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Reinnervation
Parenchyma
Testis determining factor
Hepatoduodenal ligament
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 2streak 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.
Testis determining factor
Sex reversal
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Despite more than ten years since the discovery of the Sex-determining Region gene on the Y chromosome(SRY),little is known about how SRY control the bipotential embryonic gonad to develop into a testis.Studies of the past more than ten years give more information of SRY.This review describes our current knowledge of SRY and SRY protein and gonadal expression of SRY.
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Testis determining factor
Gonadal dysgenesis
Sex reversal
Sexual Differentiation
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In mammals, gonadal sex is normally determined by the presence or absence of the Y chromosome gene SRY. After expression of SRY in the sexually indifferent gonad, a number of genes encoding transcription factors and growth factors implicated in testis differentiation start to show male-specific expression. However, in XX males, these genes must be up-regulated in the absence of SRY, but the aetiology of SRY-negative XX maleness remains unclear.We examined the expression of representative gonad marker genes in SRY-negative XX male testes.RT-PCR and immunohistochemical studies revealed that SOX9, DAX-1, Ad4BP/SF-1, WT-1, GATA-4 and MIS were expressed in testicular tissues of SRY-negative XX males. Expression levels of SOX9 in testes of these patients averaged 1.9-fold higher than in normal XY testes, while expression levels of Ad4BP/SF-1, DAX-1 and MIS were lower in the SRY-negative XX testes than in XY testes. All XX patients were found to carry two copies of the SOX9 gene per diploid genome as do normal XX females and XY males. The XX male patients also carried two copies of the DAX-1 gene as do normal XX females, while normal XY males carry a single DAX-1 gene.Our data suggest that lesions affecting SOX9 expression are the key factor in sex determination in SRY-negative XX males, and that the decreased expression of Ad4BP/SF-1, DAX-1 and MIS contribute to their clinical features.
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SOX9
Sex reversal
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Objective: To investigate the effect of sex-determining region of the Y chromosome (SRY) on sexual differentiation. Methods: The SRY genes of 8 patients with sexual differentiation were detected by polymerase chain reaction and the chromosome karyotypes were analyzed. Results: The SRY genes were positive in four female cases with 46, XY. The SRY was positive in one out of four male cases with 46, XX male while the rest were negative. Conclusions: Detection of the SRY gene plays an important role in sexual abnormal development diagnosis.
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Sexual Differentiation
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The decision of the bi-potential gonad to develop into either a testis or ovary is determined by the presence or absence of the Sex-determining Region gene on the Y chromosome (SRY). Since its discovery, almost 13 years ago, the molecular role that SRY plays in initiating the male sexual development cascade has proven difficult to ascertain. While biochemical studies of clinical mutants and mouse genetic models have helped in our understanding of SRY function, no direct downstream targets of SRY have yet been identified. There are, however, a number of other genes of equal importance in determining sexual phenotype, expressed before and after expression of SRY. Of these, one has proven of central importance to mammals and vertebrates, SOX9. This review describes our current knowledge of SRY and SOX9 structure and function in the light of recent key developments.
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SOX9
Sex reversal
Sexual Differentiation
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Objective:To investigate the relationship between Karyotype and SRY gene in patients of sex abnormality with differentiation and development.Methods:SRY gene detection with polymerase chain reaction(PCR) and karyotype were detected in 36 patients of sex abnormality.Results:10 cases SRY +,2 cases SRY-in 12 Turner,s syndrome;5 cases SRY +,2 cases SRY-in pure female sex gland abnormality.3 cases 47,XXY,2 cases SRY +,1 cases SRY-;in 7 cases pure testis abnormality,5 cases SRY +,2 cases SRY-.2 females 46,XY,SRY +,1man 46,XX,SRY-.Conclusion:SRY gene play an important role in sex differentiation and development.Detecting SRY gene will provide differential diagnosis for patients of sex abnomole.
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Abnormality
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Testis determining factor
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The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.
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Sexual Differentiation
SOX9
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Hepatoduodenal ligament
Gallbladder Cancer
Bile Duct Carcinoma
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