Evolution

of human

Petr Heneberg

Lecture No. 4038

Born in 1809. Studied medicine in Edinburgh since 1825, but he quit the studies in the
second year and re-focused to science. He spent four months by assisting with the
research on marine invertebrates, then he studied the theology of nature (Henslow) and
catastrophic geology (Sedgwick) at the University of Cambridge. In December 1831, he
joined the Beagle expedition as the geologist and natural scientist…

- The origin of species from a common ancestor

- Branching phylogenetical trees
Timeline of the evolution

The origins of the evolution are

completely unclear. Possible
explanations can be provided by
extremophilous organisms.
 Extremophiles

Weaknesses of individual newly formed organisms could be solved by their dependence

on products of other organisms:
For example, microbial consorcia living near geysers are structured in a way that on the
surface there are photosynthetic bacteria, whereas the lower layers contain non-
photosynthetisizing bacteria. These layers support each other with various nutrients and
provide a shelter. Thus, the evolution could be cooperative.
 Extremophiles
Types of extremophiles: hyperthermophilous/psychrophilous (tolerant to high/low
temperatures), barophilous (high pressure), osmophilous (high osmolarity; e.g., carbs),
xerophilous (absence of water), anaerobic (do not need oxygen), microaerophilous
(survive only under low oxygen concentrations), endolithic (survive only in the rock and
caves), toxitolerant (survive high concentrations of toxins, e.g., benzene or the
irradiation inside nuclear poweplants)
They can survive 113-200°C, -15°C, pH <0 or >11, 30% of salt, 1200 atmospheres, 0%
of oxygen, 20-40 milion years of dormancy, 2.5 years in the space, etc.
Example: Deinococcus radiodurans –
survives extreme irradiation, up to 40 000
Gy (10 Gy is 100% lethal for humans),
genotoxic chemicals, oxidative damage,
UV irradiation and dehydration – it is
equipped with multiple copies of DNA in
each cell (4-10 copies of the chromosome
as compared to just one copy in most
bacteria), high activity of reparation
enzymes (e.g., RecA); it stops the cell
growth during the reparation in order to
keep the destructed DNA onsite.
Three billion years ago…
…cyanobacteria evolved
 Three billion years ago…
…cyanobacteria evolved

- First photosynthetizing bacteria evolved 3.5 billion years ago. However, they were
unable to produce oxygen despite they used the photosynthesis to produce ATP.
- First oxygen-producing organisms were cyanobacteria; they evolved 3 billion years
ago.
- 2.5 billion years ago, there evolved the first aerobic bacteria.
- 2.1 billion years ago, there evolved the first first Eukaryota.
- All this happened in the Precambrian era (Archean, Proterozoic) – i.e.,
between the Earth formation to the onset of multicellularity 542 million years ago.
 1.1 billion years ago…
… sexual reproduction evolved
 1.1 billion years ago…
… sexual reproduction evolved

Not just the white-throated sparrow…

Parthenogenesis due to Wolbachia
infection
Slime molds: 13 sexes (defined by the type
of mitochondria)
Up to 36 000 sexes per species (e.g., the
mushroom Schizophyllum)
 1 billion years ago…
…multicellularity evolved
 Last ≤500 millions of years…
… interconnected continents, fungi, plants, animals, mammals, primates
• Paleozoic era
– 500 mil. years ago – plants, fungi, animals colonize the continents (but flowering plants – angiosperms
– evolved just 130 mil. years ago)
– Pangaea, the supercontinent (late Paleozoic, early Mesozoic, e.g., 335-175 mil. years ago)
• Mezozoic era
– ~250 mil. years ago – first mammals
– Dinosaurs evolved ~232-234 mil. years ago (Trias), and became extinct 66 mil. years ago at the end
of Cretaceous
• Cenozoic era (after the extinction of dinosaurs; started 66 mil. years ago)
– Massive branching of mammals, particularly since 50 mil. years ago until today
– In Paleocene (66-56 mil) and early Eocene (56-47.8 mil), there were no animals over 10 kg of weight at
any of the continents
– 5-7 mil. years ago – first humans evolved Percentage of extinct species

Mya
Timeline of human evolution
Timeline of human evolution

Humans (Homo spp.)

Pre-human primates
(Australopithecus spp.,
Kenyanthropus platyops)
Timeline of human evolution
Timeline of human evolution
20-35 mil. years – first hominoids (this term
also includes todays` orangutans and gorillas);
later, the hominoids split to hominids
and gibbons
5-7 mil. years – humans (Hominini) split
from other apes and apes split from other
primates
4 mil. years – first Australopithecus spp.
2,4 mil. years – Homo habilis
1,9 mil. years – Homo ergaster
1,8 mil. years (maybe later) – Homo erectus
0,6 mil. years to 0,04 mil. years – Homo
neanderthalensis
≥0,315 mil. years– Homo sapiens
 Timeline of human evolution
Intermediate theory – both events contributed
to the resulting populations – the migration
out of Africa as well as a genetic contribution
of non-African ethniques and species.

In Europe, the genetic contribution of other

species (e.g., Homo neanderthalensis) is low,
but it seems to be higher in some Asian
populations.

100-200 000 1-2 million

years ago years ago

Jebel Irhoud, Morocco – first known H. sapiens

 Upper jaw

Comparison of upper jaws of the chimp (left), A. afarensis (middle) and human (right)
Incisors

Canine
Premolars

Molars

chimpanzee A. afarensis H. sapiens

Neurocranium size

Australopithecus: 400-500 cm3

Homo habilis: 700 cm3

Homo erectus: 1000 cm3

Homo sapiens
(100-40 000 years ago) 1000 cm3

Homo sapiens
(in Holocene) 1300 cm3
 Upright walking

Human skeletal adaptations to upright walking:

- Curvature of the spine
- Foramen magnum located underneath the skull
rather than toward the back as in apes Knees:
- Pelvis shaped like a bowl to support the organs
and changed in angle H. sapiens A. afarensis Apes
- Hip angle change and is angle in (knock knees)
- Opposable thumb, the foot thus provide a better
platform for running
Karyotype of human and chimp
2n = 46 vs 48
 Characters shared
by humans and other primates
- Opposable digits (excellent grasp by thumb
and forefinger)

- Nails protect top of delicate fingers, which have

sensitive fleshy pads on the reverse side

- Long slender limbs suited to climbing

and treetop mobility

- Stereoscopic vision needed to climb

and capture food

- Excellent hearing

- Large brain

- Social behavior, frequent cooperation in groups

- Long life span

- Females bear usually one baby;

long gestation and long post parturition
nurturing and protection
 Characters distinguishing
humans from other primates
- Mouth development (the jaw is shortened and
regressed, which leads to the flattening of the face
and prominence of the chin;
change of dentition

- Neurocranium size (Australopithecus 400 cm3,

Homo sapiens 1300 cm3)

- Bipedalism used for hunting and walking,

which projects in skeleton changes

- Fire (since H. erectus)

- Tools (H. habilis, H. erectus, H. heidelbergensis, H.

sapiens)

- Built shelters (H. heidelbergensis)

- Clothing (H. neanderthalensis)

- Language (H. neanderthalensis)

- Decrease of the gender weight differences (gorilla male is 2× heavier than its female; in humans only by 20%)

- Changes in a social life (facultative and/or sequential, less frequently obligate, monogamy – prolongation of
the period of learning and development of complicated behavioral patterns).
 Correction
of common misconceptions
- Our ancestors were not chimpanzees or any other modern apes

- Chimpanzees and humans represent two divergent branches

of the hominoid tree that evolved from a common ancestor,
which was neither a chimpanzee nor a human

- Evolution of human did not occur as a ladder with a series of steps leading
directly from an ancestral hominiod to Homo sapiens

- Many species can be considered as dead ends

- Many human species co-existed in a space and time
- Human phylogeny resembles a multi-branched tree with our
species representing the only surviving twig

- Various human characteristics, such as upright posture or enlarged brain, did

not evolve in unison

- Different characteristics evolved at different rates, which is

termed the mosaic evolution
- Our pedigree includes ancestors, who walked upright but had
brains buch less developed than ours
Endosymbiotic theory
 Endosymbiotic theory
The endosymbiotic hypothesis of the mitochondria
origin suggests that mitochondria were originally
prokaryotic cells, capable of implementing oxidative
mechanisms that were not possible for eukaryotic
cells; they became endosymbionts living inside
the eukaryote.

In general, mitochondrial DNA lacks introns or only

a few introns are present. It suggests its prokaryotic
origin.

In animals and humans, the mitochondrial genome

is typically a single circular chromosome that
is approximately 16 kb long and has 37 genes.

The prokaryotic origin of mitochondria results

in the presence of alternative genetic code
(e.g., ADA and AGG code for arginine in the nucleus
but for a stop codon in mitochondria).
Divergence of mitochondrial DNA
Divergence of mitochondrial DNA
Divergence of mitochondrial DNA
• The study by Tishkoff et al.
2009 (Science) – the
revolution in our view
of a diversity of human
populations – the analysis
of 113 African populations
and representatives
of indigenous people
all across the globe

• Greater genetic diversity

of African populations

• Uniformity of Eurasian
and American populations

• There is much more

diversity hidden
in Subsaharan Africa than
in the rest of the world

• Differences in DNA
diversity based on the Y
chromosome (Bulgaria)
 Evolution of human microbiome

The gut-associated microbiome of humans is changing

in relation to whether the particular person is born and lives
in Estonia or Netherlands.

Evolution of drug resistance of bacteria living in human gut is

dependent on whether the particular person was (or is) treated
with antibiotics.

Horizontal gene transfer can appear between the bacteria

associated with human gut, thus this can give rise
to bacteria multiresistant to antibiotics.
 Evolution of human genome

Over an estimated human genome length close to 3 billion nucleotides, the rate of single-nucleotide substitution
between human and chimpanzee is equal to 1.23%. Because 1.06% of these changes appear to be fixed
between species, the remaining 0.17% represents the fraction of the human genome occupied by single
nucleotide polymorphisms (SNPs).

With an estimated 70 loci affecting human skin pigmentation, and different metabolic pathways leading to the
production of the two main pigments, eumelanin and pheomelanin, skin phenotypes present challenges that are
characteristic for all complex traits. The basic color depends on the proportion of the two main pigments, the size
of melanosomes, and their location in the epidermis. Melanin protects against excess UVR, but it prevents
vitamin D synthesis when UVR is low.
 Evolution
is not limited to genomes
 Evolution
is not limited to genomes

• Cultural evolution – The first stage was represented by nomadic hunters and gatherers in African forest-
steppes 2 million years ago. They made tools, organized common activities and distributed work
• The second stage occurred with the development of agriculture in Africa, Eurasia and America ~10-15,000
years ago. Together with agriculture, permanent settlement and first cities were founded..
• The third stage was the industrial revolution that started in 18th century.
– Throughout the cultural evolution, we did not change biologically in any important way.
– Our know-how is not preserved in our genes but in memes, which are transmitted through parents,
teachers, books, or electronically.
Thank you for your attention 
[email protected]
 Laboratory of molecular biology of glycolysis

is looking for enthusiastic and motivated students, who would like

to address the issue of cancer metabolism using gene and protein engineering
(CRISPR/Cas9, Sleeping Beauty transposons). The laboratory cooperates closely
with the European Molecular Biology Laboratory in Heidelberg.

We offer career development support to excellent students,

funding to present results at foreign conferences,
and support for conducting the internships/fellowships abroad.

If interested, please contact us via email:

Ing. Daniela Šimčíková ([email protected])
RNDr. Petr Heneberg, Ph.D. ([email protected])
2nd Clinics of Internal Medicine (building X)