Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/30320
Title: Mutation and variability of the human Y chromosome
Authors: Hurles, Matthew.
Award date: 1999
Presented at: University of Leicester
Abstract: The human Y chromosome is inherited from father to son, determining maleness. As a result of its being haploid the vast majority of the Y chromosome does not undergo recombination at meiosis. Consequently polymorphisms on this non-recombining portion represent a simple record of male evolutionary history. It is important to distinguish between polymorphisms that have only arisen once during human evolution and those faster mutating markers, such as microsatellites and minisatellites, that are recurrent. Unique biallelic markers can be used to define monphyletic lineages and recurrent markers used to assay diversity within them. Improving the resolution of Y-chromosomal evolutionary studies is contingent upon discovering more biallelic markers. To this end, a recently-developed high-throughput mutation detection technique is used to screen Y-specific sequences for single nucleotide polymorphisms, resulting in the discovery of a new, African-specific, polymorphism. The utility of adopting a genealogical approach to analysing the different types of Y-chromosomal polymorphic information is investigated. Two population-specific lineages are investigated in depth, requiring the development of new analytical methodologies. Investigating the genetic landscape of a region requires the assaying of multiple lineages in many populations. Local heterogeneities, specifically significant barriers to gene flow, within this genetic landscape can be defined and compared to the geographical and cultural landscapes of the same region. Such an analysis of European -Y-chromosomal diversity reveals that genetic barriers to male gene-flow are well correlated with linguistic boundaries. Ever since the discovery that isolated islands in the Pacific Ocean were already densely populated by Polynesians, this region of the world has intrigued anthropologists of all persuasions. An analysis of Y-chromosomal diversity in Southeast Asia and Oceania reveals that the present informative capacity of the human Y chromosome is sufficient to contribute meaningfully to many of the contentious issues debated heatedly amongst Pacific prehistorians.
Links: http://hdl.handle.net/2381/30320
Type: Thesis
Level: Doctoral
Qualification: PhD
Rights: Copyright © the author. All rights reserved.
Appears in Collections:Theses, Dept. of Genetics
Leicester Theses

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