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Some stories about evolution. Wen-Ping Hsieh wphsieh@stat.nthu.edu.tw Institute of Statistics National Tsing Hua University Sep. 6, 2012. Outline. Introduction to genetics Genetic polymorphisms Y-chromosome Adam and Mitochondria Eve Human genome diversity.
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Some stories about evolution Wen-Ping Hsieh wphsieh@stat.nthu.edu.tw Institute of Statistics National Tsing Hua University Sep. 6, 2012
Outline • Introduction to genetics • Genetic polymorphisms • Y-chromosome Adam and Mitochondria Eve • Human genome diversity
A Quick Introduction to Genetics • DNA->RNA->Protein • Recombination • Mutation • Polymorphism
Recombination Rate • There are only a few crossover events occurred to each human chromosome in each meiosis. • Recombination rate is higher between two close loci. • Recombination rate is not consistent across chromosomes.
DNA Polymorphisms • Single Nucleotide Polymorphism (SNP) • Microsatellites or Short Tandem Repeats (STR) • Insertion and deletion
Study of Blood Groups • Blood type ABO • Different allele frequency across populations
Classification of Populations • With polymorphisms of ABO, RH and MN blood types, scientists can easily distinguish populations of the five continents. (The study of William Boyd) • When we count in more features, almost all populations can be distinguished. That is, people live in Taipei can be genetically different from people in Taichung if we consider enough numbers of genetic features.
適者生存 or 幸者生存 • Sickle Cell Anemia and Malaria defense • Natural selection • O blood type of native American • Founder's effect • Natural selection: Syphilis epidemics • Neutral genes
Forces of Evolution • Mutation • Selection • Random drift • Migration
Genetic Distances • How different are two individuals? • Difference between parents and children • Difference between grandparents and grandchildren • Difference between any two unrelated persons. • How different are two populations?
Genetic Distance among Five Continents • The genetic distance was calculated from 100 genes for 15 Groups (three groups in each continent).
Phylogeny Tree 亞洲 美洲 歐洲 大洋洲 非洲
Y chromosome and Mitochondria • Y chromosome can be traced to back to one man in Africa.That specific male is called the Scientific Adam. • Both men and women carry mitochondria but only Moms pass it along. Hence, all our mitochondria can be traced to one single woman in Africa and she is called the Scientific Eve. • Both appeared at around 144,000 years ago. • Haplogroups
Recent Viewpoint Meet the Denisovans, indigenous Australia's Siberian kin Source: The Australian
How to Construct Phylogeny Tree • Distance-based • Neighbor-joinning • UPGMA • Maximum parsimony
Evolutionary History of Human • DNAconsists more information than fossils. • The rules of DNA change is a lot more simpler than the metrics measured from fossils.
European Haplogroups of mtDNA West Britain and Scandinavia http://freepages.genealogy.rootsweb.ancestry.com/~jswdna/haplogroupn.gif
European Haplogroups of mtDNA Central and Eastern Europe, France, England
European Haplogroups of mtDNA All around Europe
European Haplogroups of mtDNA Northern Scandinavia, Saami
European Haplogroups of mtDNA Eastern Baltic Sea, Ireland and the west of Britain
European Haplogroups of mtDNA Ötzi the Iceman, Northern Italy, Around the Mediterranean 32% of people with Ashkenazi Jewish ancestry
European Haplogroups of mtDNA Mediterranean, Greece, Italy/Sardinia and Spain Ireland, England-Wales, Scotland
Interactive Trail for the Journey of Mankind http://www.bradshawfoundation.com/journey/
Migration of Austronesian (南島語系) Source: Wiki
Other Side Stories • Y-chromosomal Aaron • Haplogroup J-P58 consist of more than 50% of Kohanim. It infers the most recent common ancestor living around 3200(± 1100) years ago. • Haplogroup J-M410 consist of around 14% of Kohanim. It infers the most recent common ancestor living around 4200(± 1300) years ago. • mtDNA and Y chromosome in Venezuela
Conclusion • 統計是遺傳研究不可或缺的一部份 • 遺傳則是統計研究裡面充滿想像與驚奇的旅程
References • Geni, Popoli e Lingue (追蹤亞當夏娃) by Luigi Luca Cavalli-Sforza (2003) • The journey of man: a genetic odyssey. Spencer Wells. (2002) • The seven daughters of Eve (夏娃的七個女兒). Bryan Sykes. (2001) • National Geographic: The human family tree http://topdocumentaryfilms.com/human-family-tree/