Article Text

other Versions

PDF
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background
  1. Csilla Krausz (c.krausz{at}dfc.unifi.it)
  1. University of Florence, Dep. of Clinical Physiopathology, Andrology Unit, Italy
    1. Claudia Giachini (giachini.claudia{at}gmail.com)
    1. University of Florence, Dep. of Clinical Physiopathology, Andrology Unit, Italy
      1. Yali Xue (ylx{at}sanger.ac.uk)
      1. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, United Kingdom
        1. Moira K. O'Bryan (moira.obryan{at}med.monash.edu.au)
        1. Monash University, Monash Institute of Medical Research and the Australian Research Centre of Excel, Australia
          1. Joerg Gromoll (joerg.gromoll{at}ukmuenster.de)
          1. Institute of Reproductive Medicine University of Muenster, Germany
            1. Ewa Rajpert-de Meyts (ewa.rajpert-de.meyts{at}rh.regionh.dk)
            1. Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Denmark
              1. Rafael Oliva (roliva{at}ub.edu)
              1. Hospital Clínic, Faculty of Medicine, University of Barcelona, Spain
                1. Isabelle Aknin-Seifer (isabelle.aknin{at}univ-st-etienne.fr)
                1. Hôpital Nord Saint-Etienne, Laboratoire de Biologie de la Reproduction, France
                  1. Edit Erdei (eerdei{at}freestart.hu)
                  1. Andrology-Urology Division, National Health Center, Budapest, Hungary
                    1. Niels Jorgensen
                    1. Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Denmark
                      1. Manuela Simoni (manuela.simoni{at}unimore.it)
                      1. Institute of Reproductive Medicine University of Muenster, Germany
                        1. José Luis Ballescà
                        1. Institut Clínic of Gynecology, Obstetrics and Neonatology, Hospital Clínic,, Spain
                          1. Rachel Levy (rachel.levy{at}jvr.aphp.fr)
                          1. Laboratoire d’Histologie Embryologie Cytogénétique Biologie de la reproduction CECOS, France
                            1. Giancarlo Balercia (g.balercia{at}ao-umbertoprimo.marche.it)
                            1. Division of Endocrinology, Institute of Internal Medicine Polytechnic University of Marche,, Italy
                              1. Paola Piomboni (piomboni{at}unisi.it)
                              1. Dept. of Surgery - Biology Section, University of Siena, Italy
                                1. Eberhart Nieschlag (eberhard.nieschlag{at}ukmuenster.de)
                                1. Institute of Reproductive Medicine University of Muenster, Germany
                                  1. Gianni Forti (g.forti{at}dfc.unifi.it)
                                  1. Andrology Unit, Department of Clinical Physiopathology, University of Florence, Italy
                                    1. Rob McLachlan (rob.mclachlan{at}princehenrys.org)
                                    1. Prince Henry's Institute, Monash Medical Centre, Australia
                                      1. Chris Tyler-Smith (cts{at}sanger.ac.uk)
                                      1. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, United Kingdom

                                        Abstract

                                        Background: Men with partial (gr/gr) deletions within the AZFc region of the Y chromosome can exhibit a sperm phenotype that ranges from normozoospermia to azoospermia. The basis of this variation is unknown, but differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. We set out to test these possibilities in a large sample of gr/gr carriers with known phenotypes spanning the complete range.

                                        Results: We assembled a collection of 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia, and characterized the DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup. Although our study had good power to detect factors that accounted for ¡Ý5.5% of the variation in sperm concentration, no such factor was detected. A negative effect of gr/gr deletions followed by b2/b4 duplication was observed within the normospermic group, which remains to be further explored in a larger study population. Finally, we observed significant geographical differences in the frequency of different subtypes of gr/gr deletions which may have relevance for the interpretation of case controls studies dealing with admixed populations.

                                        Conclusions: We conclude that the phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.

                                        Statistics from Altmetric.com

                                        Request permissions

                                        If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.