黑色素的形成和沉积主要发生在黑素小体的淀粉样纤维上,前黑素小体蛋白17是黑素小体形成淀粉样纤维的关键蛋白,该蛋白在黑色素的形成和沉积中发挥重要作用。论文对Pmel17在黑素小体成熟过程中的调节作用进行综述,概述了Pmel17的解朊机制...黑色素的形成和沉积主要发生在黑素小体的淀粉样纤维上,前黑素小体蛋白17是黑素小体形成淀粉样纤维的关键蛋白,该蛋白在黑色素的形成和沉积中发挥重要作用。论文对Pmel17在黑素小体成熟过程中的调节作用进行综述,概述了Pmel17的解朊机制,SLC24A5、SLC45A2基因编码的离子交换蛋白对Pmel17解朊的影响,Oa1(ocular albinism type 1)基因对Pmel17表达量的影响,以及部分基因调控Pmel17对黑素小体结构形成的影响。对Pmel17在黑素小体成熟过程中的作用深入研究,有助于探明哺乳动物黑色素的合成和沉积机制,并从Pmel17的角度解析哺乳动物黑色素的色素减退机制和白化现象。展开更多
Waardenburg syndrome typeⅡ（WS2） is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15%of patients,is attributed to mutations in the microphthalmia-associated transcription facto...Waardenburg syndrome typeⅡ（WS2） is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15%of patients,is attributed to mutations in the microphthalmia-associated transcription factor（MITF） gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon（exon 2） of the most common hereditary deafness gene GJB2 and the mitochondrial DNA（mtDNA） 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G〉A]＋ [235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.展开更多
Objective:To investigate the suitability of citrus-press cakes,by-products of the juice industry as a source for the whitening agents for cosmetic industry.Methods:Ethylacetate extracts of citrus-press cakes(CCE)were ...Objective:To investigate the suitability of citrus-press cakes,by-products of the juice industry as a source for the whitening agents for cosmetic industry.Methods:Ethylacetate extracts of citrus-press cakes(CCE)were examined for their anti-melanogenic potentials in terms of the inhibition of melanin production and mechanisim of melanogenesis by using Western Blot analysis with tyrosinese,tyrosinase-related protein-1(TRP-1),TRP2,and microphthalmia-associated transcription factor(MITF)proteins.To apply the topical agents,citrus-press cakes was investigated the safety in human skin cell line.Finally flavonoid analysis of CCE was also determined by HPLC analysis.Results:Results indicated that CCE were shown to down-regulate melanin content in a dose-dependent pattern.The CCE inhibited tyrosinase,TRP-2,and MITF expressions in a dose-dependent manner.To test the applicability of CCE to human skin,we used MTT assay to assess the cytotoxic effects of CCE on human keratinocyte HaCaT cells.The CCE exhibited low cytotoxicity at 50μg/mL.Characterization of the citrus-press cakes for flavonoid contents using HPLC showed varied quantity of rutin,narirutin,and hesperidin.Conclusions:Considering the anti-melanogenic activity and human safety,CCE is considered as a potential anti-melanogenic agent and may be effective for topical application for treating hyperpigmentation disorders.展开更多
文摘黑色素的形成和沉积主要发生在黑素小体的淀粉样纤维上,前黑素小体蛋白17是黑素小体形成淀粉样纤维的关键蛋白,该蛋白在黑色素的形成和沉积中发挥重要作用。论文对Pmel17在黑素小体成熟过程中的调节作用进行综述,概述了Pmel17的解朊机制,SLC24A5、SLC45A2基因编码的离子交换蛋白对Pmel17解朊的影响,Oa1(ocular albinism type 1)基因对Pmel17表达量的影响,以及部分基因调控Pmel17对黑素小体结构形成的影响。对Pmel17在黑素小体成熟过程中的作用深入研究,有助于探明哺乳动物黑色素的合成和沉积机制,并从Pmel17的角度解析哺乳动物黑色素的色素减退机制和白化现象。
基金supported by the grants from the National Basic Research Program of China(Nos.2011CB504500, 2011CB504506 and 2010CB945503)the National Basic Research Program of China(No.2011504502)+1 种基金the Shanghai Municipal Commission of Science and Technology Program (No.09DJ140061)the National Natural Science Foundation of China(No.81070793)
文摘Waardenburg syndrome typeⅡ（WS2） is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15%of patients,is attributed to mutations in the microphthalmia-associated transcription factor（MITF） gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon（exon 2） of the most common hereditary deafness gene GJB2 and the mitochondrial DNA（mtDNA） 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G〉A]＋ [235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.
基金Supported by the Next-Generation BioGreen 21 Program,Rural Development Administration,Republic of Korea,Grant No.PJ009583002013
文摘Objective:To investigate the suitability of citrus-press cakes,by-products of the juice industry as a source for the whitening agents for cosmetic industry.Methods:Ethylacetate extracts of citrus-press cakes(CCE)were examined for their anti-melanogenic potentials in terms of the inhibition of melanin production and mechanisim of melanogenesis by using Western Blot analysis with tyrosinese,tyrosinase-related protein-1(TRP-1),TRP2,and microphthalmia-associated transcription factor(MITF)proteins.To apply the topical agents,citrus-press cakes was investigated the safety in human skin cell line.Finally flavonoid analysis of CCE was also determined by HPLC analysis.Results:Results indicated that CCE were shown to down-regulate melanin content in a dose-dependent pattern.The CCE inhibited tyrosinase,TRP-2,and MITF expressions in a dose-dependent manner.To test the applicability of CCE to human skin,we used MTT assay to assess the cytotoxic effects of CCE on human keratinocyte HaCaT cells.The CCE exhibited low cytotoxicity at 50μg/mL.Characterization of the citrus-press cakes for flavonoid contents using HPLC showed varied quantity of rutin,narirutin,and hesperidin.Conclusions:Considering the anti-melanogenic activity and human safety,CCE is considered as a potential anti-melanogenic agent and may be effective for topical application for treating hyperpigmentation disorders.
