Some stories about evolution WenPing Hsieh wphsiehstat nthu

Some stories about evolution Wen-Ping Hsieh wphsieh@stat. nthu. edu. tw Institute of Statistics National Tsing Hua University Sep. 6, 2012 1

Outline • • Introduction to genetics Genetic polymorphisms Y-chromosome Adam and Mitochondria Eve Human genome diversity 2

A Quick Introduction to Genetics • • DNA->RNA->Protein Recombination Mutation Polymorphism 3

Source: Wikipedia 4

http: //www. accessexcellence. org/RC/VL/GG/central. php 5

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. 6

DNA Polymorphisms • Single Nucleotide Polymorphism (SNP) • Microsatellites or Short Tandem Repeats (STR) • Insertion and deletion 7

Fossil Evidence of Human Evolution 8

Study of Blood Groups • Blood type ABO • Different allele frequency across populations Region A B O Europe 27 8 65 British 25 8 67 Italian 20 7 73 Basques 23 2 75 East Asian 20 19 61 African 18 13 69 Indigenous American 1. 7 0. 3 98 Indigenous Australian 22 2 76 9

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. 10

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 11

Forces of Evolution • • Mutation Selection Random drift Migration 12

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? 13

Genetic Distance among Five Continents • The genetic distance was calculated from 100 genes for 15 Groups (three groups in each continent). 非洲 大洋洲 美洲 大洋洲 24. 7 美洲 22. 6 14. 6 歐洲 16. 6 13. 5 9. 5 亞洲 20. 6 10. 0 8. 7 歐洲 9. 7 14

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 16

Recent Viewpoint Meet the Denisovans, indigenous Australia's Siberian kin Source: The Australian 17

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How to Construct Phylogeny Tree • Distance-based – Neighbor-joinning – UPGMA • Maximum parsimony 19

Evolutionary History of Human • DNA consists more information than fossils. • The rules of DNA change is a lot more simpler than the metrics measured from fossils. 20

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European Haplogroups of mt. DNA West Britain and Scandinavia http: //freepages. genealogy. rootsweb. ancestry. com/~jswdna/haplogroupn. gif 22

European Haplogroups of mt. DNA Central and Eastern Europe, France, England 23

European Haplogroups of mt. DNA All around Europe 24

European Haplogroups of mt. DNA Northern Scandinavia, Saami 25

European Haplogroups of mt. DNA Eastern Baltic Sea, Ireland the west of Britain 26

European Haplogroups of mt. DNA Ötzi the Iceman, Northern Italy, Around the Mediterranean 32% of people with Ashkenazi Jewish ancestry 27

European Haplogroups of mt. DNA Mediterranean, Greece, Italy/Sardinia and Spain Ireland, England-Wales, Scotland 28

The Genographic Project 29

Interactive Trail for the Journey of Mankind http: //www. bradshawfoundation. com/journey/ 30

Migration of Austronesian (南島語系) Source: Wiki 31

Inference with Y chromosome 32

Other Side Stories • Y-chromosomal Aaron – Haplogroup J-P 58 consist of more than 50% of Kohanim. It infers the most recent common ancestor living around 3200(± 1100) years ago. – Haplogroup J-M 410 consist of around 14% of Kohanim. It infers the most recent common ancestor living around 4200(± 1300) years ago. • mt. DNA and Y chromosome in Venezuela 33

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/humanfamily-tree/ 35