Sex determination and sex differentiation are important phenomena in fish, but the mechanisms of sex determination in Takifugu rubripes are poorly understood. In our study, the expression patterns of genes for DMRTs ...Sex determination and sex differentiation are important phenomena in fish, but the mechanisms of sex determination in Takifugu rubripes are poorly understood. In our study, the expression patterns of genes for DMRTs （DMRT1, DMRT2 and DMRT3）,sox9a and sox9b in T. rubripes tissues were verified with the Reverse Transcription （RT）-PCR detection. It is showed that DMRT1 expressions in testis and ovaries were much lower, and no expressions were fotmd in muscle, blood and tailfin. However, expressions for DMRT2 and DMRT3 were not found in the tissues stated above. Transcripts of sox9a were detected in muscle, fin, ovary and testis, but not in blood, whereas sox9b expression was only detected in ovary. The expression patterns of DMRTs, sox9a and sox9b in T. rubripes gonads suggest that these genes may not be sex-specific.展开更多
DMRT基因家族是一个与性别决定有关的基因家族,其编码的转录因子DMRTs蛋白(除DMRT8外)均具有一个DM(double-sex and mab-3)结构域,并通过该结构域与DNA结合而发挥调控作用。目前研究表明,DMRT基因家族在性器官发育(如性别分化、性腺发...DMRT基因家族是一个与性别决定有关的基因家族,其编码的转录因子DMRTs蛋白(除DMRT8外)均具有一个DM(double-sex and mab-3)结构域,并通过该结构域与DNA结合而发挥调控作用。目前研究表明,DMRT基因家族在性器官发育(如性别分化、性腺发育、生殖细胞发育等)与性外器官发育(如肌肉软骨发育、神经系统发育等)中均具有重要作用;同时也有学者提出DMRTs可能参与肿瘤(如前列腺癌、乳腺癌、肺癌等)的发生和发展。本文综述了以人与小鼠为主的哺乳动物DMRTs/Dmrts的结构、在性器官发育与性外器官发育中的重要功能及其与肿瘤的关系的研究进展,提示DMRT基因家族在多器官发育及多种肿瘤发生和发展及治疗等过程中可能发挥作用,能够作为深入研究肿瘤发病机制与治疗策略的候选基因。展开更多
有性生殖是多细胞动物物种繁衍的普遍方式。本研究以大型淡水贝类中国圆田螺(Cipangopaludina chinensis)为例,从全基因组层面鉴定与中国圆田螺性别分化相关的Dmrt(double-sex and mab-3 relatated transcription factor)、Sox(sry-rela...有性生殖是多细胞动物物种繁衍的普遍方式。本研究以大型淡水贝类中国圆田螺(Cipangopaludina chinensis)为例,从全基因组层面鉴定与中国圆田螺性别分化相关的Dmrt(double-sex and mab-3 relatated transcription factor)、Sox(sry-related high mobility group box)和Wnt(wingless-type mmtv integration site family)基因家族并分析其特点、演化及在性腺中的表达模式。结果显示中国圆田螺CchDmrt、CchSox和CchWnt基因家族分别含有3个、5个和10个成员,主要分布于2号、3号、5号、7号和9号染色体上。选取腹足纲代表性物种构建系统进化树,结果显示Dmrt、Sox和Wnt各亚家族分布聚类在一起,其中中国圆田螺与铜锈环棱螺(Bellamya aeruginosa)亲缘关系最近。3个基因家族中,CchSox10、CchWnt5和CchWnt7受到正选择作用,相对进化速率较快。三维结构分析显示CchDmrt和CchWnt基因家族编码的蛋白质较为保守,而CchSox基因家族编码的蛋白质之间则存在一定差异性,提示其存在功能差异。雌雄性腺转录组表达分析显示,CchSox5、CchWnt2和CchWnt16在精巢中的表达量高于卵巢的,并形成差异表达基因,而CchDmrt4、CchSox2、CchSox10、CchSox12和CchFoxl2基因则相反,说明不同家族成员在性腺发育中的作用不同。选取差异表达基因进行实时定量PCR(real-time quantitative PCR,RT-qPCR)验证,结果与转录组结果一致。本研究鉴定了中国圆田螺Dmrt、Sox和Wnt等性别决定相关基因,为其功能研究和中国圆田螺遗传育种研究提供基础资料。展开更多
Dmrt(double-sex and mab-3 related transcription factor)基因家族编码的蛋白质是一类转录因子,具有保守的DM(double-sex/mab-3)结构域。在鱼类生长发育和进化中,Dmrt在多种生理过程尤其是性别决定和性腺发育方面起到至关重要的作用...Dmrt(double-sex and mab-3 related transcription factor)基因家族编码的蛋白质是一类转录因子,具有保守的DM(double-sex/mab-3)结构域。在鱼类生长发育和进化中,Dmrt在多种生理过程尤其是性别决定和性腺发育方面起到至关重要的作用。弓背青鳉(Oryzias curvinotus)和日本青鳉(O.latipes)均具有XX/XY性别决定系统和雄性决定基因dmrt1-bY/dmy(DM domain gene on Y chromosome),但是Dmrt基因家族在弓背青鳉中的作用尚不清楚。本研究利用生物信息学方法对弓背青鳉Dmrt基因家族的系统进化关系、基因结构、保守基序、保守结构域以及在不同组织中基因的表达水平进行分析,用实时定量PCR(real-time quantitative PCR,RT-qPCR)方法验证转录组信息。结果显示,弓背青鳉湛江群体中鉴定出Ocu_ZJ_dmrt1、Ocu_ZJ_dmy、Ocu_ZJ_dmrt2a、Ocu_ZJ_dmrt2b.1、Ocu_ZJ_dmrt2b.2、Ocu_ZJ_dmrt3、Ocu_ZJ_dmrtA1和Ocu_ZJ_dmrtA2,弓背青鳉三亚群体中鉴定出Ocu_SY_dmrt1、Ocu_SY_dmrt2a、Ocu_SY_dmrt2b、Ocu_SY_dmrt3、Ocu_SY_dmrtA1和Ocu_SY_dmrtA2。保守结构域分析显示,14个Dmrt蛋白质序列均具有DM保守结构域。利用弓背青鳉湛江群体胚胎发育转录组以及湛江和三亚群体雌雄性腺转录组数据对Dmrt基因家族进行表达水平分析,结果显示,Dmrt基因家族在胚胎各个发育时期表达不一,在两个群体的性腺中均有表达,其中Ocu_ZJ_dmy、Ocu_ZJ_dmrt1和Ocu_SY_dmrt1在雄性高表达,Ocu_ZJ_dmrt2a和Ocu_SY_dmrt2a在雌性性腺表达更高,三亚群体未检测到dmy的表达。通过RT-qPCR验证了11个差异表达基因(differentially expressed genes,DEGs)的RNA-seq数据的可靠性。本研究为青鳉属物种Dmrt基因家族的研究提供必要的基础数据,为更好地认识Dmrt基因家族在弓背青鳉性别决定和性腺、胚胎发育中的作用提供参考。展开更多
Chakouyi(CKY)horses from the Qinghai-Xizang Plateau are well known for their unique lateral gaits and high-altitude adaptation,but genetic mechanisms underlying these phenotypes remain unclear.This study presents a co...Chakouyi(CKY)horses from the Qinghai-Xizang Plateau are well known for their unique lateral gaits and high-altitude adaptation,but genetic mechanisms underlying these phenotypes remain unclear.This study presents a comparison of 60 newly resequenced genomes of gaited CKY horses with 139 public genomes from 19 horse breeds.Population structure analyses(admixture,PCA,and neighbor-joining tree)reveal a close genetic relationship between CKY and other highland breeds(Tibetan and Chaidamu horses).Compared with other Chinese breeds,CKY horses present reduced nucleotide diversity(θπ)and lower inbreeding(FROHcoefficient),suggesting possible selective pressures.A key region on chromosome 23(Chr23:22.3-22.6 Mb)is associated with the lateral gaits and harbors a highly prevalent nonsense mutation(Chr 23:22,391,254 C>A,Ser301STOP)in the DMRT3 gene,with an 88%homozygosity rate,which is strongly correlated with the distinctive gait of CKY horses.Furthermore,selection signals reveal that the EPAS1 gene is related to high-altitude adaptation,and the CAT gene contributes to altitude resilience in CKY horses.These findings suggest that preserving genetic diversity is essential for maintaining the unique gaits and high-altitude adaptations of CKY horses.展开更多
Dmrt(Double sex and Mab-3 related transcription factor)基因是一类含有高度保守的DM(Double sex and Mab-3)结构域的基因家族,该基因家族的很多成员都参与了性别决定和分化过程的调控。目前已研究了很多物种的Dmrt基因,但对于具有...Dmrt(Double sex and Mab-3 related transcription factor)基因是一类含有高度保守的DM(Double sex and Mab-3)结构域的基因家族,该基因家族的很多成员都参与了性别决定和分化过程的调控。目前已研究了很多物种的Dmrt基因,但对于具有重要进化地位和经济价值的贝类,却鲜见相关报道。Dmrt5作为Dmrt基因家族的重要成员,是否也参与了动物的性别决定与分化的调控,至今为止没有定论。采用RACE-PCR技术,从马氏珠母贝(Pinctadamatensii,Dunker)精巢的SMARTcDNA中克隆了Dmrt5基因的全长cDNA序列。同源性比对显示,pmDmrt5编码的氨基酸序列与海胆、线虫、青鳉、斑马鱼、爪蟾和小鼠的Dmrt5基因的一致性分别为17.2%、26.7%、24.8%、18.7%、20.8%和15.8%。虽然各个物种间同源性并不高,但他们的DM结构域是高度保守的。RT-PCR结果表明,pmDm-rt5基因在雄性性腺中的表达量显著高于鳃、外套膜、闭壳肌、消化盲囊和雌性性腺;在早期雄性性腺、成熟期雄性性腺中的表达量显著高于性腺发育其他时期。这意味着pmDmrt5基因可能参与了马氏珠母贝性别发育的调控。展开更多
文摘Sex determination and sex differentiation are important phenomena in fish, but the mechanisms of sex determination in Takifugu rubripes are poorly understood. In our study, the expression patterns of genes for DMRTs （DMRT1, DMRT2 and DMRT3）,sox9a and sox9b in T. rubripes tissues were verified with the Reverse Transcription （RT）-PCR detection. It is showed that DMRT1 expressions in testis and ovaries were much lower, and no expressions were fotmd in muscle, blood and tailfin. However, expressions for DMRT2 and DMRT3 were not found in the tissues stated above. Transcripts of sox9a were detected in muscle, fin, ovary and testis, but not in blood, whereas sox9b expression was only detected in ovary. The expression patterns of DMRTs, sox9a and sox9b in T. rubripes gonads suggest that these genes may not be sex-specific.
基金supported by the Science and Technology Department of Henan Province,China(No.222102310186,162102310523)the College Students’Innovation and Entrepreneurship Training Program Projects of Zhengzhou University,China(No.2021cxcy290)。
文摘DMRT基因家族是一个与性别决定有关的基因家族,其编码的转录因子DMRTs蛋白(除DMRT8外)均具有一个DM(double-sex and mab-3)结构域,并通过该结构域与DNA结合而发挥调控作用。目前研究表明,DMRT基因家族在性器官发育(如性别分化、性腺发育、生殖细胞发育等)与性外器官发育(如肌肉软骨发育、神经系统发育等)中均具有重要作用;同时也有学者提出DMRTs可能参与肿瘤(如前列腺癌、乳腺癌、肺癌等)的发生和发展。本文综述了以人与小鼠为主的哺乳动物DMRTs/Dmrts的结构、在性器官发育与性外器官发育中的重要功能及其与肿瘤的关系的研究进展,提示DMRT基因家族在多器官发育及多种肿瘤发生和发展及治疗等过程中可能发挥作用,能够作为深入研究肿瘤发病机制与治疗策略的候选基因。
文摘有性生殖是多细胞动物物种繁衍的普遍方式。本研究以大型淡水贝类中国圆田螺(Cipangopaludina chinensis)为例,从全基因组层面鉴定与中国圆田螺性别分化相关的Dmrt(double-sex and mab-3 relatated transcription factor)、Sox(sry-related high mobility group box)和Wnt(wingless-type mmtv integration site family)基因家族并分析其特点、演化及在性腺中的表达模式。结果显示中国圆田螺CchDmrt、CchSox和CchWnt基因家族分别含有3个、5个和10个成员,主要分布于2号、3号、5号、7号和9号染色体上。选取腹足纲代表性物种构建系统进化树,结果显示Dmrt、Sox和Wnt各亚家族分布聚类在一起,其中中国圆田螺与铜锈环棱螺(Bellamya aeruginosa)亲缘关系最近。3个基因家族中,CchSox10、CchWnt5和CchWnt7受到正选择作用,相对进化速率较快。三维结构分析显示CchDmrt和CchWnt基因家族编码的蛋白质较为保守,而CchSox基因家族编码的蛋白质之间则存在一定差异性,提示其存在功能差异。雌雄性腺转录组表达分析显示,CchSox5、CchWnt2和CchWnt16在精巢中的表达量高于卵巢的,并形成差异表达基因,而CchDmrt4、CchSox2、CchSox10、CchSox12和CchFoxl2基因则相反,说明不同家族成员在性腺发育中的作用不同。选取差异表达基因进行实时定量PCR(real-time quantitative PCR,RT-qPCR)验证,结果与转录组结果一致。本研究鉴定了中国圆田螺Dmrt、Sox和Wnt等性别决定相关基因,为其功能研究和中国圆田螺遗传育种研究提供基础资料。
文摘Dmrt(double-sex and mab-3 related transcription factor)基因家族编码的蛋白质是一类转录因子,具有保守的DM(double-sex/mab-3)结构域。在鱼类生长发育和进化中,Dmrt在多种生理过程尤其是性别决定和性腺发育方面起到至关重要的作用。弓背青鳉(Oryzias curvinotus)和日本青鳉(O.latipes)均具有XX/XY性别决定系统和雄性决定基因dmrt1-bY/dmy(DM domain gene on Y chromosome),但是Dmrt基因家族在弓背青鳉中的作用尚不清楚。本研究利用生物信息学方法对弓背青鳉Dmrt基因家族的系统进化关系、基因结构、保守基序、保守结构域以及在不同组织中基因的表达水平进行分析,用实时定量PCR(real-time quantitative PCR,RT-qPCR)方法验证转录组信息。结果显示,弓背青鳉湛江群体中鉴定出Ocu_ZJ_dmrt1、Ocu_ZJ_dmy、Ocu_ZJ_dmrt2a、Ocu_ZJ_dmrt2b.1、Ocu_ZJ_dmrt2b.2、Ocu_ZJ_dmrt3、Ocu_ZJ_dmrtA1和Ocu_ZJ_dmrtA2,弓背青鳉三亚群体中鉴定出Ocu_SY_dmrt1、Ocu_SY_dmrt2a、Ocu_SY_dmrt2b、Ocu_SY_dmrt3、Ocu_SY_dmrtA1和Ocu_SY_dmrtA2。保守结构域分析显示,14个Dmrt蛋白质序列均具有DM保守结构域。利用弓背青鳉湛江群体胚胎发育转录组以及湛江和三亚群体雌雄性腺转录组数据对Dmrt基因家族进行表达水平分析,结果显示,Dmrt基因家族在胚胎各个发育时期表达不一,在两个群体的性腺中均有表达,其中Ocu_ZJ_dmy、Ocu_ZJ_dmrt1和Ocu_SY_dmrt1在雄性高表达,Ocu_ZJ_dmrt2a和Ocu_SY_dmrt2a在雌性性腺表达更高,三亚群体未检测到dmy的表达。通过RT-qPCR验证了11个差异表达基因(differentially expressed genes,DEGs)的RNA-seq数据的可靠性。本研究为青鳉属物种Dmrt基因家族的研究提供必要的基础数据,为更好地认识Dmrt基因家族在弓背青鳉性别决定和性腺、胚胎发育中的作用提供参考。
基金the members of the Extending Station for Animal Husbandry and Veterinary Technology of Tianzhu Xizang Autonomous County for their help in sample collection and data acquisition.This research was supported by the Supercomputing Center of Lanzhou University and the Chakouyi horse conservation project from the Tianzhu Xizang Autonomous County Government([20]0097).
文摘Chakouyi(CKY)horses from the Qinghai-Xizang Plateau are well known for their unique lateral gaits and high-altitude adaptation,but genetic mechanisms underlying these phenotypes remain unclear.This study presents a comparison of 60 newly resequenced genomes of gaited CKY horses with 139 public genomes from 19 horse breeds.Population structure analyses(admixture,PCA,and neighbor-joining tree)reveal a close genetic relationship between CKY and other highland breeds(Tibetan and Chaidamu horses).Compared with other Chinese breeds,CKY horses present reduced nucleotide diversity(θπ)and lower inbreeding(FROHcoefficient),suggesting possible selective pressures.A key region on chromosome 23(Chr23:22.3-22.6 Mb)is associated with the lateral gaits and harbors a highly prevalent nonsense mutation(Chr 23:22,391,254 C>A,Ser301STOP)in the DMRT3 gene,with an 88%homozygosity rate,which is strongly correlated with the distinctive gait of CKY horses.Furthermore,selection signals reveal that the EPAS1 gene is related to high-altitude adaptation,and the CAT gene contributes to altitude resilience in CKY horses.These findings suggest that preserving genetic diversity is essential for maintaining the unique gaits and high-altitude adaptations of CKY horses.
文摘Dmrt(Double sex and Mab-3 related transcription factor)基因是一类含有高度保守的DM(Double sex and Mab-3)结构域的基因家族,该基因家族的很多成员都参与了性别决定和分化过程的调控。目前已研究了很多物种的Dmrt基因,但对于具有重要进化地位和经济价值的贝类,却鲜见相关报道。Dmrt5作为Dmrt基因家族的重要成员,是否也参与了动物的性别决定与分化的调控,至今为止没有定论。采用RACE-PCR技术,从马氏珠母贝(Pinctadamatensii,Dunker)精巢的SMARTcDNA中克隆了Dmrt5基因的全长cDNA序列。同源性比对显示,pmDmrt5编码的氨基酸序列与海胆、线虫、青鳉、斑马鱼、爪蟾和小鼠的Dmrt5基因的一致性分别为17.2%、26.7%、24.8%、18.7%、20.8%和15.8%。虽然各个物种间同源性并不高,但他们的DM结构域是高度保守的。RT-PCR结果表明,pmDm-rt5基因在雄性性腺中的表达量显著高于鳃、外套膜、闭壳肌、消化盲囊和雌性性腺;在早期雄性性腺、成熟期雄性性腺中的表达量显著高于性腺发育其他时期。这意味着pmDmrt5基因可能参与了马氏珠母贝性别发育的调控。
