Identification of a melanocyte-specific, microphthalmia-associated transcription factor-dependent regulatory element in the intronic duplication causing hair greying and melanoma in horses.

@article{Sundstrm2012IdentificationOA,
  title={Identification of a melanocyte-specific, microphthalmia-associated transcription factor-dependent regulatory element in the intronic duplication causing hair greying and melanoma in horses.},
  author={Elisabeth Sundstr{\"o}m and Anna Z Komisarczuk and Lin Jiang and Anna Golovko and Pavla Navratilova and Silke Rinkwitz and Thomas Becker and Leif Andersson},
  journal={Pigment cell & melanoma research},
  year={2012},
  volume={25 1},
  pages={28-36}
}
Greying with age in horses is an autosomal dominant trait, characterized by hair greying, high incidence of melanoma and vitiligo-like depigmentation. Previous studies have revealed that the causative mutation for this phenotype is a 4.6-kb intronic duplication in STX17 (Syntaxin 17). By using reporter constructs in transgenic zebrafish, we show that a construct containing two copies of the duplicated sequence acts as a strong enhancer in neural crest cells and has subsequent melanophore… CONTINUE READING

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