"Adaptation of Human Skin Color in Various Population"

by Lian Deng and Shuhua Xu (2017)

Summarized by:

Borromeo, Kristine Joy P.

Britanico, Maybelline T.

De Guzman, Ma. Kristina A.

Macasling, Therese Mae T.

Manalad, Jhonea L.

Montebon, Mae D.

Quiamas, Kristine Zhanne G.

Raquiza, Ashly M.

Prof. Jessica Francisco

BSP 2D
 Introduction

Humans, originating from Africa 100,000 years ago, have evolved across continents.

During migration, selective pressures in local environments and random drift developed

population-specific genetic variants and variable phenotypes like lactose tolerance, height,

immune system, and metabolic efficiency. The article reviewed skin color adaptation cases in

modern humans and archaic hominins, revealing similarities and differences across populations

and providing insights into human evolutionary history. Skin color variation is a significant

aspect of human phenotypic diversity, primarily influenced by melanin, a pigmentation in the

epidermis. Melanin, produced by melanocytes, has two forms: pheomelanin (yellow-reddish)

accumulated more in the light-complexioned people, and eumelanin (black-brown) was

prominent more in the dark-complexioned people. Other factors like keratin also contribute to

skin color.

Describing an in-depth understanding of regional skin color adaptation in humans would

be challenging. It would include the genes identified to be under selection and the extent to

which these genes could explain phenotypic variation, gene interactions, joint effects, and how

genes react to external environments. Skin color is mainly affected by latitude and UV radiation

distribution, with darker skin in populations closer to the equator for UV protection and lighter

skin on higher for vitamin D photosynthesis. Although these factors are considered significant in

the evolution of human skin colors, understanding the precise genetic process of selection would

be beneficial for reconstructing human evolutionary history and understanding the

microevolution of adaptive traits. For instance, specific genes, proteins, and alleles play
significant roles in the pigmentations adapted by different races, such as modern Eurasians, East

Asians, and Africans, including mixed and aboriginal populations.

Definition of terms

To enable the understanding of this study, different terms are defined herein.

Alleles are various variants of a gene that differ based on the nucleotide base present at a

certain genomic site.

Phenotype refers to an observable trait of an organism, ranging from common traits like

height or hair color. It acts to connect specific variations in the DNA sequence to characteristics.

It is equally, or even sometimes more greatly influenced by environmental effects than genetic

effects.

Locus (pl. loci) is a physical spot or location inside a genome (such as a gene or another

DNA section of interest), similar to a street address.

Objectives

1. To investigate current knowledge on the genetics of different skin tones.

2. To assess various cases of skin color adaptation.

3. To demonstrate differences in populations' adaptation to skin color.

Population

This study was participated by different nationalities from Africa, Europe, and Asian

countries. Eurasians are represented by rs1881227 in KITLG (kit-ligand), and those

independently evolved in Europeans and East Asians, indicating possible convergent evolution,

are represented by rs12913832 in OCA2 and rs885479 in MC1R, respectively.

Results and Discussion

 The table above summarizes candidate genes for human adaptation to pigmentation in

European and East Asian populations.

In Europeans, SLC24A5 and SLC45A2 are two golden genes related to the evolution of

light skin color. The skin color genes are SLC24A5, GRM5-TYR, APBA2 (OCA2), and

SLC45A2. The APBA 2 and ASIP candidates controlled typical variance in human skin color,

and ASIP exhibited the strongest correlation with fairer skin and eye color. In addition, five other

known genes (HERC2, TPCN2, SLC24A4, IRF4, and KITLG) provided genome-wide

significant hits for blond, brown, and light versus dark hair color; MC1R also related to hair

color. Furthermore, the TYRP1 gene variations are a known skin/hair/eye pigmentation variation
locus. Also, the interactions between HERC2 and SLC24A4 influence blue eye color, light hair

color, and tanning ability. In addition, SLC24A4 possesses sun sensitivity.

In the given data, the leading population in the table indicates the derived allele is

associated with pigmentation in European populations. East Asians, on the other hand, make up a

smaller demographic than Europeans. Furthermore, several genes and SNPs are shared by East

Asian and European populations.

Critical Points

Many studies of human skin pigment adaptation are based on the theory that people

closer to the equator have darker skin to protect from UV radiation of the sun. Depigmentation

sweep was estimated to approximately 30,000 years ago, right after the “Out- of Africa”

migration.

Skin color is a complex trait that could not be simply explained by a single gene or

variant; rather, is likely to involve a huge network of genes and phenotypes. For example, The

Inuit people, in far Northeastern Asia and the American Subarctic, have yellowish-brown skin

despite the far northern latitude at which they live, unlike other populations living at the same

latitude, such as the Swedes and Finnish. This makes the Inuit population an exception of the

latitude-correlated distribution of skin color. One possible reason is that the dark skin could

protect the Inuit’s from the severe UV exposure because of the long daylight hours in winter and

high levels of UV reflection from the snow.

One possible motivation of the skin depigmentation in prehistoric Eurasia is

agriculturalization, which led to a switch from vitamin D-rich hunter-gatherer diet to a vitamin
D-poor agriculturalist diet, together with the increased danger of folic acid deficiency at higher

latitudes.

Conclusion

Overall, considering this, the genes and environment interact in skin tone. This

environment consists of physical, social, and cultural elements. In modern society, historical

events resulted in social norms directly suggesting that lighter skin color is supreme while darker

skin color is lower in societal value. With this, people would prefer to interfere with their natural

skin color by continuously applying cosmetics to alter their skin color, taking advantage of their

skin's adaptability. Some people want to marry into families with lighter complexion to change

their children's DNA.

Therefore, because of gene tracing, features such as height and skin color are shown to be

controlled by the environment. In future studies, not only can skin color be traced, but also

diseases and illnesses. This work could pave the way for future research into how genes can

cause illness, such as depression, and how they can be modified by environmental modification.

It should mention the need to deconstruct the genetic architecture of skin color adaptation

in various ethnic minority groups in different countries, along with when compared to significant

continental populations, which is mainly unknown, and to discover the precise genetic

underpinning of skin color adaptability.

References

Deng, L. X. (2017, June 15). Adaptation of human skin color in various populations. Retrieved

from BMC: https://doi.org/10.1186/s41065-017-0036-2

Ellen Sidransky, M. (2023, September 14). Locus. Retrieved from National HUman Genome

Research Institute: https://www.genome.gov/genetics-glossary/Locus

Gleichmann, N. (2020, March 9). Gene vs Allele: Definition, Difference and Comparison.

Retrieved from Technology Networks:

https://www.technologynetworks.com/neuroscience/articles/gene-vs-allele-definition-

difference-and-comparison

Phenotype. (2023, September 14). Retrieved from National Human Genome:

https://www.genome.gov/genetics-glossary/Phenotype