Reassessment of Genetic Underpinnings of Skin Pigmentation and Ethnic Ancestry

by Santiago Fernandez
7 comments
Genetic Origins of Skin Pigmentation

Researchers in genetics have undertaken a study to delve into the origins of skin color variations across different ethnic groups. The study finds that genes related to East Asian and Native American ancestry, rather than European ancestry, are responsible for the lighter skin tones in these populations. This new understanding has significant implications not only for the field of genetics but also for the prevention and treatment of certain types of skin cancer, particularly as Europeans with similar skin tones face higher rates of melanoma.

This breakthrough could impact strategies for skin cancer prevention.

A group of geneticists from Penn State University is investigating an enduring question of human biology, namely, the genetic determinants of skin color variations among individuals from diverse ethnic backgrounds. According to a paper recently published in the eLife journal, the relationship between skin pigmentation and ethnicity is more intricate than previously thought.

The scientists confirmed that the lighter skin of individuals with East Asian and Native American origins is attributed to genes specific to these ethnicities, rather than the genes responsible for lighter skin in Europeans. This understanding has wide-reaching implications for genetic research, especially concerning the prevention and treatment of certain skin cancers, according to the team.

Keith C. Cheng, the co-corresponding author and a distinguished professor in various fields at Penn State, said, “We are one step closer to understanding our origins, the molecular mechanisms behind color changes, and the higher susceptibility of Europeans to sun-induced melanoma.”

The team gained valuable insights from the genome of a small population in the Commonwealth of Dominica, particularly the Kalinago people, who have the least European ancestry among any Native American group in the Caribbean. Cheng had initiated contact with the tribe 15 years ago, after identifying the gene that causes lighter skin in Europeans. Financial support for the research was initially provided by the National Institutes of Health in 2009.

The key question was to understand why Europeans, despite having skin tones similar to East Asians and Native Americans, are considerably more susceptible to melanoma. The science, according to assistant professor Khai C. Ang, also at Penn State, lies in the evolutionary branches that diverged as humans migrated from Africa. These branches adapted to different geographic and climatic conditions, impacting melanin production and, by extension, skin color.

The study involved long-term collaboration with the Kalinago people and multiple data collection trips to Dominica, led by Ang. The team collected samples and measurements from around 458 individuals, approximately 15% of the Kalinago population. The genetic analysis revealed that the Kalinago have more Native American ancestry—about 55%—and less European ancestry—around 12%—than any other Caribbean population. About 32% of their ancestry is African.

The research opens new avenues for understanding the real genetic factors responsible for the lighter skin of Native Americans and East Asians, as the genes previously thought to be responsible were ruled out in this study.

The research was supported by various institutions, including the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the Cheng Family, Penn State College of Medicine’s Jake Gittlen Laboratories for Cancer Research and Department of Pathology, among others.

Reference: “Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population” by Khai C Ang et al., published on 9 June 2023 in eLife.
DOI: doi:10.7554/eLife.77514

Frequently Asked Questions (FAQs) about Genetic Origins of Skin Pigmentation

What is the main finding of the Penn State geneticists’ research?

The primary discovery is that the genes responsible for lighter skin tones in people of East Asian and Native American descent are different from those affecting lighter skin tones in people of European ancestry. The study suggests that understanding these genetic differences could have broad implications for research, particularly in the prevention or treatment of certain skin cancers.

Who were the subjects of this research?

The study focused on the Kalinago people, a community living on the Commonwealth of Dominica, who have the least European ancestry of any Native American population in the Caribbean.

What does this research imply for skin cancer prevention?

The research may offer new avenues for preventing or treating certain types of skin cancer. Europeans with lighter skin tones have higher rates of melanoma, but this research suggests that East Asians and Native Americans with similar skin tones don’t share the same risk. Understanding the genetic differences could lead to targeted prevention or treatment strategies.

How long did the research take?

The Penn State researchers spent 15 years working with the Kalinago people to gather data and understand the genetics underpinning skin tone in populations without significant European ancestry.

What methods were used in data collection?

Data were collected primarily through saliva samples and skin shade measurements using a reflectometry device. The team collected measurements and samples from 458 people, or about 15% of the Kalinago population.

Why did the researchers choose to work with the Kalinago people?

The Kalinago people were chosen because they have little European ancestry, making them a suitable population to study the origins of lighter skin pigmentation that is likely to have come from shared ancestors in East Asia.

What are the broader implications of this research?

The study challenges previous assumptions about the genetic origins of skin pigmentation and its correlation with ethnicity. It paves the way for further research into the genetic factors that influence skin color, which could have wide-reaching implications, especially in medical research related to skin cancer.

How was the research funded?

The study was funded by multiple sources, including the National Institutes of Health’s National Institute of Arthritis and Musculoskeletal and Skin Diseases, the Cheng Family, the Penn State College of Medicine’s Jake Gittlen Laboratories for Cancer Research and Department of Pathology, the Hershey Rotary Club, and Microryza.

More about Genetic Origins of Skin Pigmentation

  • Penn State University Official Press Release
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases
  • Jake Gittlen Laboratories for Cancer Research
  • Microryza Research Funding Platform
  • Hershey Rotary Club Official Website
  • Study Published in Journal of Investigative Dermatology
  • National Institutes of Health Funding Database

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7 comments

HealthNut October 28, 2023 - 3:55 am

I hope this research leads to somethin concrete. So many people need relief from this condition.

Reply
TechSavvy October 28, 2023 - 8:38 am

So, they’re gonna use AI in studying psoriasis huh. The future is now.

Reply
JennyQ October 28, 2023 - 9:25 am

thats great news for people suffering from psoriasis. kudos to the team for securing the grant.

Reply
VicPolitic October 28, 2023 - 9:54 am

Who says we don’t need more funding in science? this is where the money should go.

Reply
GreenEarth October 28, 2023 - 5:18 pm

Hope they consider the environmental impact of their research too. Just sayin.

Reply
SarahInFinance October 28, 2023 - 10:12 pm

its cool to see private and public sectors comin together for health research. Makes me optimistic.

Reply
MikeD82 October 28, 2023 - 11:10 pm

Wow, I didnt know psoriasis could be such a big deal. 2 mil? Thats insane.

Reply

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