Variations in LOXL1 associated with exfoliation glaucoma do not affect amine oxidase activity

Molecular Vision

Volumn 18, Issue , 2012, Pages 265-270

  Kim, Seonkwan ^a   Kim, Youngho ^a  

^a School of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINOPROPIONITRILE; AMINE OXIDASE (FLAVIN CONTAINING); CADAVERINE; COLLAGEN TYPE 1; ELASTIN; LYSYL OXIDASE LIKE 1; OLIGONUCLEOTIDE; PEROXIDASE; POLYHISTIDINE TAG; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

AFFINITY CHROMATOGRAPHY; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME SUBSTRATE; EXFOLIATION SYNDROME; EXPRESSION VECTOR; FLUOROMETRY; GENETIC VARIABILITY; HAPLOTYPE; MUTAGENESIS; PLASMID; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID OXIDOREDUCTASES; AMINO ACID SUBSTITUTION; AMINOPROPIONITRILE; BASE SEQUENCE; EXFOLIATION SYNDROME; FLUOROMETRY; GENE FREQUENCY; GENETIC VECTORS; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; ISOENZYMES; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINANT PROTEINS; SUBSTRATE SPECIFICITY;

EID: 84863012547     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Kenyon K, Modi WS, Contente S, Friedman RM. A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25. J Biol Chem 1993; 268:18435-7. [PMID: 7689553
2. Kim Y, Boyd CD, Csiszar K. A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase. J Biol Chem 1995; 270:7176-82. [PMID: 7706256]
3. Csiszar K. Lysyl oxidases: a novel multifunctional amine oxidase family. Prog Nucleic Acid Res Mol Biol 2001; 70:1-32. [PMID: 11642359]
4. Jung ST, Kim MS, Seo JY, Kim HC, Kim Y. Purification of enzymatically active human lysyl oxidase and lysyl oxidaselike protein from Escherichia coli inclusion bodies. Protein Expr Purif 2003; 31:240-6. [PMID: 14550642]
5. Kim YM, Kim EC, Kim Y. The human lysyl oxidase-like 2 protein functions as an amine oxidase toward collagen and elastin. Mol Biol Rep 2011; 38:145-9. [PMID: 20306300]
6. Lee JE, Kim Y. A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity. J Biol Chem 2006; 281:37282-90. [PMID: 17018530]
7. Kim MS, Kim SS, Jung ST, Park JY, Yoo HW, Ko J, Csiszar K, Choi SY, Kim Y. Expression and purification of enzymatically active forms of the human lysyl oxidase-like protein 4. J Biol Chem 2003; 278:52071-4. [PMID:14551188]
8. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet 2004; 36:178-82. [PMID: 14745449]
9. Ritch R. Exfoliation syndrome and occludable angles. Trans Am Ophthalmol Soc 1994; 92:845-944. [PMID: 7886885]
10. Schlötzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 2006; 141:921-37. [PMID: 16678509]
11. Sharma S, Chataway T, Burdon KP, Jonavicius L, Klebe S, Hewitt AW, Mills RA, Craig JE. Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry. Exp Eye Res 2009; 89:479-85. [PMID: 19442659]
12. Creasey R, Sharma S, Gibson CT, Craig JE, Ebner A, Becker T, Hinterdorfer P, Voelcker NH. Atomic force microscopybased antibody recognition imaging of proteins in the pathological deposits in Pseudoexfoliation Syndrome. Ultramicroscopy 2011; 111:1055-61. [PMID: 21740868]
13. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007; 317:1397-400. [PMID: 17690259]
14. Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lämmer R, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2008; 49:1459-63. [PMID: 18385063]
15. Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008; 17:710-6. [PMID: 18037624]
16. Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. LOXL1 mutations are associated with exfoliation syndrome in patients from the Midwestern United States. Am J Ophthalmol 2007; 144:974-75. [PMID: 18036875]
17. Lemmelä S, Forsman E, Onkamo P, Nurmi H, Laivuori H, Kivelä T, Puska P, Heger M, Eriksson A, Forsius H, Järvelä I. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet 2009; 54:289-97. [PMID: 19343041]
18. Palamakumbura AH, Trackman PC. A fluorometric assay for detection of lysyl oxidase enzyme activity in biological samples. Anal Biochem 2002; 300:245-51. [PMID: 11779117]
19. Borel A, Eichenberger D, Farjanel J, Kessler E, Gleyzal C, Hulmes DJ, Sommer P, Font B. Lysyl oxidase-like protein from bovine aorta. Isolation and maturation to an active form by bone morphogenetic protein-1. J Biol Chem 2001; 276:48944-9. [PMID: 11684696]
20. Williams SE, Whigham BT, Liu Y, Carmichael TR, Qin X, Schmidt S, Ramsay M, Hauser MA, Allingham RR. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis 2010; 16:705-12. [PMID: 20431720]
21. Mori K, Imai K, Matsuda A, Ikeda Y, Naruse S, Hitora- Takeshita H, Nakano M, Taniguchi T, Omi N, Tashiro K, Kinoshita S. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis 2008; 14:1037-40. [PMID: 18552979]
22. Chen L, Jia L, Wang N, Tang G, Zhang C, Fan S, Liu W, Meng H, Zeng W, Liu N, Wang H, Jia H. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population. Mol Vis 2009; 15:2349-57. [PMID: 19936304]
23. Ramprasad VL, George R, Soumittra N, Sharmila F, Vijaya L, Kumaramanickavel G. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol Vis 2008; 14:318-22. [PMID: 18334947]
24. Lee KY, Ho SL, Thalamuthu A, Venkatraman A, Venkataraman D, Pek DC, Aung T, Vithana EN. Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. Mol Vis 2009; 15:1120-6. [PMID: 19503743]
25. Fan BJ, Pasquale L, Grosskreutz CL, Rhee D, Chen T, DeAngelis MM, Kim I, del Bono E, Miller JW, Li T, Haines JL, Wiggs JL. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinicbased population with broad ethnic diversity. BMC Med Genet 2008; 9:5. [PMID: 18254956]
26. Jaimes M, Rivera-Parra D, Miranda-Duarte A, Valdés G, Carlos Zenteno J. Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population. Ophthalmic Genet 2012; 33:12-7. [PMID: 21970694]
27. Panchenko MV, Stetler-Stevenson WG, Trubetskoy OV, Gacheru SN, Kagan HM. Metalloproteinase activity secreted by fibrogenic cells in the processing of prolysyl oxidase. Potential role of procollagen C-proteinase. J Biol Chem 1996; 271:7113-9. [PMID: 8636146]
28. Thomassin L, Werneck CC, Broekelmann TJ, Gleyzal C, Hornstra IK, Mecham RP, Sommer P. The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. J Biol Chem 2005; 280:42848-55. [PMID: 16251195]
29. Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M, Richardson JA, Olson EN. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Nature 2002; 415:168-71. [PMID: 11805834]
30. Nakamura T, Lozano PR, Ikeda Y, Iwanaga Y, Hinek A, Minamisawa S, Cheng CF, Kobuke K, Dalton N, Takada Y, Tashiro K, Ross J Jr, Honjo T, Chien KR. Fibulin-5/DANCE is essential for elastogenesis in vivo. Nature 2002; 415:171-5. [PMID: 11805835]