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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.
Ojos Azules (Spanish: [ˈoxos aθˈules], 'Blue Eyes') was a breed of shorthaired [1] [2] domestic cat with unusual blue or odd eyes [1] caused by a dominant blue eye (DBE) genetic mutation. The breed came in all coat colors; however, only particolors ( bicolors and tricolors ), colorpoints , and intermediate colors with a characteristic white ...
[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 ...
For those with that blue-eye gene mutation they eyes stay blue. But for the vast majority of us, once we're born the OCA2 gene kicks into gear, creating melanocytes to make proteins and the eyes ...
Hans Eiberg (born 8 April 1945) is a Danish geneticist, known for his discovery of the genetic mutation causing blue eyes.. Hans Eiberg graduated as a M.Sc. in 1970. He has worked with genetics at the Institute for Medical Biochemistry and Genetics of Copenhagen University since 1971, and became an associate professor at the institute in 1975.
[78] [79] [74] A research program by geneticist Hans Eiberg and his team at the University of Copenhagen from the 1990s to 2000s investigating the origins of blue eyes revealed that a mutation in the gene OCA2 is responsible for this trait. According to them, all humans initially had brown eyes and the OCA2 mutation took place between 6,000 and ...
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. [5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin .
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