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 mis...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.展开更多
INTRODUCTION The Mongolian gerbil(Meriones unguiculatus)has been used as an animal model for pharmacology(Wu et al.2008),parasitology(Lim et al.2004),and studies of reproduction(Kai et al.1995).The molecular mechanism...INTRODUCTION The Mongolian gerbil(Meriones unguiculatus)has been used as an animal model for pharmacology(Wu et al.2008),parasitology(Lim et al.2004),and studies of reproduction(Kai et al.1995).The molecular mechanisms of several coat-color phenotypes are known in gerbils(Petrij et al.2001,2007).On the other hand,although albinism in gerbils was first reported by Matsuzaki et al.(1989),its molecular mechanism is still unclear.In a previous study,we reported the establishment of the albino gerbil strain(strain code:MON/Num/c)as a closed colony and the agouti-colored strain(strain code:MON/Num/a)as inbred.Our albino strain had 4 nucleotide substitutions and 2 missense mutations(R77H in exon 1 and Q473R in exon 5)in the tyrosinase(Tyr)gene(Ukaji et al.2016).展开更多
文摘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.
文摘INTRODUCTION The Mongolian gerbil(Meriones unguiculatus)has been used as an animal model for pharmacology(Wu et al.2008),parasitology(Lim et al.2004),and studies of reproduction(Kai et al.1995).The molecular mechanisms of several coat-color phenotypes are known in gerbils(Petrij et al.2001,2007).On the other hand,although albinism in gerbils was first reported by Matsuzaki et al.(1989),its molecular mechanism is still unclear.In a previous study,we reported the establishment of the albino gerbil strain(strain code:MON/Num/c)as a closed colony and the agouti-colored strain(strain code:MON/Num/a)as inbred.Our albino strain had 4 nucleotide substitutions and 2 missense mutations(R77H in exon 1 and Q473R in exon 5)in the tyrosinase(Tyr)gene(Ukaji et al.2016).
