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Talk: Historical and Geographical Genetic Variation: Europe (37 min)

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X Navigable Slide Index
  1. Introduction
  2. Two major questions
  3. Genetic tools
  4. Advantage of uniparental markers
  5. Limitations of uniparental genetic systems
  6. Who are the ancestors of modern Europeans?
  7. Neanderthals are not our ancestors
  8. Homo neanderthalensis
  9. Location of Neanderthal remains
  10. Homo neanderthalensis: questions
  11. Human mitochondrial DNA (mtDNA)
  12. Human mtDNA genome
  13. Skeletal remains first analyzed for mtDNA variation
  14. Neanderthal mtDNA and modern mtDNA
  15. The recent African genesis of humans
  16. Origin of modern humans
  17. When did modern humans arrive in Europe?
  18. Homo sapiens paleoanthropological data
  19. Dispersal of modern humans in Eurasia
  20. What about the genetic evidence?
  21. mtDNA genetics
  22. Maternal inheritance and lack of recombination
  23. What is a mtDNA haplogroup?
  24. The mtDNA process of molecular differentiation
  25. Molecular approach to determine mtDNA variation
  26. Worldwide mtDNA phylogeny
  27. Out of Africa dispersal
  28. Paleoenvironmental evidence
  29. Temperature change over the last 150 ky (1)
  30. Out of Africa and back again?
  31. Spatial frequency map of M1
  32. Spatial frequency map of U6
  33. Levantine early upper paleolithic in Africa
  34. Phylogeny of M1
  35. Phylogeny of U6
  36. Conclusions about M1 and U6
  37. Overall scenario - migration to Africa and Europe
  38. What is U5?
  39. Haplogroup U in the worldwide mtDNA phylogeny
  40. The numerous clade within haplogroup U
  41. What occurred within Europe while U5 arrived?
  42. "Classical" genetic markers
  43. Principal component analysis (PCA)
  44. First PC
  45. Second PC
  46. Third PC
  47. mtDNA data: alternative explanation in the 2nd PC
  48. PCA of mtDNA haplogroup profiles
  49. Haplogroup H in the worldwide mtDNA phylogeny
  50. Glacial refuge - source for the European gene pool
  51. Phylogeny of H
  52. Spatial frequency maps
  53. Spatial frequency map of V
  54. Haplogroup V in the worldwide mtDNA phylogeny
  55. Coalescence ages of H1, H3 and V
  56. Temperature change over the last 150 ky (2)
  57. Conclusion about Franco-Cantabrian refuge area
  58. mtDNA reveals unexpected population links
  59. Phylogeny of U
  60. Subhaplogroup U5b1b
  61. Current location of populations harboring U5b1b
  62. Saami
  63. Berbers
  64. Population distribution of U5b1b
  65. Conclusion about U5b1b
  66. Major role played by glacier refuge areas at LGM
  67. Y-chromosome haplogroups in Europe
  68. Refuge for Y-chromosome haplogroups
  69. Ancient DNA from the first European farmers
  70. N1a in the worldwide mtDNA phylogeny
  71. Results leading to a dead end
  72. More recent events of gene flow in Europe
  73. The Etruscans: a paradigmatic example
  74. The Etruscan culture and language
  75. No evidence that Etruscan gene pool has vanished
  76. Partially retained ancestral gene pool in Tuscany
  77. Tuscan populations
  78. Technical approach
  79. MtDNA tree of modern Tuscans
  80. Power of mtDNA in discriminating populations
  81. Placement of Murlo
  82. Mitochondrial haplogroups spatial frequency maps
  83. Haplotypes shared with Near Eastern populations
  84. In brief...
  85. Conclusion about Etruscan
  86. Microgeographic data: origin of Sardinians
  87. Phylogeny of M2
  88. Major implication
  89. Summary
  90. END
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DETAILED SLIDE INDEX

  1. 1. Introduction
  2. 2. Two major questions
  3. 3. Genetic tools
  4. 4. Advantage of uniparental markers
  5. 5. Limitations of uniparental genetic systems
  6. 6. Who are the ancestors of modern Europeans?
  7. 7. Neanderthals are not our ancestors
  8. 8. Homo neanderthalensis
  9. 9. Location of Neanderthal remains
  10. 10. Homo neanderthalensis: questions
  11. 11. Human mitochondrial DNA (mtDNA)
  12. 12. Human mtDNA genome
  13. 13. Skeletal remains first analyzed for mtDNA variation
  14. 14. Neanderthal mtDNA and modern mtDNA
  15. 15. The recent African genesis of humans
  16. 16. Origin of modern humans
  17. 17. When did modern humans arrive in Europe?
  18. 18. Homo sapiens paleoanthropological data
  19. 19. Dispersal of modern humans in Eurasia
  20. 20. What about the genetic evidence?
  21. 21. mtDNA genetics
  22. 22. Maternal inheritance and lack of recombination
  23. 23. What is a mtDNA haplogroup?
  24. 24. The mtDNA process of molecular differentiation
  25. 25. Molecular approach to determine mtDNA variation
  26. 26. Worldwide mtDNA phylogeny
  27. 27. Out of Africa dispersal
  28. 28. Paleoenvironmental evidence
  29. 29. Temperature change over the last 150 ky (1)
  30. 30. Out of Africa and back again?
  31. 31. Spatial frequency map of M1
  32. 32. Spatial frequency map of U6
  33. 33. Levantine early upper paleolithic in Africa
  34. 34. Phylogeny of M1
  35. 35. Phylogeny of U6
  36. 36. Conclusions about M1 and U6
  37. 37. Overall scenario - migration to Africa and Europe
  38. 38. What is U5?
  39. 39. Haplogroup U in the worldwide mtDNA phylogeny
  40. 40. The numerous clade within haplogroup U
  41. 41. What occurred within Europe while U5 arrived?
  42. 42. "Classical" genetic markers
  43. 43. Principal component analysis (PCA)
  44. 44. First PC
  45. 45. Second PC
  46. 46. Third PC
  47. 47. mtDNA data: alternative explanation in the 2nd PC
  48. 48. PCA of mtDNA haplogroup profiles
  49. 49. Haplogroup H in the worldwide mtDNA phylogeny
  50. 50. Glacial refuge - source for the European gene pool
  51. 51. Phylogeny of H
  52. 52. Spatial frequency maps
  53. 53. Spatial frequency map of V
  54. 54. Haplogroup V in the worldwide mtDNA phylogeny
  55. 55. Coalescence ages of H1, H3 and V
  56. 56. Temperature change over the last 150 ky (2)
  57. 57. Conclusion about Franco-Cantabrian refuge area
  58. 58. mtDNA reveals unexpected population links
  59. 59. Phylogeny of U
  60. 60. Subhaplogroup U5b1b
  61. 61. Current location of populations harboring U5b1b
  62. 62. Saami
  63. 63. Berbers
  64. 64. Population distribution of U5b1b
  65. 65. Conclusion about U5b1b
  66. 66. Major role played by glacier refuge areas at LGM
  67. 67. Y-chromosome haplogroups in Europe
  68. 68. Refuge for Y-chromosome haplogroups
  69. 69. Ancient DNA from the first European farmers
  70. 70. N1a in the worldwide mtDNA phylogeny
  71. 71. Results leading to a dead end
  72. 72. More recent events of gene flow in Europe
  73. 73. The Etruscans: a paradigmatic example
  74. 74. The Etruscan culture and language
  75. 75. No evidence that Etruscan gene pool has vanished
  76. 76. Partially retained ancestral gene pool in Tuscany
  77. 77. Tuscan populations
  78. 78. Technical approach
  79. 79. MtDNA tree of modern Tuscans
  80. 80. Power of mtDNA in discriminating populations
  81. 81. Placement of Murlo
  82. 82. Mitochondrial haplogroups spatial frequency maps
  83. 83. Haplotypes shared with Near Eastern populations
  84. 84. In brief...
  85. 85. Conclusion about Etruscan
  86. 86. Microgeographic data: origin of Sardinians
  87. 87. Phylogeny of M2
  88. 88. Major implication
  89. 89. Summary
  90. 90. END

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TALK'S CITATION

Torroni, A. (2007), "Historical and Geographical Genetic Variation: Europe", in Cavalli-Sforza, L.L. and Feldman, M. (eds), Human Population Genetics: Evolution and Variation , The Biomedical & Life Sciences Collection, Henry Stewart Talks Ltd, London (online at http://hstalks.com/?t=BL0251536)

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ABOUT THIS TALK

Speaker(s)

Prof. Antonio Torroni Show Biography

SPEAKER BIOGRAPHY

Prof. Antonio Torroni – Pavia University, Italy

Antonio Torroni is Professor of Genetics and Director of the PhD program in Life Science at the University of Pavia, Italy. After his undergraduate (1984, Rome University "La Sapienza") and graduate (1988, Pavia University) studies, he was Assistant Professor at Emory University School of Medicine, Atlanta (1990-1994) and Rome University "La Sapienza" (1994-1998) and Associate Professor at the University of Urbino (1998-2000). The focus of his research activity is genetic variation (in particular mitochondrial DNA) in human populations and he is author of over 120 publications on the topic.

Publication Date

October, 2007

Topics Covered

Origin of modern Europeans... more

TOPICS COVERED IN THIS TALK

  • Origin of modern Europeans
  • Genetic tools
  • Neanderthal vs. modern humans
  • Complete mitochondrial DNA sequences: new data on the early events after the Out of Africa exit
  • Paleolithic vs. Neolithic origin of the European gene pool
  • Expansions from glacial refugia after the Last Glacial Maximum
  • Unexpected genetic links between modern populations: the case of the Saami and Berbers
  • Population studies at the microgeographic level: the paradigmatic case of the Etruscans

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  • Microsatellites
  • Graphic presentation of evolution data by principal components analysis
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TOPICS COVERED IN THIS TALK

  • Genetic markers inherited from a single parent
  • Mutational history of the Y chromosome (NRY)
  • Genealogies of Y chromosome and mitochondria
  • Of Adam and Eve
  • Primates and Homo sapiens
  • Neanderthal and the spread of modern humans from East Africa
  • The spread of modern humans according to Y chromosome
  • Areas of origin of agriculture and animal breeding
  • Spread of cultivated wheat to Europe in the Neolithic period
  • Geographic maps of the first three principal components of Europe
  • Coevolution and hitchhiking of commensals: Helicobacter pylori
  • Coevolution of humans and cattle
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4. History and Geography of Human Genetic Diversity III More info
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TOPICS COVERED IN THIS TALK

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Play '17. Evolution: how Genes and their Variation got here'
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TOPICS COVERED IN THIS TALK

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  • Allelic variation in human gene expression
  • Ancestral susceptibility models
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TOPICS COVERED IN THIS TALK

  • General cancer genetics
  • Tumor suppressor and oncogenes
  • Knudson's 'two hit' hypothesis
  • Genetic predisposition to breast and ovarian cancer
  • How much breast and ovarian cancer is inherited and the causes (genes responsible)
  • Cancer risk in populations
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  • Mutation detection
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Prof. Sir Walter Bodmer

TOPICS COVERED IN THIS TALK

  • Cancer: a somatic evolutionary process
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  • Selection for mutations in the APC "mutation cluster region"
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  • Mutated genes in colorectal cancer include p53 and wnt pathway, occur in adenoma to carcinoma sequence
  • Arguments for and against need for genomic instability in cancers
  • Epigenetic changes
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  • Types of familial cancers: mostly rarer than FAP and HNPCC
  • Approaches to studying multifactorial inherited susceptibility
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TOPICS COVERED IN THIS TALK

  • Jewish history and genetics
  • Classification of Jews
  • Genetic diseases found in Jews, particularly Ashkenazi Jews
  • Lysosomal storage diseases
  • Natural selection (heterozygote advantage) vs. genetic drift
  • Mutation frequencies, ages and geographic distributions
  • Bottlenecks in Jewish history
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Dr. Bertrand Desjardins
Prof. Damian Labuda
Dr. Marc St-Hilaire
Prof. Marc Tremblay
Prof. Helene Vezina

TOPICS COVERED IN THIS TALK

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  • Regional distribution of disease mutations
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Prof. Joanna Mountain

TOPICS COVERED IN THIS TALK

  • Neutral genetic variation and African prehistory
  • Non-neutral genetic variation of Africa and natural selection
  • Social and medical implications of genetic variation in Africa
  • Resources
Play '25. The Peopling of the Americas: New Insights from Genetic Studies'
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Dr. Theodore Schurr

TOPICS COVERED IN THIS TALK

  • Anthropological background
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  • Megafauna extinction models
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  • Was Clovis first?
  • Two different founding populations colonized the Americas
  • Linguistic evidence
  • Genetic background
  • mtDNA lineages in native Americans
  • mtDNA haplogroup frequencies in Siberia and the Americas
  • Population history of Amerindian haplogroups
  • Haplogroup X in North and Central America
  • Prehistoric European migration to North America
  • History and diversification of circumarctic peoples
  • Ancient vs. modern population diversity
  • Colonization of the Caribbean
  • Y chromosome haplogroup frequencies in the Americas
  • Y chromosome haplogroup frequencies in native Siberians
  • Y chromosome SNP haplotype network
  • Migration models based on Y chromosome data
Play '26. Genetics of Pakistani Populations in an Asian and Global Context'
26. Genetics of Pakistani Populations in an Asian and Global Context More info
Prof. S. Qasim Mehdi

TOPICS COVERED IN THIS TALK

  • Population genetics
  • Pakistan and south west Asia
  • Human migrations
  • DNA markers
  • Alu repeats, SNPs and STRs
  • Y chromosome, mitochondrial DNA and HLA markers unravel genetic relationships among populations in Asia and Pakistan
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27. Historical and Geographical Genetic Variation: Europe
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