Human Evolutionary Genetics Lecture 5

Subfields of Evolutionary Biology

Microevolution – pertains to evolutionary

Evolutionary Genetics of Humans, changes in frequencies of different allelic
forms of genes within populations
Hominins and other Primates
Macroevolution – refers to evolution on a
grand scale, encompassing the origins of
new organismal structures and designs,
evolutionary trends, adaptive radiation,
phylogenetic relationships of species, and
mass extinction

Microevolution vs Macroevolution Models of Human Evolution

Candelabra model -
transition from H.
Process Unit of selection Source of variability Type of selection
erectus to H. sapiens
occurred independently
Natural selection in different parts of the
A. Survival against World.
Microevolution Individual Mutation/Recombin death
ation B. Rate of
African replacement
reproduction
model - populations of H.
erectus and archaic H.
Species selection sapiens became extinct in
Macroevolution Species Speciation A. Survival against Asia and Europe and were
extinction replaced by anatomically
B. Rate of modern humans
speciation
immigrating from Africa .
Source: Stanley, S.M. 1975. A theory of evolution above the species
level. Proc. Nat. Acad. Sci. USA 72: 646-650.  Multiregional model - regional continuity and local selection pressures
in different parts of the world, but with gene flow (dashes connecting the
vertical lines) due to occasional migrations between populations.
(Ayala et al. 1994. Proc. Natl. Acad. USA. Vol. 91: 6787-6794)

 Homo erectus originated in Africa by 1.8 mya

 It was the first hominin to leave Africa

12-14Kya

Ancient dispersal patterns of modern humans during the

Homo erectus Homo sapiens
past 100,000 y.
 prominent brow ridges  absence of brow ridges
 chin recessed  chin protruding Henn et al. 2012. The great human expansion. PNAS 109: 17758–17764.

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Migration models relating to the origins of Austronesians

Human Genome, Neanderthal

Genome and Genomes of other
Primates

“Early-train” model “Express-train” model

The total genetic content contained in a haploid set of chromosomes in

eukaryotes, in a single chromosome in bacteria, or in the DNA or RNA of viruses

Approaches to genome sequencing

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Figure 3.1 Genomes 3 (© Garland Science 2007)

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The random nature of sequence generation by whole-genome

shotgun approach means that some parts of the genome are covered
by more minisequences than other parts.

Pie chart of the fractions of the genomes sequenced (blue)

and not sequenced ( non-blue )

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Human Evolutionary Genetics
A preliminary list of assigned functions for 26,588 genes in the
human genome based on similarity to proteins of known function
A Draft Sequence of the Neandertal Genome
Richard E. Green et al.
Science, 7 May 2010, vol. 328, pp.710-722
http://www.archaeologyinfo.com/homoneaderthalensis.htm
 Neandertals lived in Europe, Western Asia as far east
as Southern Siberia, as far south as the Middle East
 Neandertals came into contact with modern humans
in the Middle East from at least 80,000 years ago and
subsequently in Europe and Asia
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Lecture 5
Human gene counts from various databases
 morphological features typical of Neandertals first
appear in the European fossil record 400,000 ya
 more distinctive Neandertal forms subsequently
evolved until Neandertals disappeared from the fossil
record about 30,000 years ago
 Neanderthal DNA sequences and those of present-
day humans share common ancestors on average
about 800,000 ya
 the population split of Neanderthal and modern
human ancestors occurred 270,000 – 440,000 ya
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Human Evolutionary Genetics Lecture 5

 Neanderthals shared more genetic variants with present-day

humans in Eurasia than with present- day humans in sub-
Saharan Africa

 gene flow from Neanderthals into the ancestors of non-

Africans occurred to an extent that 1–4% of the genomes of
people outside Africa are derived from Neanderthals

 estimate of the Neanderthal contribution to the genomes of

modern humans: about 2% for non-Africans

(A) The three bones from Vindija from which Neandertal  Africans have no detectable Neanderthal ancestry
DNA was sequenced. (B) Map showing the four
archaeological sites from which bones were
used and their approximate dates (years B.P.)

Genetic history of an archaic hominin group

from Denisova Cave in Siberia  discovery of a second type of archaic hominin in Eurasia
David Reich et al.
 from a finger bone found in Denisova Cave in southern
Nature, 23/30 December 2010, vol. 468, pp.
Siberia
1053-1060
 dubbed the Denisovans, is known mainly from the genome
sequence of a single finger bone found in a cave in the Altai
Mountains in Siberia

 evidence for modest levels of gene flow into Denisovans of

sequence that is different from that of any known group,
implying that there is at least one more, so far undiscovered,
archaic-hominin group

 main Denisovan contribution to modern humans is

found in some populations in Oceania and, to a lesser
extent, in east Asians

 this population was not involved in the putative gene

flow from Neanderthals into Eurasians

 data suggest that it contributed 4–6%of its genetic

material to the genomes of present-day Melanesians

 Denisova gene flow occurred into the common

ancestors of New Guineans, Australians, and Mamanwa

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The bonobo genome compared with the chimpanzee

and human genomes

Kay Prufer et al.

Nature, 28 June 2012, vol. 486, pp. 527-531
 evidence for gene flow into Denisovans of
sequence that is different from that of any known
group

 implies that there is at least one more undiscovered

archaic-hominin group

The prosimians (lemurs, lorises, pottos, tarsiers)

Lemurs, lorises,
and pottos

ANCESTRAL Tarsiers
PRIMATE
New World monkeys
loris
Old World monkeys

Gibbons

Orangutans

Gorillas
Hominidae
(Great
Chimpanzees
and bonobos Apes)
Humans

60 50 40 30 20 10 0
Time (millions of years ago)

lemur tarsier
hominoids, hominids, hominins potto

The anthropoids (monkeys and apes)

(a) Gibbon
(b) Orangutan

(c) Gorilla

(d) Chimpanzees

(a) New World monkey (b) Old World monkey

(e) Bonobos

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chimpanzee (Pan troglodytes) bonobo (Pan paniscus)

West and Central Africa Democratic Republic of the Congo

 bonobo males are subordinate to females

and do not compete intensely for
 male chimpanzees use dominance rank
aggression to compete for
dominance rank and obtain sex  do not form alliances with one another

 they cooperate to defend their  no evidence of lethal aggression between

home range and attack other groups
groups
 bonobos are playful throughout their lives
and show intense sexual behaviour that
Geographical distribution of chimpanzees and bonobos serves non-conceptive functions

 DNA sequences in humans diverged from those in

bonobos and chimpanzees five to seven million years ago,

 DNA sequences in bonobos diverged from those in

chimpanzees around two million years ago

 chimpanzees experimentally infected with HIV virus do not

progress to full-blown cases

 Humans and chimpanzees differ in about 4.2% of their

genomes

 45 M bp of DNA in humans, not found in chimpanzees

 45 M bp of DNA present in chimpanzees, not found in

humans

 more than three per cent of the human genome is more

closely related to either the bonobo or the chimpanzee
genome than these are to each other

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