本研究对青海高原牦牛PRDM16(PR domain containing 16)基因部分编码区进行克隆及生物信息学分析,同时对PRDM16基因在雌、雄牦牛背最长肌肌肉组织中的表达差异进行了分析。选取雌、雄青海高原牦牛各5头,屠宰后采集背最长肌肌肉组织,克...本研究对青海高原牦牛PRDM16(PR domain containing 16)基因部分编码区进行克隆及生物信息学分析,同时对PRDM16基因在雌、雄牦牛背最长肌肌肉组织中的表达差异进行了分析。选取雌、雄青海高原牦牛各5头,屠宰后采集背最长肌肌肉组织,克隆牦牛PRDM16基因部分CDS区序列,分析其生物信息学特征;应用实时荧光定量PCR技术检测PRDM16基因在雌、雄牦牛肌肉组织中表达水平。结果显示:克隆所得片段序列长323bp,与黄牛同源性为100%,编码99个氨基酸,具有MDS1-EVI1(complex locus protein MDS1)家族蛋白功能,具有CATH蛋白功能活性,包含卷曲螺旋等典型结构域,与人甲基转移酶蛋白结构域PR蛋白1有20%的相似性;PRDM16基因在雌性牦牛肌肉组织中表达水平极显著高于雄性牦牛(P<0.01)。本试验结果为进步一研究青海高原牦牛PRDM16基因奠定了基础,为牦牛肉品质分析提供参考。展开更多
目的探讨中国西南地区汉族人群中PRDM16、TRPM8、TSPAN2及MMP16等基因多态性与无先兆偏头痛遗传易感性关系。方法共收集512例无先兆偏头痛和535例健康正常对照,运用病例-对照分析,荟萃分析目前国内外报道的全基因组关联分析(genome-wide...目的探讨中国西南地区汉族人群中PRDM16、TRPM8、TSPAN2及MMP16等基因多态性与无先兆偏头痛遗传易感性关系。方法共收集512例无先兆偏头痛和535例健康正常对照,运用病例-对照分析,荟萃分析目前国内外报道的全基因组关联分析(genome-wide association studies,GWAS),单碱基延伸法(SNa Pshot)进行多个基因11个SNP位点的基因分型。结果 rs2651899(PRDM16),rs10166942(TRPM8),rs12134493(TSPAN2)和rs10504861(MMP16)与无先兆偏头痛发病具相关性。结论本研究重复了以前GWAS结果,PRDM16,TRPM8,TSPAN2,MMP16基因的SNP位点与无先兆偏头痛发病相关。展开更多
Environmental temperature serves as a major driver of adaptive changes in wild organisms.To discover the mechanisms underpinning cold tolerance in domestic animals,we sequenced the genomes of 28 cattle from warm and c...Environmental temperature serves as a major driver of adaptive changes in wild organisms.To discover the mechanisms underpinning cold tolerance in domestic animals,we sequenced the genomes of 28 cattle from warm and cold areas across China.By characterizing the population structure and demographic history,we identified two genetic clusters,i.e.,northern and southern groups,as well as a common historic population peak at 30 kilo years ago.Genomic scan of cold-tolerant breeds determined potential candidate genes in the thermogenesis-related pathways that were under selection.Specifically,functional analysis identified a substitution of PRDM16(p.P779 L)in northern cattle,which maintains brown adipocyte formation by boosting thermogenesis-related gene expression,indicating a vital role of this gene in cold tolerance.These findings provide a basis for genetic variation in domestic cattle shaped by environmental temperature and highlight the role of reverse mutation in livestock species.展开更多
文摘本研究对青海高原牦牛PRDM16(PR domain containing 16)基因部分编码区进行克隆及生物信息学分析,同时对PRDM16基因在雌、雄牦牛背最长肌肌肉组织中的表达差异进行了分析。选取雌、雄青海高原牦牛各5头,屠宰后采集背最长肌肌肉组织,克隆牦牛PRDM16基因部分CDS区序列,分析其生物信息学特征;应用实时荧光定量PCR技术检测PRDM16基因在雌、雄牦牛肌肉组织中表达水平。结果显示:克隆所得片段序列长323bp,与黄牛同源性为100%,编码99个氨基酸,具有MDS1-EVI1(complex locus protein MDS1)家族蛋白功能,具有CATH蛋白功能活性,包含卷曲螺旋等典型结构域,与人甲基转移酶蛋白结构域PR蛋白1有20%的相似性;PRDM16基因在雌性牦牛肌肉组织中表达水平极显著高于雄性牦牛(P<0.01)。本试验结果为进步一研究青海高原牦牛PRDM16基因奠定了基础,为牦牛肉品质分析提供参考。
文摘目的探讨中国西南地区汉族人群中PRDM16、TRPM8、TSPAN2及MMP16等基因多态性与无先兆偏头痛遗传易感性关系。方法共收集512例无先兆偏头痛和535例健康正常对照,运用病例-对照分析,荟萃分析目前国内外报道的全基因组关联分析(genome-wide association studies,GWAS),单碱基延伸法(SNa Pshot)进行多个基因11个SNP位点的基因分型。结果 rs2651899(PRDM16),rs10166942(TRPM8),rs12134493(TSPAN2)和rs10504861(MMP16)与无先兆偏头痛发病具相关性。结论本研究重复了以前GWAS结果,PRDM16,TRPM8,TSPAN2,MMP16基因的SNP位点与无先兆偏头痛发病相关。
基金supported by the General Program(Major Research Plan)of National Natural Science Foundation of China(92057208)National Key Research and Development Program of China(2018YFD0501702)+4 种基金Youth Program of the National Natural Science Foundation of China(31900830)National Natural Science Foundation of China(81770834)Jilin Provincial Development and Reform Commission Budget Capital Construction Fund Project(2018M640182)111 Project(D20034)China Postdoctoral Science Foundation Funded Project(2018M640182 to J.L.)。
文摘Environmental temperature serves as a major driver of adaptive changes in wild organisms.To discover the mechanisms underpinning cold tolerance in domestic animals,we sequenced the genomes of 28 cattle from warm and cold areas across China.By characterizing the population structure and demographic history,we identified two genetic clusters,i.e.,northern and southern groups,as well as a common historic population peak at 30 kilo years ago.Genomic scan of cold-tolerant breeds determined potential candidate genes in the thermogenesis-related pathways that were under selection.Specifically,functional analysis identified a substitution of PRDM16(p.P779 L)in northern cattle,which maintains brown adipocyte formation by boosting thermogenesis-related gene expression,indicating a vital role of this gene in cold tolerance.These findings provide a basis for genetic variation in domestic cattle shaped by environmental temperature and highlight the role of reverse mutation in livestock species.
