Abstract
In 80% of XX males, maleness is due to the presence of Y–specific DNA including the SRY gene and results from an abnormal terminal X–Y interchange during paternal meiosis. Here we address the molecular basis of this ectopic recombination through the analysis of the X–Y junction in two class 3 XX males. We show that each of the rearrangements has involved X–Y highly homologous loci on the sex–specific part of these chromosomes (98.7% and 96% sequence identity over 1.2 and 1.1 kb respectively). Moreover in five out of six other XX males, the X–Y junctions are located in the same rearranged restriction fragment as in either of these patients. These fragments thus define two hot–spots of ectopic recombination which together could account for about one third of XX males. Evolution of these loci in primates is discussed.
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Weil, D., Wang, I., Dietrich, A. et al. Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness. Nat Genet 7, 414–419 (1994). https://doi.org/10.1038/ng0794-414
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DOI: https://doi.org/10.1038/ng0794-414
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