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
为了研究前黑色素小体蛋白17(pre-melanosomal protein 17,PMEL17)基因第10外显子上有关显性白羽突变的基因频率和基因型频率在雪域白鸡群体中的分布情况,试验采用PCR-RFLP方法分析基因型,利用POPGENE 1.32软件计算基因型和基因频率,用S...为了研究前黑色素小体蛋白17(pre-melanosomal protein 17,PMEL17)基因第10外显子上有关显性白羽突变的基因频率和基因型频率在雪域白鸡群体中的分布情况,试验采用PCR-RFLP方法分析基因型,利用POPGENE 1.32软件计算基因型和基因频率,用SPSS 20.0软件进行哈代-温伯格平衡适合性检验。结果表明:雪域白鸡群体中PMEL17基因有Ⅱ、Ii和ii 3种基因型,基因型频率分别为91.58%、7.37%、1.05%,Ⅰ和i等位基因频率分别为95.27%和4.73%。雪域白鸡群体内PMEL17基因BsrB酶切基因型分布不符合哈代-温伯格平衡状态(P<0.05),这可能与经历人工选择有关。说明雪域白鸡群体中Ⅱ基因型个体已占主导,但仍存在其他羽色个体,可通过分子标记辅助选择育种技术剔除ii及Ii基因型个体来提高群体羽色均一性,还可组建有色羽纯合群体以增加收益。展开更多
The pmel17 gene plays a crucial role in melanin pigmentation.Our previous studies showed that in Mozambique tilapia,a transposon inserted into the 3'untranslated region(3'UTR)of pmel17 resulted in the silencin...The pmel17 gene plays a crucial role in melanin pigmentation.Our previous studies showed that in Mozambique tilapia,a transposon inserted into the 3'untranslated region(3'UTR)of pmel17 resulted in the silencing of pmel17 and led to the loss of melanin pigments(golden mutant phenotype).Additionally,the transposon insertion caused reduced growth performance and increased locomotion.In this study,to investigate the mechanisms underlying these phenotypic changes,we sequenced transcriptomes of the skin and muscle samples collected from wildtype and mutant tilapias.A total of 51 and 141 differentially expressed genes(DEGs)were identified in the skin and muscle transcriptomes,respectively.DEGs in the skin were primarily down-regulated in golden genotypes and associated with neural crest development and melanin pigmentation pathways.Besides these DEGs involved in the classic melanin pigmentation pathway of vertebrates,14 DEGs were also observed to be related to melanogenesis.In muscle transcriptomes,there was an enrichment of GO terms associated with growth factors and cellular lipid catabolic processes.Specifically,DEGs related to growth factor binding exhibited a down-regulation,while those related to lipid metabolism showed an up-regulation in mutant genotypes.These findings agree with observed phenotypic changes.Furthermore,several DEGs associated with muscle function and mobility were up-regulated.Our study sheds light on how a single mutation in a gene can modulate multiple phenotypes by rewiring gene regulation networks.The research also provides valuable insights into the complex genetic mechanisms underlying the regulation of diverse phenotypic traits by a single gene.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 internal fund(5020)of the Temasek Life Sciences Laboratory,Singapore。
文摘The pmel17 gene plays a crucial role in melanin pigmentation.Our previous studies showed that in Mozambique tilapia,a transposon inserted into the 3'untranslated region(3'UTR)of pmel17 resulted in the silencing of pmel17 and led to the loss of melanin pigments(golden mutant phenotype).Additionally,the transposon insertion caused reduced growth performance and increased locomotion.In this study,to investigate the mechanisms underlying these phenotypic changes,we sequenced transcriptomes of the skin and muscle samples collected from wildtype and mutant tilapias.A total of 51 and 141 differentially expressed genes(DEGs)were identified in the skin and muscle transcriptomes,respectively.DEGs in the skin were primarily down-regulated in golden genotypes and associated with neural crest development and melanin pigmentation pathways.Besides these DEGs involved in the classic melanin pigmentation pathway of vertebrates,14 DEGs were also observed to be related to melanogenesis.In muscle transcriptomes,there was an enrichment of GO terms associated with growth factors and cellular lipid catabolic processes.Specifically,DEGs related to growth factor binding exhibited a down-regulation,while those related to lipid metabolism showed an up-regulation in mutant genotypes.These findings agree with observed phenotypic changes.Furthermore,several DEGs associated with muscle function and mobility were up-regulated.Our study sheds light on how a single mutation in a gene can modulate multiple phenotypes by rewiring gene regulation networks.The research also provides valuable insights into the complex genetic mechanisms underlying the regulation of diverse phenotypic traits by a single gene.
