Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in m...Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in muscle, liver and fat is a prominent feature of most patients with T2DM and obesity, resulting in a reduced response of these tissues to insulin. Considerable evidence has been accumulated to indicate that heredity is a major determinant of insulin resistance and T2DM. It is believed that, among individuals destined to develop T2DM, hyperinsulinemia is the mechanism by which the pancreatic β-cell initially compensates for deteriorating peripheral insulin sensitivity, thus ensuring normal glucose tolerance. Most of these people will develop T2DM when β-cells fail to compensate. Despite the progress achieved in this field in recent years, the genetic causes of insulin resistance and T2DM remain elusive.Candidate gene association, linkage and genome-wide association studies have highlighted the role of genetic factors in the development of T2DM. Using these strategies, a large number of variants have been identified in many of these genes, most of which may influence both hepatic and peripheral insulin resistance, adipogenesis and β-cell mass and function. Recently, a new gene has been identified by our research group, the HMGA1 gene, whose loss of function can greatly raise the risk of developing T2DM in humans and mice. Functional genetic variants of the HMGA1 gene have been associated with insulin resistance syndromes among white Europeans, Chinese individuals and Americans of Hispanic ancestry. These findings may represent new ways to improve or even prevent T2DM.展开更多
【目的】挖掘与油菜角果长度性状显著相关的SNP位点及候选基因,为揭示油菜角果长度性状的遗传基础和分子机制提供理论依据,为油菜产量分子标记辅助选择育种奠定基础。【方法】在江西农业大学试验地和江西省红壤研究所试验地2个环境下考...【目的】挖掘与油菜角果长度性状显著相关的SNP位点及候选基因,为揭示油菜角果长度性状的遗传基础和分子机制提供理论依据,为油菜产量分子标记辅助选择育种奠定基础。【方法】在江西农业大学试验地和江西省红壤研究所试验地2个环境下考察300份甘蓝型油菜自交系的角果长度性状,利用简化基因组测序技术(specific locus amplified fragment sequencing,SLAF-seq)对300份甘蓝型油菜自交系基因组DNA进行测序并分析,利用获得的均匀分布于甘蓝型油菜基因组上的201 817个群体SNP(single nucleotide polymorphism,SNP)对角果长度性状进行全基因组关联分析(genome-wide association study,GWAS),探测与油菜角果长度显著相关的SNP位点,并基于群体连锁不平衡分析结果搜寻显著SNP位点两侧100 kb范围内的基因,通过BLAST获得关联区域内基因的注释信息,根据注释信息找出与性状相关的候选基因。【结果】农大试验地角果长度表型变异幅度为46.35—107.07 mm;红壤所试验地角果长度表型变异幅度为39.41—101.35 mm,两性状在2个环境下均表现出广泛表型变异。通过一般线性模型(general linear model,GLM)关联分析,农大环境下共检测到121个角果长度显著关联的SNP位点,分布在A04、A06、A08、A09、C02、C03、C06和C09等8条染色体上,其中,A09染色体上分布最多(83个SNP),红壤所环境下检测到22个角果长度显著关联的SNP位点,其中,1个在C09染色体上,其余21个均分布于A09染色体,在两地探测到20个一致性SNP位点;通过混合线性模型(mixed linear model,MLM)分析,农大环境下共检测到5个角果长度显著关联的SNP位点,其中,3个SNP位点与红壤所环境下检测到3个SNP位点一致,所有位点均位于A09染色体上。对MLM关联分析得到的显著SNP位点两侧100 kb区域内基因进行搜寻并进行功能注释,发现多个候选基因参与调节碳水化合物的运输与合成、花器官和种�展开更多
为研究不同尾型绵羊群体遗传分化程度,检测全基因组选择信号,以挖掘不同尾型绵羊重要性状相关的候选基因。本研究基于蒙古羊(短脂尾)和藏羊(瘦尾)群体的Illumina Ovine SNP 50K芯片分型数据,借助遗传分化系数FST法进行群体间选择信号检...为研究不同尾型绵羊群体遗传分化程度,检测全基因组选择信号,以挖掘不同尾型绵羊重要性状相关的候选基因。本研究基于蒙古羊(短脂尾)和藏羊(瘦尾)群体的Illumina Ovine SNP 50K芯片分型数据,借助遗传分化系数FST法进行群体间选择信号检测,寻找选择信号区域内的重要基因,并对其中与脂肪代谢相关的基因PPARG、PDGFD在呼伦贝尔羊(大尾和小尾品系;肥尾)与藏羊(瘦尾)尾脂进行mRNA相对表达量研究。结果,(1)465个SNPs被选择,基因注释找到448个候选基因,筛选到50个与脂类代谢相关的基因,GO功能富集分析发现,主要富集在脂类生物合成过程、磷脂代谢、脂质结合等条目,此外发现4个基因(PPARG、RXRG、SLC27A2和ACSL6)富集到PPAR信号通路。(2)肥瘦尾之间,呼伦贝尔羊(大尾和小尾品系)PPARG和PDGFD基因表达量均显著高于藏羊(P<0.01),而大小肥尾之间,呼伦贝尔羊大尾品系PPARG基因表达量显著高于小尾品系(P<0.05),PDGFD基因表达量则无明显差异。通过FST法有效检测到受选择的基因,部分与绵羊重要性状相关,相对定量试验证明PPARG和PDGFD基因与尾部脂肪沉积密切相关,可以作为尾型选育的候选基因,为绵羊育种及改良提供重要参考。展开更多
文摘Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in muscle, liver and fat is a prominent feature of most patients with T2DM and obesity, resulting in a reduced response of these tissues to insulin. Considerable evidence has been accumulated to indicate that heredity is a major determinant of insulin resistance and T2DM. It is believed that, among individuals destined to develop T2DM, hyperinsulinemia is the mechanism by which the pancreatic β-cell initially compensates for deteriorating peripheral insulin sensitivity, thus ensuring normal glucose tolerance. Most of these people will develop T2DM when β-cells fail to compensate. Despite the progress achieved in this field in recent years, the genetic causes of insulin resistance and T2DM remain elusive.Candidate gene association, linkage and genome-wide association studies have highlighted the role of genetic factors in the development of T2DM. Using these strategies, a large number of variants have been identified in many of these genes, most of which may influence both hepatic and peripheral insulin resistance, adipogenesis and β-cell mass and function. Recently, a new gene has been identified by our research group, the HMGA1 gene, whose loss of function can greatly raise the risk of developing T2DM in humans and mice. Functional genetic variants of the HMGA1 gene have been associated with insulin resistance syndromes among white Europeans, Chinese individuals and Americans of Hispanic ancestry. These findings may represent new ways to improve or even prevent T2DM.
文摘【目的】挖掘与油菜角果长度性状显著相关的SNP位点及候选基因,为揭示油菜角果长度性状的遗传基础和分子机制提供理论依据,为油菜产量分子标记辅助选择育种奠定基础。【方法】在江西农业大学试验地和江西省红壤研究所试验地2个环境下考察300份甘蓝型油菜自交系的角果长度性状,利用简化基因组测序技术(specific locus amplified fragment sequencing,SLAF-seq)对300份甘蓝型油菜自交系基因组DNA进行测序并分析,利用获得的均匀分布于甘蓝型油菜基因组上的201 817个群体SNP(single nucleotide polymorphism,SNP)对角果长度性状进行全基因组关联分析(genome-wide association study,GWAS),探测与油菜角果长度显著相关的SNP位点,并基于群体连锁不平衡分析结果搜寻显著SNP位点两侧100 kb范围内的基因,通过BLAST获得关联区域内基因的注释信息,根据注释信息找出与性状相关的候选基因。【结果】农大试验地角果长度表型变异幅度为46.35—107.07 mm;红壤所试验地角果长度表型变异幅度为39.41—101.35 mm,两性状在2个环境下均表现出广泛表型变异。通过一般线性模型(general linear model,GLM)关联分析,农大环境下共检测到121个角果长度显著关联的SNP位点,分布在A04、A06、A08、A09、C02、C03、C06和C09等8条染色体上,其中,A09染色体上分布最多(83个SNP),红壤所环境下检测到22个角果长度显著关联的SNP位点,其中,1个在C09染色体上,其余21个均分布于A09染色体,在两地探测到20个一致性SNP位点;通过混合线性模型(mixed linear model,MLM)分析,农大环境下共检测到5个角果长度显著关联的SNP位点,其中,3个SNP位点与红壤所环境下检测到3个SNP位点一致,所有位点均位于A09染色体上。对MLM关联分析得到的显著SNP位点两侧100 kb区域内基因进行搜寻并进行功能注释,发现多个候选基因参与调节碳水化合物的运输与合成、花器官和种�
文摘为研究不同尾型绵羊群体遗传分化程度,检测全基因组选择信号,以挖掘不同尾型绵羊重要性状相关的候选基因。本研究基于蒙古羊(短脂尾)和藏羊(瘦尾)群体的Illumina Ovine SNP 50K芯片分型数据,借助遗传分化系数FST法进行群体间选择信号检测,寻找选择信号区域内的重要基因,并对其中与脂肪代谢相关的基因PPARG、PDGFD在呼伦贝尔羊(大尾和小尾品系;肥尾)与藏羊(瘦尾)尾脂进行mRNA相对表达量研究。结果,(1)465个SNPs被选择,基因注释找到448个候选基因,筛选到50个与脂类代谢相关的基因,GO功能富集分析发现,主要富集在脂类生物合成过程、磷脂代谢、脂质结合等条目,此外发现4个基因(PPARG、RXRG、SLC27A2和ACSL6)富集到PPAR信号通路。(2)肥瘦尾之间,呼伦贝尔羊(大尾和小尾品系)PPARG和PDGFD基因表达量均显著高于藏羊(P<0.01),而大小肥尾之间,呼伦贝尔羊大尾品系PPARG基因表达量显著高于小尾品系(P<0.05),PDGFD基因表达量则无明显差异。通过FST法有效检测到受选择的基因,部分与绵羊重要性状相关,相对定量试验证明PPARG和PDGFD基因与尾部脂肪沉积密切相关,可以作为尾型选育的候选基因,为绵羊育种及改良提供重要参考。
