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Exploration du génome et de l'épigénome dans les troubles sévères de la spermatogenèse chez l'homme

Abstract : The aim of the present work is to investigate the role of genetic and epigenetic anomalies in severe spermatogenesis impairment.
First, we looked for somatic mosaicisms for the Y microdeletion in 44 infertile patients, and no mosaicism was observed. We have also studied the Y chromosome of 3 infertile patients with a Y rearrangement. This investigation allowed a more precise description of the abnormal Y and shed light on how Y chromosomal rearrangements could be involved in the infertility phenotype. Second, the sperm aneuploidy rates for chromosome X, Y, 18, 13 and 21, were assessed by FISH in 31 infertile patients. Nearly half of the infertile patients had a significantly increased disomy rate. Moreover, we have identified four clinical and/or biological factors associated with higher numbers of aneuploid sperm. Finally, the presence of highly acetylated histone H4 was detected on testicular sections from 33 men with Sertoli cell only syndrome and/or a testicular tumour. In tubules lacking meiotic and post-meiotic germ cells, the Sertoli cells' nuclei showed a global increase in H4 acetylation. This result suggests that histone acetylation could be part of an intercellular signalling pathway involving Sertoli cells and germinal cells, which could be deregulated in SCO syndromes and testicular cancers. Finally, this work could contribute to the improvement of the clinical care of severe male infertility cases.
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Contributor : Anne-Karen Faure <>
Submitted on : Monday, February 11, 2008 - 3:43:26 PM
Last modification on : Friday, November 6, 2020 - 4:03:55 AM
Long-term archiving on: : Monday, May 17, 2010 - 8:11:56 PM


  • HAL Id : tel-00250307, version 1




Anne-Karen Faure. Exploration du génome et de l'épigénome dans les troubles sévères de la spermatogenèse chez l'homme. Biologie de la reproduction. Université Joseph-Fourier - Grenoble I, 2007. Français. ⟨tel-00250307⟩



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