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Interhomologue sequence variation of alpha satellite DNA from human chromosome 17: Evidence for concerted evolution along haplotypic lineages

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Abstract

Alpha satellite DNA is a family of tandemly repeated DNA found at the centromeres of all primate chromosomes. Different human chromosomes 17 in the population are characterized by distinct alpha satellite haplotypes, distinguished by the presence of variant repeat forms that have precise monomeric deletions. Pairwise comparisons of sequence diversity between variant repeat units from each haplotype show that they are closely related in sequence. Direct sequencing of PCR-amplified alpha satellite reveals heterogeneous positions between the repeat units on a chromosome as two bands at the same position on a sequencing ladder. No variation was detected in the sequence and location of these heterogeneous positions between chromosomes 17 from the same haplotype, but distinct patterns of variation were detected between chromosomes from different haplotypes. Subsequent sequence analysis of individual repeats from each haplotype confirmed the presence of extensive haplotype-specific sequence variation. Phylogenetic inference yielded a tree that suggests these chromosome 17 repeat units evolve principally along haplotypic lineages. These studies allow insight into the relative rates and/or timing of genetic turnover processes that lead to the homogenization of tandem DNA families.

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Authors and Affiliations

  1. Department of Genetics, Stanford University, 94305, Stanford, CA, USA

    Peter E. Warburton

  2. Department of Molecular and Medical Genetics, University of Toronto, M5S 1A8, Toronto, Ontario, Canada

    Peter E. Warburton

  3. Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, 44106, Cleveland, OH, USA

    Huntington F. Willard

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  1. Peter E. Warburton
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  2. Huntington F. Willard
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Correspondence to: H.F. Willard

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Warburton, P.E., Willard, H.F. Interhomologue sequence variation of alpha satellite DNA from human chromosome 17: Evidence for concerted evolution along haplotypic lineages. J Mol Evol 41, 1006–1015 (1995). https://doi.org/10.1007/BF00173182

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  • DOI: https://doi.org/10.1007/BF00173182

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