title: Mutations in inhibin and activin genes associated with human disease.
abstract: Inhibins and activins are members of the transforming growth factor (TGFβ) superfamily, that includes the TGFβs, inhibins and activins, bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs). The family members are expressed throughout the human body, and are involved in the regulation of a range of important functions. The precise regulation of the TGFβ pathways is critical, and mutations of individual molecules or even minor alterations of signalling will have a significant affect on function, that may lead to development of disease or predisposition to the development of disease. The inhibins and activins regulate aspects of the male and female reproductive system, therefore, it is not surprising that most of the diseases associated with abnormalities of the inhibin and activin genes are focused on reproductive disorders and reproductive cancers. In this review, I highlight the role of genetic variants in the development of conditions such as premature ovarian failure, pre-eclampsia, and various reproductive cancers. Given the recent advances in human genetic research, such as genome wide association studies and next generation sequencing, it is likely that inhibins and activins will be shown to play more important roles in a range of human genetic diseases in the future.
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. a.shelling@auckland.ac.nz
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Shelling
mesh_terms: D028341:Activins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D000818:Animals; D004701:Endocrine Gland Neoplasms / Q000235:genetics; D005260:Female; D005834:Genital Neoplasms, Male / Q000235:genetics; D006801:Humans; D007265:Inhibins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D008297:Male; D009154:Mutation; D011225:Pre-Eclampsia / Q000235:genetics; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D015398:Signal Transduction; D055411:TGF-beta Superfamily Proteins / Q000235:genetics; D014429:Twins, Dizygotic / Q000235:genetics
chemical_list: D055411:TGF-beta Superfamily Proteins; D028341:Activins; D007265:Inhibins