Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses

Abstract

Champagne coat color in horses is controlled by a single, autosomal-dominant gene (CH). The phenotype produced by this gene is valued by many horse breeders, but can be difficult to distinguish from the effect produced by the Cream coat color dilution gene (CR). Three sires and their families segregating for CH were tested by genome scanning with microsatellite markers. The CH gene was mapped within a 6 cM region on horse chromosome 14 (LOD = 11.74 for θ = 0.00). Four candidate genes were identified within the region, namely SPARC [Secreted protein, acidic, cysteine-rich (osteonectin)], SLC36A1 (Solute Carrier 36 family A1), SLC36A2 (Solute Carrier 36 family A2), and SLC36A3 (Solute Carrier 36 family A3). SLC36A3 was not expressed in skin tissue and therefore not considered further. The other three genes were sequenced in homozygotes for CH and homozygotes for the absence of the dilution allele (ch). SLC36A1 had a nucleotide substitution in exon 2 for horses with the champagne phenotype, which resulted in a transition from a threonine amino acid to an arginine amino acid (T63R). The association of the single nucleotide polymorphism (SNP) with the champagne dilution phenotype was complete, as determined by the presence of the nucleotide variant among all 85 horses with the champagne dilution phenotype and its absence among all 97 horses without the champagne phenotype. This is the first description of a phenotype associated with the SLC36A1 gene.

A missense mutation in damage‐specificDNAbinding protein 2 is a genetic risk factor for ocular squamous cell carcinoma in Belgian horses

“…The median age at diagnosis of ocular SCC or carcinoma in situ in this sample was 11 years (range: 5-27 years). The median age at the time of examination of the control group was 15 years (range: [13][14][15][16][17][18][19][20][21][22][23][24][25]. The median age of the affected group was significantly younger than that of the control group (U = 101, P = 0.002).…”

The genetic basis of divergent pigment patterns in juvenile threespine sticklebacks

“…The genetics of pigmentation in vertebrates has been extensively studied for over a century in a range of laboratory model systems, yielding tremendous insight into the molecular and developmental mechanisms that generate variant colors and patterns (Barsh, 1996; Steingrimsson et al , 2006). In recent decades, advances in molecular genetic technology have expanded the repertoire of animal models of pigmentation, facilitating the discovery of genetic contributions to variation in pigmentation resulting from both artificial (Candille et al , 2007; Cook et al , 2008; Eizirik et al , 2010; Fang et al , 2009; Kelsh, 2004; Steingrimsson et al , 2006) and natural selection (Anderson et al , 2009; Gratten et al , 2007; Protas and Patel, 2008; Roberts et al , 2009; Steiner et al , 2007; Wittkopp and Beldade, 2009). …”

PAT1 (SLC36A1) shows nuclear localization and affects growth of smooth muscle cells from rats

“…PAT1 mRNA is expressed in several mammalian tissues, including the heart, brain, placenta, testis, spleen, liver, lung, skeletal muscle, pancreas, intestine, skin, and kidney (1,3,6,8,22). PAT1 has a number of functions in cells and tissues, including luminal uptake of amino acids, sensing the availability of amino acids, being a target for rapamycin complex 1 (TORC1) activation, and regulating cell growth in different models (7,11,15,17,23).…”