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Thread: Where do freckles come from ?

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    Freckles come from a mutation in genes.

    "The presence of freckles is related to rare alleles of the MC1R gene, though it does not differentiate whether an individual will have freckles if they have one or even two copies of this gene. Also, individuals with no copies of the MC1R do sometimes display freckles. Even so, individuals with a high number of freckling sites have one or more of variants of the MC1R gene. Of the variants of the MC1R gene Arg151Cys, Arg160Trp, and Asp294. His are the most common in the freckled subjects. The MC1R gene is also associated with red hair more strongly than with freckles. Most red haired individuals have two variants of the MC1R gene and almost all have one. The variants that cause red hair are the same that cause freckling.Freckling can also be found in areas, such as Japan, where red hair is not seen. These individuals have the variant Val92Met which is also found in Caucasians although it has minimal effects on their pigmentation. The R162Q allele has a disputed involvement in freckling.

    The variants of the MC1R gene that are linked with freckles started to emerge in the human genotype when humans started to leave Africa. The variant Val92Met arose somewhere between 250,000 - 100,000 years ago, long enough for this gene to be carried by humans into central Asia. Arg160Trp is estimated to have arisen around 80,000 years ago while Arg151Cys and Asp294His have been estimated to arise around 30,000 years ago. The wide variation of the MC1R gene exists in people of European descent because of the lack of strong environmental pressures on the gene. The original allele of MC1R coded for dark skin with a high melanin content in the cells. The high melanin content is protective in areas of high UV light exposure. The need was less as humans moved into higher latitudes where incoming sunlight has lower UV light content. The adaptation of lighter skin is needed so that individuals in higher latitudes can still absorb enough UV for the production of vitamin D. Freckled individuals tend to tan less and have very light skin which would have helped the individuals that expressed these genes absorb vitamin D"

    > http://hmg.oxfordjournals.org/content/10/16/1701

    A study showing you find high level percent of mutation in this gene in the population Dutch, Swedish, Irish, Brittish... :

    > https://mathildasanthropologyblog.wo...mcr1-variants/

    BTW, some Neanderthals were redhead and had freckles but it seems you found dark haired and blond Neanderthals as well.

    > http://news.bbc.co.uk/2/hi/science/nature/7062415.stm

    "The Out-of-Africa model proposes that modern humans originated in Africa and migrated north to populate Europe and Asia. These migrants most likely had a functional MC1R variant and, accordingly, dark hair and skin as displayed by indigenous Africans today. As humans migrated north, the absence of high levels of solar radiation in northern Europe and Asia relaxed the selective pressure on active MC1R, allowing the gene to mutate into dysfunctional variants without reproductive penalty, then propagate by genetic drift." Studies show the MC1R Arg163Gln allele has a high frequency in East Asia and may be part of the evolution of light skin in East Asian populations. No evidence is known for positive selection of MC1R alleles in Europe and there is no evidence of an association between MC1R and the evolution of light skin in European populations."

    If homo sapiens migrated from africa and had a mutation of MC1R by low exposure to the sun, how do you explain Neanderthal had this mutation in genes also ? for me that's not coming from Africa in particular.

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    Quote Originally Posted by Dick View Post
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    Back on thread.

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    The melanocortin 1 receptor (MC1R) regulates pigmentation in humans and other vertebrates. Variants of MC1R with reduced function are associated with pale skin color and red hair in humans of primarily European origin. We amplified and sequenced a fragment of the MC1R gene (mc1r) from two Neanderthal remains. Both specimens have a mutation that was not found in ∼3700 modern humans analyzed. Functional analyses show that this variant reduces MC1R activity to a level that alters hair and/or skin pigmentation in humans. The impaired activity of this variant suggests that Neanderthals varied in pigmentation levels, potentially on the scale observed in modern humans. Our data suggest that inactive MC1R variants evolved independently in both modern humans and Neanderthals.
    http://science.sciencemag.org/content/318/5855/1453
    The MC1R gene responsible for freckles were also found in the Neanderthals, which resulted in red hair and pale skin, as in modern humans. The specific MCR1 mutation in the Neanderthals has not been found in modern humans and MC1R variants evolved independently in both modern humans and the Neanderthals (Lalueza-Fox et al. 2007). However, it has been shown that the Neanderthals contributed genetically to modern humans outside Africa 47,000–65,000 years ago and humans and the Neanderthals also share the FOXP2 gene involved in speech and language.
    Давайте вместе снова сделаем мир великий!

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    Good to know where my freckling comes from! lol
    “The most merciful thing in the world, I think, is the inability of the human mind to correlate all its contents. We live on a placid island of ignorance in the midst of black seas of infinity, and it was not meant that we should voyage far. The sciences, each straining in its own direction, have hitherto harmed us little; but some day the piecing together of dissociated knowledge will open up such terrifying vistas of reality, and of our frightful position therein, that we shall either go mad from the revelation or flee from the light into the peace and safety of a new dark age.”

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    ...
    Last edited by JBoscherville; 12-28-2016 at 01:56 AM. Reason: ...
    anthrotardanoia

    . A condition resulting from prolonged exposure to exotification of European phenotypes on Anthrofora.


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    Last edited by JBoscherville; 12-28-2016 at 01:56 AM. Reason: ...
    anthrotardanoia

    . A condition resulting from prolonged exposure to exotification of European phenotypes on Anthrofora.


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    There are likely many genes related to freckles (not just one), this is another example:

    IRF4, rs12203592 - causes lighter hair, lighter eyes, and freckling ("three-in-one")

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    Quote Originally Posted by Ilma View Post


    Where do freckles come from ?

    Freckles are little dark spots appearing on the skin (light ones). They're potentially in our genes and sun reveal them.
    This is melanin concentrated spots.

    http://genetics.thetech.org/ask/ask195

    Skin types are classified from the lightest to the darkest.

    The 1rst skin type is 0 : albinos, very white skin, no melanin

    Type I : very light skin, redhead or very pale blond hair. The skin is white-rosy and the sun burn it quickly (never become tanned, just red, burnt). A lot of freckles appear with sun and revelated genes
    Type II : light skin, redhead, blond or dark blond hair. Some freckles appear due to the sun, very hard to become tanned with sun. Needs time to be tanned with.
    Type III : medium light skin, dark blond, chestnut or brown hair. Can be tanned with the sun.
    Type IV : medium skin, chestnut or brown hair. Easily tanned with the sun. Darker than the III
    Type V : darker skin, brown hair and eyes, very easy to become tanned and dark with the sun.
    Type VI : very dark skin, brown or black hair skin, hair and eyes. Very tolerant to the sun.

    Source (french) : http://www.cancer.be/pr-vention/sole...e-type-de-peau

    Do you have freckles ? Do you think some countries / origins may be involved in having genes to develop freckles ?


    Please tell me if I posted in the wrong section, thank you
    76% of the Irish population belong to skin type I/II! This is overall the palest population in the world.

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