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Melanocortin 1 Receptor Gene Mutation

Kyra A. Hoover

DuBois Area High School

Honors Biochemistry

Mr. Keith

March 9, 2020

Abstract
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Red hair is a recessive genetic trait that makes up a small portion of the population. The mutation

of the melanocortin 1 receptor gene is the cause of the fair skin and red hair color combination.

The melanocytes create the two types of melanin, eumelanin and pheomelanin. Resulting from

the mutation of the melanocortin 1 receptor gene, redheads produce an excessive amount of

pheomelanin, which is the cause of their traits. This gene also affects the skin’s ability to protect

itself from the harmful radiation from the sun, increasing the chance of an individual to develop

skin cancer. Other diseases that have a higher risk of developing in a person with the mutation

are endometriosis and Parkinson’s Disease. Redheads have a different pain tolerance from other

individuals, leading to requiring more anesthesia during procedures.

Keywords: chromosome 16, melanocortin 1 receptor gene, melanocytes, melanin,

eumelanin, pheomelanin, skin cancer, endometriosis, Parkinson’s Disease

Melanocortin 1 Receptor Gene Mutation

Redheads make up a small portion of the human population at roughly 2% of all people.

The gene related to red hair, sometimes called the ginger gene, is the melanocortin 1 receptor

gene. The genetic mutation of the melanocortin 1 receptor gene influences the pigmentation of

the hair and skin and there are varied effects and multiple health risks that are associated with

having this certain gene mutation.

Chromosome 16 makes up an estimated 3% of all deoxyribonucleic acid, DNA, in human

cells (“Chromosome 16”). It contains the instructions to control protein production, which

influences most functions that occur in the human body (Kugler, 2019). This specific

chromosome has between 800 to 900 genes that are used to produce the necessary proteins to

live (“Chromosome 16”). The melanocortin 1 receptor gene, MC1R gene, is one of the many

genes located on chromosome 16. It is specifically located at the end of the long arm of the

chromosome at the cytogenetic location of 16q24.3 (See Appendix A) (Wilders, 1970).

The MC1R gene instructs the making of the melanocortin 1 receptor protein (“MC1R

gene”). The receptor protein has a significant role in the pigmentation of skin and hair in all

people (“MC1R gene”). The melanocortin 1 receptor is found on the exterior of melanocytes

(“MC1R gene”). The purpose of melanocytes, which are primarily found in the epidermis of the

skin and also in the matrix of the hair, is to produce melanin (Tsatmali, 2002). Melanin is “the

pigment that gives human skin, hair, and eyes their color” (Jr., 2018). There are two types of

melanin created, eumelanin and pheomelanin (“MC1R gene”). Eumelanin is a dark pigment,

associated with having darker skin and hair, while pheomelanin is closely related to having

lighter features, which includes the combination of fair skin and red hair (See Appendix B)

(“MC1R gene”). Most people have a regular, almost even ratio of eumelanin to pheomelanin.

The melanocortin 1 receptor decides which of the two pigments is to be created by the
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melanocytes (“MC1R gene”). During activation of the receptor, melanocytes create chemical

reactions to make eumelanin, the pigment with dark color association (“MC1R gene”).

Correspondingly, pheomelanin is created when the receptor is not activated or has been

interfered with otherwise (“MC1R gene”).

Mutations and genetic conditions are relatively common in chromosome 16, one of them

being the melanocortin 1 receptor gene mutation, which is associated with red hair (Kugler,

2019). The melanocortin 1 receptor mutation causes the activation of the receptor, which would

create solely eumelanin, to be primarily blocked, resulting in nearly all pheomelanin with very

little eumelanin levels. This results in a person having light skin and little pigmentation in the

hair as well, such as red hair. Freckles, which are commonly associated with having the ginger

gene, are areas of a higher concentration of produced melanin in the skin, which would not

appear as well on an individual with a regular amount of both eumelanin and pheomelanin (Jr.,

2018).

There is a very recent study that has proposed that red hair is not only linked to the

melanocortin 1 receptor gene. The study claims that there have been “eight genes linked to red

hair” that have been discovered (“Hair Color”). Red hair is a recessive gene, requiring both

parents to carry the gene in order for the offspring to have the trait. This new study also claims

“not everyone carrying two red-haired versions [of the MC1R gene] is a red head”, indicating

some people may have the genetic makeup of a redhead, however it is not represented in their

skin or hair. (“Hair Color”). This is a very recent study from 2018, therefore none of the findings

are conclusive and the topic needs to be studied further.

The melanocortin 1 receptor gene mutation has a substantial effect on people’s lives who

have the mutation. Pheomelanin reduces the possibility of tanning, therefore redheads tend to
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live farther north than people with other hair colors to avoid the equator, where the ultraviolet

radiation from the sun is at its highest. There is some controversy on the discussion over how the

natural hair color of a person can dictate how the person may live their life (Kilcoyne, 2017). In

social science, there was a German study done that claims that females with the red hair mutation

“attract more attention, age slower, and radiate an image of vitality and zest” (Kilcoyne, 2017).

Due to the different pigmentation in red hair, those with the mutation will never have gray hair, it

will turn blonde before going to white. Likewise, individuals with red hair “tend to hold on to

their hair pigment longer” when compared to individuals with darker hair colors (Kilcoyne,

2017).

Due to the mutation in the MC1R gene mutation, the people affected by it are at an

increased risk for certain diseases, such as cancer, compared to others who are not affected.

Studies have shown that the same mutation that causes red hair also “sets up skin cells for an

increased risk of cancer”, specifically skin cancer, after being exposed to ultraviolet radiation

from the sun (“5 Health”). Redheads have an increased amount of pheomelanin, which can not

“protect the skin from UV radiation”, compared to an average person (“MC1R gene”). This

heightens the susceptibility to becoming sunburnt, so redheads must take extra precaution when

exposed to the sun to combat increasing the chances of developing skin cancer.

Women with the melanocortin 1 receptor mutation may develop endometriosis due to the

gene mutation (“5 Health”). Endometriosis is the disorder in which endometrium, which is the

tissue that is the lining of the uterus, develops on the exterior of the uterus (“Endometriosis”). A

scientific study on endometriosis from 2006 found women who are fertile and possess the

mutation are “30 percent more likely to develop endometriosis” than those without the MC1R

gene mutation (“5 Health”).

Parkinson’s disease is more likely, just about two times more of a risk, to develop in

redheads than those with other darker hair colors (“5 Health”). Parkinson’s is a nervous system

disease that impacts the movement of a patient (“Parkinson’s Disease”). As redheads become

older, the melanocortin 1 receptor gene “limits the amount of dopamine released into certain

parts of the brain” (De Graaf, 2017). This is detrimental to the possibility of a person having

Parkinson’s disease when they age.

Along with those diseases, individuals affected by the mutation are more susceptible to

certain things that others without the mutation do not necessarily have to worry about.

Commonly, redheads have a lower pain tolerance than the average person, including having

more sensibility to increased and decreased temperatures of their surroundings (“5 Health”).

This is because the melanocortin 1 receptor gene is closely related to other receptors in the body

that are associated with pain perception (“5 Health”). Redheads also require an increased amount

of anesthesia when undergoing a surgical procedure because of the different pain tolerance than

an average patient undergoing the same procedure. Anesthesiologists state those with red hair

“need 20 percent more lidocaine to anesthetize their pain” (Kilcoyne, 2017).

While red hair may be viewed as just another hair color, such as black, brown, or blonde,

it comes with many more side effects than one might think. Since the red hair trait is linked to an

individual’s genetic makeup in the melanocortin 1 receptor gene, their hair color affects almost

every aspect of their everyday life and it may be the cause of developing cancer or other harmful

diseases in the future. While the research about the MC1R gene is not yet complete, there may be

more effects to be discovered and possibly a few positive scientific reasons that having this gene

mutation may be beneficial.

References

23andMe. (n.d.). Red Hair & Genetics. Retrieved from

https://www.23andme.com/topics/traits/red-hair/

5 Health Risks of Being a Redhead. (n.d.). Retrieved from

https://www.livescience.com/39095-redhead-health-risks.html

Chromosome 16 - Genetics Home Reference - NIH. (n.d.). Retrieved from

https://ghr.nlm.nih.gov/chromosome/16
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De Graaf, Mia. (2017, March 4). Redheads are more likely to develop Parkinson's.

Retrieved from https://www.dailymail.co.uk/health/article-4279234/Redheads-likely-

develop-Parkinson-s.html

Endometriosis. (2019, October 16). Retrieved from https://www.mayoclinic.org/diseases-

conditions/endometriosis/symptoms-causes/syc-20354656#:~:text=Endometriosis (en-

doe-me,endometrium — grows outside your uterus.

Hair color gene study sheds new light on roots of redheads' locks. (2018, December 10).

Retrieved from https://www.sciencedaily.com/releases/2018/12/181210101930.htm

Jr., W. C. S. (2018, December 12). Definition of Melanin. Retrieved from

https://www.medicinenet.com/script/main/art.asp?articlekey=4340

Kilcoyne, C. (2017, April 13). Dr. Peter Nieman: Red-haired people face unique health

issues. Retrieved from https://calgaryherald.com/health/family-child/dr-peter-nieman-

red-haired-people-face-unique-health-issues

Kugler, M. (2019, November 13). How Changes to Chromosome 16 Can Impact Health

and Development. Retrieved from https://www.verywellhealth.com/chromosome-16-

disorders-2860706

MC1R gene - Genetics Home Reference - NIH. (n.d.). Retrieved from

https://ghr.nlm.nih.gov/gene/MC1R

Parkinson's disease. (2018, June 30). Retrieved from

https://www.mayoclinic.org/diseases-conditions/parkinsons-disease/symptoms-

causes/syc-20376055
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Tsatmali, M., Ancans, J., & Thody, A. J. (2002, February). Melanocyte function and its

control by melanocortin peptides. Retrieved from

https://www.ncbi.nlm.nih.gov/pubmed/11799132

Wilders, G. (1970, January 1). The Genetics of Red Hair. Retrieved from

http://www.punnettssquare.com/2013/11/the-genetics-of-red-hair_26.html

Appendix A

This demonstrates the cytogenetic location, 16q24.3, of the melanocortin 1 receptor gene on

chromosome 16. This chromosome is the ground for the MC1R gene mutation including many

other gene mutations as well.

(Wilders, 1970)
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Appendix B

This demonstrates what color of pigmentation occurs from each type of melanin. Eumelanin

results in darker pigmentation meanwhile pheomelanin results in the pigmentation for red hair.

(“23andme”)