Volume 13, Issue 2 (March 2011) 13, 212–218; 10.1038/aja.2011.1
Meiotic recombination and male infertility: from basic science to clinical reality?
Michael C Hann, Patricio E Lau and Helen G Tempest
Department of Human and Molecular Genetics, Herbert Wertheim College of Medicine, Florida International University,, Miami, FL 33199, USA
* These authors contributed equally to this work
Correspondence: Dr HG Tempest, (htempest@fiu.edu)
Received 2 December 2010; Accepted 6 January 2011; Published online 7 February 2011
Abstract |
Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.
Keywords: fluorescent in situ hybridization; immunofluorescence; male infertility; meiotic recombination; semen parameters; synaptonemal complex
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