Study
finds evidence of strong positive selection for skin, eye and hair pigmentation
over last 5,000 years.
Why do people living in the tropics
have dark skin whereas those living in higher latitudes have lighter skin? The
traditional explanation is that is an evolutionary balancing trick between
protection from skin cancer on one hand and the synthesis of Vitamin D by skin
cells on the other. Dark skin results from higher levels of the pigment
melanin: for those living nearer the equator, higher melanin levels provides a
better protection from the sun’s more intense UV radiation; conversely, for
those living at latitudes where UV radiation is weaker, the protection is not
required and high melanin levels would block the production of Vitamin D.
However, things may not be quite so
straightforward. A study carried out in 2012 at the University of Porto in
Portugal considered alleles (variants) of four genes known to be associated
with pigmentation, using samples taken from present-day Portuguese and
sub-Saharan Africans. The evolutionary history of the four genes was estimated
using a statistical model (Monte Carlo) to simulate the effects of genetic
drift, natural selection and mutation. It was found that three of the alleles
linked to lighter pigmentation did not start to sweep through European
populations until around 11,000 to 19,000 years ago – at least 40,000 years
after modern humans left Africa (Beleza, et al., 2012) .
Two recently-published studies have
investigated ancient DNA extracted from prehistoric human remains in Europe.
The first study, published in the journal Nature,
considered the pigment genes of DNA obtained from human remains found at the Mesolithic
cave site of La Braña-Arintero, near León, Spain. The remains were identified
as those of a male hunter-gatherer, who lived 7,000 years ago. He was found to
have been dark-skinned and blue-eyed. Although present-day Spaniards are
darker-skinned than northern Europeans, they are far paler than Africans (Olalde, et
al., 2014) .
The result again suggests that paler skin colour was a fairly late development.
The second study, published in the
journal PNAS, considered the pigment
genes TYR, HERC2 and SLC45A2. TYR produces the enzyme tyrosinase,
which is used as a catalyst in the production of melanin. HERC2 is responsible for determining eye colour; and SLC45A2 is involved in the distribution
and processing of tyrosinase and other pigment-producing enzymes. The various alleles
of these genes are responsible for different colours of skin, hair and eyes. Researchers
extracted ancient DNA from 63 Chalcolithic (6500 to 5000 years old) and Bronze
Age (5000 to 4000 years old) individuals from Ukrainian sites on the Pontic-Caspian
steppe. 43 individuals yielded DNA from which the pigment genes could be
sequenced, and these were compared with those of present-day Ukrainians.
The researchers found that the
pigmentation of the prehistoric population differed from that of the
present-day Ukrainians. The latter have 8.5 times as many alleles of TYR related to light skin colour as did
their prehistoric forbears. Alleles of HERC2
related to blue eye colour were also far more common in the present-day
population. However, none of these lighter pigmentation alleles are present in
African populations. Thus it seems that the shift to lighter pigmentation was
underway in the Chalcolithic and Bronze Ages, but it was at that stage
incomplete – despite the immense passage of time since modern humans had left
Africa. Computer simulations showed that these effects could not be explained
by genetic drift alone, and that natural selection must have been a factor (Wilde, et
al., 2014) .
The team speculated that selection
for lighter skin colour was related to the change in diet following the arrival
of agriculture. The diet of hunter-gatherers was more likely than that of the
farmers to include items rich in Vitamin D, such as fish and liver. To make up
the difference, individuals needed to be able to synthesise it more efficiently
– hence a lighter skin colour. At the same time, the trend to lighter hair and
eye colour may have been the result of sexual selection: the initially-unusual
colouring might have been more attractive to the opposite sex (the researchers
noted that this phenomenon has been documented in guppies).
References:
1. Beleza, S. et al., The
timing of pigmentation lightening in Europeans. Molecular Biology and
Evolution 30 (1), 24-35 (2012).
2. Olalde, I. et al.,
Derived immune and ancestral pigmentation alleles in a 7,000-year-old
Mesolithic European. Nature 507, 225-228 (2014).
3. Wilde, S. et al.,
Direct evidence for positive selection of skin, hair, and eye pigmentation in
Europeans during the last 5,000 y. PNAS (Early Edition) (2014).