The Genetics and Politics of Human Skin Colour

• Johann Friedrich Blumenbach (1752 –1840) introduced one of the first race-based classifications in ‘On the
Natural Variety of Mankind’.
• Blumenbach’s five categories were: Caucasian, the white race; Mongolian, the yellow race; Malayan, the
brown race; Ethiopian, the black race; and American, the red race.
 • At the dawn of concept.
the 21st century,
the idea of race -
the belief that
the peoples of
the world can be
organized into
biologically
distinctive
groups, each with
their own
physical, social,
and intellectual
characteristics - is
understood by
most natural and
social scientists
Race types," from Maury’s New to be an unsound
Complete Geography, 1906
 Known Facts About Human Skin Colour

• Humans have a variety of skin colour ranging from pale white (almost pinkish)
to very dark brown.
Known Facts About Human Skin Colour
 Known Facts About Human Skin Colour
• The closest living cousins of humans are
chimpanzees. Because chimpanzees have changed
less over time than humans have (both in habit and
habitat), they can provide an idea of what human
anatomy and physiology must have been like.

• Chimpanzees’ skin is light in colour and is covered

by hair over most of their bodies.
 Known Facts About Human Skin Colour
• The earliest humans almost certainly had a light skin covered with
hair.
• Presumably, hair loss occurred first, then skin colour changed.
• When did we lose our hair?
• The daily activities of Lucy and other hominids that lived before about
three million years ago appear to have been similar to those of
primates living on the open savannas of Africa today.
• By 1.6 million years ago, however, we see evidence that this pattern
had begun to change dramatically. The famous skeleton of Turkana
Boy—which belonged to the species Homo ergaster—is that of a long-
legged, striding biped that probably walked long distances.
• These more active early humans faced the problem of staying cool
and protecting their brains from overheating.
 Known Facts About Human Skin Colour
• This protection was accomplished through an increase in the number
of sweat glands on the surface of the body and a reduction in the
covering of body hair.

• Once rid of most of their hair, early members of the genus Homo then
encountered the challenge of protecting their skin from the damaging
effects of sunlight, especially UV rays.

• After losing their hair as an adaptation for keeping cool, early

hominids gained pigmented skins.
 Known Facts About Human Skin Colour
• Geographers and anthropologists have long recognized that the distribution of
skin colours among indigenous populations is not random: darker peoples tend to
be found nearer the equator, lighter ones closer to the poles.
 Known Facts About Human Skin Colour
• Scientists initially thought that such pigmentation arose to protect
against skin-cancer-causing ultraviolet (UV) radiation.
• However, skin cancers tend to arise after reproductive age.
• An alternative theory suggests that dark skin might have evolved
primarily to protect against the breakdown of folate (folic acid/vitamin
B9), a nutrient essential for fertility and for foetal development.
• Skin that is too dark blocks the sunlight necessary for catalysing the
production of vitamin D, which is crucial for maternal and foetal bones.
• Accordingly, humans have evolved to be light enough to make sufficient
vitamin D yet dark enough to protect their stores of folate.
• As a result of recent human migrations, many people now live in areas
that receive more (or less) UV radiation than is appropriate for their skin
colour.
 Known Facts About Human Skin Colour
• Do exceptions prove the rule?
• The Inuit people live in Alaska and northern Canada.
• The Inuit exhibit skin colour that is somewhat darker than would be
predicted given the UV levels at their latitude.
• That is probably because they are relatively recent inhabitants of
these climes, having migrated to North America only roughly 5,000
years ago.
• The traditional diet of the Inuit is extremely high in foods containing
vitamin D, especially fish and marine mammals.
• This vitamin D–rich diet offsets the problem that they would
otherwise have with vitamin D synthesis in their skin at northern
latitudes and permits them to remain more darkly pigmented.
 The evolution of lactase persistence
• The digestion of lactose, the primary sugar present in milk, is catalysed by a
small-intestine enzyme called the lactase-phlorizin hydrolase (LPH) or lactase.
• In most mammals (including humans) the levels of lactase drops off after
weaning and adults are no longer able to digest lactose.
• In humans this is known as lactose intolerance.
• In populations where the mother is the only source of milk, lactase non-
persistence is a selectively advantageous trait. Since breast-feeding is a
potent, if imperfect, contraceptive that promotes amenorrhea (absence of
menstruation) and delays resumption of ovulation.
• However, a derived state has appeared among humans where lactase activity
persists even in adults.
 The evolution of lactase persistence
• During the most recent ice age, milk was essentially a toxin to adults because,
unlike children, they could not produce the lactase enzyme required to break
down lactose.

• But as farming started to replace hunting and gathering in the Middle East around
11,000 years ago, cattle herders learned how to reduce lactose in dairy products to
tolerable levels by fermenting milk to make cheese or yogurt. (Fermented cheeses
such as feta and cheddar have a small fraction of the lactose found in fresh milk;
aged hard cheeses similar to Parmesan have hardly any.)

• Several thousand years later, a genetic mutation spread through Europe that gave
people the ability to produce lactase, and drink milk, throughout their lives.

• That adaptation opened up a rich new source of nutrition that could have
sustained communities when harvests failed.
 The evolution of lactase persistence
• This trait is particularly common among populations that have practised dairying
as a form of subsistence.

• The highest frequency of lactase persistence is in Northern Europe (>90% in

Swedes and Danes) with decreasing frequencies across southern Europe and the
Middle East (about 50% in Spanish, French and Arab populations).

• It is also high among pastoralists like the Tutsi.

• It is lowest frequencies are among Native Americans and Pacific islanders as well
as South-East Asians ( 1% in Chinese).

• The lactase persistence is inherited in an autosomal dominant manner and maps

to the long arm of chromosome 2.
 The evolution of lactase persistence
• Two SNPs of this LPH gene perfectly correlates with Finnish and other
Northern European populations.

• One of these alleles have been found to be associated with a very

long haplotype consistent with a selective sweep over the past 7000
years.

• Lactase persistence is thus considered to be a gene-culture co-

adapted phenotype that has evolved independently at least twice in
human evolution.
• Studies indicate that lactose tolerance in Africans have independently evolved.
• The mutation(s) responsible for lactase persistence are different, but the effect is
the same.

• Neolithic humans in Africa experienced similar selective pressures to adopt pastoralism

and evolve lactase persistence.
• Through slightly different mutations, G-13915 and G-13907, different peoples in Kenya
and Sudan evolved lactase persistence via the same Oct1 transcription factor binding site.
• The Somali people of Ethiopia are an example of a modern culture
that have adopted a pastoralist way of life.

• They drink milk as adults, and yet have not evolved the lactase
persistence trait.

• How is it possible that adults regularly consume fresh milk from their
cows without the negative consequences?

• The answer is in their large intestines: individuals in this culture have

been found to posses unique colonic bacterial populations that
metabolize lactose in such a way that does not cause gastrointestinal
distress (Ingram, 2008).