Abstract
THE mammalian sex chromosomes are composed of two genetically distinct segments: the pseudoautosomal region, where recombination occurs between the X and Y chromosomes, and the sex chromosome-specific parts1,2. Between these two segments the human sex chromosomes differ by the insertion of an Alu element on the Y chromosome3. We have surveyed the sequence variation in the boundary region using the polymerase chain reaction. Fifty seven Y and sixty X chromosomes from ten different human populations were analysed. The X chromosomes were found to be polymorphic at five positions in a 300-base-pair region. By contrast, all Y chromosomes were identical except for one distal polymorphism shared with the X chromosome.
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Ellis, N., Taylor, A., Bengtsson, B. et al. Population structure of the human pseudoautosomal boundary. Nature 344, 663–665 (1990). https://doi.org/10.1038/344663a0
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DOI: https://doi.org/10.1038/344663a0
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