性别发育基因P450c17、DMY和Dmrt1的克隆、表达及选择性剪接研究
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摘要
性别发育是基本的生命活动过程，它是一个涉及多个基因时空表达的网络调控体系。性别决定与分化也是研究器官形成与分化的良好模式。尽管至今已提出一些理论来解释性别决定与分化过程，包括基因型性别决定、环境性别决定以及社会群体性别决定等，然而对其分子机制和进化规律还缺乏深入的认识。
黄鳝是我国淡水鱼中的一种具有天然性反转生理特性的鱼类，即由雌性、间性到雄性发育的过程；青鳉是一种小型卵生的淡水鱼，其有类似于人类的XY染色体。因而它们成为研究性别发育的良好模式生物，对其性别发育机制的阐明有助于人类认识自身，为性别相关疾病防治提供理论依据。本文在研究黄鳝性别分化基因和青鳉性别决定基因时，首次发现了黄鳝性别分化基因P450c17(CYP17)存在选择性剪接现象，同时也发现了青鳉性别主基因DMY以及Dmrt1存在类似的选择性剪接现象。
1．黄鳝P450c17基因的选择性剪接——克隆、结构与表达分析
利用SMART技术合成了不同性别黄鳝性腺cDNA，并采用RACE方法扩增得到了黄鳝四个CYP17全长cDNA(Genbank登录号为：AY224681-AY224684)分别为CYP17-a1(3312bp)、CYP17-a2(1934bp)、CYP17-b(1676bp)、CYP17-c(1121bp)。序列分析表明，它们3′端的序列各不相同，是通过选择性剪接或选择性加尾产生，编码了三种不同的
蛋白质(517个氨基酸，512个氨基酸和159个氨基酸)。进一步分析表
明，P45O结构域是高度保守的，尤其是靠近5’端。
根据上述全长基因设计编码区的特异引物进行组织表达谱分析，
Rl’- PCR结果表明CYPI7基因的各种转录本在卵巢、间性性腺和翠丸中
都有表达，在脑中仅有CYPI 7-c有少量的表达外，其它组织如心、肝、
肾中都没有任何转录本的表达，说明该基因主要性腺中表达，与性别发
育有极为密切的关系。
Northem杂交验证了各种转录本在三种性腺中的表达模式。从黄鳝
翠丸、卵巢和间性性腺提取总RNA(各1 0 pg)，然后在1 .0%的琼脂糖凝
胶电泳分离并转膜，以黄鳝CYPI 7-a2的3，.RACE产物(l .6kb，包含保
守的P45o结构域)标记探针([a一32P]deTP)，在u耳队hyb(Ambion)
公司的杂交液中42℃进行Northern杂交16小时以上，结果表明CYPI7
基因主要是CYPI 7-al的表达(约3.3kb)，而且翠丸大于卵巢，二者都远
远大于间性性腺。其次是相对较弱的CYP了7-b的表达(约1.7kb)，而在
CYP了7-aj和CYP了7-b之间有更弱的CYPI 7-a2表达，而CYP了7-c的表达
在该条件下没有信号。
为进一步深入研究CYP17基因在性别分化中的作用，我们采用了性
腺切片进行组织原位杂交(In siru hybridization)。digoxigenin一UTP标记
正义RNA探针和反义RNA探针包含黄鳝 CYP了7-a2(l .6kb)的P450结
构域，即分别用SP6或T7 RNA聚合酶转录(SP6启动子转录得到的探
针为正义探针，T7启动子转录得到反义探针)。据Boehringer操作指南
首先进行性腺组织冰冻切片，立即42℃进行杂交，杂交信号用NBT/BCIP
系统进行显色。结果表明CYP了7基因在生殖婿的上皮细胞特异表达，而
在发育的生殖细胞中没有表达。另外杂交信号强度翠丸大于卵巢，两者
都远远大于间性性腺，此结果与 Northem杂交结果相印证。
在邻接法(NJ法)进行脊椎动物CYP17蛋白的聚类分析时，采用
dustalx(1 .81)软件进行序列的联配，并用bootstrap进行赋值，得到脊
椎动物CYP17蛋白的系统发生树。结果表明哺乳动物属同一分支，而黄
鳝CYP17蛋白特异地与鱼类属另一分支。
Southem杂交是进行基因组DNA特定序列定位。本实验从雌雄黄鳝
血液中提取基因组DNA，10 pg基因组DNA用EcoRI酶消化，0.8%的
琼脂糖凝胶电泳(Iv/cm)分离并转膜，以黄鳝CYPI 7-a2(l .6kb，包含
保守的P45o结构域)标记探针([a一32P]deTP)，在u叮队hyb(Ambion)
公司的杂交液中42℃进行SOuthem杂交，结果在约6.skb处得到与黄鳝
CYP17基因同源的杂交信号。
空间结构为功能预测奠定基础，为此我们对黄鳝CYP17蛋白进行了
空间结构分析。首先利用DNAstar软件对黄鳝CYP17蛋白进行二级结构
预测表明该蛋白主要由Q螺旋和p折叠组成，尤其是4一25和35一57的
两个跨膜Q螺旋，可能与其进行膜内外电子传递功能有关。根据现有的
CYP17蛋白晶体结构，唯有P45OBM3与真核生物有相近的空间结构，
采用比较建模法进行黄鳝CYP17一al蛋白的空间结构预测。构建了黄鳝
CYP17空间结构模型，表明其功能活性区(血红素结合位点和底物结合
域)高度保守，为该基因深入地功能分析奠定基础。
以上这些结果说明，黄鳝CYP了夕基因表达存在时空差异，与黄鳝天
然性反转过程相一致，暗示它在性别分化中的潜在重要作用。
2.青锵刀材Y和Dmrtl基因的选择性剪接分析
利用SMART技术分别合成了青鳄雌性和雄性性腺cDNA，在D材r
和刀脚rtl基因的保守区设计引物，进行3.RACE分析。在mRNA水平上
发现了青鳄D初了和Dmrtl基因3’端存在类似于黄鳝CYPI7基因的选择
性剪接现象。
首次发现了青鳄D材y基因两个选择性剪接(D拟下“与D例子b)，而
D材Ka存在多态性，产生两种转录本(。材Kal和刀泪子a2)。DMY三个转
录本的产度分别是1342bp、1334bp和92lbp，相应编?
Sexual development is a fundamental process of life, which is a regulatory cascade of spatial-temporal expression of multiple genes. It is also a promising and interesting model for study of organogenisis. Although several mechanisms have been employed for explanation of sex determination/differentiation, including genotypic, temperature-dependent, and behavior-dependent sex determination, molecular and evolutionary mechanisms are still not completely understood.
The rice field eel, Monopterus albus, one of fresh-water fishes, has a characteristic of natural sexual reversal from female via intersex into male during its life. Medaka, Oryzias latipes, is a small, egg-laying freshwater fish, which has XY chromosomes. Therefore these two species have been used as ideal models for study of sex determination and differentiation, which will be informative to elucidate mechanisms of human sex determination/differentiation, and to provide theoretic bases for prevention and treatment of sex-related diseases. This paper presents first discovery of alternative splicing events occurred in gonads: P450cl7(CYP17) gene in rice field eel, and DMY and Dmrtl in medaka.
1 Alternative splicing of P450c17 in rice field eel-cloning, gene structure and expression patterns
SMART technique was used to synthesize the cDNA from different gonads in rice field eel, and four different isoforms of the CYP17 genes (GenBank numbers: AY224681 - AY224684), CYP17-al (3312bp) CYP17-a2 (1934bp) CYP17-b (1676bp ) CYP17-c (1121 bp ), were obtained by using RACE strategy, which were generated in gonads by alternative splicing and polyadenylation. Alternative splicing events of all these isoforms occurred in 3' regions, which encoded three different sizes (517 aa, 512 aa and 159 aa) of proteins. Furthermore, P450 domain is highly conserved, especially near to 5' regions.
Basis on sequences of four different CYP17 isforms, specific primers were designed to carry out expression patterns. RT-PCR results indicate mainly expression in ovary, testis and ovotestis of these isoforms, and little expression of CYP17-c also in brain, but not in other tissues, such as heart, liver and kidney, which can identify in gonads, and are closely related to sexual development.
Northern blot analysis was used to investigate differences in expression among the three forms of gonads. Total RNA(10^g, respectively) extracted from ovary, testis and ovotestis, which were separated in 1.0% sugar gel, probes labeled by [ a -32p] dCTP who is product of 3'-RACE in CYP17-a2 of rice field eel including conserved P450 domain, were prepared in the course of Northern blotting using ULTRAhyb solution (Ambion) under 42 C and more than 16hrs. Dominant expression of the 3.3 kb form (CYP17-a1) was observed in testis, less in ovary, and at low levels in ovotestis, arid another band of 1.7 kb (CYP17-b) was also observed. A very faint band was detected between the bands of 1.7 and 3.3 kb (CYP17-a2), while CYP17-C was not detected by Northern blot analysis.
In order to gain insight into the role of the CYP17 gene in sex differentiation in this species, we analyzed the gene expression patterns in the three forms of gonads by in situ hybridization to gonad sections. Antisense and sense RNA probes were prepared separately from a region including
P450 domain of CYP17-a2 (1.6 kb) of the rice field eel and labeled with digoxigenin-UTP, using SP6 or T7 RNA polymerase separately (SP6 for production of sense probe, T7 for antisense probe). Gonads tissues were cryosectioned and the sections were immediately hybridized (42C) and hybridization signals were detected by NBT/BCIP system according to the manufacturer's instructions (Boehringer). It shows its specific expression in germinal lamellae, the gonadal epithelium of the gonads, but not in developing germs. In addition, strong signal of testis is detected, then ovary, and very low in ovotestis, which are consistent with the results of Northern blotting.
Neighbour joint (NJ) method is employed in the course of Phylogenetic analysis by using clustalx (
黄鳝是我国淡水鱼中的一种具有天然性反转生理特性的鱼类，即由雌性、间性到雄性发育的过程；青鳉是一种小型卵生的淡水鱼，其有类似于人类的XY染色体。因而它们成为研究性别发育的良好模式生物，对其性别发育机制的阐明有助于人类认识自身，为性别相关疾病防治提供理论依据。本文在研究黄鳝性别分化基因和青鳉性别决定基因时，首次发现了黄鳝性别分化基因P450c17(CYP17)存在选择性剪接现象，同时也发现了青鳉性别主基因DMY以及Dmrt1存在类似的选择性剪接现象。
1．黄鳝P450c17基因的选择性剪接——克隆、结构与表达分析
利用SMART技术合成了不同性别黄鳝性腺cDNA，并采用RACE方法扩增得到了黄鳝四个CYP17全长cDNA(Genbank登录号为：AY224681-AY224684)分别为CYP17-a1(3312bp)、CYP17-a2(1934bp)、CYP17-b(1676bp)、CYP17-c(1121bp)。序列分析表明，它们3′端的序列各不相同，是通过选择性剪接或选择性加尾产生，编码了三种不同的
蛋白质(517个氨基酸，512个氨基酸和159个氨基酸)。进一步分析表
明，P45O结构域是高度保守的，尤其是靠近5’端。
根据上述全长基因设计编码区的特异引物进行组织表达谱分析，
Rl’- PCR结果表明CYPI7基因的各种转录本在卵巢、间性性腺和翠丸中
都有表达，在脑中仅有CYPI 7-c有少量的表达外，其它组织如心、肝、
肾中都没有任何转录本的表达，说明该基因主要性腺中表达，与性别发
育有极为密切的关系。
Northem杂交验证了各种转录本在三种性腺中的表达模式。从黄鳝
翠丸、卵巢和间性性腺提取总RNA(各1 0 pg)，然后在1 .0%的琼脂糖凝
胶电泳分离并转膜，以黄鳝CYPI 7-a2的3，.RACE产物(l .6kb，包含保
守的P45o结构域)标记探针([a一32P]deTP)，在u耳队hyb(Ambion)
公司的杂交液中42℃进行Northern杂交16小时以上，结果表明CYPI7
基因主要是CYPI 7-al的表达(约3.3kb)，而且翠丸大于卵巢，二者都远
远大于间性性腺。其次是相对较弱的CYP了7-b的表达(约1.7kb)，而在
CYP了7-aj和CYP了7-b之间有更弱的CYPI 7-a2表达，而CYP了7-c的表达
在该条件下没有信号。
为进一步深入研究CYP17基因在性别分化中的作用，我们采用了性
腺切片进行组织原位杂交(In siru hybridization)。digoxigenin一UTP标记
正义RNA探针和反义RNA探针包含黄鳝 CYP了7-a2(l .6kb)的P450结
构域，即分别用SP6或T7 RNA聚合酶转录(SP6启动子转录得到的探
针为正义探针，T7启动子转录得到反义探针)。据Boehringer操作指南
首先进行性腺组织冰冻切片，立即42℃进行杂交，杂交信号用NBT/BCIP
系统进行显色。结果表明CYP了7基因在生殖婿的上皮细胞特异表达，而
在发育的生殖细胞中没有表达。另外杂交信号强度翠丸大于卵巢，两者
都远远大于间性性腺，此结果与 Northem杂交结果相印证。
在邻接法(NJ法)进行脊椎动物CYP17蛋白的聚类分析时，采用
dustalx(1 .81)软件进行序列的联配，并用bootstrap进行赋值，得到脊
椎动物CYP17蛋白的系统发生树。结果表明哺乳动物属同一分支，而黄
鳝CYP17蛋白特异地与鱼类属另一分支。
Southem杂交是进行基因组DNA特定序列定位。本实验从雌雄黄鳝
血液中提取基因组DNA，10 pg基因组DNA用EcoRI酶消化，0.8%的
琼脂糖凝胶电泳(Iv/cm)分离并转膜，以黄鳝CYPI 7-a2(l .6kb，包含
保守的P45o结构域)标记探针([a一32P]deTP)，在u叮队hyb(Ambion)
公司的杂交液中42℃进行SOuthem杂交，结果在约6.skb处得到与黄鳝
CYP17基因同源的杂交信号。
空间结构为功能预测奠定基础，为此我们对黄鳝CYP17蛋白进行了
空间结构分析。首先利用DNAstar软件对黄鳝CYP17蛋白进行二级结构
预测表明该蛋白主要由Q螺旋和p折叠组成，尤其是4一25和35一57的
两个跨膜Q螺旋，可能与其进行膜内外电子传递功能有关。根据现有的
CYP17蛋白晶体结构，唯有P45OBM3与真核生物有相近的空间结构，
采用比较建模法进行黄鳝CYP17一al蛋白的空间结构预测。构建了黄鳝
CYP17空间结构模型，表明其功能活性区(血红素结合位点和底物结合
域)高度保守，为该基因深入地功能分析奠定基础。
以上这些结果说明，黄鳝CYP了夕基因表达存在时空差异，与黄鳝天
然性反转过程相一致，暗示它在性别分化中的潜在重要作用。
2.青锵刀材Y和Dmrtl基因的选择性剪接分析
利用SMART技术分别合成了青鳄雌性和雄性性腺cDNA，在D材r
和刀脚rtl基因的保守区设计引物，进行3.RACE分析。在mRNA水平上
发现了青鳄D初了和Dmrtl基因3’端存在类似于黄鳝CYPI7基因的选择
性剪接现象。
首次发现了青鳄D材y基因两个选择性剪接(D拟下“与D例子b)，而
D材Ka存在多态性，产生两种转录本(。材Kal和刀泪子a2)。DMY三个转
录本的产度分别是1342bp、1334bp和92lbp，相应编?
Sexual development is a fundamental process of life, which is a regulatory cascade of spatial-temporal expression of multiple genes. It is also a promising and interesting model for study of organogenisis. Although several mechanisms have been employed for explanation of sex determination/differentiation, including genotypic, temperature-dependent, and behavior-dependent sex determination, molecular and evolutionary mechanisms are still not completely understood.
The rice field eel, Monopterus albus, one of fresh-water fishes, has a characteristic of natural sexual reversal from female via intersex into male during its life. Medaka, Oryzias latipes, is a small, egg-laying freshwater fish, which has XY chromosomes. Therefore these two species have been used as ideal models for study of sex determination and differentiation, which will be informative to elucidate mechanisms of human sex determination/differentiation, and to provide theoretic bases for prevention and treatment of sex-related diseases. This paper presents first discovery of alternative splicing events occurred in gonads: P450cl7(CYP17) gene in rice field eel, and DMY and Dmrtl in medaka.
1 Alternative splicing of P450c17 in rice field eel-cloning, gene structure and expression patterns
SMART technique was used to synthesize the cDNA from different gonads in rice field eel, and four different isoforms of the CYP17 genes (GenBank numbers: AY224681 - AY224684), CYP17-al (3312bp) CYP17-a2 (1934bp) CYP17-b (1676bp ) CYP17-c (1121 bp ), were obtained by using RACE strategy, which were generated in gonads by alternative splicing and polyadenylation. Alternative splicing events of all these isoforms occurred in 3' regions, which encoded three different sizes (517 aa, 512 aa and 159 aa) of proteins. Furthermore, P450 domain is highly conserved, especially near to 5' regions.
Basis on sequences of four different CYP17 isforms, specific primers were designed to carry out expression patterns. RT-PCR results indicate mainly expression in ovary, testis and ovotestis of these isoforms, and little expression of CYP17-c also in brain, but not in other tissues, such as heart, liver and kidney, which can identify in gonads, and are closely related to sexual development.
Northern blot analysis was used to investigate differences in expression among the three forms of gonads. Total RNA(10^g, respectively) extracted from ovary, testis and ovotestis, which were separated in 1.0% sugar gel, probes labeled by [ a -32p] dCTP who is product of 3'-RACE in CYP17-a2 of rice field eel including conserved P450 domain, were prepared in the course of Northern blotting using ULTRAhyb solution (Ambion) under 42 C and more than 16hrs. Dominant expression of the 3.3 kb form (CYP17-a1) was observed in testis, less in ovary, and at low levels in ovotestis, arid another band of 1.7 kb (CYP17-b) was also observed. A very faint band was detected between the bands of 1.7 and 3.3 kb (CYP17-a2), while CYP17-C was not detected by Northern blot analysis.
In order to gain insight into the role of the CYP17 gene in sex differentiation in this species, we analyzed the gene expression patterns in the three forms of gonads by in situ hybridization to gonad sections. Antisense and sense RNA probes were prepared separately from a region including
P450 domain of CYP17-a2 (1.6 kb) of the rice field eel and labeled with digoxigenin-UTP, using SP6 or T7 RNA polymerase separately (SP6 for production of sense probe, T7 for antisense probe). Gonads tissues were cryosectioned and the sections were immediately hybridized (42C) and hybridization signals were detected by NBT/BCIP system according to the manufacturer's instructions (Boehringer). It shows its specific expression in germinal lamellae, the gonadal epithelium of the gonads, but not in developing germs. In addition, strong signal of testis is detected, then ovary, and very low in ovotestis, which are consistent with the results of Northern blotting.
Neighbour joint (NJ) method is employed in the course of Phylogenetic analysis by using clustalx (
引文
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