title: A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination.
abstract: Human XX maleness is often due to the presence of Y-specific DNA, resulting from abnormal interchange of terminal parts of the short arms of the X and Y chromosomes. In an XX male, a rearrangement is observed at locus DXYS5, the most proximal Yp locus detected in this patient. Cloning and analysis of the rearranged DNA fragment revealed pseudoautosomal sequences located beyond the breakpoint. We propose that this XX male arose by abnormal crossing over between DXYS5 on the Y chromosome and a pseudoautosomal locus on the X chromosome during paternal meiosis. Sequence analysis of the junction shows that homologous recombination occurred between two Alu sequences from these otherwise nonhomologous regions. The site of recombination is localized to the putative transcription promoter region of the Alu sequences.
authors.affiliation: Unité de Recombinaison et Expression Génétique, INSERM U163, CNRS UA 271, Institut Pasteur, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Rouyer
authors.forename: M C
authors.initials: MC
authors.lastname: Simmler
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
mesh_terms: D002478:Cells, Cultured; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D006801:Humans; D008297:Male; D008540:Meiosis; D011995:Recombination, Genetic; D012729:Sex Chromosome Aberrations; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004262:DNA Restriction Enzymes