Variant arose about years ago

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Presentation transcript:

Variant arose about 5800 years ago

The age of haplogroup D was found to be ~37,000 years

Fig. 6 Four possible scenarios of genetic mixture involving Neandertals. Four possible scenarios of genetic mixture involving Neandertals. Scenario 1 represents gene flow into Neandertal from other archaic hominins, here collectively referred to as Homo erectus. This would manifest itself as segments of the Neandertal genome with unexpectedly high divergence from present-day humans. Scenario 2 represents gene flow between late Neandertals and early modern humans in Europe and/or western Asia. We see no evidence of this because Neandertals are equally distantly related to all non-Africans. However, such gene flow may have taken place without leaving traces in the present-day gene pool. Scenario 3 represents gene flow between Neandertals and the ancestors of all non-Africans. This is the most parsimonious explanation of our observation. Although we detect gene flow only from Neandertals into modern humans, gene flow in the reverse direction may also have occurred. Scenario 4 represents old substructure in Africa that persisted from the origin of Neandertals until the ancestors of non-Africans left Africa. This scenario is also compatible with the current data. R E Green et al. Science 2010;328:710-722 Published by AAAS

Did the Denisovans Cross Wallace's Line? Science 18 October 2013: vol. 342 no. 6156 321-323 Ancient migrations. The proportions of Denisovan DNA in modern human populations are shown as red in pie charts, relative to New Guinea and Australian Aborigines (3). Wallace's Line (8) is formed by the powerful Indonesian flow-through current (blue arrows) and marks the limit of the Sunda shelf and Eurasian placental mammals.

Figure 3 A Model of Population Separation and Admixture that Fits the Data The admixture graph suggests Denisova-related gene flow into a common ancestral population of Mamanwa, New Guineans, and Australians, followed by admixture of New Guinean... David Reich , Nick Patterson , Martin Kircher , Frederick Delfin , Madhusudan R. Nandineni , Irina Pugach , Albert... Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania The American Journal of Human Genetics Volume 89, Issue 4 2011 516 - 528 http://dx.doi.org/10.1016/j.ajhg.2011.09.005

Archaic human admixture with modern Homo sapiens From: http://en.wikipedia.org/wiki/Archaic_human_admixture_with_modern_Homo_sapiens

The same is true for ancestral rRNAs, EF, ATPases! Y chromosome Adam Mitochondrial Eve Lived approximately 40,000 years ago Lived 166,000-249,000 years ago Thomson, R. et al. (2000) Proc Natl Acad Sci U S A 97, 7360-5 Underhill, P.A. et al. (2000) Nat Genet 26, 358-61 Mendez et al. (2013) American Journal of Human Genetics 92 (3): 454. Cann, R.L. et al. (1987) Nature 325, 31-6 Vigilant, L. et al. (1991) Science 253, 1503-7 Albrecht Dürer, The Fall of Man, 1504 Adam and Eve never met  The same is true for ancestral rRNAs, EF, ATPases!

“Genotyping of a DNA sample that was submitted to a commercial genetic-testing facility demonstrated that the Y chromosome of this African American individual carried the ancestral state of all known Y chromosome SNPs.” Mendez , et al. 2013 An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree The American Journal of Human Genetics Volume 92, Issue 3 2013 454 - 459 http://dx.doi.org/10.1016/j.ajhg.2013.02.002

Figure 1 Genealogy of A00, A0, and the Reference Sequence Lineages on which mutations were identified and lineages that were used for placing those mutations on the genealogy are indicated with thick and thin lines, respectively. The numbers of ... Mendez , et al. 2013 An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree The American Journal of Human Genetics Volume 92, Issue 3 2013 454 - 459 http://dx.doi.org/10.1016/j.ajhg.2013.02.002

Figure 2 Map Showing Cameroon and the Approximate Location where Mbo Speakers Live Fernando L. Mendez , Thomas Krahn , Bonnie Schrack , Astrid-Maria Krahn , Krishna R. Veeramah , August E. Woerner ... An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree The American Journal of Human Genetics Volume 92, Issue 3 2013 454 - 459 http://dx.doi.org/10.1016/j.ajhg.2013.02.002

For more discussion on archaic and early humans see: http://en.wikipedia.org/wiki/Denisova_hominin http://www.nytimes.com/2012/01/31/science/gains-in-dna-are-speeding-research-into-human-origins.html http://www.nytimes.com/2014/10/23/science/research-humans-interbred-with-neanderthals.html? http://www.sciencedirect.com/science/article/pii/S0002929711003958 http://www.abc.net.au/science/articles/2012/08/31/3580500.htm http://www.sciencemag.org/content/334/6052/94.full http://www.sciencemag.org/content/334/6052/94/F2.expansion.html http://haplogroup-a.com/Ancient-Root-AJHG2013.pdf

How do you define evolution? Richard Goldschmidt 1940 hopeful monsters Mutationism HGT/WGD! Punctuated Equilibrium Few genes / large effect Vilified by Mayr, celebrated 1977 Gould & Evo-devo Ernst Mayr 1942 NeoDarwinian Synthesis Natural Selection Gradualism Many genes/small effect Dario – “Fisher right” Motoo Kimura 1968 Neutral Theory Genetic Drift is main force for changing allele frequencies Goldschmitdt,R. (1940). The Material Basis of Evolution Mayr, Ernst (1942). Systematics and the origin of species, from the viewpoint of a zoologist Slide from Chris Pires

Duplications and Evolution Susumu Ohno 1970 Evolution by gene duplication 1R and 2R hypothesis “Junk DNA” 1972 Ohno postulated that gene duplication plays a major role in evolution Small scale duplications (SSD) Whole genome duplications (WGD) Polyploid: nucleus contains three or more copies of each chromosome Autopolyploid: formed within a single species Diploids AA and A’A’ Polyploid AAA’A’ Allopolyploid: formed from more than one species Diploids AA and BB Polyploid AABB Slide from Chris Pires

Aside: Gene and genome duplication versus Horizontal Gene Transfer Gene family expansion through horizontal gene transfer – the most common process in prokaryotes Gene duplication through lineage fusion Very common in plants, but also in animals Autochtonous gene/genome duplication are rare in prokaryotes