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C:\Documents and Settings\lproctor.ULL\Local Settings\Temporary Internet Files\OLK36\Copyright - thesis.doc Recent Human History: Inferences from the Y-Chromosome and Mitochondrial DNA A thesis submitted for the Degree of Doctor of Philosophy Julia Kirsi Abemethy University College, London. September 2004. 1 UMI Number: U591783 All rights reserved INFORMATION TO ALL USERS The quality of this reproduction is dependent upon the quality of the copy submitted. In the unlikely event that the author did not send a complete manuscript and there are missing pages, these will be noted. Also, if material had to be removed, a note will indicate the deletion. Dissertation Publishing UMI U591783 Published by ProQuest LLC 2013. Copyright in the Dissertation held by the Author. Microform Edition © ProQuest LLC. All rights reserved. This work is protected against unauthorized copying under Title 17, United States Code. ProQuest LLC 789 East Eisenhower Parkway P.O. Box 1346 Ann Arbor, Ml 48106-1346 Abstract Disciplines such as palaeoanthropology, archaeology, anthropology, and history have been instrumental in formulating hypotheses relating to human history. Genetics has developed into a powerful tool for human population analysis hence it can complement information derived from other disciplines. To date, however, such studies of genetic history have predominantly focussed on prehistoric events. The aim of this thesis was to address several questions formulated from written sources and oral tradition relating to the recent history of populations in the British Isles and Africa. Y-chromosome markers and sequence information from the mitochondrial genome were employed. The male gene pool of the British Isles was investigated using a thorough sampling strategy, with respect to the impact of historical invaders, revealing geographic structuring within the Isles as a result of differential contact with these invaders. With these data for Britain available, the fidelity of (British) surname inheritance was investigated using the Y-chromosome, revealing evidence for the random and non-random adoption of surnames. The scope in Britain was narrowed to the small, but assumed diverse, metropolitan district of Greater London, to assess levels of Y-chromosome and mitochondrial DNA diversity in relation to the rest of Britain and Europe. Finally, the maternal history of the Lemba from Africa was investigated; oral tradition and Y-chromosome evidence suggests a Semitic component. The evidence presented here precludes a Jewish maternal heritage, but a Middle Eastern component is possible. This thesis has shown that genetic information can be informative for elucidating the recent history of these populations, therefore confirming the value of including recent events within the scope of genetic history. 2 Table of Contents Title Page................................................................................................... 1 A bstract ...................................................................................................... 2 Table of Contents ...................................................................................... 3 List of Tables ............................................................................................. 7 List of Figures ............................................................................................ 11 Publications Arising from this Thesis ................................................... 13 Declaration ................................................................................................. 14 Acknowledgements ................................................................................... 15 Chapter 1. Introduction ........................................................................... 17 1.1. Genetics and Human History ................................................. 18 1.2. Why Study Recent History?.................................................... 23 1.3. Why Has Genetic History Focussed on Ancient Events? 25 1.4. Is It Possible to Study Recent History?................................. 28 1.5. Issues Associated With Studying Recent Events .................... 32 1.6. A ims o f this Thesis.................................................................. 37 Chapter 2. A Y-chromosome Census of the British Isles ................... 39 2.1. Introduction ............................................................................. 40 2.1.1. The History of Migration to the British Isles 41 2.1.2. The Y-Chromosome - An Overview ..................... 46 2.1.3. The Y-Chromosome - Evidence for Selection?... 55 2.1.4. Y-Chromosome Nomenclature .............................. 56 2.1.5. Y-Chromosome Diversity in the British Isles 59 2.1.6. Aims of this Chapter ............................................... 65 2.2. Materials and Methods .......................................................... 65 2.2.1. Sample Collection ................................................... 65 2.2.2. DNA Extraction ...................................................... 68 2.2.3. Y-Chromosome Genotyping .................................. 68 2.2.4. Data Analysis .......................................................... 71 2.3. Results ..................................................................................... 82 3 2.3.1. The British Isles and European Populations 82 2.3.2. The Channel Islands ................................................ 90 2.4. Discussion ............................................................................... 96 2.4.1. The British Isles and European Populations 97 2.4.2. The Channel Islands ................................................ 101 2.5. Conclusions ............................................................................. 105 Chapter 3. What’s in a Name: How do Surnames and Y- Chromosomes Correlate? ........................................................................ 106 3.1. Introduction ............................................................................. 107 3.1.1. Aims of this Chapter ............................................... I l l 3.2. Materials and Methods .......................................................... I l l 3.2.1. The Study Populations ............................................ I l l 3.2.2. Sample Collection ............................ 113 3.2.3. Y-Chromosome Genotyping .................................. 114 3.2.4. The Geographic Distribution of the Surnames in England, Wales, and Scotland ................................ 116 3.2.5. Geographic Neighbours and the Comparison Dataset....................................................................... 117 3.2.6. Data Analysis ........................................................... 117 3.3. Results ..................................................................................... 123 3.3.1. Spelling Variants ..................................................... 123 3.3.2. Surname Population Structure ............................... 124 3.3.3. Multiple or Single Origins and the Extent of Introgression ............................................................. 128 3.4. Discussion ............................................................................... 129 3.5. Conclusions ............................................................................. 140 Chapter 4. Y-Chromosome and mtDNA Diversity in Present Day Inhabitants of London ............................................................................. 142 4.1. Introduction .......................................................................... 143 4.1.1. A Brief History of London ...................................... 143 4.1.2. mtDNA - An Overview .........................................