There is a new paper on African skin pigmentation. This paper
was published in Science. Below is the abstract.
Nicholas G. Crawford et
al .( 2017). Loci associated with skin pigmentation identified in African
populations. http://science.sciencemag.org/content/358/6365/eaan8433.long
Abstract
Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians.
Despite the wide range of skin pigmentation in humans, little is known about its genetic basis in global populations. Examining ethnically diverse African genomes, we identify variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2 and HERC2 that are significantly associated with skin pigmentation. Genetic evidence indicates that the light pigmentation variant at SLC24A5 was introduced into East Africa by gene flow from non-Africans. At all other loci, variants associated with dark pigmentation in Africans are identical by descent in southern Asian and Australo-Melanesian populations. Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte-specific regulatory regions near DDB1/TMEM138 correlate with expression of UV response genes under selection in Eurasians.
Crawford et
al, 2017, claimed the research yielded the following results: 1) “The alleles associated with light pigmentation swept to
near fixation outside of Africa due to positive selection, and we show that
these lineages coalesce ~60 ka, corresponding with the time of migration of
modern humans out of Africa”; and 2) “The most significantly associated
single-nucleotide polymorphisms were at SLC24A5, a gene associated with
pigmentation in Europeans. We show that SLC24A5 was
introduced into East Africa >5 thousand years ago (ka) and has risen to
high frequency.”
The results of this research are invalid. First of all, we
know that Neanderthal and the first Europeans such as Bana man were dark
skinned (Winters,2014).
The archaeological and craniometric evidence indicates that
the pre-Indo-European people were probably highly pigmented (Winters,2014).
There have been numerous “Negroid skeletons” found in Europe according to Boule
and Vallois (1957). Diop (1991) discussed the Negroes of Europe in
Civilization or Barbarism (pp. 25-68). Also W.E. B. DuBois, The World and
Africa noted that “There was once a an “uninterrupted belt’ of Negro culture
from Central Europe to South Africa” (p. 88).
Boule and Vallois (1957) reported the find of SSA
skeletons at, Grotte des Enfants, Chamblandes in Switzerland, several Ligurian
and Lombard tombs of the Metal Ages have also yielded evidences of a Negroid
element.
Since the publication of Verneau’s memoir, discoveries of
other Negroid skeletons in Neolithic levels in Illyria and the Balkans have
been announced. The prehistoric statues, dating from the Copper Age, from
Sultan Selo in Bulgaria are also thought to protray Negroids (Boule
& Vallois, 1957).
In 1928 Rene Bailly found in one of the caverns of Moniat,
near Dinant in Belgium, a human skeleton of whose age it is difficult to be
certain, but seems definitely prehistoric. It is remarkable for its Negroid
characters, which give it a resemblance to the skeletons from both Grimaldi and
Asselar (Diop, 1991).
The ancestral alleles from La Bana and Luxemburg indicated that
they were dark skinned Europeans (Olalde
et al., 2014). This make it clear early Europeans were not pale skinned
as Tishkoff et al (2017) alleges. In Addition, Skoglund
et al. (2014) investigated the pigmentation of ancient Europeans
including skeletal remains from Ajvide 5, La Brana 1, and the Iceman. The
analysis by Skoglund et al. (2014)determined that the pigmentation
phenotype for these Europeans was dark skin.
The findings of Olalde et al, 2014 and Skoglund et al 2014
that the earliest Europeans were dark skin, disputes Crawford et al
(2017), suggestion that as early as 60ka , “The alleles associated with light
pigmentation swept to near fixation outside of Africa due to positive selection”.
This genetic evidence for dark pigmented ancient Europeans was supported by the
negro skeletons associated with ancient European sites (Boule
& Vallois, 1957).
Crawford et al
(2017) maintains that the SLC24A5 alleles was introduced into East Africa from
Europe 5kya. This probably did not happen because there is no archaeological
evidence of a back migration of Eurasians in Africa.
Secondly, Crawford et al
(2017) argues that SLC24A5 alleles were deposited in East Africa by Eurasians,
but this allele is found among African populations throughout Africa. The
pigmentation center is SLC24A5. The ancestral gene for
light skin rs1426L54 is “predominante” among sub-Saharan African (SSA)
populations (Canfield et al., 2014). The derived allele from this coding
polymerphism for light skin is A111T alleles (Canfield
et al., 2014). The A111T pigmentation haplotype indicate high frequencies
among “light skinned” populations in Europe and East Asia. The existence of the
ancestral gene for light skin rs1426L54 , makes it clear Eurasians did not have
to introduce SLC24A5 because Sub-saharan
Africans were already carrying the gene.
In conclusion, the findings of Crawford et al
(2017) are not supported either by archaeological or genetic evidence. As a
result, this paper is unreliable and invalid..
References:
Boule, M., & Vallois, H. V. (1957). Fossil Man. New
York: Dryden Press.
Canfield, V. A., Berg, A., Peckins, S. et al. (2014).
Molecular Phylogeography of a Human Autosomal Skin Color Locus under Natural
Selection. G3, 3, 2059-2067.
http://dx.doi.org/10.1534/g3.113.007484
http://dx.doi.org/10.1534/g3.113.007484
Diop, A. (1991). Civilization or Barbarism. Brooklyn, NY:
Lawrence Hill Books.
Olalde, I., Allentoft, M. E., Sanchez-Quinto, F., Santpere,
G., Chiang, C. W. K., DeGiorgio, M. et al. (2014). Derived Immune and Ancestral
Pigmentation Alleles in a 7,000-Year-Old Mesolithic European. Nature, 507,
225-228.
http://dx.doi.org/10.1038/nature12960
http://dx.doi.org/10.1038/nature12960
Winters, C. (2014). Were the First Europeans Pale or Dark
Skinned?. Advances in Anthropology, 4, 124-132. doi: 10.4236/aa.2014.43016.
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