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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene Review

ELN  -  elastin

Homo sapiens

Synonyms: Elastin, SVAS, Tropoelastin, WBS, WS
 
 
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Disease relevance of ELN

 

Psychiatry related information on ELN

  • Analysis of the cognitive phenotype based on analyses of the mental processes underlying overt behavior demonstrates major differences between normal and WS subjects although for some areas, such as face processing, WS subjects can achieve near normal scores [6].
  • Role of elastin polymorphisms in panic disorder [7].
  • The results of this analysis suggest that several factors (age, alcohol consumption, non-PI MM phenotype) may be associated with decreased resynthesis of lung elastin [8].
  • Continuous reaction times (CRTs) and subjective assessment of pain intensity (PVAS) and sedation (SVAS) were compared in 14 cancer patients during chronic oral opioid therapy (daily doses of morphine: 130-400 mg) and subsequent stable epidural opioid therapy (daily doses of morphine: 32-240 mg) [9].
  • The melting curve for the elastin-turn minidomain showed cooperative behavior, as measured by the increase in CD-amplitude at 222 nm [10].
 

High impact information on ELN

 

Chemical compound and disease context of ELN

 

Biological context of ELN

  • WS is a developmental disorder caused by a deletion at chromosome 7q11.23 that includes the elastin locus (ELN) [20].
  • Analysis of the elastin gene has demonstrated that hydrophobic and cross-linking domains are encoded in separate exons and that there is significant alternative splicing, resulting in multiple isoforms of tropoelastin [21].
  • The elastin gene promoter contains many potential binding sites for various modulating factors indicative of a complex pattern of transcriptional regulation [21].
  • The amino acid residues detected in insoluble elastin following hydrolysis with porcine pancreatic elastase and human neutrophil elastase were predominantly Gly and Ala, with lesser amounts of Val, Phe, Ile, and Leu [22].
  • In summary, these data indicate that ageing is associated with increased expression of fibrillin and elastin during acute wound healing and concomitant restoration of the papillary dermal architecture with an improved quality of scarring [23].
 

Anatomical context of ELN

 

Associations of ELN with chemical compounds

  • Fibrillin is a 347 kDa glycoprotein that is a major constituent of the elastin-associated microfibrils [27].
  • Elastin is found throughout the vertebrate kingdom and possesses an unusual chemical composition rich in glycine, proline, and hydrophobic amino acids, consonant with its characteristic physical properties [21].
  • The importance of the lysine side chains was corroborated by the finding that the fibrillin-2 construct did not bind to mature elastin, whose lysine side chains have been modified to form cross-links [28].
  • For both the serine and matrix metalloproteinases, catalysis of peptide bond cleavage in insoluble elastin was characterized by temperature effects and water requirements typical of common enzyme-catalyzed reactions, even those involving soluble substrates [22].
  • Elastin contains a number of cross-linking amino acid residues such as desmosine and isodesmosine which are primarily hydrophobic in character, but have a positively charged pyridinium ring [29].
 

Physical interactions of ELN

 

Enzymatic interactions of ELN

  • Tropoelastin is encoded by a single human gene that spans 36 exons and is oxidized in vivo by mammalian lysyl oxidase at the epsilon amino group of available lysines to give the adipic semialdehyde, which then facilitates covalent cross-link formation in an enzyme-free process involving tropoelastin association [34].
 

Co-localisations of ELN

 

Regulatory relationships of ELN

 

Other interactions of ELN

  • These findings support the hypothesis that fibulin-5 is necessary for elastic fiber formation by facilitating the deposition of elastin onto a microfibrillar scaffold via direct molecular interactions [3].
  • In addition, no evidence of an interaction was observed between MAGP-1 and a tropoelastin construct consisting of domains 17-27 that brackets the kallikrein cleavage site, suggesting a complex mechanism of interaction between the two molecules [30].
  • Fibroblast collagenase showed no activity toward elastin [22].
  • These cross-linking residues are formed by the action of lysyl oxidase upon Lys residues in tropoelastin, a precursor of elastin [29].
  • Our results suggest that the abnormal production of tropoelastin and fibrillin by heat in human skin and that their degradation by various MMP, such as MMP-12, may contribute to the accumulation of elastotic material in photoaged skin [42].
 

Analytical, diagnostic and therapeutic context of ELN

References

  1. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Frangiskakis, J.M., Ewart, A.K., Morris, C.A., Mervis, C.B., Bertrand, J., Robinson, B.F., Klein, B.P., Ensing, G.J., Everett, L.A., Green, E.D., Pröschel, C., Gutowski, N.J., Noble, M., Atkinson, D.L., Odelberg, S.J., Keating, M.T. Cell (1996) [Pubmed]
  2. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Osborne, L.R., Martindale, D., Scherer, S.W., Shi, X.M., Huizenga, J., Heng, H.H., Costa, T., Pober, B., Lew, L., Brinkman, J., Rommens, J., Koop, B., Tsui, L.C. Genomics (1996) [Pubmed]
  3. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hu, Q., Loeys, B.L., Coucke, P.J., De Paepe, A., Mecham, R.P., Choi, J., Davis, E.C., Urban, Z. Hum. Mol. Genet. (2006) [Pubmed]
  4. Elastin-derived peptides upregulate matrix metalloproteinase-2-mediated melanoma cell invasion through elastin-binding protein. Ntayi, C., Labrousse, A.L., Debret, R., Birembaut, P., Bellon, G., Antonicelli, F., Hornebeck, W., Bernard, P. J. Invest. Dermatol. (2004) [Pubmed]
  5. Ultrastructural immunocytochemical analysis of elastin in the human lamina cribrosa. Changes in elastic fibers in primary open-angle glaucoma. Hernandez, M.R. Invest. Ophthalmol. Vis. Sci. (1992) [Pubmed]
  6. Williams syndrome: from genotype through to the cognitive phenotype. Donnai, D., Karmiloff-Smith, A. Am. J. Med. Genet. (2000) [Pubmed]
  7. Role of elastin polymorphisms in panic disorder. Philibert, R.A., Nelson, J.J., Bedell, B., Goedken, R., Sandhu, H.K., Noyes, R., Crowe, R.R. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2003) [Pubmed]
  8. Relation of serum elastin peptide concentration to age, FEV1, smoking habits, alcohol consumption, and protease inhibitor phenotype: an epidemiological study in working men. Frette, C., Wei, S.M., Neukirch, F., Sesboüé, R., Martin, J.P., Jacob, M.P., Kauffmann, F. Thorax (1992) [Pubmed]
  9. Pain, sedation and reaction time during long-term treatment of cancer patients with oral and epidural opioids. Sjøgren, P., Banning, A. Pain (1989) [Pubmed]
  10. An engineered minidomain containing an elastin turn exhibits a reversible temperature-induced IgG binding. Reiersen, H., Rees, A.R. Biochemistry (1999) [Pubmed]
  11. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Pereira, L., Andrikopoulos, K., Tian, J., Lee, S.Y., Keene, D.R., Ono, R., Reinhardt, D.P., Sakai, L.Y., Biery, N.J., Bunton, T., Dietz, H.C., Ramirez, F. Nat. Genet. (1997) [Pubmed]
  12. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., Keating, M.T. Nat. Genet. (1993) [Pubmed]
  13. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Curran, M.E., Atkinson, D.L., Ewart, A.K., Morris, C.A., Leppert, M.F., Keating, M.T. Cell (1993) [Pubmed]
  14. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. Byers, P.H., Siegel, R.C., Holbrook, K.A., Narayanan, A.S., Bornstein, P., Hall, J.G. N. Engl. J. Med. (1980) [Pubmed]
  15. A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Kelleher, C.M., Silverman, E.K., Broekelmann, T., Litonjua, A.A., Hernandez, M., Sylvia, J.S., Stoler, J., Reilly, J.J., Chapman, H.A., Speizer, F.E., Weiss, S.T., Mecham, R.P., Raby, B.A. Am. J. Respir. Cell Mol. Biol. (2005) [Pubmed]
  16. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Godfrey, M., Vandemark, N., Wang, M., Velinov, M., Wargowski, D., Tsipouras, P., Han, J., Becker, J., Robertson, W., Droste, S. Am. J. Hum. Genet. (1993) [Pubmed]
  17. Characterization of proteinase-3 (PR-3), a neutrophil serine proteinase. Structural and functional properties. Rao, N.V., Wehner, N.G., Marshall, B.C., Gray, W.R., Gray, B.H., Hoidal, J.R. J. Biol. Chem. (1991) [Pubmed]
  18. Degradation of elastin by a cysteine proteinase from Staphylococcus aureus. Potempa, J., Dubin, A., Korzus, G., Travis, J. J. Biol. Chem. (1988) [Pubmed]
  19. Lysozyme binds to elastin and protects elastin from elastase-mediated degradation. Park, P.W., Biedermann, K., Mecham, L., Bissett, D.L., Mecham, R.P. J. Invest. Dermatol. (1996) [Pubmed]
  20. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Pérez Jurado, L.A., Li, X., Francke, U. Cytogenet. Cell Genet. (1995) [Pubmed]
  21. Extracellular matrix 4: the elastic fiber. Rosenbloom, J., Abrams, W.R., Mecham, R. FASEB J. (1993) [Pubmed]
  22. Elastin degradation by matrix metalloproteinases. Cleavage site specificity and mechanisms of elastolysis. Mecham, R.P., Broekelmann, T.J., Fliszar, C.J., Shapiro, S.D., Welgus, H.G., Senior, R.M. J. Biol. Chem. (1997) [Pubmed]
  23. Age-related changes in the temporal and spatial distributions of fibrillin and elastin mRNAs and proteins in acute cutaneous wounds of healthy humans. Ashcroft, G.S., Kielty, C.M., Horan, M.A., Ferguson, M.W. J. Pathol. (1997) [Pubmed]
  24. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. Hu, Q., Reymond, J.L., Pinel, N., Zabot, M.T., Urban, Z. J. Invest. Dermatol. (2006) [Pubmed]
  25. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. Zhang, H., Apfelroth, S.D., Hu, W., Davis, E.C., Sanguineti, C., Bonadio, J., Mecham, R.P., Ramirez, F. J. Cell Biol. (1994) [Pubmed]
  26. Modulation of elastase binding to elastin by human alveolar macrophage-derived lipids. Fujita, J., Sköld, C.M., Daughton, D.M., Ertl, R.F., Takahara, J., Rennard, S.I. Am. J. Respir. Crit. Care Med. (1999) [Pubmed]
  27. Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts. Kilpatrick, M.W., Phylactou, L.A., Godfrey, M., Wu, C.H., Wu, G.Y., Tsipouras, P. Hum. Mol. Genet. (1996) [Pubmed]
  28. Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly. Trask, T.M., Trask, B.C., Ritty, T.M., Abrams, W.R., Rosenbloom, J., Mecham, R.P. J. Biol. Chem. (2000) [Pubmed]
  29. Reactivity of human leukocyte elastase and porcine pancreatic elastase toward peptide 4-nitroanilides containing model desmosine residues. Evidence that human leukocyte elastase is selective for cross-linked regions of elastin. Yasutake, A., Powers, J.C. Biochemistry (1981) [Pubmed]
  30. Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1. Jensen, S.A., Reinhardt, D.P., Gibson, M.A., Weiss, A.S. J. Biol. Chem. (2001) [Pubmed]
  31. Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1. Reinboth, B., Hanssen, E., Cleary, E.G., Gibson, M.A. J. Biol. Chem. (2002) [Pubmed]
  32. Integrin alpha v beta 3 binds a unique non-RGD site near the C-terminus of human tropoelastin. Rodgers, U.R., Weiss, A.S. Biochimie (2004) [Pubmed]
  33. Matrix-directed regulation of pericellular proteolysis and tumor progression. Hornebeck, W., Emonard, H., Monboisse, J.C., Bellon, G. Semin. Cancer Biol. (2002) [Pubmed]
  34. A model two-component system for studying the architecture of elastin assembly in vitro. Mithieux, S.M., Wise, S.G., Raftery, M.J., Starcher, B., Weiss, A.S. J. Struct. Biol. (2005) [Pubmed]
  35. The upregulation of lysyl oxidase in oral submucous fibrosis and squamous cell carcinoma. Trivedy, C., Warnakulasuriya, K.A., Hazarey, V.K., Tavassoli, M., Sommer, P., Johnson, N.W. J. Oral Pathol. Med. (1999) [Pubmed]
  36. Increased deposition of fibulin-2 in solar elastosis and its colocalization with elastic fibres. Hunzelmann, N., Nischt, R., Brenneisen, P., Eickert, A., Krieg, T. Br. J. Dermatol. (2001) [Pubmed]
  37. Neutrophil elastase-initiated EGFR/MEK/ERK signaling counteracts stabilizing effect of autocrine TGF-beta on tropoelastin mRNA in lung fibroblasts. DiCamillo, S.J., Yang, S., Panchenko, M.V., Toselli, P.A., Naggar, E.F., Rich, C.B., Stone, P.J., Nugent, M.A., Panchenko, M.P. Am. J. Physiol. Lung Cell Mol. Physiol. (2006) [Pubmed]
  38. Induction of fibulin-5 gene is regulated by tropoelastin gene, and correlated with tropoelastin accumulation in vitro. Tsuruga, E., Yajima, T., Irie, K. Int. J. Biochem. Cell Biol. (2004) [Pubmed]
  39. Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen. Giampuzzi, M., Botti, G., Di Duca, M., Arata, L., Ghiggeri, G., Gusmano, R., Ravazzolo, R., Di Donato, A. J. Biol. Chem. (2000) [Pubmed]
  40. Microfibril-associated MAGP-2 Stimulates Elastic Fiber Assembly. Lemaire, R., Bayle, J., Mecham, R.P., Lafyatis, R. J. Biol. Chem. (2007) [Pubmed]
  41. Cloning and characterization of a unique elastolytic metalloproteinase produced by human alveolar macrophages. Shapiro, S.D., Kobayashi, D.K., Ley, T.J. J. Biol. Chem. (1993) [Pubmed]
  42. Heat modulation of tropoelastin, fibrillin-1, and matrix metalloproteinase-12 in human skin in vivo. Chen, Z., Seo, J.Y., Kim, Y.K., Lee, S.R., Kim, K.H., Cho, K.H., Eun, H.C., Chung, J.H. J. Invest. Dermatol. (2005) [Pubmed]
  43. Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Gibson, M.A., Hatzinikolas, G., Davis, E.C., Baker, E., Sutherland, G.R., Mecham, R.P. Mol. Cell. Biol. (1995) [Pubmed]
 
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