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Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence

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Abstract

The cosmid clone, CX16-2D12, was previously localized to the centromeric region of the human X chromosome and shown to lack human X-specific α satellite DNA. A 1.2 kb EcoRI fragment was subcloned from the CX16-2D12 cosmid and was named 2D12/E2. DNA sequencing revealed that this 1,205 bp fragment consisted of approximately five tandemly repeated DNA monomers of 220 bp. DNA sequence homology between the monomers of 2D12/E2 ranged from 72.8% to 78.6%. Interestingly, DNA sequence analysis of the 2D12/E2 clone displayed a change in monomer unit orientation between nucleotide positions 585–586 from a “tail-to-head” arrangement to a “head-to-tail” configuration. This may reflect the existence of at least one inversion within this repetitive DNA array in the centromeric region of the human X chromosome. The DNA consensus sequence derived from a compilation of these 220 bp monomers had approximately 62% DNA sequence similarity to the previously determined γ 8 satellite DNA consensus sequence. Comparison of the 2D12/E2 and γ 8 consensus sequences revealed a 20 bp DNA sequence that was well conserved in both DNA consensus sequences. Slot-blot analysis revealed that this repetitive DNA sequence comprises approximately 0.015% of the human genome, similar to that found with γ 8 satellite DNA. These observations suggest that this satellite DNA clone is derived from a subfamily of γ satellite DNA and is thus designated γ X satellite DNA. When genomic DNA from six unrelated males and two unrelated females was cut with SstI or HpaI and separated by pulsed-field gel electrophoresis, no restriction fragment length polymorphisms were observed for either γ X (2D12/E2) or γ 8 (50E4) probes. Fluorescence in situ hybridization localized the 2D12/E2 clone to the lateral sides of the primary constriction specifically on the human X chromosome.

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Authors and Affiliations

  1. Department of Laboratory medicine and Pathology, University of Alberta and the University of Alberta Hospitals, T6G 2B7, Edmonton, Alberta, Canada

    C. Lee, D. Court & C. C. Lin

  2. Center for Medical Genetics, Department of Pediatrics, Medicine, and Surgery, Johns Hopkins University School of Medicine, 21205, Baltimore, MA, USA

    X. Li & E. W. Jabs

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  1. C. Lee
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  2. X. Li
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  3. E. W. Jabs
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  4. D. Court
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  5. C. C. Lin
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Lee, C., Li, X., Jabs, E.W. et al. Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence. Chromosoma 104, 103–112 (1995). https://doi.org/10.1007/BF00347692

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  • DOI: https://doi.org/10.1007/BF00347692

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