A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
LB Giebel, RK Tripathi, RA King… - The Journal of clinical …, 1991 - Am Soc Clin Investig
LB Giebel, RK Tripathi, RA King, RA Spritz
The Journal of clinical investigation, 1991•Am Soc Clin InvestigType I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient
synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A
novel type I OCA phenotype in which hypopigmentation is related to local body temperature
is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln).
This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form
of type I OCA thus is homologous to the temperature-related forms of albinism seen in the …
synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A
novel type I OCA phenotype in which hypopigmentation is related to local body temperature
is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln).
This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form
of type I OCA thus is homologous to the temperature-related forms of albinism seen in the …
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.
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The Journal of Clinical Investigation