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Nucleic Acids Research, 1983, Vol. 11, No. 7 2017-2034
© 1983


MOLECULAR BIOLOGY

Isolation and characterization of a major tandem repeat family from the human X chromosome

Huntington F. Willard*,1, Kirby D. Smith2 and Joanne Sutherland1

1Dept. Medical Genetics, Univ. Toronto Toronto, Ontario, Canada, M5S 1A8 2Howard Hughes Medical Institute, Laboratory for Human Biochemical Genetics, Division of Medical Genetics, Dept. Medicine, Johns Hopkins University School of Medicine Baltimore, MD 21205, USA

*To whom reprint request should be sent

Received January 7, 1983. Revised February 28, 1983. Accepted February 28, 1983.

We report the Identification and characterization of a family of repeated restriction fragments whose molecular organization is apparently specific to the human X chromosome. This fragment, identified as an ethidium bromide–staining 2.0 kilobase (kb) band in BamHI–digested DNA from a Chinese hamstser–human somatic cell hybrid containing a human X chromosome, has been cloned into pBR325 and characterized. The 2.0 kb repeated family has been assigned to the Xpll-> Xql2 region on the X by Southern blot analysis of somatic cell hybrids and is predominantly arranged in tandem clusters of up to seven 2.0 kb monomers. Homologous DNA sequence, not organized as 2.0 kb BamHI fragments, are found elsewhere on the X chromosome and on at least some autosomes, but are not found on the Y chromosome. From a dosing experiment using various amounts of the cloned repeat, we estimate that there are 5,000 – 7,500 copies of the 2.0 kb BamHI repeat per haploid genome. Since the vast majority, if not all, of these are confined to the X chromosome, this repeated DNA family must account for 5–10% of all X chromosome DNA and Bust constitute the major sequence component of the pericentromeric region of the X.


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