Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></spa...Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></span><span style="font-family:Verdana;">) is a primitive freshwater fish and a source of black caviar.</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">The genes involved in sexual determination and differentiation are still unknown and there are no molecular markers for sex identification in this species. Studying the variation of the sex-based differences in genomic sequences and in gene expression in the sturgeon may lead to markers of sex in early stages of development and advances in aquaculture, as well as provide novel insights about the evolution of reproduction, sex determination, and sexual differentiation mechanisms in vertebrates. Previous studies by our and other groups have identified differentially expressed genes in the gonads of adult female and male sturgeon. The current study aimed to test whether these ge</span><span style="font-family:Verdana;">nes were also differentially expressed in non-gonadal tissue, namely fins. We measured by qRT-PCR the mRNA levels of 29 known and novel sex-related genes in the gonads and fins of males (4 years old) and females (7 years old;sexual maturation is earlier in males than in females). Six genes (ATP6, IGFRM, LIA1A, S1A, NPL1A, GAPDH and SOX9) showed higher expression in female fin</span><span style="font-family:Verdana;">s. However, only ATP6 mRNA levels differed in fins of males and females of the same age (4 years old). These findings underscore the impracticality of sex identification based on gene expression in non-gonadal</span><span style="font-family:Verdana;"> tissue and the need for genetic sex markers in the Russian sturgeon.展开更多
45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核...45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。展开更多
The aim of the present study was to investigate the long-term effects of 17β-estradiol(E2) exposure on gonadal development in the tiger puffer( Takifugu rubripe s), which has a genetic sex determination system of mal...The aim of the present study was to investigate the long-term effects of 17β-estradiol(E2) exposure on gonadal development in the tiger puffer( Takifugu rubripe s), which has a genetic sex determination system of male homogametic XY-XX. Tiger puffer larvae were exposed to 1, 10 and 100 μg/L E2 from 15 to 100 days post-hatch(dph) and then maintained in clean seawater until 400 dph. Changes in sex ratio, gonadal structure and gonadosomatic index(GSI) were monitored at 100, 160, 270 and 400 dph. Sex-associated single nucleotide polymorphism(SNP) markers were used to analyze the genetic sex of samples, except those at 100 dph. Exposure had a positive effect on the conversion of genetically male gonads into phenotypically female gonads at 100 dph. However, gonads from 60% of genetic XY males in the 1-μg/L E2 group and 100% in the 10-μg/L E2 group developed intersexual gonads at 160 dph; gonads of all genetic XY males in the two treatment groups reverted to testis by 270 dph. While 38%, 57% and 44% of gonads of XY fish in the 100-μg/L E2 group reverted to intersexual gonads at 160, 270 and 400 dph, respectively, none reverted to testis after E2 treatment. In addition, E2 exposure inhibited gonadal growth of both genetic sexes, as indicated by the clear dose-dependent decrease in GSI at 270 and 400 dph. The results showed that exposure to E2 during the early life stages of tiger puffer disrupted gonadal development, but that fish recovered after migration to clean seawater. The study suggests the potential use of tiger puffer as a valuable indicator species to evaluate the effects of environmental estrogens on marine fish, thereby protecting valuable fishery resources.展开更多
The work was carried out by microinjections of an aromatase inhibitor letrozole, an estrogen receptor modulator tamoxifen in incubated eggs Gallus g. domesticus, the first day of incubation. It also used 5-azacytidine...The work was carried out by microinjections of an aromatase inhibitor letrozole, an estrogen receptor modulator tamoxifen in incubated eggs Gallus g. domesticus, the first day of incubation. It also used 5-azacytidine (5-AC) at the same time. Injection of progesterone was carried out before the onset of meiosis prophase 1 on 16 h of incubation. Morphologically and histologically and by PCR, sex of the 17-day embryos was controlled. According to information received microinjection of letrozole caused almost a 100% inversion of genetic males to females, which is manifested in the morphology of the gonads. In other experiments, sex reversal is not revealed. The results are obtained in this study, and the data suggest that the presence of gonadogenesis in female chickens makes earlier emergence of aromatase in the beginning of incubation, than that according to the classical scheme of sex determination in birds. Presumably this kind of synthesis is triggered by some W-chromosomal factors. It failed to detect the phenomenon of gender inversion—the transformation of males into females after exposure to demethylating agent 5-AC that casts doubt on the participation of male hypermethylated (MHM)-RNA-segment in regulating the activity of sex determining genes.展开更多
为研究Amh基因在TSD(Temperature-dependent sex determination,温度依赖型性别决定)中的功能,文章以红耳龟Trachemys scripta为TSD动物模型,分析了Amh在胚胎性腺中的精细表达特征和细胞定位;通过基因功能缺失和获得研究手段,验证了Amh...为研究Amh基因在TSD(Temperature-dependent sex determination,温度依赖型性别决定)中的功能,文章以红耳龟Trachemys scripta为TSD动物模型,分析了Amh在胚胎性腺中的精细表达特征和细胞定位;通过基因功能缺失和获得研究手段,验证了Amh在TSD中的具体功能。表达分析结果显示,Amh基因在性腺分化启动前的第15期便已呈现产雄温度(Male-producing temperature,MPT)性腺高表达;AMH蛋白主要定位在MPT性腺sertoli前体细胞上,而在各个发育时期的FPT(Female-producing temperature,产雌温度)性腺中仅检测到极其微弱的Amh mRNA和蛋白表达信号。RNA干扰实验显示,敲低Amh后的MPT性腺出现了雄性向雌性完全性逆转,雄性分化因子Sox9明显下调,雌性分化因子Foxl2和Cyp19a1显著上调;相反地,异位表达Amh后的FPT性腺则转向睾丸方向分化,Foxl2和Cyp19a1表达被抑制,Sox9表达上升。上述研究表明,Amh是启动红耳龟早期睾丸分化必需且充分的关键因子,处于TSD雄性分化分子通路上游。展开更多
目的探讨腹腔镜辅助下体外性腺活检术在腹腔型性腺性发育异常中的临床应用,并进行技术评价。方法回顾性分析湖南省儿童医院泌尿外科2020年1月至2023年3月采用腹腔镜辅助下体外性腺活检的腹腔型性腺性发育异常(disorders of sex developm...目的探讨腹腔镜辅助下体外性腺活检术在腹腔型性腺性发育异常中的临床应用,并进行技术评价。方法回顾性分析湖南省儿童医院泌尿外科2020年1月至2023年3月采用腹腔镜辅助下体外性腺活检的腹腔型性腺性发育异常(disorders of sex development,DSD)患儿,收集患儿社会性别、性腺位置、年龄、身高、染色体核型、性腺病检结果、出血量、性别决定及治疗方案等资料并分析。结果本研究共纳入17例腹腔型性腺DSD(共34侧),年龄25(13.5,106)个月;社会性别男性10例,社会性别女性7例;染色体46,XY 6例,46,XX 1例,45,X/46,XY 9例,45,X/47,XYY 1例。性腺双侧位于腹腔内7例,右侧位于腹腔内、左侧位于阴囊4例,右侧位于腹腔内、左侧位于腹股沟3例,左侧位于腹腔内、右侧位于阴囊2例,左侧位于腹腔内、右侧位于腹股沟1例。性腺位于腹腔24侧,左侧阴囊4侧,左侧腹股沟3侧,右侧阴囊2侧,右侧腹股沟1侧。24侧腹腔型性腺采用腹腔镜辅助下体外性腺活检,10侧腹腔外性腺采取腹股沟/阴囊切口性腺活检,成功获得性腺组织完成病理检查,术中出血量2(1,2.5)mL,术后无一例出血、切口感染、切口疝、腹胀等并发症。病理结果提示:双侧条纹性腺4例,双侧睾丸2例,左侧睾丸、右侧条纹性腺7例,左侧条纹性腺、右侧睾丸3例,左侧睾丸、右侧卵巢1例。行性别决定12例(包括阴蒂整形4例、单纯双侧性腺切除2例、尿道成形6例),未行性别决定5例。结论腹腔镜辅助下体外性腺活检术应用于腹腔型性腺DSD方便、安全、有效且准确,为腹腔型性腺DSD患儿性别决定方案的选择提供了重要的临床参考依据。展开更多
文摘Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></span><span style="font-family:Verdana;">) is a primitive freshwater fish and a source of black caviar.</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">The genes involved in sexual determination and differentiation are still unknown and there are no molecular markers for sex identification in this species. Studying the variation of the sex-based differences in genomic sequences and in gene expression in the sturgeon may lead to markers of sex in early stages of development and advances in aquaculture, as well as provide novel insights about the evolution of reproduction, sex determination, and sexual differentiation mechanisms in vertebrates. Previous studies by our and other groups have identified differentially expressed genes in the gonads of adult female and male sturgeon. The current study aimed to test whether these ge</span><span style="font-family:Verdana;">nes were also differentially expressed in non-gonadal tissue, namely fins. We measured by qRT-PCR the mRNA levels of 29 known and novel sex-related genes in the gonads and fins of males (4 years old) and females (7 years old;sexual maturation is earlier in males than in females). Six genes (ATP6, IGFRM, LIA1A, S1A, NPL1A, GAPDH and SOX9) showed higher expression in female fin</span><span style="font-family:Verdana;">s. However, only ATP6 mRNA levels differed in fins of males and females of the same age (4 years old). These findings underscore the impracticality of sex identification based on gene expression in non-gonadal</span><span style="font-family:Verdana;"> tissue and the need for genetic sex markers in the Russian sturgeon.
文摘45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。
基金Supported by the China Agriculture Research System(No.CARS-50-G20)the National Natural Science Foundation of China(No.31402284)the National High Technology Research and Development Program of China(863 Program)(No.2012AA10A413-2)
文摘The aim of the present study was to investigate the long-term effects of 17β-estradiol(E2) exposure on gonadal development in the tiger puffer( Takifugu rubripe s), which has a genetic sex determination system of male homogametic XY-XX. Tiger puffer larvae were exposed to 1, 10 and 100 μg/L E2 from 15 to 100 days post-hatch(dph) and then maintained in clean seawater until 400 dph. Changes in sex ratio, gonadal structure and gonadosomatic index(GSI) were monitored at 100, 160, 270 and 400 dph. Sex-associated single nucleotide polymorphism(SNP) markers were used to analyze the genetic sex of samples, except those at 100 dph. Exposure had a positive effect on the conversion of genetically male gonads into phenotypically female gonads at 100 dph. However, gonads from 60% of genetic XY males in the 1-μg/L E2 group and 100% in the 10-μg/L E2 group developed intersexual gonads at 160 dph; gonads of all genetic XY males in the two treatment groups reverted to testis by 270 dph. While 38%, 57% and 44% of gonads of XY fish in the 100-μg/L E2 group reverted to intersexual gonads at 160, 270 and 400 dph, respectively, none reverted to testis after E2 treatment. In addition, E2 exposure inhibited gonadal growth of both genetic sexes, as indicated by the clear dose-dependent decrease in GSI at 270 and 400 dph. The results showed that exposure to E2 during the early life stages of tiger puffer disrupted gonadal development, but that fish recovered after migration to clean seawater. The study suggests the potential use of tiger puffer as a valuable indicator species to evaluate the effects of environmental estrogens on marine fish, thereby protecting valuable fishery resources.
文摘The work was carried out by microinjections of an aromatase inhibitor letrozole, an estrogen receptor modulator tamoxifen in incubated eggs Gallus g. domesticus, the first day of incubation. It also used 5-azacytidine (5-AC) at the same time. Injection of progesterone was carried out before the onset of meiosis prophase 1 on 16 h of incubation. Morphologically and histologically and by PCR, sex of the 17-day embryos was controlled. According to information received microinjection of letrozole caused almost a 100% inversion of genetic males to females, which is manifested in the morphology of the gonads. In other experiments, sex reversal is not revealed. The results are obtained in this study, and the data suggest that the presence of gonadogenesis in female chickens makes earlier emergence of aromatase in the beginning of incubation, than that according to the classical scheme of sex determination in birds. Presumably this kind of synthesis is triggered by some W-chromosomal factors. It failed to detect the phenomenon of gender inversion—the transformation of males into females after exposure to demethylating agent 5-AC that casts doubt on the participation of male hypermethylated (MHM)-RNA-segment in regulating the activity of sex determining genes.
文摘目的探讨腹腔镜辅助下体外性腺活检术在腹腔型性腺性发育异常中的临床应用,并进行技术评价。方法回顾性分析湖南省儿童医院泌尿外科2020年1月至2023年3月采用腹腔镜辅助下体外性腺活检的腹腔型性腺性发育异常(disorders of sex development,DSD)患儿,收集患儿社会性别、性腺位置、年龄、身高、染色体核型、性腺病检结果、出血量、性别决定及治疗方案等资料并分析。结果本研究共纳入17例腹腔型性腺DSD(共34侧),年龄25(13.5,106)个月;社会性别男性10例,社会性别女性7例;染色体46,XY 6例,46,XX 1例,45,X/46,XY 9例,45,X/47,XYY 1例。性腺双侧位于腹腔内7例,右侧位于腹腔内、左侧位于阴囊4例,右侧位于腹腔内、左侧位于腹股沟3例,左侧位于腹腔内、右侧位于阴囊2例,左侧位于腹腔内、右侧位于腹股沟1例。性腺位于腹腔24侧,左侧阴囊4侧,左侧腹股沟3侧,右侧阴囊2侧,右侧腹股沟1侧。24侧腹腔型性腺采用腹腔镜辅助下体外性腺活检,10侧腹腔外性腺采取腹股沟/阴囊切口性腺活检,成功获得性腺组织完成病理检查,术中出血量2(1,2.5)mL,术后无一例出血、切口感染、切口疝、腹胀等并发症。病理结果提示:双侧条纹性腺4例,双侧睾丸2例,左侧睾丸、右侧条纹性腺7例,左侧条纹性腺、右侧睾丸3例,左侧睾丸、右侧卵巢1例。行性别决定12例(包括阴蒂整形4例、单纯双侧性腺切除2例、尿道成形6例),未行性别决定5例。结论腹腔镜辅助下体外性腺活检术应用于腹腔型性腺DSD方便、安全、有效且准确,为腹腔型性腺DSD患儿性别决定方案的选择提供了重要的临床参考依据。
