Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure

The molecular basis of spermatogenic failure (SpF) is still largely unknown. Accumulating evidence suggests that a series of specific events such as meiosis, are determined at the early stage of spermatogenesis. This study aims to assess the expression profile of pre-meiotic genes of infertile testi...

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Detalles Bibliográficos
Autores: Bonache, Sandra, Algaba, Ferran, Franco, Eladio, Bassas, Lluís, Larriba, Sara
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2014
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/186635
Acceso en línea:https://hdl.handle.net/2445/186635
Access Level:acceso abierto
Palabra clave:Espermatogènesi
Meiosi
Spermatogenesis
Meiosis
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spelling Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failureBonache, SandraAlgaba, FerranFranco, EladioBassas, LluísLarriba, SaraEspermatogènesiMeiosiSpermatogenesisMeiosisThe molecular basis of spermatogenic failure (SpF) is still largely unknown. Accumulating evidence suggests that a series of specific events such as meiosis, are determined at the early stage of spermatogenesis. This study aims to assess the expression profile of pre-meiotic genes of infertile testicular biopsies that might help to define the molecular phenotype associated with human deficiency of sperm production. An accurate quantification of testicular mRNA levels of genes expressed in spermatogonia was carried out by RT-qPCR in individuals showing SpF owing to germ cell maturation defects, Sertoli cell-only syndrome or conserved spermatogenesis. In addition, the gene expression profile of SpF was compared with that of testicular tumour, which is considered to be a severe developmental disease of germ cell differentiation. Protein expression from selected genes was evaluated by immunohistochemistry. Our results indicate that SpF is accompanied by differences in expression of certain genes associated with spermatogonia in the absence of any apparent morphological and/or numerical change in this specific cell type. In SpF testicular samples, we observed down-regulation of genes involved in cell cycle (CCNE1 and POLD1), transcription and post-transcription regulation (DAZL, RBM15 and DICER1), protein degradation (FBXO32 and TM9SF2) and homologous recombination in meiosis (MRE11A and RAD50) which suggests that the expression of these genes is critical for a proper germ cell development. Interestingly, a decrease in the CCNE1, DAZL, RBM15 and STRA8 cellular transcript levels was also observed, suggesting that the gene expression capacity of spermatogonia is altered in SpF contributing to an unsuccessful sperm production. Altogether, these data point to the spermatogenic derangement being already determined at, or arising in, the initial stages of the germ line.Wiley2022202220142022info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion80 p.application/pdfhttps://hdl.handle.net/2445/186635Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésPostprint del document publicat a: https://doi.org/10.1111/j.2047-2927.2014.00217.xAndrology, 2014, vol. 2, num. 4, p. 596-606https://doi.org/10.1111/j.2047-2927.2014.00217.x(c) American Society of Andrology and European Academy of Andrology, 2014info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1866352026-05-29T05:05:01Z
dc.title.none.fl_str_mv Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
title Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
spellingShingle Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
Bonache, Sandra
Espermatogènesi
Meiosi
Spermatogenesis
Meiosis
title_short Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
title_full Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
title_fullStr Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
title_full_unstemmed Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
title_sort Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure
dc.creator.none.fl_str_mv Bonache, Sandra
Algaba, Ferran
Franco, Eladio
Bassas, Lluís
Larriba, Sara
author Bonache, Sandra
author_facet Bonache, Sandra
Algaba, Ferran
Franco, Eladio
Bassas, Lluís
Larriba, Sara
author_role author
author2 Algaba, Ferran
Franco, Eladio
Bassas, Lluís
Larriba, Sara
author2_role author
author
author
author
dc.subject.none.fl_str_mv Espermatogènesi
Meiosi
Spermatogenesis
Meiosis
topic Espermatogènesi
Meiosi
Spermatogenesis
Meiosis
description The molecular basis of spermatogenic failure (SpF) is still largely unknown. Accumulating evidence suggests that a series of specific events such as meiosis, are determined at the early stage of spermatogenesis. This study aims to assess the expression profile of pre-meiotic genes of infertile testicular biopsies that might help to define the molecular phenotype associated with human deficiency of sperm production. An accurate quantification of testicular mRNA levels of genes expressed in spermatogonia was carried out by RT-qPCR in individuals showing SpF owing to germ cell maturation defects, Sertoli cell-only syndrome or conserved spermatogenesis. In addition, the gene expression profile of SpF was compared with that of testicular tumour, which is considered to be a severe developmental disease of germ cell differentiation. Protein expression from selected genes was evaluated by immunohistochemistry. Our results indicate that SpF is accompanied by differences in expression of certain genes associated with spermatogonia in the absence of any apparent morphological and/or numerical change in this specific cell type. In SpF testicular samples, we observed down-regulation of genes involved in cell cycle (CCNE1 and POLD1), transcription and post-transcription regulation (DAZL, RBM15 and DICER1), protein degradation (FBXO32 and TM9SF2) and homologous recombination in meiosis (MRE11A and RAD50) which suggests that the expression of these genes is critical for a proper germ cell development. Interestingly, a decrease in the CCNE1, DAZL, RBM15 and STRA8 cellular transcript levels was also observed, suggesting that the gene expression capacity of spermatogonia is altered in SpF contributing to an unsuccessful sperm production. Altogether, these data point to the spermatogenic derangement being already determined at, or arising in, the initial stages of the germ line.
publishDate 2014
dc.date.none.fl_str_mv 2014
2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/186635
url https://hdl.handle.net/2445/186635
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Postprint del document publicat a: https://doi.org/10.1111/j.2047-2927.2014.00217.x
Andrology, 2014, vol. 2, num. 4, p. 596-606
https://doi.org/10.1111/j.2047-2927.2014.00217.x
dc.rights.none.fl_str_mv (c) American Society of Andrology and European Academy of Andrology, 2014
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) American Society of Andrology and European Academy of Andrology, 2014
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 80 p.
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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