Fibrillins: from biogenesis of microfibrils to signaling functions.
Fibrillins are large proteins that form extracellular microfibril suprastructures ubiquitously found in elastic and nonelastic tissues. Mutations in fibrillin-1 and -2 lead to a number of heritable connective tissue disorders generally termed fibrillinopathies. Clinical symptoms in fibrillinopathies manifest in the skeletal, ocular, and cardiovascular systems and highlight the importance of fibrillins in development and homeostasis of tissues and organs, including blood vessels, bone, and eye. Microfibrils appear to have dual roles in (1) conferring mechanical stability and limited elasticity to tissues, and (2) modulating the activity of growth factors of the transforming growth factor beta (TGF-beta) superfamily. This chapter's focus is on the biogenesis of microfibrils, developmental expression patterns of fibrillins, signaling functions of microfibrils, and mouse models deficient in fibrillins.
Hubmacher
Dirk
D
Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University Montreal, Quebec, H3A 2B2, Canada.
Tiedemann
Kerstin
K
Reinhardt
Dieter P
DP
D000818:Animals; D004195:Disease Models, Animal; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D020894:Microfibrils / Q000235:genetics / Q000378:metabolism* / Q000502:physiology; D008840:Microfilament Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology*; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605724:Fbn1 protein, mouse