Exon skipping in the KIT gene causes a Sabino spotting pattern in horses

  title={Exon skipping in the KIT gene causes a Sabino spotting pattern in horses},
  author={Samantha Ann Brooks and Ernest Bailey},
  journal={Mammalian Genome},
Sabino (SB) is a white spotting pattern in the horse characterized by white patches on the face, lower legs, or belly, and interspersed white hairs on the midsection. Based on comparable phenotypes in humans and pigs, the KIT gene was investigated as the origin of the Sabino phenotype. In this article we report the genetic basis of one type of Sabino spotting pattern in horses that we call Sabino 1, with the alleles represented by the symbols SB1 and sb1. Transcripts of KIT were characterized… 

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Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting.

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A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse

Three mutations in microphthalmia-associated transcription factor (MITF) and two mutations in Paired Box 3 (PAX3) have been identified that explain splashed white patterns in horses, and an 8.7 kb deletion in MITF is the likely causal variant for SW6.



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Close association between sequence polymorphism in the KIT gene and the roan coat color in horses

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It is concluded that the survival of immature melanoblasts depends crucially upon Kit signalling up until E11, and later in development Kit plays a vital role in melanoblast proliferation.

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