Localization and gene expression of steroid sulfatase by RT-PCR in cumulus cells and relationship to serum FSH levels observed during in vitro fertilization

Otsuka, Yukiko; Yanaihara, Atsushi; Iwasaki, Shinji; Hasegawa, Junichi; Yanaihara, Takumi; Okai, Takashi

doi:10.1186/1743-1050-2-6

Cited by 4 publications

(3 citation statements)

References 24 publications

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“…Another reported CNV, of uncertain significance because it was shared between patients and controls (Supplementary Fig. S1), was the duplication encompassing the STS gene which is involved in the steroidogenesis (Otsuka et al , 2005). Besides its previous identification in two SA patients (Quilter et al , 2010; Tsuiko et al , 2016), the evidence of the same CNV in controls highlights its unclear role in POI pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

et al. 2019

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STUDY QUESTION Can high resolution array-CGH analysis on a cohort of women showing a primary ovarian insufficiency (POI) phenotype in young age identify copy number variants (CNVs) with a deleterious effect on ovarian function? SUMMARY ANSWER This approach has proved effective to clarify the role of CNVs in POI pathogenesis and to better unveil both novel candidate genes and pathogenic mechanisms. WHAT IS KNOWN ALREADY POI describes the progression toward the cessation of ovarian function before the age of 40 years. Genetic causes are highly heterogeneous and despite several genes being associated with ovarian failure, most of genetic basis of POI still needs to be elucidated. STUDY DESIGN, SIZE, DURATION The current study included 67 46,XX patients with early onset POI (<19 years) and 134 control females recruited between 2012 and 2016 at the Medical Cytogenetics and Molecular Genetics Lab, IRCCS Istituto Auxologico Italiano. PARTICIPANTS/MATERIALS, SETTING, METHODS High resolution array-CGH analysis was carried out on POI patients’ DNA. Results of patients and female controls were analyzed to search for rare CNVs. All variants were validated and subjected to a gene content analysis and disease gene prioritization based on the present literature to find out new ovary candidate genes. Case-control study with statistical analysis was carried out to validate our approach and evaluate any ovary CNVs/gene enrichment. Characterization of particular CNVs with molecular and functional studies was performed to assess their pathogenic involvement in POI. MAIN RESULTS AND THE ROLE OF CHANCE We identified 37 ovary-related CNVs involving 44 genes with a role in ovary in 32 patients. All except one of the selected CNVs were not observed in the control group. Possible involvement of the CNVs in POI pathogenesis was further corroborated by a case-control analysis that showed a significant enrichment of ovary-related CNVs/genes in patients ( P = 0.0132; P = 0.0126). Disease gene prioritization identified both previously reported POI genes (e.g. BMP15 , DIAPH2 , CPEB1 , BNC1 ) and new candidates supported by transcript and functional studies, such as TP63 with a role in oocyte genomic integrity and VLDLR which is involved in steroidogenesis. LARGE SCALE DATA ClinVar database ( ); accession numbers SCV000787656 to SCV000787743. LIMITATIONS, REASONS FOR CAUTION This is a descriptive analysis for almost all of the CNVs identified. Inheritance studies of CNVs in some non-familial sporadic cases was not performed as the parents’ DNA samples were not available. Addionally, RT-qP...

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Section: Discussionmentioning

confidence: 99%

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

et al. 2019

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“…STS tissue activity fluctuates depending on physiological conditions, but exactly which factors regulate these changes remains unknown. For example, STS activity is higher in leukocytes in the third trimester of human pregnancy compared to nonpregnant females and adult males ( 48 ), an effect possibly regulated by elevated FSH concentrations ( 49 ). Furthermore, and again as measured in leukocytes, STS activity changes throughout puberty, differing between males and females and being at its highest in prepubertal females ( 50 ).…”

Section: Steroid Sulfatasesmentioning

confidence: 99%

The Regulation of Steroid Action by Sulfation and Desulfation

et al. 2015

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Steroid sulfation and desulfation are fundamental pathways vital for a functional vertebrate endocrine system. After biosynthesis, hydrophobic steroids are sulfated to expedite circulatory transit. Target cells express transmembrane organic anion-transporting polypeptides that facilitate cellular uptake of sulfated steroids. Once intracellular, sulfatases hydrolyze these steroid sulfate esters to their unconjugated, and usually active, forms. Because most steroids can be sulfated, including cholesterol, pregnenolone, dehydroepiandrosterone, and estrone, understanding the function, tissue distribution, and regulation of sulfation and desulfation processes provides significant insights into normal endocrine function. Not surprisingly, dysregulation of these pathways is associated with numerous pathologies, including steroid-dependent cancers, polycystic ovary syndrome, and X-linked ichthyosis. Here we provide a comprehensive examination of our current knowledge of endocrine-related sulfation and desulfation pathways. We describe the interplay between sulfatases and sulfotransferases, showing how their expression and regulation influences steroid action. Furthermore, we address the role that organic anion-transporting polypeptides play in regulating intracellular steroid concentrations and how their expression patterns influence many pathologies, especially cancer. Finally, the recent advances in pharmacologically targeting steroidogenic pathways will be examined.

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“…In investigating gene expression in cumulus cells, RNA extraction from a large number of the cumulus cells collected from many COCs [ 12 ] may allow us to determine a low copy-number target. However, it is difficult to determine the kinetics of gene expression in cumulus cells during oocyte maturation, when a large number of cumulus cells from COCs at the same stage could not be collected.…”

Section: Resultsmentioning

confidence: 99%

Easy and rapid method for the determination of gene expression in cumulus cells incubated for oocyte maturation

Kumamoto

Wang

Yamashiro

et al. 2005

Reprod Biol Endocrinol

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Localization and gene expression of steroid sulfatase by RT-PCR in cumulus cells and relationship to serum FSH levels observed during in vitro fertilization

Cited by 4 publications

References 24 publications

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

The Regulation of Steroid Action by Sulfation and Desulfation

Easy and rapid method for the determination of gene expression in cumulus cells incubated for oocyte maturation

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