title: Population structure of the human pseudoautosomal boundary.
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 parts. Between these two segments the human sex chromosomes differ by the insertion of an Alu element on the Y chromosome. 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.
authors.affiliation: Imperial Cancer Research Fund, Lincoln's Inn Fields, London, UK.
authors.forename: N
authors.initials: N
authors.lastname: Ellis
authors.forename: A
authors.initials: A
authors.lastname: Taylor
authors.forename: B O
authors.initials: BO
authors.lastname: Bengtsson
authors.forename: J
authors.initials: J
authors.lastname: Kidd
authors.forename: J
authors.initials: J
authors.lastname: Rogers
authors.forename: P
authors.initials: P
authors.lastname: Goodfellow
mesh_terms: D001483:Base Sequence; D005075:Biological Evolution; D004247:DNA / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004247:DNA