Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses
| Autor: | Danielle Bisbee, Meredith L. Carpenter, K. Hoefs-Martin, Samantha A. Brooks, Christa Lafayette |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine SLC45A2 Coat Mutation Missense medicine.disease_cause 03 medical and health sciences Genotype Genetics medicine Animals Missense mutation Horses Allele Gene Mutation biology Pigmentation 0402 animal and dairy science Membrane Transport Proteins 04 agricultural and veterinary sciences General Medicine 040201 dairy & animal science Phenotype 030104 developmental biology biology.protein Female Animal Science and Zoology |
| Popis: | SUMMARYSLC45A2 mutations are responsible for several dilution phenotypes in horses, including cream, pearl, and sunshine. We sequenced the SLC45A2 gene in a horse that possessed a diluted coat color but tested negative for any known dilution genotypes. We identified a novel homozygous missense mutation in ECA21: SLC45A2:c.305G>A; p.(Arg102Gln) which we have named snowdrop (Csno). The snowdrop dilution is autosomal recessive and dilutes both red and black pigment in the homozygous state, creating a phenotype similar to homozygous cream. We also identified this mutation in the heterozygous state in several relatives, including the sire and dam of the affected horse, where it has no visible effect on phenotype. Based on these data, the snowdrop variant produces a recessive dilution similar to cream, and its discovery confirms that multiple SLC45A2 alleles cause dilute phenotypes in horses. |
| Databáze: | OpenAIRE |
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