Pseudoautosomal region 1 length polymorphism in the human population.
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.
KU Leuven, Department of Human Genetics, Leuven, Belgium; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Martin A
MA
Mensah
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Matthew S
MS
Hestand
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.
Maarten H D
MH
Larmuseau
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Mala
M
Isrie
UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
Nancy
N
Vanderheyden
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Matthias
M
Declercq
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Erika L
EL
Souche
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Jeroen
J
Van Houdt
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Radka
R
Stoeva
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Hilde
H
Van Esch
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Koen
K
Devriendt
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Thierry
T
Voet
UZ Leuven, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium; KU Leuven, Department of Imaging & Pathology, Biomedical Forensic Sciences, Leuven, Belgium.
Ronny
R
Decorte
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Peter N
PN
Robinson
KU Leuven, Department of Human Genetics, Leuven, Belgium.
Joris R
JR
Vermeesch
D000818:Animals; D002875:Chromosomes / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019143:Evolution, Molecular; D006239:Haplotypes; D015186:Hominidae / Q000235:genetics; D059765:Homologous Recombination / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014178:Translocation, Genetic