Spécificité
The transforming growth factor β (TGFβ) superfamily is composed of numerous growth and differentiation factors, including TGFβ1-3, Mullerian inhibiting substance (MIS), growth/differentiation factor (GDF) 1-9, bone morphogenic protein (BMP) 2-8, glial cell line-derived neurotrophic factor (GDNF), Inhibin α,β-A, β-B and β-C, Lefty and Nodal. Members of the TGFβ superfamily are involved in embryonic development and adult tissue homeostasis. The MIS glycoprotein is produced by the Sertoli cells of the testes. Fetal testes produce both MIS and testosterone, the presence of which result in male offspring. Absence of MIS and testosterone in a developing fetus results in the induction of Mullerian duct differentiation, and Wolffian duct development is not induced. Testosterone induces the differentiation of the Wolffian ducts whereas MIS causes regression of the Muellerian duct. MIS inhibits the growth of tumors derived from tissues of Mullerian duct origin. MIS can also inhibit the autophosphorylation of the EGF receptor in vitro. Defects in anti-Muellerian hormone are the cause of persistent Muellerian duct syndrome type I (PMDS-1). PMDS-1 is a form of male pseudo hermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.