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

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

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

4. 4 Source: Wikipedia

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

6. 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

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

8. Fossil Evidence of Human Evolution 8

9. Study of Blood Groups Blood type ABO Different allele frequency across populations RegionABO Europe27865 British25867 Italian20773 Basques23275 East Asian201961 African181369 Indigenous American 1.70.398 Indigenous Australian 22276 9

10. 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

11. 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

12. Forces of Evolution Mutation Selection Random drift Migration 12

13. 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

14. Genetic Distance among Five Continents The genetic distance was calculated from 100 genes for 15 Groups (three groups in each continent). 非洲大洋洲美洲歐洲 大洋洲 24.7 美洲 22.614.6 歐洲 16.613.59.5 亞洲 20.610.08.79.7 14

15. Phylogeny Tree 亞洲 美洲 歐洲 大洋洲 非洲 15

16. 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

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

18. 18

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

20. 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

21. 21

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

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

24. European Haplogroups of mtDNA 24 All around Europe

25. European Haplogroups of mtDNA 25 Northern Scandinavia, Saami

26. European Haplogroups of mtDNA 26 Eastern Baltic Sea, Ireland and the west of Britain

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

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

29. The Genographic Project 29

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

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

32. Inference with Y chromosome 32

33. 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 33

34. 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 34

35. 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/ 35