Involvement of ITIH5, a candidate gene for congenital uterovaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome), in female genital tract development.

Karine Morcel 1, 2, * Tanguy Watrin 2 Frédérique Jaffre 1, 2 Stéphane Deschamps 2 Francis Omilli 2 Isabelle Pellerin 2 Jean Levêque 1 Daniel Guerrier 2
* Auteur correspondant
1 Service de Gynécologie et Obstétrique [Rennes]
2 IGDR - Institut de Génétique et Développement de Rennes
Abstract : The ITI (inter-trypsine inhibitor) gene family includes five genes (ITIH1 to ITIH5) that encode proteins involved in the dynamics of the extracellular matrix (ECM). ITIH5 was found inactivated by partial deletion in a case of congenital uterovaginal aplasia, a human rare disease also called Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. The aim of the present study was to analyze the expression of ITIH5 in the uterus in adult life and during embryogenesis in order to establish the involvement of this gene in both normal and pathological conditions of uterus development. This was achieved in mice by reverse transcription-quantitative PCR, whole-mount hybridization, and Western blot analysis. Itih5 expression was much stronger in female genital tract primordia (Müllerian ducts) and derivatives than elsewhere in the body. This gene was strongly expressed during pregnancy and development of the female genital tract, indicating that the encoded protein probably had an important function in the uterus during these periods. Two different specific isoforms of the protein were detected in Müllerian derivatives during embryogenesis and in adults. Although ITIH genes are expected to be predominantly expressed in the liver, ITIH5 is mainly expressed in the uterus during development and adult life. This tends to indicate an additional and specific role of this gene in the female reproductive tract, and furthermore reinforces ITIH5 as a putative candidate gene for MRKH syndrome.
Keywords : Congenital uterovaginal aplasia Extracellular matrix Female ITIH5 MRKH syndrome Mouse
Type de document :
Article dans une revue
Gene Expression: International Journal of Molecular and Cellular Science, Cognizant Communication Corporation, 2012, 15 (5-6), pp.207-14. 〈10.3727/105221613X13571653093169〉
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Contributeur : Morgane Le Corre <>
Soumis le : mardi 8 octobre 2013 - 13:01:15
Dernière modification le : mercredi 16 mai 2018 - 11:24:04

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IGDR | BIOSIT | UR1-UFR-SVE | UNIV-RENNES

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Karine Morcel, Tanguy Watrin, Frédérique Jaffre, Stéphane Deschamps, Francis Omilli, et al.. Involvement of ITIH5, a candidate gene for congenital uterovaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome), in female genital tract development.. Gene Expression: International Journal of Molecular and Cellular Science, Cognizant Communication Corporation, 2012, 15 (5-6), pp.207-14. 〈10.3727/105221613X13571653093169〉. 〈inserm-00870912〉

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