ArticleThe Biochemical journal2007
Domains 16 and 17 of tropoelastin in elastic fibre formation.
Article in The Biochemical journal, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Emerging mechanisms of elastin transcriptional regulation.American journal of physiology. Cell physiology · 2022Review
- Elastic fiber ultrastructure and assembly.Matrix biology : journal of the International Society for Matrix Biology · 2019Review
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.The Journal of biological chemistry · 2016Article
- A novel cell adhesion region in tropoelastin mediates attachment to integrin αVβ5.The Journal of biological chemistry · 2014Article
- Directional protein secretion by the retinal pigment epithelium: roles in retinal health and the development of age-related macular degeneration.Journal of cellular and molecular medicine · 2013Review
- The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.Experimental dermatology · 2013Article
- Tropoelastin bridge region positions the cell-interactive C terminus and contributes to elastic fiber assembly.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Fibulin-5, an integrin-binding matricellular protein: its function in development and disease.Journal of cell communication and signaling · 2009Article
- Repeated domains of leptospira immunoglobulin-like proteins interact with elastin and tropoelastin.The Journal of biological chemistry · 2009Article
- Failure of pelvic organ support in mice deficient in fibulin-3.The American journal of pathology · 2009Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Naturally occurring mutations are useful in identifying domains that are important for protein function. We studied a mutation in the elastin gene, 800-3G>C, a common disease allele for SVAS (supravalvular aortic stenosis). We showed in primary skin fibroblasts from two different SVAS families that this mutation causes skipping of exons 16-17 and results in a stable mRNA. Tropoelastin lacking domains 16-17 (Delta16-17) was synthesized efficiently and secreted by transfected retinal pigment epithelium cells, but showed the deficient deposition into the extracellular matrix compared with normal as demonstrated by immunofluorescent staining and desmosine assays. Solid-phase binding assays indicated normal molecular interaction of Delta16-17 with fibrillin-1 and fibulin-5. However, self-association of Delta16-17 was diminished as shown by an elevated coacervation temperature. Moreover, negative staining electron microscopy confirmed that Delta16-17 was deficient in forming fibrillar polymers. Domain 16 has high homology with domain 30, which can form a beta-sheet structure facilitating fibre formation. Taken together, we conclude that domains 16-17 are important for self-association of tropoelastin and elastic fibre formation. This study is the first to discover that domains of elastin play an essential role in elastic fibre formation by facilitating homotypic interactions.
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Registered trials
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