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Nucleic Acids Research, 1989, Vol. 17, No. 1 423-437
© 1989

MOLECULAR BIOLOGY

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

R.G. Knowlton1,2, C.A. Nelson2, V.A. Brown2, D.C. Page3 and H. Donis-Keller2

1Department of Biochemistry and Molecular Biology, Thomas Jefferson University Philadelphia, PA 19107 2Department of Human Genetics, Collaborative Research, Inc. Bedford, MA 01730 3Whitehead Institute and Department of Biology, Massachusetts Institute of Technology Cambridge, MA 02142, USA

Received June 23, 1988. Revised December 1, 1988. Accepted December 1, 1988.

A genomic DNA clone named CRI-S232 reveals an array of highly polymorphic restriction fragments on the X chromosome as well as a set of non-polymorphic fragments on the Y chromosome. Every individual has multiple bands, highly variable in length, in every restriction enzyme digest tested. One set of bands is found in all males, and co-segregates with the Y chromosome in families. These sequences have been regionally localized by deletion mapping to the long arm of the Y chromosome. Segregation analysis in families shows that all of the remaining fragments co-segregate as a single locus on the X chromosome, each haplotype consisting of three or more polymorphic fragments. This locus (designated DXS278) is linked to several markers on Xp, the closest being dic56 (DXS143) at a distance of 2 cM. Although it is outside the pseudoautosomal region, the S232 X chromosome locus shows linkage to pseudoautosomal markers in female meiosis.

In determining the X chromosome S232 haplotypes of 138 offspring among 19 families, we observed three non-parental haplotypes. Two were recombinant haplotypes, consistent with a cross-over among the S232-hybridizing fragments in maternal meiosis. The third was a mutant haplotype arising on a paternal X chromosome. The locus identified by CRI-S232 may therefore be a recombination and mutation hotspot.


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