Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities
نویسندگان
چکیده
منابع مشابه
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities
Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. Here we report a sixth OPN1SW mutation (T190I) and the associated color vision phenotype. S-opsin genotyping and clinical evaluation of color vision were performed on affected and unaffected...
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Mouse cone photoreceptors, like those of most mammals including humans, express cone opsins derived from two ancient families: S-opsin (gene Opn1sw) and M-opsin (gene Opn1mw). Most C57Bl/6 mouse cones co-express both opsins, but in dorso-ventral counter-gradients, with M-opsin dominant in the dorsal retina and S-opsin in the ventral retina, and S-opsin 4-fold greater overall. We created a mouse...
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The heterozygous substitution of threonine for alanine at amino acid 109 of human transthyretin (TTR) increases its affinity for T4. We compared the affinity of recombinant wild-type (WT) and Thr109-TTRs for various iodothyronines in an attempt to elucidate how this mutation alters the T4-binding site. Homozygous WT and Thr109-TTRs were expressed recombinantly in Escherichia coli, and heterozyg...
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ژورنال
عنوان ژورنال: Vision Research
سال: 2012
ISSN: 0042-6989
DOI: 10.1016/j.visres.2012.09.007