title: Copy number variation associated with meiotic arrest in idiopathic male infertility.
abstract: OBJECTIVE
  To assess the association between copy number variations (CNVs) and meiotic arrest and azoospermic men.
  
  
  METHODS
  Genetic association study.
  
  
  METHODS
  University.
  
  
  METHODS
  Australian men: 19 with histologically confirmed meiotic arrest, 110 men with azoospermia in the absence of histologic data, and 97 fertile men (controls).
  
  
  METHODS
  None.
  
  
  METHODS
  The identification of CNV by microarray and/or multiplex ligation-dependent probe amplification (MLPA), and the localization of unique CNV encoded proteins to the human testis.
  
  
  RESULTS
  Microarray identified two CNVs unique to meiosis arrest patients. One containing the MYRIP gene and a second containing LRRC4C and the long noncoding RNA LOC100507205. All three genes are transcribed in the human testis, and MYRIP and LRRC4C localize to meiotic cells. The reverse genetic screen for CNVs in meiosis genes identified in mouse models further identified CNVs including HSPA2 as being associated with azoospermia.
  
  
  CONCLUSIONS
  These data raise the possibility that, while relatively rare, CNVs may contribute to human male infertility and that CNV screening should be incorporated into long-term plans for genome profiling as a diagnostic tool.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Eggers
authors.affiliation: Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria, Australia.
authors.forename: Kathleen D
authors.initials: KD
authors.lastname: DeBoer
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Jocelyn
authors.initials: J
authors.lastname: van den Bergen
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Gordon
authors.affiliation: Centre for Genetic Diseases, Monash Institute of Medical Research, Monash University, Clayton, Victoria, Australia.
authors.forename: Stefan J
authors.initials: SJ
authors.lastname: White
authors.affiliation: Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria, Australia.
authors.forename: Duangporn
authors.initials: D
authors.lastname: Jamsai
authors.affiliation: Prince Henry's Institute of Medical Research and Department of Obstetrics and Gynaecology, Monash Medical Centre, Clayton, Victoria, Australia; Monash IVF, Richmond, Victoria, Australia.
authors.forename: Robert I
authors.initials: RI
authors.lastname: McLachlan
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Sinclair
authors.affiliation: Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria, Australia. Electronic address: moira.obryan@monash.edu.
authors.forename: Moira K
authors.initials: MK
authors.lastname: O'Bryan
mesh_terms: D053713:Azoospermia / Q000235:genetics* / Q000473:pathology*; D059447:Cell Cycle Checkpoints / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D013737:Testis / Q000473:pathology* / Q000503:physiopathology*
chemical_list: D018797:Cell Cycle Proteins
keywords: Azoospermia; copy number variation; genetics; human