the history of homo sapienswiki.biol.uw.edu.pl/t/img_auth.php/1/1a/lecture_1_2013_en.pdf · ! 6 –...
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Evolution of human diversity
The history of Homo sapiens
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The primates
Chimpanzee
OrangutanGorilla
Human
Millions years ago
GibbonMacaque
HumanChimpanzeeBonoboGorillaOrangutanGibbon
HumanBonobo ChimpanzeeOrangutanMacaque Gorilla!2
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The last most recent common ancestor of humans and chimps
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} 6 – 7 MYA – fossils } Problems assigning fossils to lineages
} 5 – 6 MYA – sequence comparisons } Different models give different results (up to 2x)
} Not earlier than 8 MYA } As distant from humans, as from chimps
} we do not come from chimps or any other modern primate
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Complex relations
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} Many primate fossils found, some existed at the same time } Difficult to establish phylogeny
} Ancestors or side lineages?
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Sahelanthropus tchadensis - Toumaï} Close to the MRCA of humans
and chimps? } Skull the size of chimp, but
proportions more “human” } About the time of speciation } Could be a side lineage?
} Only a fragment of one skull found
} ~ 6-7 MYA
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Orrorin tugenensis
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} Discovered: 2001 } ~ 5 - 6 MYA } Ancestor of Homo?
} If so, was Australopithecus a side lineage? } Some characteristics more human-like than
Australopithecus
} Bipedal? } based on bone structure – at least
partially
} Habitat – forest or savanna? } forest or border
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Ardipithecus ramidus - Ardi
!7
} Discovered in 1994, published in 2009 } 4.4 MYA } Oldest hominin } At least partially bipedal } Ancestor of Australopithecus (?)
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Ardipithecus ramidus - Ardi
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Ardipithecus
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Debate
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} It is difficult to assign the older fossils to a lineage } human lineage (hominins)? } chimpanzee lineage? } another lineage, with no surviving descendants
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Evolution is not a straight line!
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Australopithecus
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} Many species found } gracile and robust
} 4 – 2 MYA } Most famous: A. afarensis
} Lucy (~3.6 mln lat) } Mrs. Ples
} A. africanus } The Taung child
} A. boisei - Olduvai
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Australopithecus sediba
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} Described in 2010, Age: ~ 2 MY } Many traits between Australopithecus and Homo
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Australopithecus sediba
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Skull volume closer to Australopithecus (~420 cm3), but some morphological traits closer to Homo - lateral asymmetry – language?
http://www.sciencemag.org
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Human ancestry?
!15
} Australopithecus afarensis -> Homo habilis } A. sediba – side lineage
!} A. africanus -> A. sediba -> Homo
} A. afarensis – side lineage
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Homo
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} ~ 2.3 MYA } older than A. sediba – one had to be a side branch
} The Olduvai culture tools (1.9 MYA) – Homo habilis
} Homo erectus, H. ergaster (“pithecanthropus”) – 1.5 MYA, extinct 70 000 YBP } First to leave Africa } First to use fire } Hunting (spears) } Social structures
Narzędzie sprzed 1,8 mln. lat z Olduvai British Museum
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Homo
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} Fossils found in Republic of Georgia (Dmanisi) (~1.8 MYA) suggest that H. habilis, H. ergaster and H. rudolfensis could be the same species as H. erectus
} Based on morphological variation (no ancient DNA that old)
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The cradle of humanity
!19
Australopithecus afarensis (Lucy) oldest Homo fossils (a jawbone ~ 2.3 MY)
Australopithecus, Homo habilis, H. erectus, H. sapiens
Australopithecus africanus A. sediba
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The cradle of humanity
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The first migrations from Africa
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About 2 MYA …
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Multiregional hypothesis = regional continuity
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Multiregional evolution
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} Human ancestors left Africa ~ 2 million years ago and evolved in parallel on different continents
} Gene flow (continuity) between regional populations } if that were the case, TMRCA of modern humans should
be ~ 2 MYA } mtDNA studies showed TMRCA ~ 200 000 years
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The OAR model (Out of Africa Replacement)
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OAR
!27
} Out of Africa } ~ 200 000 an ancestral population (already
anatomically modern H. sapiens) migrated from Africa to other continents
} New migrants displaced the previous hominids, without mixing and drove them to extinction
} All modern humans are descendants of this last wave of migration
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} mtDNA is highly polymorphic } inherited as a single genetic unit (uniparental
inheritance) } sets of polymorphism inherited together as
haplotypes } haplogroups (clusters of haplotypes sharing
common polymorphisms) correlate with population history - used in anthropology, forensics etc.
mtDNA polymorphism
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mtDNA haplogroups
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mtDNA tree
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Y chromosome haplogroups
Jobling & Tyler-Smith (2003) Nature Rev. Genet. 4, 598-612!32
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Conclusions} mtDNA and chromosome Y trees are both rooted
in African populations } TMRCA -100 000—200 000 years } Supports OAR (recent African descent)
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Human genetic diversity is low
!36
} Two chimpanzees (e.g. Central and Western African) have up to 5 x more genetic differences than most distant humans
} Human genetic diversity highest in Africa } Bottlenecks
} Migrations -‐ serial founder effect } Natural disaster 70 000 years ago (Toba volcano)? } Population reduced in Africa before migrations (~170 000years ago, climate change)?
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Population bottleneck
An episode of reduction in population size, leading to reduced allelic diversity
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Founder effect
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} A new population started by a small subgroup of original population can have radically different allele frequencies
} Some rare human genetic diseases are frequent in particular isolated populations
} Reduction in human genetic diversity – serial founder effect } genetic diversity decreases with
increasing distance from African ancestors
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The island of the colorblind
!39
} In 1775 the Pingelap atoll was devastated by a typhoon, killing ~90% of the population, ~20 people survived
} One of them was the ruler Nahnmwarki Mwanenised, who was a carrier of the rare autosomal recessive achromatopsia
} Currently 10% of islanders are colorblind, a 30% are carriers } In the USA the incidence of achromatopsia is 1:33 000
} Achromatopsia (nonfunctional cones) is not daltonism!
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• The ‘Star cluster’ of Y haplotypes in Mongolia ~1,000 (700-1300) years ago • Currently in ~8% men in Central-Eastern Asia, ~0.5% worldwide • Genghis Khan?
Zerjal et al. (2003) Am. J. Hum. Genet. 72, 717-721
Recent changes in diversity
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Neanderthals} Earliest fossil traces (Asia) ~ 400 000 years b.p. } Lived in Europe, extinct~30 000 years b.p. } Modern humans colonized Europe~ 40 000 - 50
000 years b.p. } Were Neanderthals ancestors of Europeans, did
they interbreed with humans?
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Neanderthals
!42
} Human and Neanderthal lineages split ~ 600 000 years ago } Was in Europe before H. sapiens (earlier migration) } Culture (burials), tools, probably speech
Wikimedia commons, Anthropological Institute, University of Zürich
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The Neanderthal genome project
} mtDNA fragments of several specimens (1997) } ~ 106 bp of nDNA (2006) } 60% of nuclear genome (2010) } more complete genome of several specimens
(2013)
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Krings M., Stone A., Schmitz R.W., Krainitzki H., Stoneking M., and Pääbo S. (1997), Cell, 90:19-30.
mtDNA
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Knight A. (2003): Journal of Human Evolution, 44:627-32.
mtDNA tree
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mtDNA - conclusions} Neanderthal mtDNA outside the human tree } Not closer to Europeans than to other populations } No sign of interbreeding in Neanderthal maternal
lineage } Low population genetic diversity
!47
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nDNA results - evolution
!48
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Genome sequencing conclusions
} Human and Neanderthal lineages split long before the last common ancestor of modern humans
} Neanderthals were not our ancestors } What about interbreeding?
!49
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The 2010 genome analysis
!50
} Confirmed the final split of lineages ~270 000 - 440 000 years ago
} SNP polymorphic sites – Neanderthal alleles found in human genomes, but only from Europe, Asia, and Oceania
} No Neanderthal SNPs in African genomes
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Did humans and Neanderthals interbreed?
!51
} ~ 4% of polymorphisms in Eurasian genomes of Neanderthal origin !
} Low level of interbreeding between Neanderthals and ancestors of Eurasian populations
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Scenarios
!52
} Amount of Neanderthal alleles is the same in Europe, Asia and Papua New Guinea } Interbreeding with the ancestors of E, A i PNG,
somewhere in the Middle East } Intermixing was rare
} wavefront effect – rapid expansion of migrant population amplifies the alleles intermixed from the encountered local populations
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Not just Neanderthals
!53
} Fossils from the Denisova cave (Altai mountains) } Contemporary of Neanderthals
} probably a sister group } Traces of interbreeding in human populations from Oceania
} intermixing episode during migration to SE Asia
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Interbreeding
!54
} Recent Denisovan genome sequence (2013) suggests interbreeding with H. sapiens, H. neanderthalensis and a fourth unknown hominid
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The Sima de los Huesos mystery
!55
} DNA from a 400 000 years old bone fragment from Northern Spain- mtDNA closer to Denisovan than Neanderthal } bones and teeth look closer to Neanderthal } ancestor of Denisovans and Neanderthals? } a separate lineage?
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!56
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Conclusions
!57
} OAR is essentially supported, but more complex than thought
} Migrants could interbreed with earlier populations
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Not so simple story
!58
} mtDNA of modern Europeans is different from European mtDNA from before 10 000 years ago } neolithic migrations (~7 000 YBP) } subsequent migrations
} also early and late Neanderthal mtDNA is different } significant inbreeding among Neanderthals - small
population size (cause of extinction?)
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European prehistory
!59
} First settlement from Africa (~ 50 000 YBP) } Glacial period - repeopling from southern refugia and
postglacial recolonization (18 000 - 10 000 YBP) } Neolithic farmer migration from Near East (7 000 YBP) } later migrations
} Indo-European migration 4 000 - 1 000 YBP
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European prehistory
!60
} 3 ancestral populations } West European Hunter-Gatherers (earliest) } Ancient North Eurasians (Siberia), also contributed to Native
Americans } Early European Farmers (Middle East, Neolithic revolution)
} Based on ancient DNA sequences from 7 000 - 8 000 year old skeletons
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!61
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Descendants of the first Europeans?
!62
} All European populations are a mixture of pre-neolithic (hunter-gatherer) and neolithic (farming) ancestry
} The only signs of continuity from pre-neolithic times - the Basque
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Out of Africa - human genetic diversity
!63
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Genetic diversity gradient
!64
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More than genes
!65
} Genetic diversity correlates with language diversity
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The diversity of languages
!66
classification based on phonemes (sounds)
phoneme diversity
Atkinson, Science (2011) 332: 346-349
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The spread of language
!67
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The question of race
!68
} Lewontin’s argument } variation within group higher than between groups } traits allowing to distinguish races - ~6% of all variability
} Traditional classification of races is based on traits that are not a good measure of genetic similarity } skin colour (~6 genes), nose and eye shape – under selection
} Some traits do show correlation (covariance) } gradients, not groups
} A continuum of genetic variability reflecting population history is real
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The question of race
!69
} A continuum of genetic variability reflecting population history is real
} But it does not allow to create meaningful divisions } A monophyletic group that would include all the
descendants of a common ancestor of Africans would also include all non-Africans