Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina

British Journal of Ophthalmology

Volumn 97, Issue 9, 2013, Pages 1208-1212

  Chandra, Aman ^a,b   Jones, Megan ^a   Cottrill, Phillippa ^a   Eastlake, Karen ^a   Limb, G Astrid ^a   Charteris, David G ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; MESSENGER RNA; PROTEIN ADAMTSL4; UNCLASSIFIED DRUG;

ADAMTSL4 GENE; ARTICLE; CHOROID; CILIARY BODY; GENE EXPRESSION; HUMAN; HUMAN TISSUE; IRIS; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA; TISSUE DISTRIBUTION;

CHOROID; GENETICS; LENS AND ZONULES; RETINA;

BLOTTING, WESTERN; CHOROID; GENE EXPRESSION PROFILING; HUMANS; IRIS; RETINA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; THROMBOSPONDINS;

EID: 84882246797     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2013-303353     Document Type: Article

References (25)

1. Buchner DA, Meisler MH. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene 2003;307:23-30.
2. Iruela-Arispe ML, Lombardo M, Krutzsch HC, et al. Inhibition of angiogenesis by thrombospondin-1 is mediated by 2 independent regions within the type 1 repeats. Circulation 1999;100:1423-31.
3. Apte SS. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. J Biol Chem 2009;284:31493-7.
4. Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet 2011;20:R163-7.
5. Hubmacher D, Apte SS. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Cell Mol Life Sci 2011;68:3137-48.
6. Chandra A, D'Cruz L, Aragon-Martin JA, et al. Focus on molecules: ADAMTSL4. Exp Eye Res 2012;104:95-6.
7. Ahram D, Sato TS, Kohilan A, et al. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet 2009;84:274-8.
8. Chandra A, Aragon-Martin JA, Hughes K, et al. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci 2012;53:4889-96.
9. Abramoff MD, Magalhaes PJ, Ram SJ. Image processing with ImageJ. Biophotonics Int 2004;11:36-42.
10. Gabriel LA, Wang LW, Bader H, et al. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Invest Ophthalmol Vis Sci 2012;53:461-9.
11. Aragon-Martin JA, Ahnood D, Charteris DG, et al. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat 2010;31:E1622-31.
12. Judge DP, Biery NJ, Keene DR, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 2004;114:172-81.
13. Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007;81:454-66.
14. Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664-71.
15. Robertson I, Jensen S, Handford P. TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs. Biochem J 2011;433:263-76.
16. Faivre L, Megarbane A, Alswaid A, et al. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Hum Genet 2002;110:366-70.
17. Sengle G, Tsutsui K, Keene DR, et al. Microenvironmental regulation by fibrillin-1. PLoS Genet 2012;8:e1002425.
18. Tsutsui K, Manabe R, Yamada T, et al. ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation. J Biol Chem 2010;285:4870-82.
19. Saito M, Kurokawa M, Oda M, et al. ADAMTSL6beta protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly. J Biol Chem 2011;286:38602-13.
20. Wheatley HM, Traboulsi EI, Flowers BE, et al. Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol 1995;113:103-9.
21. Pena JD, Mello PA, Hernandez MR. Synthesis of elastic microfibrillar components fibrillin-1 and fibrillin-2 by human optic nerve head astrocytes in situ and in vitro. Exp Eye Res 2000;70:589-601.
22. Halfter W, Dong S, Dong A, et al. Origin and turnover of ECM proteins from the inner limiting membrane and vitreous body. Eye (Lond) 2008;22:1207-13.
23. Fujiwara T, Imamura Y, Margolis R, et al. Enhanced depth imaging optical coherence tomography of the choroid in highly myopic eyes. Am J Ophthalmol 2009;148:445-50.
24. Wittstrom E, Ponjavic V, Bondeson ML, et al. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. Ophthalmic Genet 2011;32:217-27.
25. Chandra A, Aragon-Martin JA, Sharif S, et al. Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. Ophthalmic Genet 2013;34:78-82.