Title |
Pseudoautosomal Region 1 Length Polymorphism in the Human Population
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Published in |
PLoS Genetics, November 2014
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DOI | 10.1371/journal.pgen.1004578 |
Pubmed ID | |
Authors |
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 |
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 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 75% |
Unknown | 2 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 63% |
Scientists | 3 | 38% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 2% |
Unknown | 56 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 15 | 26% |
Researcher | 9 | 16% |
Student > Master | 7 | 12% |
Student > Bachelor | 5 | 9% |
Professor > Associate Professor | 4 | 7% |
Other | 12 | 21% |
Unknown | 5 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 25 | 44% |
Biochemistry, Genetics and Molecular Biology | 17 | 30% |
Medicine and Dentistry | 4 | 7% |
Environmental Science | 1 | 2% |
Immunology and Microbiology | 1 | 2% |
Other | 1 | 2% |
Unknown | 8 | 14% |