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Mitochondrial Haplogroup Background May Influence
Genetics Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy Supannee Kaewsutthi,1,2 Nopasak Phasukkijwatana,2,3 Yutthana Joyjinda,1 Wanicha Chuenkongkaew,3,4 Bussaraporn Kunhapan,1 Aung Win Tun,1 Bhoom Suktitipat,1 and Patcharee Lertrit1,4 PURPOSE. To investigate the role of mitochondrial DNA markedly incomplete penetrance. The three most common (mt DNA) background on the expression of Leber hereditary primary LHON mutations, G3460A in ND1, G11778A in ND4, optic neuropathy (LHON) in Southeast Asian carriers of the and T14484C in ND6, account for more than 90% of LHON G11778A mutation. cases worldwide2 with G11778A being the most common. In 3 4–6 METHODS. Complete mtDNA sequences were analyzed from 53 Thailand and other Asian countries, G11778A is responsi- unrelated Southeast Asian G11778A LHON pedigrees in Thai- ble for approximately 90% of LHON families. land and 105 normal Thai controls, and mtDNA haplogroups The sex bias and the marked incomplete penetrance of were determined. Clinical phenotypes were tested for associ- LHON indicate that there must be other factors that modify disease expression. Mitochondrial background,7–8 nuclear ation with mtDNA haplogroup, with adjustment for potential 9–11 12 confounders such as sex and age at onset. background, and environmental factors have been impli- cated in disease expression, although the precise mechanisms RESULTS. mtDNA subhaplogroup B was significantly associated of pathogenesis are largely undefined. with LHON. Follow-up analysis -
Ancient Mitochondrial DNA from Pre-Historic
Grand Valley State University ScholarWorks@GVSU Masters Theses Graduate Research and Creative Practice 4-30-2011 Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt Jeremy R. Newton Grand Valley State University Follow this and additional works at: http://scholarworks.gvsu.edu/theses Part of the Cell Biology Commons, and the Molecular Biology Commons Recommended Citation Newton, Jeremy R., "Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt" (2011). Masters Theses. 5. http://scholarworks.gvsu.edu/theses/5 This Thesis is brought to you for free and open access by the Graduate Research and Creative Practice at ScholarWorks@GVSU. It has been accepted for inclusion in Masters Theses by an authorized administrator of ScholarWorks@GVSU. For more information, please contact [email protected]. ANCIENT MITOCHONDRIAL DNA FROM PRE-HISTORIC SOUTH- EASTERN EUROPE: THE PRESENCE OF EAST EURASIAN HAPLOGROUPS PROVIDES EVIDENCE OF INTERACTIONS WITH SOUTH SIBERIANS ACROSS THE CENTRAL ASIAN STEPPE BELT A thesis submittal in partial fulfillment of the requirements for the degree of Master of Science By Jeremy R. Newton To Cell and Molecular Biology Department Grand Valley State University Allendale, MI April, 2011 “Not all those who wander are lost.” J.R.R. Tolkien iii ACKNOWLEDGEMENTS I would like to extend my sincerest thanks to every person who has motivated, directed, and encouraged me throughout this thesis project. I especially thank my graduate advisor, Dr. -
Y-Chromosome & Mitochondrial DNA Variation
The Genetic Structure of the Kuwaiti and Failaka Island Populations: Y-chromosome & Mitochondrial DNA Variation By Jasem Bader Theyab M.A., University of Kansas, 2010 Copyright 2013 Submitted to the graduate degree program in Anthropology and the Graduate Faculty of the University of Kansas in partial fulfillment of the requirements for the degree of Doctor of Philosophy. ________________________________ Chairperson, Dr. Michael H. Crawford ________________________________ Dr. Majid Hannoum ________________________________ Dr. Deborah Smith ________________________________ Dr. Bartholomew C. Dean ________________________________ Dr. John Kelly Date Defended: May 28, 2013 The Dissertation Committee for Jasem Bader Theyab certifies that this is the approved version of the following dissertation: The Genetic Structure of the Kuwaiti and Failaka Island Populations: Y-chromosome & Mitochondrial DNA Variation ________________________________ Chairperson, Dr. Michael H. Crawford Date approved: May 31, 2013 ii Abstract Recent studies applying multidisciplinary approaches suggest that the Anatomically Modern Homo sapiens (AMHS) passed through the Arabian Peninsula in their major diaspora out of Africa. The Arabian Peninsula is connected to three continents: Africa, Asia, and Europe. In addition to the major diaspora, the Arabian Peninsula has witnessed numerous migrations among the three continents. The populations of the Arabian Peninsula have been investigated to better understand their evolutionary history. This dissertation investigated the paternal genetic structure of the Kuwaiti and Failaka Island populations using 15 loci Y-STR data. In addition, the maternal genetic structure of Failaka Island has been investigated using mtDNA HVS-I sequence data. This is the first genetic study to characterize Failaka Island population. The result showed that the Kuwaiti population has a high frequency of Y- haplogroup J1 (37%) similar to other Arabian populations. -
Genetics, Linguistics, and Prehistoric Migrations: an Analysis of California Indian Mitochondrial DNA Lineages
Journal of California and Great Basin Anttiropology | Vol, 26, No, 1 (2006) | pp 33-64 Genetics, Linguistics, and Prehistoric Migrations: An Analysis of California Indian Mitochondrial DNA Lineages JOHN R. JOHNSON Department of Anthropology, Santa Barbara Museum of Natural History 2559 Puesta del Sol, Santa Barbara, CA 93105 JOSEPH G. LORENZ Laboratory of Molecular Biology, Coriell Institute for Medical Research 403 Haddon Avenue, Camden, NJ 08103 The advent of mitochondrial DNA analysis makes possible the study of past migrations among California Indians through the study of genetic similarities and differences. Four scenarios of language change correlate with observable genetic patterns: (1) initial colonization followed by gradual changes due to isolation; (2) population replacement; (3) elite dominance; and (4) intermarriage between adjacent groups. A total of 126 mtDNA samples were provided by contemporary California Indian descendants whose maternal lineages were traced back to original eighteenth and nineteenth century sociolinguistic groups using mission records and other ethnohistoric sources. In particular, those groups belonging to three language families (Chumashan, Uto-Aztecan, and Yokutsan) encompassed enough samples to make meaningful comparisons. The four predominant mtDNA haplogroups found among American Indians (A, B, C, and D) were distributed differently among populations belonging to these language families in California. Examination of the distribution of particular haplotypes within each haplogroup further elucidated the separate population histories of these three language families. The expansions of Yokutsan and Uto-Aztecan groups into their respective homelands are evident in the structure of genetic relationships within haplogroup diagrams. The ancient presence of Chumashan peoples in the Santa Barbara Channel region can be inferred from the presence of a number of haplotypes arrayed along a chain-like branch derived from the founding haplotype within Haplogroup A. -
Matrilineal and Patrilineal Genetic Continuity of Two Iron Age Individuals from a Pazyryk Culture Burial
© Kamla-Raj 2019 Int J Hum Genet, 19(1): 29-47 (2019) PRINT: ISSN 0972-3757 ONLINE: ISSN 2456-6330 DOI: 10.31901/24566330.2019/19.01.709 Matrilineal and Patrilineal Genetic Continuity of Two Iron Age Individuals from a Pazyryk Culture Burial Dmitrii G. Tikhonov1, Cemal Gurkan2, 3,*, Gokce Y. A. Peler4 and Victor M. Dyakonov5 1Scientific Research Institute of Health, North-Eastern Federal University, Yakutsk, Sakha Republic, Russian Federation 2Turkish Cypriot DNA Laboratory, Committee on Missing Persons in Cyprus Turkish Cypriot Member Office, Nicosia (North Cyprus), Turkey 3Dr. Fazil Kucuk Faculty of Medicine, Eastern Mediterranean University, Famagusta, (North Cyprus), Turkey 4Department of Contemporary Turkic Languages and Literatures, Erciyes University, Kayseri, Turkey 5Archaeology Department, Institute for Humanitarian Research and Problems of Indigenous People of the North, Siberian Branch of the Russian Academy of Sciences, Yakutsk, Sakha Republic, Russian Federation KEYWORDS Ak-Alakha. Ancient DNA. Scythian. Saka. Turkic ABSTRACT In this study, geographic and linguistic distributions of contemporary and ancient matches with the paternal and maternal lineages of two individuals exhumed from the exemplary Pazyryk culture burial site of Ak- Alakha-1 mound 1 were investigated. Using the shared paternal and maternal haplotypes observed in both ancient individuals, extensive database and literature searches were conducted revealing numerous full matches among contemporary Eurasians, majority of whom speak Altaic Languages. Despite the current focus on the two Pazyryk individuals, a rare glimpse into the ancient migrations was gained through the discovery of paternal and maternal haplotype matches across an immense geography that spans from Yakutia to Turkey. In addition to a vast array of archaeological findings in such Scythian “frozen graves” across Central Asia, accumulating archaeogenetic data are expected to shed light on the anthropology of these otherwise mysterious people. -
Phylogenetic Resolution with Mtdna D-Loop Vs. HVS 1: Methodological Approaches in Anthropological Genetics Utilizing Four Siberian Populations
Phylogenetic Resolution with mtDNA D-loop vs. HVS 1: Methodological Approaches in Anthropological Genetics Utilizing Four Siberian Populations By Stephen M Johnson Submitted to the graduate degree program in Anthropology and the Graduate Faculty of the University of Kansas in partial fulfillment of the requirements for the degree of Master of Arts. ________________________________ Chairperson: Michael H Crawford, PhD ________________________________ Bartholomew Dean, PhD ________________________________ James H Mielke, PhD Date Defended: 5 July 2013 The Thesis Committee for Stephen M Johnson certifies that this is the approved version of the following thesis: Phylogenetic Resolution with mtDNA D-loop vs. HVS 1: Methodological Approaches in Anthropological Genetics Utilizing Four Siberian Populations ________________________________ Chairperson: Dr. Michael H Crawford, PhD Date approved: 5 July 2013 ii ABSTRACT Mitochondrial DNA is a useful genetic marker for answering evolutionary questions due to its high copy number, maternal mode of inheritance, and its high rate of evolution (Stoneking and Soodyall, 1996). The vast majority of research on mitochondrial DNA in anthropological studies has utilized the hypervariable segment 1 (HVS 1) to reconstruct population history and structure, explore population ancestry, construct phylogenies, and answer questions about the origins of prehistoric populations. A common debate in this field is whether better phylogenetic resolution can be obtained by the use of additional sequence data or genomic -
The Genetic Structure of Chinese Hui Ethnic Group Revealed by Complete Mitochondrial Genome Analyses Using Massively Parallel Sequencing
G C A T T A C G G C A T genes Article The Genetic Structure of Chinese Hui Ethnic Group Revealed by Complete Mitochondrial Genome Analyses Using Massively Parallel Sequencing Chong Chen 1,2,3, Yuchun Li 4, Ruiyang Tao 2,5, Xiaoye Jin 1, Yuxin Guo 1, Wei Cui 3 , Anqi Chen 2,6, Yue Yang 2,7, Xingru Zhang 1, Jingyi Zhang 2, Chengtao Li 2,3,5,6,7,* and Bofeng Zhu 1,3,8,* 1 Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi’an Jiaotong University, Xi’an 710004, China; [email protected] (C.C.); [email protected] (X.J.); [email protected] (Y.G.); [email protected] (X.Z.) 2 Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Ministry of Justice, Shanghai 200063, China; [email protected] (R.T.); [email protected] (A.C.); [email protected] (Y.Y.); [email protected] (J.Z.) 3 Multi-Omics Innovative Research Center of Forensic Identification, Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; [email protected] 4 State Key Laboratory of Genetic Resources and Evolution/Key Laboratory of Healthy Aging Research of Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China; [email protected] 5 Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610017, China 6 Department of Forensic -