> Stages de M2 > Liste des stages proposés pour l année 2018-2019 > Genetics and Patho-physiology of Human Asthenozoospermia

Genetics and Patho-physiology of Human Asthenozoospermia

proposé par Dr Aminata TOURE , Laboratoire Génomique, Epigénétique et Physiopathologie de la Reproduction Institut Cochin Inserm U-1016 75014 Paris

Projet de stage :

Infertility is a major public health issue currently affecting an estimated 7%–12% of couples worldwide. Various sperm defects are responsible for male infertility, including asthenozoospermia, which is defined by the absence or the reduction of sperm motility. Despite its high prevalence, very little is known about the genetic abnormalities potentially underlying human asthenozoospermia. During the last years our laboratory has been interested in the molecular mechanisms underlying the process of sperm flagellum assembly and sperm motility, together with the pathophysiological events associated with human asthenozoospermia. In particular, we have identified the sperm specific protein SLC26A8 as an anion exchanger essential for the activation of the sperm motility ; our work indicates SLC26A8 cooperates with the chloride channel CFTR to control sperm motility in both mouse and human. Beside, by exome sequencing of asthenozoospermic patients, we identified several gene encoding axonemal proteins, which are required for proper sperm flagellum assembly. The internship we propose aims at identifying further genes required for the control of sperm motility by sequencing of infertile patients defining the molecular mechanisms that are implicated. The program involves a broad range of technics in the field of genetics and cellular biology : molecular biology, biochemistry, cell culture, immunohistochemistry, electron microscopy. Techniques mises en œuvre par le stagiaire : Biologie moléculaire, biochimie, culture cellulaire, Immuno-histochimie, microscopie photonique, confocale et electronique

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