Epimutations and male infertility

• Applicant: Professor Dr. Jörg Gromoll
• Subject Area: Gynaecology and Obstetrics
• Term: from 2006 to 2010
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 23978553

• Final Report Year: 2010

Final Report Abstract

In summary we assigned precise epigenetic signatures to the X chromosome of two types of sex chromosomal aberrations. For the first time we uncovered a DNA methylation marker that clearly distinguishes Klinefelter syndrome from 46,XX maleness. We hypothesise that genes escaping X chromosome inactivation have a crucial impact on the pathogenesis of Klinefelter syndrome as these additional transcripts clearly distinguish 47,XXY Klinefelter patients from normal 46,XY males.

Publications

• Epimutations and Male Infertility. Dissertation
  Andreas Poplinski
  
• ‚Crosstalk of Sex Chromosomes’ 15th European Testis Workshop in Nanntali, Finland (2nd – 6th May 2008)
  Poplinski A, Nieschlag E, Gromoll J
  
• (2009) Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. International Journal of Andrology, ePub ahead of print
  A Poplinski, F Tüttelmann, D Kanber, B Horsthemke, J Gromoll
  
• ‘Epigenetic characterisation of sex chromosomal aneuploidies’ 52. Symposion der Deutschen Gesellschaft für Endokrinologie in Gießen, Germany (4th – 7th March 2009)
  Poplinski A, Wieacker P, Gromoll J
  
• ‘X chromosome inactivation and methylation in male mice with a supernumerary X-chromosome’ 1st Symposium of the Clinical Research Unit KFO 181, Molecular Andrology in Gießen, Germany (8th – 10th May, 2009)
  Wistuba J, Werler S, Damm OS, Ehmcke J, Poplinski A, Gromoll J
  
• ‚Epimutations and Male Infertility’ ICA 2009 satellite symposium ‘Sperm DNA Damage: From Research to Clinic” in Rome, Italy (11th – 13th March 2009)
  Poplinski A, Tüttelmann F, Gromoll J
  
• ‚Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1’ 3rd Dachverband der Reproduktionsbiologie und –medizin e.V. meeting in Freiburg, Germany (11th – 14th November, 2009)
  Poplinski A, Kliesch S, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J
  
• (2010) Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. European Journal of Endocrinology, 2010 Jan;162(1):169-75
  A Poplinski, P Wieacker, S Kliesch, J Gromoll
  
• Aberrant Imprinting and Impaired Spermatogenesis – Clinical Associations and Epigenetic Variability. Epigenetic World Congress in Boston, USA (6th – 7th May, 2010)
  Poplinski A, Kliesch S, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J
  
• Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. 16th European Workshop on Molecular and Cellular Endocrinology of the Testis, Elba, Italy (8th – 12th May 2010)
  Poplinski A, Kliesch S, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J, Schlatt S