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Abstract
Tyrosinase is encoded by the Tyr (c or albino) locus and is the key enzyme in pigment biosynthesis. Loss of function of this enzyme caused by gene mutation results in albinism. Most cases of albinism are caused by missense mutations of tyrosinase. Albino mutations in Tyr have been identified in various animals, including human, mouse, rat, rabbit, cattle, cat, and ferret, but not in gerbil. We created two new gerbil strains: MON/Num/a (inbred agouti phenotype) and MON/Num/c (albino phenotype). Here, we report that four nucleotide substitutions in the Tyr gene caused two missense mutations in amino acids in the albino gerbil: a G-to-A mutation at position 204 in exon 1 caused R77H, and A-to-G at position 1392 and G-to-T at position 1393 in exon 5 caused Q473R. The substitution at position 1408 in exon 5 was silent. These missense mutations are conserved in all albino phenotypes we tested. Therefore, we suggest that these mutations are responsible for albinism in gerbil.
Highlights
The Mongolian gerbil (Meriones unguiculatus) is extensively used as an animal model in studies of pharmacology [1], parasitology [2], aging [3], oncology [4], and reproduction [5] [6]
Albinism in gerbil was first reported by Matsuzaki et al [21], but not since, and genetic evidence of albino mutations has not been characterized yet
Oculocutaneous albinism (OCA), which is a group of autosomal recessive diseases in humans and other animals, is characterized by reduced or absent melanin in skin, hair, and eyes
Summary
The Mongolian gerbil (Meriones unguiculatus) is extensively used as an animal model in studies of pharmacology [1], parasitology [2], aging [3], oncology [4], and reproduction [5] [6]. Gerbils used in scientific research originated from 20 pairs captured in the basin of the Amur River in eastern Mongolia and were imported into Japan in 1935. They were sent to the Kitasato Institute for rickettsial studies [7]. Agouti gerbils in our laboratory have been kept as a closed colony since 1983 from their origins at Tokyo Women’s University and Tokyo University of Agriculture [6]. By repeated sub-mating of these gerbils, we have created the inbred agouti strain MON/Num/a (Figure 1(A)).
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