leuven, Belgium; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
2
KU Leuven, Department of Human Genetics, Leuven, Belgium.
3
UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium; KU Leuven, Department of Imaging & Pathology, Biomedical Forensic Sciences, Leuven, Belgium; KU Leuven, Department of Biology, Laboratory of Biodiversity and Evolutionary Genomics, Leuven, Belgium.
4
UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
5
UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium; KU Leuven, Department of Imaging & Pathology, Biomedical Forensic Sciences, Leuven, Belgium.
6
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Erratum in

  • PLoS Genet. 2014 Dec;10(12):e1004889.

Abstract

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 the Y chromosome generates an extended PAR [corrected].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.

PMID:
25375121
PMCID:
PMC4222609
DOI:
10.1371/journal.pgen.1004578
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center