Human-specific subcellular compartmentalization of P-element induced wimpy testis-like (PIWIL) granules during germ cell development and spermatogenesis
| Autor: | Gomes Fernandes, Maria, He, Nannan, Wang, Fang, Van Iperen, Liesbeth, Eguizabal, Cristina, Matorras, Roberto, Roelen, Bernard A J, Chuva de Sousa Lopes, Susana M, Energy System Analysis, Sub Celbiologisch lab., LS Voortplanting Inwendige Ziekten, dES/dFAH FR |
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| Přispěvatelé: | Energy System Analysis, Sub Celbiologisch lab., LS Voortplanting Inwendige Ziekten, dES/dFAH FR |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine PIWIL INTERACTING RNA PATHWAY Germline DEAD-box RNA Helicases Fetal Development Mice 0302 clinical medicine Ovarian Follicle Pregnancy GENETIC-VARIANTS MOUSE MAELSTROM subcellular localization Medicine and Health Sciences meiosis Cellular localization Reproductive Biology Membrane Glycoproteins 030219 obstetrics & reproductive medicine Rehabilitation RNA-Binding Proteins Obstetrics and Gynecology Spermatozoa NUAGE medicine.anatomical_structure PIRNA PATHWAY Argonaute Proteins Original Article Female STEM-CELLS Germ cell MIWI subcellar localization PROTEINS OOCYTES Piwi-interacting RNA Biology intermitochondrial cement gametogenesis Andrology 03 medical and health sciences medicine Animals Humans human oocyte development Gametogenesis Spermatid Biology and Life Sciences Oocyte chromatoid body Spermatogonia spermatogenesis Cell Compartmentation 030104 developmental biology Reproductive Medicine Oocytes Chromatoid body |
| Zdroj: | HUMAN REPRODUCTION Human Reproduction Human Reproduction, 33(2), 258. NLM (Medline) Human Reproduction (Oxford, England) Human Reproduction, 33(2), 258-269 |
| ISSN: | 0268-1161 1460-2350 |
| Popis: | Study question What is the dynamics of expression of P-element induced wimpy testis-like (PIWIL) proteins in the germline during human fetal development and spermatogenesis? Summary answer PIWIL1, PIWIL2, PIWIL3 and PIWIL4 were expressed in a sex-specific fashion in human germ cells (GC) during development and adulthood. PIWILs showed a mutually exclusive pattern of subcellular localization. PIWILs were present in the intermitochondrial cement and a single large granule in meiotic GC and their expression was different from that observed in mice, highlighting species-differences. What is known already In mice, PIWIL proteins play prominent roles in male infertility. PIWIL mouse mutants show either post-meiotic arrest at the round spermatid stage (PIWIL1) or arrest at the zygotene-pachytene stage of meiosis I (PIWIL2 and PIWIL4) in males, while females remain fertile. Recent studies have reported a robust piRNA pool in human fetal ovary. Study design, size, duration This is a qualitative analysis of PIWILs expression in paraffin-embedded fetal human male (N = 8), female gonads (N = 6) and adult testes (N = 5), and bioinformatics analysis of online available single-cell transcriptomics data of human fetal germ cells (n = 242). Participants/materials, setting, methods Human fetal gonads from elective abortion without medical indication and adult testes biopsies were donated for research with informed consent. Samples were fixed, paraffin-embedded and analyzed by immunofluorescence to study the temporal and cellular localization of PIWIL1, PIWIL2, PIWIL3 and PIWIL4. Main results and the role of chance PIWIL1, PIWIL2 and PIWIL4 showed a mutually exclusive pattern of subcellular localization, particularly in female oocytes. To our surprise, PIWIL1 immunostaining revealed the presence of a single dense paranuclear body, resembling the chromatoid body of haploid spermatocytes, in meiotic oocytes. Moreover, in contrast to mice, PIWIL4, but not PIWIL2, localized to the intermitochondrial cement. PIWIL3 was not expressed in GC during development. The upregulation of PIWIL transcripts correlated with the transcription of markers associated with piRNAs biogenesis like the TDRDs and HENMT1 in fetal GC. Large scale data Non-applicable. Limitations, reasons for caution This study is limited by the restricted number of samples and consequently stages analyzed. Wider implications of the findings In the germline, PIWILs ensure the integrity of the human genome protecting it from 'parasitic sequences'. This study offers novel insights on the expression dynamics of PIWILs during the window of epigenetic remodeling and meiosis, and highlights important differences between humans and mice, which may prove particularly important to understand causes of infertility and improve both diagnosis and treatment in humans. Study funding/competing interest(s) M.G.F. was funded by Fundacao para a Ciencia e Tecnologia (FCT) [SFRH/BD/78689/2011]; N.H. by China Scholarship Council (CSC) [No. 201307040026] and F.W. by Medical Personnel Training Abroad Project of Henan Province [No. 2015022] and S.M.C.d.S.L. by the Netherlands Organization of Scientific Research (NWO) [ASPASIA 015.007.037] and the Interuniversity Attraction Poles-Phase VII [IUAP/PAI P7/14]. The authors have no conflicts of interest to declare. |
| Databáze: | OpenAIRE |
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