Schematic description of the mutation causing hair greying and susceptibility to melanoma in horses. (IMAGE)

Uppsala University

Schematic description of the mutation causing hair greying and susceptibility to melanoma in horses.

Caption

The mutation causing Greying with age is a copy number variation of a 4,600 bp long sequence located in intron 6 of the Syntaxin 17 gene. The duplicated sequence harbours binding sites for the protein MITF which regulates gene expression in pigment cells. The presence of the duplicated sequence upregulates the expression of both Syntaxin 17 and the neighbouring gene NR4A3. G1 has a single copy of the 4,600 base pair sequence and is associated with normal coat colour, G2 carries two copies and causes slow greying, and G3 carries three copies and causes fast greying.

Credit

Uppsala University

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