SRY protein is expressed in ovotestis and streak gonads from human sex-reversal

Salas-Cortes, L.; Jaubert, Françis; Nihoul‐Feketé, Claire; Brauner, Raja; Rosemblatt, Mario; Fellous, Marc

doi:10.1159/000056847

Cited by 17 publications

(11 citation statements)

References 29 publications

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“…2005); however, in the streak gonads of our patient, the SRY‐immunopositive cells were evidently not those cells. SRY immunoexpression in streak gonads showing 46,XY gonadal dysgenesis without mutation in SRY has been reported by Salas‐cortés et al . (2000), and our findings support those of the previous study.…”

Section: Discussionsupporting

confidence: 58%

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Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

Mitsuhashi¹,

Warita

Sugawara³

et al. 2010

Congenital Anomalies

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In normal ontogenetic development, the expression of the sex-determining region of the Y chromosome (SRY) gene, involved in the first step of male sex differentiation, is spatiotemporally regulated in an elaborate fashion. SRY is expressed in germ cells and Sertoli cells in adult testes. However, only few reports have focused on the expressions of SRY and the other sex-determining genes in both the classical organ developing through these genes (gonad) and the peripheral tissue (skin) of adult XY females. In this study, we examined the gonadal tissue and fibroblasts of a 17-year-old woman suspected of having disorders of sexual differentiation by cytogenetic, histological, and molecular analyses. The patient was found to have the 46,X,inv(Y)(p11.2q11.2) karyotype and streak gonads with abnormally prolonged SRY expression. The sex-determining gene expressions in the patient-derived fibroblasts were significantly changed relative to those from a normal male. Further, the acetylated histone H3 levels in the SRY region were significantly high relative to those of the normal male. As SRY is epistatic in the sex-determination pathway, the prolonged SRY expression possibly induced a destabilizing effect on the expressions of the downstream sex-determining genes. Collectively, alterations in the sex-determining gene expressions persisted in association with disorders of sexual differentiation not only in the streak gonads but also in the skin of the patient. The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally.

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Section: Discussionsupporting

confidence: 58%

“…2009), sex chromosomal disorder (Piccione et al . 2008), and histopathological characteristics of an isolated gonad (Salas‐Cortés et al . 2000).…”

Section: Introductionmentioning

confidence: 99%

Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

Mitsuhashi¹,

Warita

Sugawara³

et al. 2010

Congenital Anomalies

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“…The distribution of SRY in the gonadal sample correlated exclusively with the areas containing these tubal cells, while the areas with ovarian stroma showed the 45,X karyotype. A similar distribution was reported by Salas Cortes [30] in patients with 46,XY pure gonadal dysgenesis. In the streak gonads of these patients, SRY was found in the nuclei of the rete and tubular cells.…”

Section: Discussionsupporting

confidence: 88%

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

et al. 2017

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Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a duplicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

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“…Another interesting finding in this patient was the identification of SRY by FISH in the ovarian portion of the gonad. These data indicate that the presence of this gene in undifferentiated gonadal cells does not guarantee the development of testicular tissue nor inhibit ovarian development, as recently shown by Salas-Cortes et al (2000). Ovarian development in the presence of SRY-bearing cells, might be related to nonacting SRY alleles, as suggested by experiments in murine models Burgoyne 1991a, 1991b;Patek et al 1991).…”

Section: Discussionmentioning

confidence: 68%

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

et al. 2002

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True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the development of testicular and ovarian tissue in the same subject. Approximately 60% of the patients have a 46,XX karyotype, 33% are mosaics with a second cell line containing a Y chromosome, while the remaining 7% are 46,XY. Molecular analyses have demonstrated that SRY is present in only 10% of TH with a 46,XX karyotype; therefore, in the remaining 90%, mutations at unknown X-linked or autosomal sex determining loci have been proposed as factors responsible for testicular development. True hermaphroditism presents considerable genetic heterogeneity with several molecular anomalies leading to the dual gonadal development as SRY point mutations or SRY hidden gonadal mosaicism. In order to identify genetic defects associated with subjects with the disease, we performed molecular analyses of the SRY gene in DNA from blood leukocytes and gonadal tissue in 12 true hermaphrodites with different karyotypes. Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites.

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SRY protein is expressed in ovotestis and streak gonads from human sex-reversal

Cited by 17 publications

References 29 publications

Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

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