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Hey, you.
Yeah, you.
Hands up if you agree:
Humans are no longer evolving.
Hands up if you agree:
Humans are no longer evolving.



    (I see you there in the back)
If so, you’re in good company.
Stephen J. Gould
Ernst Mayr
Are humans still evolving?
Steven Hamblin




                           University of New South Wales
           School of Biotechnology and Biomolecular Sciences
YES.
Change in gene frequencies
in a population
        from generation to generation
mutation



                NATURAL selection

genetic drift


                     gene flow (migration)
mutation



                NATURAL selection

genetic drift


                     gene flow (migration)
Past
Present
Future
Past
Past Present future
Past Present future
Past Present future
Past Present future
Past Present future


                      Distribution of LP in the ‘Old World’




                          Gerbault P et al. Phil. Trans. R. Soc. B 2011;366:863-877
Past Present future
Past Present future



                      Culture
                      accelerates
                      evolution
Past Present future




   The incredible
   SHRINKING          BRAIN
Past Present future




      20,000 years ago   Present day
     1500 cc             1350 cc
Microcephaly
Tajima_s D, which is a summary statistic for        nants between D and non-D chromosomes as             We genotyped the diagnostic G37995C SNP in
      the frequency spectrum of alleles, is –2.3 for      evidenced by recombination tracts (table S2).        this panel to infer the frequency of haplogroup D
Past Present future
      haplogroup D (whereas it is –1.2 for the
      non-D chromosomes). This strongly negative
                                                          The remaining 121 copies of haplogroup D
                                                          chromosomes show no evidence of recom-
                                                                                                               chromosomes (Fig. 3). Geographic variation
                                                                                                               was observed, with sub-Saharan populations
      Tajima_s D indicates a starlike genealogy for       bination. By comparison, the non-D chromo-           generally having lower frequencies than others.
      haplogroup D chromosomes (47). Thus, both           somes do not display any significant LD across       The statistic for genetic differentiation, FST, is
      summary statistics contrast sharply between D       the region.                                          0.48 between sub-Saharans and others, which
      and non-D chromosomes and are consistent                To probe the extent of LD beyond the             indicates strong differentiation (48) and is sig-
      with the recent age and rapid expansion of          29-kb core region, we sequenced the Coriell          nificantly higher than the genome average of




                                                                                                                                                                    Downloaded from www.sciencemag.org on March 6, 2013
      haplogroup D. We note that these calculations       panel for two segments of about 3 kb each,           0.12 (P G 0.03 based on previously established
      do not provide a statistically stringent test of    situated at the beginning and end of the gene        genomewide FST distribution) (49). Such pop-
      positive selection, because they are done on        separated from each other by about 235 kb. In        ulation differentiation may reflect a Eurasian

      MPCH1
      subsets of the genealogy. Nevertheless, they do     these flanking regions, there is clear evidence      origin of haplogroup D, local adaptation, and/or
                                                                                                             Evans et al. (2005)




      Fig. 3. Global frequencies of Microcephalin haplogroup D chromosomes          62.5%); 24, Brahui (Pakistan, 25, 78%); 25, Kalash (Pakistan, 24, 62.5%); 26,
      (defined as having the derived C allele at the G37995C diagnostic SNP) in a   Sindhi (Pakistan, 25, 78%); 27, Hezhen (China, 9, 77.8%); 28, Mongola
      panel of 1184 individuals. For each population, the country of origin,        (China, 10, 100%); 29, Daur (China, 10, 85%); 30, Orogen (China, 10,
      number of individuals sampled, and frequency of haplogroup D chro-            100%); 31, Miaozu (China, 9, 77.8%); 32, Yizu (China, 10, 85%); 33, Tujia
      mosomes are given (in parentheses) as follows: 1, Southeastern and            (China, 10, 75%); 34, Han (China, 41, 82.9%); 35, Xibo (China, 9, 83.3%);
      Southwestern Bantu (South Africa, 8, 31.3%); 2, San (Namibia, 7, 7.1%);       36, Uygur (China, 10, 90%); 37, Dai (China, 9, 55.6%); 38, Lahu (China,
      3, Mbuti Pygmy (Democratic Republic of Congo, 15, 3.3%); 4, Masai             10, 85%); 39, She (China, 9, 88.9%); 40, Naxi (China, 10, 95%); 41, Tu
      (Tanzania, 27, 29.6%); 5, Sandawe (Tanzania, 32, 39.1%); 6, Burunge (Tan-     (China, 10, 75%); 42, Cambodian (Cambodia, 11, 72.7%); 43, Japanese
Signals of
                                SELECTION                                                                                          Oleksyk et al. (2010)
Phil. Trans. R. Soc. B (2010)




                                Table 2. Candidate genes, the tests used to identify selection and GWSSs that found them. (The candidate genes with any evidence of selection found by genom
                                not applicable.)

                                chromo-                                                                                                                            found by scan (same
                                some        gene            location     author                 discovered by            test(s)                population(s)      locus)

                                1           FY              1q21 –q22    Hamblin & Di           frequency spectrum,      Fay and Wu’s H, FST    Africans
                                                                          Rienzo (2000)            population
                                                                                                   differentiation
                                1           AGT             1q42 –q43    Nakajima et al.        unusual LD               tight LD               Africans
                                                                           (2004)
                                1           ASPM            1q31         Mekel-Bobrov et al.    comparative methods      Ka/Ks                  World
                                                                           (2005)
                                2           LCT             2q21         Bersaglieri et al.     unusual LD               iHs, EHH               Europeans,         Frazer et al. (2007);
                                                                           (2004)                                                                 World              Nielsen et al. (2005);
                                                                                                                                                                     Voight et al. (2006)
                                2           CAPN10          2q37.3       Fullerton et al.       population differences   FST                    Africans versus
                                                                           (2002)                                                                 non-African
                                3           CCR5            3p21.31      Stephens et al.        population differences   FST and low            Europeans          Oleksyk et al. (2008)
                                                                           (1998)                                          heterozygosity
Present
Past Present future
Past Present future
Past Present future
Past Present future
Past Present future

                Plasmodium falciparum

                Malaria
Past Present future




                      660,000 deaths
                      in 2010
Hemoglobin A/S
Past Present future




              sickle cell
              anemia
Past Present future




                      Aidoo et al. (2002)
Past Present future




                                    se lec tion
                       al anc ing
                      B
Past Present future
Past Present future




                                                        That’s 52 million.




                      http://edition.cnn.com/2012/11/14/opinion/china-challenges-one-child-brooks
Past Present future
                                                    Asia’s missing women


              Figure 1. Childhood sex ratios in eight countries responsible for the largest number of
              missing women and girls, compared with the childhood sex ratio for the rest of the world
              (dashed line)




              Note: Data from CIA World Factbook.

                      Some diseases alter the probability of a woman giving birth to a boy or girl.
              Infection with the protozoan parasite Toxoplasma gondii, for example, can cause sex ratios
                                                                                                         Brooks (2012)
Past Present future




                 TIO
           SeX RA
Past Present future




             Infanticide
                           Reproductive skew




                       Male conflict
Past Present future
Past Present future
Past Present future
Future
Is human evolution
finished?
Past Present future
Past Present future
Past Present future
Past Present future




                      influenza
                      norovirus
                      multi-drug resistant TB
                      MRSA
                      SARS
                      pertussis (whooping cough)
                      Haiti cholera outbreak
Past Present future




Human genetic diversity
has never been greater
Past Present future                                                    Méle et al. (2012)



bination estimates of human effective population size · doi:10.1093/molbev/msr213
                        Africa                         Europe / Asia
Past Present future
Past Present future




                      http://www.nature.com/scitable/topicpage/ribosomes-transcription-and-translation-14120660
Past Present future
Past Present future




           3.2 billion base pairs.
Past Present future




           3.2 billion base pairs.
                               9               8
   Mutation rate of 1.0 ⇥ 10       (2.3 ⇥ 10       ).
Past Present future




           3.2 billion base pairs.
                                           9               8
   Mutation rate of 1.0 ⇥ 10                   (2.3 ⇥ 10       ).
                9
  1.0 ⇥ 10          · 3.2 ⇥ 109 · 2 = 6.4 mutations per person.
Past Present future




           3.2 billion base pairs.
                                          9                8
   Mutation rate of 1.0 ⇥ 10                  (2.3 ⇥ 10        ).
                9
  1.0 ⇥ 10         · 3.2 ⇥ 109 · 2 = 6.4 mutations per person.
                8
  2.3 ⇥ 10        · 3.2 ⇥ 109 · 2 = 147.0 mutations per person.
Past Present future




           3.2 billion base pairs.
                                          9                8
   Mutation rate of 1.0 ⇥ 10                  (2.3 ⇥ 10        ).
                9
  1.0 ⇥ 10         · 3.2 ⇥ 109 · 2 = 6.4 mutations per person.
                8
  2.3 ⇥ 10        · 3.2 ⇥ 109 · 2 = 147.0 mutations per person.
  ⇡ 6.9 billion people as of mid-2010.
Past Present future




           3.2 billion base pairs.
                                          9                8
   Mutation rate of 1.0 ⇥ 10                  (2.3 ⇥ 10        ).
                9
  1.0 ⇥ 10         · 3.2 ⇥ 109 · 2 = 6.4 mutations per person.
                8
  2.3 ⇥ 10        · 3.2 ⇥ 109 · 2 = 147.0 mutations per person.
  ⇡ 6.9 billion people as of mid-2010.
     About 3.6 billion of reproductive age.
Past Present future




  22 billion to 529 billion
  mutations per generation!
Past Present future
    Mutation is the fuel of evolution
    And the tank has never been fuller.
mutation



                NATURAL selection

genetic drift


                     gene flow (migration)
mutation



                NATURAL selection

genetic drift


                     gene flow (migration)
Thanks!

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Human Evolution Talk

  • 3. Hands up if you agree: Humans are no longer evolving.
  • 4. Hands up if you agree: Humans are no longer evolving. (I see you there in the back)
  • 5. If so, you’re in good company.
  • 8.
  • 9. Are humans still evolving? Steven Hamblin University of New South Wales School of Biotechnology and Biomolecular Sciences
  • 10.
  • 11. YES.
  • 12. Change in gene frequencies in a population from generation to generation
  • 13. mutation NATURAL selection genetic drift gene flow (migration)
  • 14. mutation NATURAL selection genetic drift gene flow (migration)
  • 15. Past
  • 18. Past
  • 23. Past Present future Distribution of LP in the ‘Old World’ Gerbault P et al. Phil. Trans. R. Soc. B 2011;366:863-877
  • 25. Past Present future Culture accelerates evolution
  • 26. Past Present future The incredible SHRINKING BRAIN
  • 27. Past Present future 20,000 years ago Present day 1500 cc 1350 cc
  • 29. Tajima_s D, which is a summary statistic for nants between D and non-D chromosomes as We genotyped the diagnostic G37995C SNP in the frequency spectrum of alleles, is –2.3 for evidenced by recombination tracts (table S2). this panel to infer the frequency of haplogroup D Past Present future haplogroup D (whereas it is –1.2 for the non-D chromosomes). This strongly negative The remaining 121 copies of haplogroup D chromosomes show no evidence of recom- chromosomes (Fig. 3). Geographic variation was observed, with sub-Saharan populations Tajima_s D indicates a starlike genealogy for bination. By comparison, the non-D chromo- generally having lower frequencies than others. haplogroup D chromosomes (47). Thus, both somes do not display any significant LD across The statistic for genetic differentiation, FST, is summary statistics contrast sharply between D the region. 0.48 between sub-Saharans and others, which and non-D chromosomes and are consistent To probe the extent of LD beyond the indicates strong differentiation (48) and is sig- with the recent age and rapid expansion of 29-kb core region, we sequenced the Coriell nificantly higher than the genome average of Downloaded from www.sciencemag.org on March 6, 2013 haplogroup D. We note that these calculations panel for two segments of about 3 kb each, 0.12 (P G 0.03 based on previously established do not provide a statistically stringent test of situated at the beginning and end of the gene genomewide FST distribution) (49). Such pop- positive selection, because they are done on separated from each other by about 235 kb. In ulation differentiation may reflect a Eurasian MPCH1 subsets of the genealogy. Nevertheless, they do these flanking regions, there is clear evidence origin of haplogroup D, local adaptation, and/or Evans et al. (2005) Fig. 3. Global frequencies of Microcephalin haplogroup D chromosomes 62.5%); 24, Brahui (Pakistan, 25, 78%); 25, Kalash (Pakistan, 24, 62.5%); 26, (defined as having the derived C allele at the G37995C diagnostic SNP) in a Sindhi (Pakistan, 25, 78%); 27, Hezhen (China, 9, 77.8%); 28, Mongola panel of 1184 individuals. For each population, the country of origin, (China, 10, 100%); 29, Daur (China, 10, 85%); 30, Orogen (China, 10, number of individuals sampled, and frequency of haplogroup D chro- 100%); 31, Miaozu (China, 9, 77.8%); 32, Yizu (China, 10, 85%); 33, Tujia mosomes are given (in parentheses) as follows: 1, Southeastern and (China, 10, 75%); 34, Han (China, 41, 82.9%); 35, Xibo (China, 9, 83.3%); Southwestern Bantu (South Africa, 8, 31.3%); 2, San (Namibia, 7, 7.1%); 36, Uygur (China, 10, 90%); 37, Dai (China, 9, 55.6%); 38, Lahu (China, 3, Mbuti Pygmy (Democratic Republic of Congo, 15, 3.3%); 4, Masai 10, 85%); 39, She (China, 9, 88.9%); 40, Naxi (China, 10, 95%); 41, Tu (Tanzania, 27, 29.6%); 5, Sandawe (Tanzania, 32, 39.1%); 6, Burunge (Tan- (China, 10, 75%); 42, Cambodian (Cambodia, 11, 72.7%); 43, Japanese
  • 30. Signals of SELECTION Oleksyk et al. (2010) Phil. Trans. R. Soc. B (2010) Table 2. Candidate genes, the tests used to identify selection and GWSSs that found them. (The candidate genes with any evidence of selection found by genom not applicable.) chromo- found by scan (same some gene location author discovered by test(s) population(s) locus) 1 FY 1q21 –q22 Hamblin & Di frequency spectrum, Fay and Wu’s H, FST Africans Rienzo (2000) population differentiation 1 AGT 1q42 –q43 Nakajima et al. unusual LD tight LD Africans (2004) 1 ASPM 1q31 Mekel-Bobrov et al. comparative methods Ka/Ks World (2005) 2 LCT 2q21 Bersaglieri et al. unusual LD iHs, EHH Europeans, Frazer et al. (2007); (2004) World Nielsen et al. (2005); Voight et al. (2006) 2 CAPN10 2q37.3 Fullerton et al. population differences FST Africans versus (2002) non-African 3 CCR5 3p21.31 Stephens et al. population differences FST and low Europeans Oleksyk et al. (2008) (1998) heterozygosity
  • 36. Past Present future Plasmodium falciparum Malaria
  • 37. Past Present future 660,000 deaths in 2010
  • 39. Past Present future sickle cell anemia
  • 40. Past Present future Aidoo et al. (2002)
  • 41. Past Present future se lec tion al anc ing B
  • 43. Past Present future That’s 52 million. http://edition.cnn.com/2012/11/14/opinion/china-challenges-one-child-brooks
  • 44. Past Present future Asia’s missing women Figure 1. Childhood sex ratios in eight countries responsible for the largest number of missing women and girls, compared with the childhood sex ratio for the rest of the world (dashed line) Note: Data from CIA World Factbook. Some diseases alter the probability of a woman giving birth to a boy or girl. Infection with the protozoan parasite Toxoplasma gondii, for example, can cause sex ratios Brooks (2012)
  • 45. Past Present future TIO SeX RA
  • 46. Past Present future Infanticide Reproductive skew Male conflict
  • 55. Past Present future influenza norovirus multi-drug resistant TB MRSA SARS pertussis (whooping cough) Haiti cholera outbreak
  • 56. Past Present future Human genetic diversity has never been greater
  • 57. Past Present future Méle et al. (2012) bination estimates of human effective population size · doi:10.1093/molbev/msr213 Africa Europe / Asia
  • 59. Past Present future http://www.nature.com/scitable/topicpage/ribosomes-transcription-and-translation-14120660
  • 61. Past Present future 3.2 billion base pairs.
  • 62. Past Present future 3.2 billion base pairs. 9 8 Mutation rate of 1.0 ⇥ 10 (2.3 ⇥ 10 ).
  • 63. Past Present future 3.2 billion base pairs. 9 8 Mutation rate of 1.0 ⇥ 10 (2.3 ⇥ 10 ). 9 1.0 ⇥ 10 · 3.2 ⇥ 109 · 2 = 6.4 mutations per person.
  • 64. Past Present future 3.2 billion base pairs. 9 8 Mutation rate of 1.0 ⇥ 10 (2.3 ⇥ 10 ). 9 1.0 ⇥ 10 · 3.2 ⇥ 109 · 2 = 6.4 mutations per person. 8 2.3 ⇥ 10 · 3.2 ⇥ 109 · 2 = 147.0 mutations per person.
  • 65. Past Present future 3.2 billion base pairs. 9 8 Mutation rate of 1.0 ⇥ 10 (2.3 ⇥ 10 ). 9 1.0 ⇥ 10 · 3.2 ⇥ 109 · 2 = 6.4 mutations per person. 8 2.3 ⇥ 10 · 3.2 ⇥ 109 · 2 = 147.0 mutations per person. ⇡ 6.9 billion people as of mid-2010.
  • 66. Past Present future 3.2 billion base pairs. 9 8 Mutation rate of 1.0 ⇥ 10 (2.3 ⇥ 10 ). 9 1.0 ⇥ 10 · 3.2 ⇥ 109 · 2 = 6.4 mutations per person. 8 2.3 ⇥ 10 · 3.2 ⇥ 109 · 2 = 147.0 mutations per person. ⇡ 6.9 billion people as of mid-2010. About 3.6 billion of reproductive age.
  • 67. Past Present future 22 billion to 529 billion mutations per generation!
  • 68. Past Present future Mutation is the fuel of evolution And the tank has never been fuller.
  • 69. mutation NATURAL selection genetic drift gene flow (migration)
  • 70. mutation NATURAL selection genetic drift gene flow (migration)
  • 71.
  • 72.