Pseudoautosomal region 1 length polymorphism in the human population.

PLoS Genet 2014 Nov 6;10(11):e1004578. Epub 2014 Nov 6.

KU Leuven, Department of Human Genetics, Leuven, Belgium.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222609PMC
November 2014
49 Reads

Publication Analysis

Top Keywords

human population
8
ltr6b repeat
8
chromosome
6
[corrected]the insertion
4
insertion generated
4
par [corrected]the
4
generates extended
4
chromosome generates
4
extended par
4
non-allelic homologous
4
548 ltr6b
4
repeat chromosome
4
recombination 548
4
homologous recombination
4
sequence chromosome
4
generated non-allelic
4
translocation chromosomal
4
chromosome duplication
4
duplication independent
4
inherited chromosome
4

Altmetric Statistics

Similar Publications