PMID: 8587099Dec 1, 1995Paper

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

Journal of Molecular Evolution
P E Warburton, H F Willard

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. Pair-wise 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...Continue Reading

Citations

Aug 1, 2012·Proceedings of the National Academy of Sciences of the United States of America·Kristin A MaloneyBeth A Sullivan
Dec 14, 2005·Genome Research·M Katharine RuddHuntington F Willard
Jun 8, 2006·Annual Review of Genomics and Human Genetics·Mary G Schueler, Beth A Sullivan
Oct 3, 2007·PLoS Computational Biology·Can AlkanEvan E Eichler
Apr 1, 2014·Genes·Megan E Aldrup-Macdonald, Beth A Sullivan
Apr 8, 2015·Proceedings of the National Academy of Sciences of the United States of America·Shamik PolleyEdward J Hollox
Feb 17, 2017·Genome Biology and Evolution·Brent M RobicheauMarlene Snyder
Apr 14, 2017·Nucleus·Lori L SullivanBeth A Sullivan
Jan 1, 1996·Environmental and Molecular Mutagenesis·B A SullivanH F Willard
Mar 20, 2018·Nature Biotechnology·Miten JainKaren H Miga
May 24, 2001·Molecular Biology and Evolution·A MunteC Segarra
Nov 5, 2019·Scientific Reports·Eleonora CappellettiElena Giulotto
Mar 20, 2019·Genes·Gabrielle Hartley, Rachel J O'Neill
Jul 6, 2018·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Shannon M McNulty, Beth A Sullivan
Dec 15, 2020·Science Advances·Yuta SuzukiShinichi Morishita
Oct 6, 2021·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·Yuta Suzuki, Shinichi Morishita

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