{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:17:08Z","timestamp":1779931028863,"version":"3.53.1"},"reference-count":60,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["RE 3647\/1-1 and\/1-2"],"award-info":[{"award-number":["RE 3647\/1-1 and\/1-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by oligo\/amenorrhea and hypergonadotropic hypogonadism and is caused by the expansion of the CGG repeat in the 5\u2032UTR of Fragile X Mental Retardation 1 (FMR1). Approximately 20% of women carrying an FMR1 premutation (PM) allele (55\u2013200 CGG repeat) develop FXPOI. Repeat Associated Non-AUG (RAN)-translation dependent on the variable CGG-repeat length is thought to cause FXPOI, due to the production of a polyglycine-containing FMR1 protein, FMRpolyG. Peripheral blood monocyte cells (PBMCs) and granulosa cells (GCs) were collected to detect FMRpolyG and its cell type-specific expression in FMR1 PM carriers by immunofluorescence staining (IF), Western blotting (WB), and flow cytometric analysis (FACS). For the first time, FMRpolyG aggregates were detected as ubiquitin-positive inclusions in PBMCs from PM carriers, whereas only a weak signal without inclusions was detected in the controls. The expression pattern of FMRpolyG in GCs was comparable to that in the lymphocytes. We detected FMRpolyG as a 15- to 25-kDa protein in the PBMCs from two FMR1 PM carriers, with 124 and 81 CGG repeats. Flow cytometric analysis revealed that FMRpolyG was significantly higher in the T cells from PM carriers than in those from non-PM carriers. The detection of FMRpolyG aggregates in the peripheral blood and granulosa cells of PM carriers suggests that it may have a toxic potential and an immunological role in ovarian damage in the development of FXPOI.<\/jats:p>","DOI":"10.3390\/genes13030451","type":"journal-article","created":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T08:17:03Z","timestamp":1646122623000},"page":"451","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0924-7523","authenticated-orcid":false,"given":"Xuan Phuoc","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Vilkaite","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitta","family":"Messmer","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0022-9502","authenticated-orcid":false,"given":"Jens E.","family":"Dietrich","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hinderhofer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knut","family":"Sch\u00e4kel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Strowitzki","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4409-4697","authenticated-orcid":false,"given":"Julia","family":"Rehnitz","sequence":"additional","affiliation":[{"name":"Department of Gynecological Endocrinology and Fertility Disorders, University Women\u2019s Hospital, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/humrep\/dew027","article-title":"ESHRE Guideline: Management of women with premature ovarian insufficiency","volume":"31","author":"Webber","year":"2016","journal-title":"Hum. 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