Biochemical and Biophysical Research Communications
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
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2022, Aquaculture and FisheriesCitation Excerpt :According to these results, tyr and tyrp1 as tyrosine metabolism-related genes are regard as key genes which play an important role in pigment metabolic process. In human, oculocutaneous albinism (OCA) is commonly subdivided into four types based on the genes that are mutated: TYR, OCA2, TYRP1, and SLC45A2 (Tomita, Takeda, Okinaga, Tagami, & Shibahara, 1989; Rinchik et al., 1993; Boissy et al., 1996; Newton et al., 2001). In the present study, these four genes were all significantly up-regulated in both ocular-side normal skin and blind-side hypermelanotic skin, while their expression in blind-side normal skin was very low (Supplementary Fig 2; Supplementary Table 5).
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2022, OphthalmologyCitation Excerpt :Retinal detachment occurs in 6.6% of PDS patients and 7.6% of PG patients,65 which is a greater prevalence that can be accounted for by the associated myopia; however, there is strong LD across the genomic region over both the GRM5 and TYR genes. As previously discussed, TYR interacts with gamma secretase in ocular pigmentation66 and is also a prominent pigmentation gene associated with eye, hair, and skin pigmentation,38,51,67 and mutations within the TYR gene also cause oculocutaneous albinism.66 Lighter eye color correlates with PDS and PG risk at observational68,69 and genetic10 levels.
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