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Science 11 December 1992:
Vol. 258. no. 5089, pp. 1784 - 1787
DOI: 10.1126/science.1465614
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Articles
Science, Vol 258, Issue 5089, 1784-1787
Copyright © 1992 by American Association for the Advancement of Science
Identification of a second pseudoautosomal region near the Xq and Yq telomeres
D Freije,
C Helms,
MS Watson,
and
H Donis-Keller
Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110.
The telomeres of Xq and Yq have been observed to associate during meiosis, and in rare cases a short synaptonemal complex is present. Molecular cloning of loci from Xqter and Yqter has revealed that their sequence homology extends over 400 kilobases, which suggests the possibility of genetic exchange. This hypothesis was tested by the development of two highly informative microsatellite markers from yeast artificial chromosome clones that carried Xqter sequences and the following of their inheritance in a set of reference pedigrees from the Centre d'Etude du Polymorphisme Humain in Paris, France. From a total of 195 informative male meioses, four recombination events between these loci were observed. In three cases, paternal X alleles were inherited by male offspring, and in one case a female offspring inherited her father's Y allele. These data support the existence of genetic exchange at Xq-Yq, which defines a second pseudoautosomal region between the sex chromosomes.
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