为初步探究MITF基因表达和绵羊季节性发情及产羔数的关系,本试验以季节性发情的苏尼特羊(Sunite sheep,SNT)和常年发情的小尾寒羊(Small Tail Han sheep,STH)为研究对象,利用实时荧光定量PCR(qPCR)技术分析SNT在不同光照条件下(短光照...为初步探究MITF基因表达和绵羊季节性发情及产羔数的关系,本试验以季节性发情的苏尼特羊(Sunite sheep,SNT)和常年发情的小尾寒羊(Small Tail Han sheep,STH)为研究对象,利用实时荧光定量PCR(qPCR)技术分析SNT在不同光照条件下(短光照、长光照)及STH不同繁殖时期(卵泡期、黄体期)的下丘脑等组织中MITF基因的表达差异及该基因在STH单、多羔母羊卵泡期繁殖器官(卵巢、子宫体、输卵管)中的表达差异。结果表明:1)MITF基因在2个绵羊品种的不同组织中广泛表达且繁殖器官(卵巢、子宫体和输卵管)中该基因表达量较高;2)在长光照条件下SNT垂体中MITF表达量极显著高于短光照条件下表达量(P<0.01);3)STH卵巢中MITF表达量在卵泡期极显著高于黄体期(P<0.01),而子宫体、输卵管中该基因表达量在黄体期显著(P<0.05)或极显著(P<0.01)高于卵泡期;4)单羔组STH子宫体、输卵管中MITF表达水平极显著(P<0.01)或显著(P<0.05)高于多羔组。综上,MITF基因表达与绵羊季节性发情及产羔数存在一定关联,需要进一步进行生物学功能验证。展开更多
Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家...Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家系成员均进行基因测序分析。基因检测结果表明患儿存在MITF基因的c.970_972del(p.R324del)杂合变异,为新生变异;患儿父母该位点均无变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判读该变异为致病变异。MITF基因c.970_972del(p.R324del)在WS2A型中为一新发突变位点,是导致该患儿患病的致病基因。展开更多
Coat color is a key economic trait in sheep. Some candidate genes associated with animal＇s coat color were found. Partic- ularly, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog （KIT） and microphthalm...Coat color is a key economic trait in sheep. Some candidate genes associated with animal＇s coat color were found. Partic- ularly, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog （KIT） and microphthalmia-associated transcription factor （MITF） play a key role in the modulation of hair pigmentation in mammals. This study investigated those two candidate genes＇ mutations and expressions associated with wool color in Tibetan sheep. First, the gene polymorphisms of those two genes were analyzed, and then, relative mRNA expression levels of those two genes in skin tissue with different coat colors were compared. Thirdly, KIT and MITF protein expression levels were detected through Western blot and immune- histochemical. Allele C was predominant allele in the white coat color Tibetan sheep population of the MITF coding region g. 1548 C/T loci. The relative MITF mRNA expression in black coat skin tissue was significantly higher than white （P〈0.01）. However, no significant differences were detected in the KIT gene＇s mRNA expression of these two different coat color skin tissues （P〉0.05）, while the level of KIT protein expression in skin tissues of white and black coats was also roughly equivalent. Our study observed that, the level of MITF protein expression in black coat skin tissue was significantly higher than that in white coat skin tissue, and positive staining for MITF protein expression was detected mainly in the epidermis and the dermal papilla, bulb, and outer root sheath of hair follicles. We conclude that the black coat of Tibetan sheep is related to high MITF expression in the hair follicles, and MITF may be important for coat color formation of Tibetan sheep.展开更多
文摘为初步探究MITF基因表达和绵羊季节性发情及产羔数的关系,本试验以季节性发情的苏尼特羊(Sunite sheep,SNT)和常年发情的小尾寒羊(Small Tail Han sheep,STH)为研究对象,利用实时荧光定量PCR(qPCR)技术分析SNT在不同光照条件下(短光照、长光照)及STH不同繁殖时期(卵泡期、黄体期)的下丘脑等组织中MITF基因的表达差异及该基因在STH单、多羔母羊卵泡期繁殖器官(卵巢、子宫体、输卵管)中的表达差异。结果表明:1)MITF基因在2个绵羊品种的不同组织中广泛表达且繁殖器官(卵巢、子宫体和输卵管)中该基因表达量较高;2)在长光照条件下SNT垂体中MITF表达量极显著高于短光照条件下表达量(P<0.01);3)STH卵巢中MITF表达量在卵泡期极显著高于黄体期(P<0.01),而子宫体、输卵管中该基因表达量在黄体期显著(P<0.05)或极显著(P<0.01)高于卵泡期;4)单羔组STH子宫体、输卵管中MITF表达水平极显著(P<0.01)或显著(P<0.05)高于多羔组。综上,MITF基因表达与绵羊季节性发情及产羔数存在一定关联,需要进一步进行生物学功能验证。
文摘Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家系成员均进行基因测序分析。基因检测结果表明患儿存在MITF基因的c.970_972del(p.R324del)杂合变异,为新生变异;患儿父母该位点均无变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判读该变异为致病变异。MITF基因c.970_972del(p.R324del)在WS2A型中为一新发突变位点,是导致该患儿患病的致病基因。
基金sponsored by the Earmarked Fund for Modern China Wool & Cashmere Technology Research System, China (CARS-40-03)
文摘Coat color is a key economic trait in sheep. Some candidate genes associated with animal＇s coat color were found. Partic- ularly, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog （KIT） and microphthalmia-associated transcription factor （MITF） play a key role in the modulation of hair pigmentation in mammals. This study investigated those two candidate genes＇ mutations and expressions associated with wool color in Tibetan sheep. First, the gene polymorphisms of those two genes were analyzed, and then, relative mRNA expression levels of those two genes in skin tissue with different coat colors were compared. Thirdly, KIT and MITF protein expression levels were detected through Western blot and immune- histochemical. Allele C was predominant allele in the white coat color Tibetan sheep population of the MITF coding region g. 1548 C/T loci. The relative MITF mRNA expression in black coat skin tissue was significantly higher than white （P〈0.01）. However, no significant differences were detected in the KIT gene＇s mRNA expression of these two different coat color skin tissues （P〉0.05）, while the level of KIT protein expression in skin tissues of white and black coats was also roughly equivalent. Our study observed that, the level of MITF protein expression in black coat skin tissue was significantly higher than that in white coat skin tissue, and positive staining for MITF protein expression was detected mainly in the epidermis and the dermal papilla, bulb, and outer root sheath of hair follicles. We conclude that the black coat of Tibetan sheep is related to high MITF expression in the hair follicles, and MITF may be important for coat color formation of Tibetan sheep.
