title: Telomere homeostasis is compromised in spermatocytes from patients with idiopathic infertility.
abstract: OBJECTIVE
  To study whether the telomere structure of germ cells from idiopathic infertile men is altered and if this impairment is influenced by meiotic recombination and telomere length.
  
  
  METHODS
  We performed a detailed analysis of both telomeric repeat-containing RNA (TERRA) and telomerase distribution in testis cell spreads by combining immunofluorescence and RNA fluorescent in situ hybridization. In addition we analyzed meiotic recombination between homologous chromosomes by immunofluorescence and telomere length by quantitative fluorescent in situ hybridization.
  
  
  METHODS
  University.
  
  
  METHODS
  Men consulting for fertility problems.
  
  
  METHODS
  Unilateral testicular biopsies.
  
  
  METHODS
  We observed that TERRA levels and its nuclear distribution were compromised in infertile patients. In addition, the presence of the protein component of telomerase at telomeres decreased in the affected patients. However, neither telomerase-TERRA association nor telomere length was altered in spermatocytes I of infertile samples compared with control individuals. In addition, we observed that meiotic recombination was reduced in infertile individuals.
  
  
  RESULTS
  Telomere homeostasis is impaired in infertile patients, and this was translated into a decrease in TERRA levels together with an alteration of the TERRA-protein component of telomerase telomeric association in primary spermatocytes.
  
  
  CONCLUSIONS
  This study demonstrates for the first time that telomere structure and homeostasis in germ cells is compromised in infertile individuals. In the light of our results we propose that the analysis of telomeric structure (i.e., TERRA levels and telomere association with TERRA and telomerase) would provide new tools for our understanding of the origin of human infertility.
authors.affiliation: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain; Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain.
authors.forename: Rita
authors.initials: R
authors.lastname: Reig-Viader
authors.affiliation: Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Capilla
authors.affiliation: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Vila-Cejudo
authors.affiliation: Fecunmed, Casals s/n, Granollers, Spain.
authors.forename: Ferrán
authors.initials: F
authors.lastname: Garcia
authors.affiliation: Fecunmed, Casals s/n, Granollers, Spain.
authors.forename: Begoña
authors.initials: B
authors.lastname: Anguita
authors.affiliation: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain; Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Garcia-Caldés
authors.affiliation: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain; Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain. Electronic address: aurora.ruizherrera@uab.cat.
authors.forename: Aurora
authors.initials: A
authors.lastname: Ruiz-Herrera
mesh_terms: D016022:Case-Control Studies; D002467:Cell Nucleus / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000378:metabolism; D006367:HeLa Cells; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011995:Recombination, Genetic; D013090:Spermatocytes / Q000378:metabolism*; D019098:Telomerase / Q000378:metabolism; D016615:Telomere / Q000378:metabolism; D059505:Telomere Homeostasis; D014157:Transcription Factors / Q000378:metabolism
chemical_list: C119852:DMRT2 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors; C509186:TERT protein, human; D019098:Telomerase
keywords: TERRA; infertility; meiosis; recombination; spermatocytes; telomerase; telomeres