Expression Profiling of ADAMTS (L) Superfamily of Genes in Various Human Eye Tissues
-
Fatemeh Suri
,
Abdullah Biginaloo
,
Mehdi Ghadimi
,
Hossein Dehghan Banadaki
,
Seyyed Hassan Paylakhi
,
Mozhgan Rezaei Kanavi
Abstract
Background: A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) is a superfamily of extracellular proteinases found in both mammals and invertebrates. Although there is some evidence about the role of ADAMTSs in ocular diseases such as glaucoma and ectopia lentis, but there is little information about the expression patterns of ADAMTS-1-20 and ADAMTS-like (ADAMTSL-1-6 and PAPLN) genes in human ocular tissues. This study aimed to evaluate the expression profiling of ADAMTS(L) superfamily of genes in different ocular tissues based on age.
Methods: In 2019, nine human donated eye globes were provided from the Central Eye Bank of Iran, and were divided into three different groups based on age (under 3 yr old, between 20 to 50 and upper 50 yr old). To assess expression patterns of ADAMTS(L) genes in different ocular tissues including trabecular meshwork, lens, retinal pigment epithelium, macula, and optic nerve in the three age groups, total RNA was extracted from the tissues and reverse transcription polymerase chain reaction followed by Real-time PCR was performed.
Results: We demonstrated not only each member of ADAMTS(L) superfamily shows different expression pattern between the five investigated ocular tissues, but also some members have differential expressions among the investigated age groups in same tissues.
Conclusion: Differential expression of ADAMTS(L) genes in ocular tissues from different age groups could explain some functional aspects of the tissues and also may be used as prognostic and diagnostic biomarkers for ocular diseases and pathologies. Further studies are required to explore their functional roles associated with ocular pathologies.ADAMTS Proteins
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2. Young S (2005). Ocular involvement in connective tissue disorders. Curr Allergy Asthma Rep, 5:323-6.
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4. Hubmacher D, Apte SS (2015). ADAMTS proteins as modulators of microfibril formation and function. Matrix Biol, 47:34-43.
5. Kuno K, Kanada N, Nakashima E, et al (1997). Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J Biol Chem, 272(1):556-62.
6. Porter S, Clark IM, Kevorkian L, et al (2005). The ADAMTS metalloproteinases. Biochem J, 386(Pt 1):15-27.
7. Kutz WE, Wang LW, Bader HL, et al (2011). ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem, 286(19):17156-67.
8. Kelwick R, Desanlis I, Wheeler GN, et al (2015). The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. Genome Biol, 16(1):113.
9. Morales J, Al-Sharif L, Khalil DS, et al (2009). Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet, 85(5):558-68.
10. Colige A, Vandenberghe I, Thiry M, et al (2002). Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. J Biol Chem, 277(8):5756-66.
11. Fernandes RJ, Hirohata S, Engle JM, et al (2001). Procollagen ii amino propeptide processing by adamts-3 insights on dermatosparaxis. J Biol Chemy, 276(34):31502-9.
12. Colige A, Sieron AL, Li S-W, et al (1999). Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Ame J Hum Genet, 65(2):308-17.
13. Colige A, Nuytinck L, Hausser I, et al (2004). Novel types of mutation responsible for the dermatosparactic type of Ehlers–Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol, 123(4):656-63.
14. Mishan MA, Kanavi MR, Shahpasand K, et al (2019). Pathogenic tau protein species: Promising therapeutic targets for ocular neurodegenerative diseases. J Ophthalmic Vis Res, 14(4):491-505.
15. Cudic M, Burstein GD, Fields GB, et al (2009). Analysis of Flavonoid‐Based Pharmacophores that Inhibit Aggrecanases (ADAMTS‐4 and ADAMTS‐5) and Matrix Metalloproteinases Through the Use of Topologically Constrained Peptide Substrates. Chem Biol Drug Des, 74(5):473-82.
16. Malfait A-M, Liu R-Q, Ijiri K, et al (2002). Inhibition of ADAM-TS4 and ADAM-TS5 prevents aggrecan degradation in osteoarthritic cartilage. J Biol Chem, 277(25):22201-8.
17. Keller KE, Bradley JM, Acott TS (2009). Differential effects of ADAMTS-1, -4, and -5 in the trabecular meshwork. Invest Ophthalmol Vis Sci, 50(12):5769-77.
18. Basile DP, Fredrich K, Chelladurai B, et al (2008). Renal ischemia reperfusion inhibits VEGF expression and induces ADAMTS-1, a novel VEGF inhibitor. Am J Physiol-Renal Physiol, 294(4):F928-36.
19. Obika M, Ogawa H, Takahashi K, et al (2012). Tumor growth inhibitory effect of ADAMTS 1 is accompanied by the inhibition of tumor angiogenesis. Cancer Sci, 103(10):1889-97.
20. Dunn JR, Reed J, Du Plessis D, et al (2006). Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours. Br J Cancer, 94(8):1186-93.
21. 221. Koo B-H, Coe DM, Dixon LJ, et al (2010). ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells. Am J Pathol, 176(3):1494-504.
22. Majka S, McGuire PG, Das A (2002). Regulation of matrix metalloproteinase expression by tumor necrosis factor in a murine model of retinal neovascularization. Invest Ophthalmol Vis Sci, 43(1):260-6.
23. Jin M, He S, Wörpel V, Ryan SJ, Hinton DR (2000). Promotion of adhesion and migration of RPE cells to provisional extracellular matrices by TNF-alpha. Invest Ophthalmol Vis Sci, 41(13):4324-32.
24. Bevitt DJ, Mohamed J, Catterall JB, et al (2003). Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha. Biochim Biophys Acta, 1626(1-3):83-91.
25. Peluso I, Conte I, Testa F, et al (2013). The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis, 8:16.
26. Wei J, Liu C-j, Li Z (2014). ADAMTS-18: a metalloproteinase with multiple functions. Fronti Biosci (Landmark eEd), 19(8):1456-67.
27. Aldahmesh MA, Khan AO, Mohamed JY, et al (2011). Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet, 48(9):597-601.
28. Cao M, Ouyang J, Guo J, et al (2018). Metalloproteinase Adamts16 is required for proper closure of the optic fissure. Invest Ophthalmol Vis Sci, 59(3):1167-1177.
29. Sengle G, Tsutsui K, Keene DR, et al (2012). Microenvironmental regulation by fibrillin-1. PLoS Genet, 8(1):e1002425.
30. Cain SA, Mularczyk EJ, Singh M, et al (2016). ADAMTS-10 and-6 differentially regulate cell-cell junctions and focal adhesions. Sci Rep, 6:35956.
31. Dagoneau N, Benoist-Lasselin C, Huber C, et al (2004). ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet, 75(5):801-6.
32. Ahonen SJ, Kaukonen M, Nussdorfer FD, et al (2014). A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma. PloS One, 9(11):e111941.
33. Somerville RP, Jungers KA, Apte SS (2004). Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. J Biol Chem, 279(49):51208-17.
34. Hubmacher D, Apte SS (2011). Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Cell Mol Life Sci, 68(19):3137-48.
35. Hubmacher D, Schneider M, Berardinelli SJ, Takeuchi H, Willard B, Reinhardt DP, Haltiwanger RS, Apte SS (2017). Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. Sci Rep, 7:41871.
2. Young S (2005). Ocular involvement in connective tissue disorders. Curr Allergy Asthma Rep, 5:323-6.
3. Mead TJ, Apte SS (2018). ADAMTS proteins in human disorders. Matrix Biol, 71:225-239.
4. Hubmacher D, Apte SS (2015). ADAMTS proteins as modulators of microfibril formation and function. Matrix Biol, 47:34-43.
5. Kuno K, Kanada N, Nakashima E, et al (1997). Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J Biol Chem, 272(1):556-62.
6. Porter S, Clark IM, Kevorkian L, et al (2005). The ADAMTS metalloproteinases. Biochem J, 386(Pt 1):15-27.
7. Kutz WE, Wang LW, Bader HL, et al (2011). ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem, 286(19):17156-67.
8. Kelwick R, Desanlis I, Wheeler GN, et al (2015). The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. Genome Biol, 16(1):113.
9. Morales J, Al-Sharif L, Khalil DS, et al (2009). Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet, 85(5):558-68.
10. Colige A, Vandenberghe I, Thiry M, et al (2002). Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. J Biol Chem, 277(8):5756-66.
11. Fernandes RJ, Hirohata S, Engle JM, et al (2001). Procollagen ii amino propeptide processing by adamts-3 insights on dermatosparaxis. J Biol Chemy, 276(34):31502-9.
12. Colige A, Sieron AL, Li S-W, et al (1999). Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Ame J Hum Genet, 65(2):308-17.
13. Colige A, Nuytinck L, Hausser I, et al (2004). Novel types of mutation responsible for the dermatosparactic type of Ehlers–Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol, 123(4):656-63.
14. Mishan MA, Kanavi MR, Shahpasand K, et al (2019). Pathogenic tau protein species: Promising therapeutic targets for ocular neurodegenerative diseases. J Ophthalmic Vis Res, 14(4):491-505.
15. Cudic M, Burstein GD, Fields GB, et al (2009). Analysis of Flavonoid‐Based Pharmacophores that Inhibit Aggrecanases (ADAMTS‐4 and ADAMTS‐5) and Matrix Metalloproteinases Through the Use of Topologically Constrained Peptide Substrates. Chem Biol Drug Des, 74(5):473-82.
16. Malfait A-M, Liu R-Q, Ijiri K, et al (2002). Inhibition of ADAM-TS4 and ADAM-TS5 prevents aggrecan degradation in osteoarthritic cartilage. J Biol Chem, 277(25):22201-8.
17. Keller KE, Bradley JM, Acott TS (2009). Differential effects of ADAMTS-1, -4, and -5 in the trabecular meshwork. Invest Ophthalmol Vis Sci, 50(12):5769-77.
18. Basile DP, Fredrich K, Chelladurai B, et al (2008). Renal ischemia reperfusion inhibits VEGF expression and induces ADAMTS-1, a novel VEGF inhibitor. Am J Physiol-Renal Physiol, 294(4):F928-36.
19. Obika M, Ogawa H, Takahashi K, et al (2012). Tumor growth inhibitory effect of ADAMTS 1 is accompanied by the inhibition of tumor angiogenesis. Cancer Sci, 103(10):1889-97.
20. Dunn JR, Reed J, Du Plessis D, et al (2006). Expression of ADAMTS-8, a secreted protease with antiangiogenic properties, is downregulated in brain tumours. Br J Cancer, 94(8):1186-93.
21. 221. Koo B-H, Coe DM, Dixon LJ, et al (2010). ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells. Am J Pathol, 176(3):1494-504.
22. Majka S, McGuire PG, Das A (2002). Regulation of matrix metalloproteinase expression by tumor necrosis factor in a murine model of retinal neovascularization. Invest Ophthalmol Vis Sci, 43(1):260-6.
23. Jin M, He S, Wörpel V, Ryan SJ, Hinton DR (2000). Promotion of adhesion and migration of RPE cells to provisional extracellular matrices by TNF-alpha. Invest Ophthalmol Vis Sci, 41(13):4324-32.
24. Bevitt DJ, Mohamed J, Catterall JB, et al (2003). Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha. Biochim Biophys Acta, 1626(1-3):83-91.
25. Peluso I, Conte I, Testa F, et al (2013). The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis, 8:16.
26. Wei J, Liu C-j, Li Z (2014). ADAMTS-18: a metalloproteinase with multiple functions. Fronti Biosci (Landmark eEd), 19(8):1456-67.
27. Aldahmesh MA, Khan AO, Mohamed JY, et al (2011). Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet, 48(9):597-601.
28. Cao M, Ouyang J, Guo J, et al (2018). Metalloproteinase Adamts16 is required for proper closure of the optic fissure. Invest Ophthalmol Vis Sci, 59(3):1167-1177.
29. Sengle G, Tsutsui K, Keene DR, et al (2012). Microenvironmental regulation by fibrillin-1. PLoS Genet, 8(1):e1002425.
30. Cain SA, Mularczyk EJ, Singh M, et al (2016). ADAMTS-10 and-6 differentially regulate cell-cell junctions and focal adhesions. Sci Rep, 6:35956.
31. Dagoneau N, Benoist-Lasselin C, Huber C, et al (2004). ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet, 75(5):801-6.
32. Ahonen SJ, Kaukonen M, Nussdorfer FD, et al (2014). A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma. PloS One, 9(11):e111941.
33. Somerville RP, Jungers KA, Apte SS (2004). Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. J Biol Chem, 279(49):51208-17.
34. Hubmacher D, Apte SS (2011). Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Cell Mol Life Sci, 68(19):3137-48.
35. Hubmacher D, Schneider M, Berardinelli SJ, Takeuchi H, Willard B, Reinhardt DP, Haltiwanger RS, Apte SS (2017). Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. Sci Rep, 7:41871.
| Files | ||
| Issue | Vol 52 No 12 (2023) | |
| Section | Original Article(s) | |
| DOI | https://doi.org/10.18502/ijph.v52i12.14324 | |
| Keywords | ||
| ADAMTS Proteins Gene expression Eye | ||
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How to Cite
1.
Suri F, Biginaloo A, Ghadimi M, Dehghan Banadaki H, Paylakhi SH, Rezaei Kanavi M. Expression Profiling of ADAMTS (L) Superfamily of Genes in Various Human Eye Tissues. Iran J Public Health. 2023;52(12):2630-2642.
