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  2. Waardenburg syndrome - Wikipedia

    en.wikipedia.org/wiki/Waardenburg_syndrome

    Mutations in a single copy of SNAI2 have also been found to cause patches of hair depigmentation without any other symptoms. [25] Type 2E is caused by an autosomal dominant mutation in the gene SOX10. [4] Rarely, a mutation in a gene other than those currently known may be responsible for a Waardenburg syndrome with features of type 2.

  3. HERC2 - Wikipedia

    en.wikipedia.org/wiki/HERC2

    This genotype is present in almost all people with blue eyes and is hypothesised as being the founder mutation of blue eyes in humans. [13] [14] [15] The rs916977 SNP is most common in Europe; particularly in the north and east, where it nears fixation.

  4. Eye color - Wikipedia

    en.wikipedia.org/wiki/Eye_color

    [56] [57] However, more recent ancient DNA research has identified human remains much older than the Neolithic period which possess the OCA2 mutation for blue eyes. It is now believed that the OCA2 allele responsible for blue eyes dates back to the migration of modern humans out of Africa roughly 50,000 years ago, and entered Europe from ...

  5. If you think you have blue or green eyes, they're ... - AOL

    www.aol.com/lifestyle/2016-12-19-if-you-have...

    All eyes are really brown. According to CNN , Dr. Gary Heiting, a licensed optometrist and senior editor of All About Vision explained why all human eyes are actually brown, no matter if they look ...

  6. Heterochromia iridum - Wikipedia

    en.wikipedia.org/wiki/Heterochromia_iridum

    This is due to a mutation of the genes that determine melanin distribution at the 8-HTP pathway, which usually only become corrupted due to chromosomal homogeneity. [3] Though common in some breeds of cats, dogs, cattle and horses due to inbreeding, heterochromia is uncommon in humans, affecting fewer than 200,000 people in the United States ...

  7. Oculocutaneous albinism - Wikipedia

    en.wikipedia.org/wiki/Oculocutaneous_albinism

    Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]

  8. P protein - Wikipedia

    en.wikipedia.org/wiki/P_protein

    A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. [10] [11] [12]

  9. Experimental gene therapy restores some vision in patients ...

    www.aol.com/news/experimental-gene-therapy...

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