Did you know that freckles are also called angel’s kisses?
Of course, we can’t conclusively say an angel hasn’t kissed you, but if you have freckles, it’s more likely that they come from traits you inherited from one or both of your parents. Freckles also become more prominent when your skin is exposed to the sun for extended periods.
Freckles are clusters of melanin, a pigment protein that helps shield skin from ultraviolet light damage. When you tan after a day in the sun, that’s your skin producing protective melanin. This occurs because the melanocytes – the cells that make pigment – are evenly distributed.
However, if you have freckle genes, the melanocytes in your skin aren’t spread evenly. This uneven distribution results in dots and patches of darker pigment throughout the skin while the surrounding skin remains pale.
Freckles tend to appear on parts of the body that have the most sun exposure. If you have freckles, they probably appear across your nose and on your shoulders in the summertime. Most people find that their freckles become less prominent as they age.
So, why do some people have freckles, and others don't? Where do freckles really come from?
Numerous traits contribute to the development of freckles. While we don’t know the full constellation of genetic factors that cause freckles, there is abundant research surrounding freckles ancestry and genetics.
One study involving people of European descent suggests that freckles are linked to genetic variation in a few genes, two of which are also associated with sun sensitivity. In another study, freckling was also associated with other loci near a gene that may be regulating the production of keratin (the main protein that makes up hair). Across the board, most of the genes associated with freckles are related to pigmentation (such as eye and hair color). So these physical traits may go hand in hand.
The physical traits associated with freckles are fairly well known. People with red hair very often have freckles. People with freckles frequently have children with red hair, even if they don’t have red hair themselves. However, people across different ethnicities and races can also have freckles.
There are many genes involved with freckles, and they can interact with one another in different ways. Here’s a look at the four most well-studied freckles genes.
The MC1R gene is recognized for its role in producing red hair, though this only occurs in an MC1R gene variant. When the MC1R gene is functioning normally, it is responsible for producing the melanocortin 1 receptor protein that regulates the production of eumelanin and pheomelanin -- two types of melanin. Eumelanin serves to protect skin from harmful radiation from the sun. When the MC1R gene is blocked from sending signals to produce eumelanin, more pheomelanin is created. The abundance of pheomelanin causes red hair and freckles.
The role IRF4 plays in the formation of freckles was only recently discovered by a team of researchers in Iceland. According to a study published in 2013, a IRF4 gene variant contributes to inhibiting the production of an enzyme that causes melanin synthesis, resulting in light pigmentation, freckles, blue eyes, and brown hair. This trait is common in Ireland, Iceland, and throughout Northern Europe.
While the OCA2 gene is recognized as being one of the genetic conditions that cause freckles, it is quite rare. A form of albinism, OCA2 causes white hair, extremely light eyes, and fair skin. While OCA1 is characterized by a complete absence of pigment, OCA2 isn’t as severe; freckling is common after sun exposure.
Most of the OCA2 impact on regular pigmentation is attributable to single nucleotide polymorphisms (SNPs). SNP is located in a distal regulatory sequence within the neighboring gene. The SNP controls the level of OCA2 manifestation, and they are associated with increased freckling.
The BNC2 gene is associated with skin color saturation. Recently, researchers identified multiple SNPs (single nucleotide polymorphisms) that are thought to be associated with skin pigmentation pathways, most especially rs10756819, that can be found in the BNC2 gene. Plus, another SNP in BNC2 was found to be linked with freckling.
Freckles are widely assumed to have evolved in people through adaptation to sunlight. While freckles are usually not dangerous, you shouldn't ignore them. Freckles shouldn't change significantly in appearance, shape, or size, nor should they become symptomatic. If your freckles have brown spots that are changing, you should have them examined by a dermatologist to ensure that it is not skin cancer, an abnormal mole, or another type of growth. While the appearance of freckles on your body is not necessarily a sign that you are not protecting your skin enough, you should consider taking precautions if you notice an increasing number of freckles.
You can access the raw DNA file if you have taken an at-home DNA test through a provider like 23andMe or MyHeritage.
Once you’ve downloaded your file, you can submit it to Genomelink for in-depth genetic analysis. Get ready to learn about your freckles ancestry!
Uncovering your genetic information will help you anticipate potential medical issues before they become problematic. When you take preemptive measures to safeguard your health, you are far less likely to experience complications.
Genomelink can empower you with the information you need to make informed decisions about your health and lifestyle. Upload your DNA profile and learn more about your freckles ancestry with Genomelink today.