title: EMILIN-1 deficiency induces elastogenesis and vascular cell defects.
abstract: EMILINs constitute a family of genes of the extracellular matrix with high structural similarity. Four genes have been identified so far in human and mouse. To gain insight into the function of this gene family, EMILIN-1 has been inactivated in the mouse by gene targeting. The homozygous animals were fertile and did not show obvious abnormalities. However, histological and ultrastructural examination revealed alterations of elastic fibers in aorta and skin. Formation of elastic fibers by mutant embryonic fibroblasts in culture was also abnormal. Additional alterations were observed in cell morphology and anchorage of endothelial and smooth muscle cells to elastic lamellae. Considering that EMILIN-1 is adhesive for cells and that the protein binds to elastin and fibulin-5, EMILIN-1 may regulate elastogenesis and vascular cell maintenance by stabilizing molecular interactions between elastic fiber components and by endowing elastic fibers with specific cell adhesion properties.
authors.affiliation: Department of Histology, Microbiology and Medical Biotechnologies, University of Padua, Viale G. Colombo 3, 35121 Padua, Italy.
authors.forename: Miriam
authors.initials: M
authors.lastname: Zanetti
authors.forename: Paola
authors.initials: P
authors.lastname: Braghetta
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Isabella
authors.initials: I
authors.lastname: Mura
authors.forename: Roberto
authors.initials: R
authors.lastname: Doliana
authors.forename: Alfonso
authors.initials: A
authors.lastname: Colombatti
authors.forename: Dino
authors.initials: D
authors.lastname: Volpin
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonaldo
authors.forename: Giorgio M
authors.initials: GM
authors.lastname: Bressan
mesh_terms: D000818:Animals; D001808:Blood Vessels / Q000002:abnormalities* / Q000473:pathology; D015815:Cell Adhesion Molecules / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D002478:Cells, Cultured; D004547:Elastic Tissue / Q000002:abnormalities* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008854:Microscopy, Electron
chemical_list: D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D008562:Membrane Glycoproteins; C030340:elastin microfibril interface located protein