Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case

Journal of Investigative Dermatology

Volumn 130, Issue 11, 2010, Pages 2594-2601

  Debret, Romain ^a   Cenizo, Valérie ^b   Aimond, Géraldine ^a   André, Valérie ^b   Devillers, Martine ^c   Rouvet, Isabelle ^d   Mégarbané, André ^e   Damour, Odile ^a   Sommer, Pascal ^a  

^a UNIVERSITÉ LYON 1   (France)

^b BASF Beauty Care Solutions France   (France)

^c Association Francaise Contre les Myopathies   (France)

^d Centre de Biotechnologie Cellulaire   (France)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE; PROTEIN LYSINE 6 OXIDASE;

ARTICLE; BINDING SITE; CHILD; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CONTROLLED STUDY; CUTIS LAXA; DNA METHYLATION; DNA MODIFICATION; ENZYME ACTIVITY; ENZYME INHIBITION; FEMALE; FIBROBLAST; GEL MOBILITY SHIFT ASSAY; GENE ACTIVITY; GENE EXPRESSION; GENE SILENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR DOWN REGULATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD;

EID: 77957944909     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.186     Document Type: Article

References (34)

1. Behmoaras J, Slove S, Seve S et al. (2008) Differential expression of lysyl oxidases LOXL1 and LOX during growth and aging suggests specific roles in elastin and collagen fiber remodeling in rat aorta. Rejuvenation Res 11:883-9
2. Borel A, Eichenberger D, Farjanel J et al. (2001) Lysyl oxidase-like protein from bovine aorta. Isolation and maturation to an active form by bone morphogenetic protein-1. J Biol Chem 276:48944-9
3. Brooke BS, Habashi JP, Judge DP et al. (2008) Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med 358:2787-95
4. Butta N, Larrucea S, Alonso S et al. (2006) Role of transcription factor Sp1 and CpG methylation on the regulation of the human podocalyxin gene promoter. BMC Mol Biol 7:17
5. Cao YX, Jean JC, Williams MC (2000) Cytosine methylation of an Sp1 site contributes to organ-specific and cell-specific regulation of expression of the lung epithelial gene t1alpha. Biochem J 350(Pt 3):883-90
6. Chen CZ, Peng YX, Wang ZB et al. (2009) The Scar-in-a-Jar: studying potential antifibrotic compounds from the epigenetic to extracellular level in a single well. Br J Pharmacol 158:1196-209
7. Clark SJ, Harrison J, Molloy PL (1997) Sp1 binding is inhibited by (m)Cp(m)CpG methylation. Gene 195:67-71
8. Claus S, Fischer J, Megarbane H et al. (2008) A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. J Invest Dermatol 128:1442-50
9. Conn KJ, Rich CB, Jensen DE et al. (1996) Insulin-like growth factor-I regulates transcription of the elastin gene through a putative retinoblastoma control element. A role for Sp3 acting as a repressor of elastin gene transcription. J Biol Chem 271:28853-60
10. D'Alessio AC, Szyf M (2006) Epigenetic tete-a-tete: the bilateral relationship between chromatin modifications and DNA methylation. Biochem Cell Biol 84:463-76
11. Debret R, Le Naour RR, Sallenave JM et al. (2006) Elastin fragments induce IL-1beta upregulation via NF-kappaB pathway in melanoma cells. J Invest Dermatol 126:1860-8
12. Goffin J, Eisenhauer E (2002) DNA methyltransferase inhibitors-state of the art. Ann Oncol 13:1699-716
13. Goll MG, Bestor TH (2005) Eukaryotic cytosine methyltransferases. Annu Rev Biochem 74:481-514
14. Habashi JP, Judge DP, Holm TM et al. (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312:117-21
15. Hamalainen ER, Kemppainen R, Pihlajaniemi T et al. (1993) Structure of the human lysyl oxidase gene. Genomics 17:544-8
16. Hardie WD, Glasser SW, Hagood JS (2009) Emerging concepts in the pathogenesis of lung fibrosis. Am J Pathol 175:3-16
17. Hayashi K, Fong KS, Mercier F et al. (2004) Comparative immunocytochem-ical localization of lysyl oxidase (LOX) and the lysyl oxidase-like (LOXL) proteins: changes in the expression of LOXL during development and growth of mouse tissues. J Mol Histol 35:845-55
18. Hu Q, Loeys BL, Coucke PJ et al. (2006) Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet 15:3379-86
19. Jensen DE, Rich CB, Terpstra AJ et al. (1995) Transcriptional regulation of the elastin gene by insulin-like growth factor-I involves disruption of Sp1 binding. Evidence for the role of Rb in mediating Sp1 binding in aortic smooth muscle cells. J Biol Chem 270:6555-63
20. Jones PA, Takai D (2001) The role of DNA methylation in mammalian epigenetics. Science 293:1068-70
21. Kagan HM, Li W (2003) Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell. J Cell Biochem 88:660-72
22. Kagan HM, Trackman PC (1991) Properties and function of lysyl oxidase. Am J Respir Cell Mol Biol 5:206-10
23. Karnik SK, Brooke BS, Bayes-Genis A et al. (2003) A critical role for elastin signaling in vascular morphogenesis and disease. Development 130:411-23
24. Kielty CM (2006) Elastic fibres in health and disease. Expert Rev Mol Med 8:1-23
25. Kim Y, Boyd CD, Csiszar K (1995) A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase. J Biol Chem 270:7176-82
26. Kudo S (1998) Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated. Mol Cell Biol 18:5492-9
27. Lania L, Majello B, De Luca P (1997) Transcriptional regulation by the Sp family proteins. Int J Biochem Cell Biol 29:1313-23
28. Li L, He S, Sun JM et al. (2004) Gene regulation by Sp1 and Sp3. Biochem Cell Biol 82:460-71
29. Liu X, Zhao Y, Gao J et al. (2004) Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet 36:178-82
30. Noblesse E, Cenizo V, Bouez C et al. (2004) Lysyl oxidase-like and lysyl oxidase are present in the dermis and epidermis of a skin equivalent and in human skin and are associated to elastic fibers. J Invest Dermatol 122:621-30
31. Robertson KD (2005) DNA methylation and human disease. Nat Rev Genet 6:597-610
32. Thomassin L, Werneck CC, Broekelmann TJ et al. (2005) The pro-regions of lysyl oxidase and lysyl oxidase-like-1 are required for deposition onto elastic fibers. J Biol Chem 280:42848-55
33. Tsuruga E, Yajima T, Irie K (2004) Induction of fibulin-5 gene is regulated by tropoelastin gene, and correlated with tropoelastin accumulation in vitro. Int J Biochem Cell Biol 36:395-400
34. Zhu WG, Srinivasan K, Dai Z et al. (2003) Methylation of adjacent CpG sites affects Sp1/Sp3 binding and activity in the p21(Cip1) promoter. Mol Cell Biol 23:4056-65