Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY
STUDY QUESTION: Which Y genes mapped to the‘Gonadoblastoma Y (GBY)’locus on human Y chromosome are expressed in germcells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)? SUMMARY ANSWER: The GBY candidate genesDDX3YandTSPYare exp...
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| Hauptverfasser: | , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
12 February 2019
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| In: |
Human reproduction
Year: 2019, Jahrgang: 34, Heft: 4, Pages: 770-779 |
| ISSN: | 1460-2350 |
| DOI: | 10.1093/humrep/dez004 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1093/humrep/dez004 Verlag, Volltext: https://academic.oup.com/humrep/article/34/4/770/5316209 
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| Verfasserangaben: | P.H. Vogt, B. Besikoglu, M. Bettendorf, P. Frank-Herrmann, J. Zimmer, U. Bender, S. Knauer-Fischer, D. Choukair, P. Sinn, Y.-F.C. Lau, P.H. Heidemann, and T. Strowitzki |
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| 245 | 1 | 0 | |a Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY |c P.H. Vogt, B. Besikoglu, M. Bettendorf, P. Frank-Herrmann, J. Zimmer, U. Bender, S. Knauer-Fischer, D. Choukair, P. Sinn, Y.-F.C. Lau, P.H. Heidemann, and T. Strowitzki |
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| 520 | |a STUDY QUESTION: Which Y genes mapped to the‘Gonadoblastoma Y (GBY)’locus on human Y chromosome are expressed in germcells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)? SUMMARY ANSWER: The GBY candidate genesDDX3YandTSPYare expressed in the germ cells of DSD-XY patients from distinct eti-ologies: patients with mixed gonadal dysgenesis (MGD) and sex chromosome mosaics (45,X0/46,XY; 46,XX/46,XY); patients with com-plete androgen insensitivity (CAIS), patients with complete gonadal dysgenesis (CGD; e.g. Swyer syndrome). WHAT IS KNOWN ALREADY: A GBY locus was proposed to be present on the human Y chromosome because only DSD patientswith a Y chromosome in their karyotype have a high—although variable—risk (up to 55%) for germ cell tumour development. GBY wasmapped to the proximal part of the short and long Y arm.TSPYlocated in the proximal part of the short Y arm (Yp11.1) was found to be astrong GBY candidate gene. It is expressed in the germ cells of DSD-XY patients with distinct etiologies but also in foetal and pre-meioticmale spermatogonia. However, the GBY region extends to proximal Yq11 and therefore includes probably more than one candidate gene. STUDY DESIGN,SIZE,DURATION: Protein expression of the putative GBY candidate gene in proximal Yq11,DDX3Y, is comparedwith that ofTSPYin serial gonadal tissue sections of 40 DSD-XY individuals from the three DSD patient groups (MGD, Complete AndrogenInsensitivity Syndrome [CAIS], CGD) with and without displaying malignancy. Expression of OCT3/4 in the same tissue samples marks therate of pluripotent germ cells.PARTICIPANTS/MATERIALS,SETTING,METHOD: A total of 145 DSD individuals were analysed for the Y chromosome to selectthe DSD-XY subgroup. PCR multiplex assays with Y gene specific marker set score for putative microdeletions in GBY Locus.Immunohistochemical experiments with specific antisera mark expression of the GBY candidate proteins, DDX3Y, TSPY, in serial sections ofthe gonadal tissue samples; OCT3/4 expression analyses in parallel reveal the pluripotent germ cell fraction | ||
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