Tyrosinase exists universally in organisms and is a characteristic enzyme of melanocytes. Tyrosinase family genes in vertebrates consist of 3 related members; tyrosinase (TYR, Tyr), tyro sinase-related protein-1 (T...Tyrosinase exists universally in organisms and is a characteristic enzyme of melanocytes. Tyrosinase family genes in vertebrates consist of 3 related members; tyrosinase (TYR, Tyr), tyro sinase-related protein-1 (TRP-1, Tyrp 1), and tyro sinase-related protein-2 (TRP-2, Tyrp2, Dct). These proteins catalyze melanin biosynthesis in pigment cells and play important roles in determining vertebrate coloration. Transcription of the TYR and TRP genes is useful for studying neural crest and optic vesicle cell migration and differentiation during emblyogenesis and important in pigment rescue in fish. In this paper, the structure of gene and protein molecular evolution, function and roles of the TYR family in fish were reviewed.展开更多
Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genet...Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.展开更多
Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found...Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found it very interesting for the scientific community.展开更多
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
The large yellow croaker (Larimichthys crocea) is an economically important marine species with the highest annual production among the farmed marine fishes in China. However, the aquaculture industry of this species ...The large yellow croaker (Larimichthys crocea) is an economically important marine species with the highest annual production among the farmed marine fishes in China. However, the aquaculture industry of this species is suffering from severe problems that include weakened disease resistance, decreased growth rate, and reduced meat quality due to frequent inbreeding. Genome editing, which has a huge potential for solving those problems by introducing favorable genetic changes, is not yet available for the large yellow croaker. Here, we pioneered the techniques of embryo microinjection and genome editing using the CRISPR/Cas9 system in this species. Recombinant plasmids encoding green fluorescent protein (GFP) were introduced into the fertilized eggs of L. crocea by microinjection before the chorion had hardened. A high survival rate (40%) and GFP-positive larvae rate (81.8%) were achieved, indicating that the microinjection technique in L. crocea was successfully established. On this basis, Cas9 mRNA and sgRNA targeting the tyrosinase a gene in L. crocea (Lc-tyra) were co-injected into fertilized eggs of L. crocea. Mutant individuals with insertion and deletion mutations of Lc-tyra were detected. These results indicated that the CRISPR/Cas9-based genome editing technology established herein could efficiently introduce mutations at a specific site in the L. crocea genome. This method provides the potential for genetic improvement and functional genomic study in this species. This is the first report on effective CRISPR/Cas9-based genome editing in L. crocea.展开更多
文摘Tyrosinase exists universally in organisms and is a characteristic enzyme of melanocytes. Tyrosinase family genes in vertebrates consist of 3 related members; tyrosinase (TYR, Tyr), tyro sinase-related protein-1 (TRP-1, Tyrp 1), and tyro sinase-related protein-2 (TRP-2, Tyrp2, Dct). These proteins catalyze melanin biosynthesis in pigment cells and play important roles in determining vertebrate coloration. Transcription of the TYR and TRP genes is useful for studying neural crest and optic vesicle cell migration and differentiation during emblyogenesis and important in pigment rescue in fish. In this paper, the structure of gene and protein molecular evolution, function and roles of the TYR family in fish were reviewed.
基金Higher Education Commission (HEC) Islamabad, Pakistan for partly supporting this study
文摘Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.
文摘Dear Editor,I have carefully read the article entitled "Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene",published by Shakil et al in 2016 and found it very interesting for the scientific community.
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.
基金The work was supported by grants from the National Key R&D Program of China(2018YFD0900505)National Natural Science Foundation of China(U1905204 and 31802337)+1 种基金China Agricultural Research System(CARS-47)Marine Economic Development Subsidy Fund of Fujian Province(FJHJF-L-2019-2).
文摘The large yellow croaker (Larimichthys crocea) is an economically important marine species with the highest annual production among the farmed marine fishes in China. However, the aquaculture industry of this species is suffering from severe problems that include weakened disease resistance, decreased growth rate, and reduced meat quality due to frequent inbreeding. Genome editing, which has a huge potential for solving those problems by introducing favorable genetic changes, is not yet available for the large yellow croaker. Here, we pioneered the techniques of embryo microinjection and genome editing using the CRISPR/Cas9 system in this species. Recombinant plasmids encoding green fluorescent protein (GFP) were introduced into the fertilized eggs of L. crocea by microinjection before the chorion had hardened. A high survival rate (40%) and GFP-positive larvae rate (81.8%) were achieved, indicating that the microinjection technique in L. crocea was successfully established. On this basis, Cas9 mRNA and sgRNA targeting the tyrosinase a gene in L. crocea (Lc-tyra) were co-injected into fertilized eggs of L. crocea. Mutant individuals with insertion and deletion mutations of Lc-tyra were detected. These results indicated that the CRISPR/Cas9-based genome editing technology established herein could efficiently introduce mutations at a specific site in the L. crocea genome. This method provides the potential for genetic improvement and functional genomic study in this species. This is the first report on effective CRISPR/Cas9-based genome editing in L. crocea.