Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing...Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing genes have also been shown to act as regulators and biomarkers in the progression of many different cancers, including gynecological cancers such as ovarian, cervical,and endometrial cancer.In this review, we summarize the contrasting regulatory roles of Sex-determining region Y box-containing genes in different gynecological cancers, as promotors with high expression levels or as suppressors with low expression levels.Expression levels of Sex-determining region Y box-containing genes were also identified as biomarkers of clinical features, including International Federation of Gynecology and Obstetrics stage, histopathologic grade together with disease-free survival, and treatment efficacy in patients with gynecological cancers.An understanding of the mechanisms whereby Sex-determining region Y box-containing genes regulate the progression of gynecological cancers will aid in the development of novel diagnostic and therapeutic strategies, while analysis of Sex-determining region Y box-containing expression levels will help to predict the prognosis of patients with gynecological cancers.展开更多
In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in s...In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.展开更多
Disorders of sex development often arise from anomalies in the molecular or cellular networks that guide the differentiation of the embryonic gonad into either a testis or an ovary, two functionally distinct organs. T...Disorders of sex development often arise from anomalies in the molecular or cellular networks that guide the differentiation of the embryonic gonad into either a testis or an ovary, two functionally distinct organs. The activation of the Y-linked gene Sry （sex- determining region Y） and its downstream target Sox9 （Sry box-containing gene 9） triggers testis differentiation by stimulating the differentiation of Sertoli cells, which then direct testis morphogenesis. Once engaged, a genetic pathway promotes the testis development while actively suppressing genes involved in ovarian development. This review focuses on the events of testis determination and the struggle to maintain male fate in the face of antagonistic pressure from the underlying female programme.展开更多
Objective： To gain insight into the mechanism by which sex-determining region of Y chromosome （SRY）-related high-mobility-group box 2 （SOX2） involved in carcinogenesis and cancer stem cells （CSCs）. Data Sources...Objective： To gain insight into the mechanism by which sex-determining region of Y chromosome （SRY）-related high-mobility-group box 2 （SOX2） involved in carcinogenesis and cancer stem cells （CSCs）. Data Sources： The data used in this review were mainly published in English from 2000 to present obtained from PubMed. The search terms were ＂SOX2,＂ ＂cancer,＂ ＂tumor＂ or ＂CSCs.＂ Study Selection： Articles studying the mitochondria-related pathologic mechanism and treatment of glaucoma were selected and reviewed. Results： SOX2, a transcription factor that is the key in maintaining pluripotent properties of stem cells, is a member of SRV-related high-mobility group domain proteins. SOX2 participates in many biological processes, such as modulation of cell proliferation, regulation of cell death signaling, cell apoptosis, and most importantly, tumor formation and development. Although SOX2 has been implicated in the biology of various tumors and CSCs, the findings are highly controversial, and information regarding the underlying mechanism remains limited. Moreover, the mechanism by which SOX2 involved in carcinogenesis and tumor progression is rather unclear yet. Conclusions： Here, we review the important biological functions of SOX2 in different tumors and CSCs, and the function of SOX2 signaling in the pathobiology ofneoplasia, such as Wnt/β-catenin signaling pathway, Hippo signaling pathway, Survivin signaling pathway, P13K/Akt signaling pathway, and so on. Targeting towards SOX2 may be an effective therapeutic strategy for cancer therapy.展开更多
Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Method...Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Methods The mierodeletion of AZF was detected by multiplex polymerase chain reaction （PCR） using Y-chromosome specific sequence tagged sites （STSs）, and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group （P〈 0. 05）. There were 67 cases with 5 STSs mierodeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor （TDF） gene.展开更多
基金supported by grants from the National Natural Science Foundation of China (Grant No.81572568 and 81272863)
文摘Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing genes have also been shown to act as regulators and biomarkers in the progression of many different cancers, including gynecological cancers such as ovarian, cervical,and endometrial cancer.In this review, we summarize the contrasting regulatory roles of Sex-determining region Y box-containing genes in different gynecological cancers, as promotors with high expression levels or as suppressors with low expression levels.Expression levels of Sex-determining region Y box-containing genes were also identified as biomarkers of clinical features, including International Federation of Gynecology and Obstetrics stage, histopathologic grade together with disease-free survival, and treatment efficacy in patients with gynecological cancers.An understanding of the mechanisms whereby Sex-determining region Y box-containing genes regulate the progression of gynecological cancers will aid in the development of novel diagnostic and therapeutic strategies, while analysis of Sex-determining region Y box-containing expression levels will help to predict the prognosis of patients with gynecological cancers.
文摘In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
文摘Disorders of sex development often arise from anomalies in the molecular or cellular networks that guide the differentiation of the embryonic gonad into either a testis or an ovary, two functionally distinct organs. The activation of the Y-linked gene Sry （sex- determining region Y） and its downstream target Sox9 （Sry box-containing gene 9） triggers testis differentiation by stimulating the differentiation of Sertoli cells, which then direct testis morphogenesis. Once engaged, a genetic pathway promotes the testis development while actively suppressing genes involved in ovarian development. This review focuses on the events of testis determination and the struggle to maintain male fate in the face of antagonistic pressure from the underlying female programme.
基金This study was supported by grants from the National Natural Science Foundation of China （No. 81172234） and the Fundamental Research Funds for the Central Universities of China.
文摘Objective： To gain insight into the mechanism by which sex-determining region of Y chromosome （SRY）-related high-mobility-group box 2 （SOX2） involved in carcinogenesis and cancer stem cells （CSCs）. Data Sources： The data used in this review were mainly published in English from 2000 to present obtained from PubMed. The search terms were ＂SOX2,＂ ＂cancer,＂ ＂tumor＂ or ＂CSCs.＂ Study Selection： Articles studying the mitochondria-related pathologic mechanism and treatment of glaucoma were selected and reviewed. Results： SOX2, a transcription factor that is the key in maintaining pluripotent properties of stem cells, is a member of SRV-related high-mobility group domain proteins. SOX2 participates in many biological processes, such as modulation of cell proliferation, regulation of cell death signaling, cell apoptosis, and most importantly, tumor formation and development. Although SOX2 has been implicated in the biology of various tumors and CSCs, the findings are highly controversial, and information regarding the underlying mechanism remains limited. Moreover, the mechanism by which SOX2 involved in carcinogenesis and tumor progression is rather unclear yet. Conclusions： Here, we review the important biological functions of SOX2 in different tumors and CSCs, and the function of SOX2 signaling in the pathobiology ofneoplasia, such as Wnt/β-catenin signaling pathway, Hippo signaling pathway, Survivin signaling pathway, P13K/Akt signaling pathway, and so on. Targeting towards SOX2 may be an effective therapeutic strategy for cancer therapy.
文摘Objective To determine the incidence of azoospermia faetor （AZF） microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y （SRY） in sex differentiation. Methods The mierodeletion of AZF was detected by multiplex polymerase chain reaction （PCR） using Y-chromosome specific sequence tagged sites （STSs）, and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group （P〈 0. 05）. There were 67 cases with 5 STSs mierodeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor （TDF） gene.
