Nucleic Acids Research, 1985, Vol. 13, No. 8 2731-2743
© 1985
Articles |
Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome
Department of Medical Genetics, University of Toronto Toronto, Ontario, M5S 1A8, Canada
*To whom correspondence should be addressed
Received February 8, 1985. Accepted March 29, 1985.
The pericentromeric region of the human X chromosome is characterized by a tandemly repeated family of 2.0 kilobasepair (kb) DNA fragments, initially revealed by cleavage of human DNA with the restriction enzyme BamHI. We report here the complete nucleotide sequence of a cloned member of the repeat family and establish that this X-linked DNA family consists entirely of 
satellite DNA. Our data indicate that the 2.0 kb repeat consists of twelve satellite monomers arranged in imperfect, direct repeats. Each of the X monomers is approximately 171 basepairs (bp) in length and is 60–75% identical in sequence to previously described primate a satellite DNAs. The twelve X monomers are 65–85% identical in sequence to each other and are organized as two adjacent, related blocks of five monomers, plus an additional two monomers also related to monomers within the pentamer blocks. Partial nucleotide sequence of a second, independent copy of the 2.0 kb BamHI fragment established that the 2.0 kb repeat is, in fact, the unit of amplification on the X. Comparison of the sequences of the twelve X monomers allowed derivation of a 171 bp consensus sequence for a satellite DNA on the human X chromosome. These sequence data, combined with the results of filter hybridization experiments of total human DNA and X chromosome DNA, using subregions within the 2.0 kb repeat as probes, provide strong support for the hypothesis that individual human chromosomes are characterized by different satellite families, defined both by restriction enzyme periodicity and by chromosome-specific primary sequence.
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