A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy

American Journal of Ophthalmology

Volumn 142, Issue 5, 2006, Pages

  Lin, Ruth J ^a   Blumenkranz, Mark S ^a   Binkley, Jonathan ^a   Wu, Kathy ^a   Vollrath, Douglas ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; HISTIDINE; MUTANT PROTEIN; TISSUE INHIBITOR OF METALLOPROTEINASE 3;

ADULT; ARTICLE; BIOCHEMISTRY; BIOINFORMATICS; CELL FUNCTION; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROL GROUP; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; EMBRYO; EYE FUNDUS; FAMILY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MEDICAL RECORD REVIEW; MOLECULAR EVOLUTION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOLOGY; PATHOGENESIS; PHENOTYPE; PHYLOGENY; PIGMENT EPITHELIUM; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PROTEIN SYNTHESIS; RETINA MACULOPATHY; SEQUENCE HOMOLOGY; SORSBY FUNDUS DYSTROPHY; SUBRETINAL NEOVASCULARIZATION; SUBSTITUTION REACTION; VERTEBRATE;

EID: 33750070028     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2006.06.003     Document Type: Article

References (50)

1. Sorsby A., Masson M.E.J., and Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol 33 (1949) 67-97
2. Polkinghorne P.J., Capon M.R., Berninger T., et al. Sorsby's fundus dystrophy. A clinical study. Ophthalmology 96 (1989) 1763-1768
3. Lip P.L., Good P.A., and Gibson J.M. Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. Eye 13 (1999) 16-25
4. Arris C.E., Bevitt D.J., Mohamed J., et al. Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. Biochim Biophys Acta 1638 (2003) 20-28
5. Capon M.R., Marshall J., Krafft J.I., et al. Sorsby's fundus dystrophy. A light and electron microscopic study. Ophthalmology 96 (1989) 1769-1777
6. Felbor U., Suvanto E.A., Forsius H.R., et al. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 60 (1997) 57-62
7. Weber B.H., Vogt G., Pruett R.C., et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 8 (1994) 352-356
8. Della N.G., Campochiaro P.A., and Zack D.J. Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest Ophthalmol Vis Sci 37 (1996) 1921-1924
9. Murphy G., Willenbrock F., Crabbe T., et al. Regulation of matrix metalloproteinase activity. Ann N Y Acad Sci 732 (1994) 31-41
10. Brew K., Dinakarpandian D., and Nagase H. Tissue inhibitors of metalloproteinases: evolution, structure and function. Biochim Biophys Acta 1477 (2000) 267-283
11. Zhao H., Bernardo M.M., Osenkowski P., et al. Differential inhibition of membrane type 3 (MT3)-matrix metalloproteinase (MMP) and MT1-MMP by tissue inhibitor of metalloproteinase (TIMP)-2 and TIMP-3 regulates pro-MMP-2 activation. J Biol Chem 279 (2004) 8592-8601
12. Denhardt D.T., Feng B., Edwards D.R., et al. Tissue inhibitor of metalloproteinases (TIMP, aka EPA): structure, control of expression and biological functions. Pharmacol Ther 59 (1993) 329-341
13. Leco K.J., Khokha R., Pavloff N., et al. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is an extracellular matrix-associated protein with a distinctive pattern of expression in mouse cells and tissues. J Biol Chem 269 (1994) 9352-9360
14. Langton K.P., Barker M.D., and McKie N. Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. J Biol Chem 273 (1998) 16778-16781
15. Fariss R.N., Apte S.S., Luthert P.J., et al. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. Br J Ophthalmol 82 (1998) 1329-1334
16. Kamei M., and Hollyfield J.G. TIMP-3 in Bruch's membrane: changes during aging and in age-related macular degeneration. Invest Ophthalmol Vis Sci 40 (1999) 2367-2375
17. Qi J.H., Ebrahem Q., Moore N., et al. A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. Nat Med 9 (2003) 407-415
18. Mohammed F.F., Smookler D.S., Taylor S.E., et al. Abnormal TNF activity in Timp3-/- mice leads to chronic hepatic inflammation and failure of liver regeneration. Nat Genet 36 (2004) 969-977
19. Langton K.P., McKie N., Curtis A., et al. A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. J Biol Chem 275 (2000) 27027-27031
20. Felbor U., Stohr H., Amann T., et al. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 4 (1995) 2415-2416
21. Felbor U., Benkwitz C., Klein M.L., et al. Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Arch Ophthalmol 115 (1997) 1569-1571
22. Jacobson S.G., Cideciyan A.V., Regunath G., et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 11 (1995) 27-32
23. Barbazetto I.A., Hayashi M., Klais C.M., et al. A novel TIMP3 mutation associated with Sorsby fundus dystrophy. Arch Ophthalmol 123 (2005) 542-543
24. Jacobson S.G., Cideciyan A.V., Bennett J., et al. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol 120 (2002) 376-379
25. Tabata Y., Isashiki Y., Kamimura K., et al. A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. Hum Genet 103 (1998) 179-182
26. Langton K.P., McKie N., Smith B.M., et al. Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. Hum Mol Genet 14 (2005) 3579-3586
27. Yeow K.M., Kishnani N.S., Hutton M., et al. Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix. Matrix Biol 21 (2002) 75-88
28. Weber B.H., Lin B., White K., et al. A mouse model for Sorsby fundus dystrophy. Invest Ophthalmol Vis Sci 43 (2002) 2732-2740
29. Soboleva G., Geis B., Schrewe H., and Weber B.H. Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. J Cell Physiol 197 (2003) 149-156
30. Nickerson D.A., Tobe V.O., and Taylor S.L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25 (1997) 2745-2751
31. Clarke M., Mitchell K.W., Goodship J., et al. Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism. Br J Ophthalmol 85 (2001) 1429-1431
32. Simon A.L., Stone E.A., and Sidow A. Inference of functional regions in proteins by quantification of evolutionary constraints. Proc Natl Acad Sci U S A 99 (2002) 2912-2917
33. Stone E.A., and Sidow A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15 (2005) 978-986
34. Williamson R.A., Marston F.A., Angal S., et al. Disulphide bond assignment in human tissue inhibitor of metalloproteinases (TIMP). Biochem J 268 (1990) 267-274
35. Gomis-Ruth F.X., Maskos K., Betz M., et al. Mechanism of inhibition of the human matrix metalloproteinase stromelysin-1 by TIMP-1. Nature 389 (1997) 77-81
36. Fernandez-Catalan C., Bode W., Huber R., et al. Crystal structure of the complex formed by the membrane type 1-matrix metalloproteinase with the tissue inhibitor of metalloproteinases-2, the soluble pro gelatinase A receptor. EMBO J 17 (1998) 5238-5248
37. Organoma E., Tuttle A., Bergmann U., and Tryggvason K. Structural insight into the complex formation of latent matrix metalloproteinase 2 with tissue inhibitor of metalloproteinase 2. Proc Natl Acad Sci U S A 99 (2002) 7414-7419
38. Schwede T., Kopp J., Guex N., and Peitsch M.C. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res 31 (2003) 3381-3385
39. Haines J.L., Hauser M.A., Schmidt S., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308 (2005) 419-421
40. Li Z., Clarke M.P., Barker M.D., and McKie N. TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. Expert Rev Mol Med 7 (2005) 1-15
41. Grantham R. Amino acid difference formula to help explain protein evolution. Science 185 (1974) 862-864
42. Frebourg T., Barbier N., Yan Y.X., et al. Germ-Line p53 mutations in 15 families with Li-Fraumeni Syndrome. Am J Hum Genet 56 (1995) 608-615
43. Takashima H., Boerkoel C.F., John J., et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 32 (2002) 267-272
44. Bachmann F., and Marti H.R. Hemoglobin Zürich. II. Physicochemical properties of the abnormal hemoglobin. Blood 20 (1962) 272-286
45. Kulak S.C., Kozlowski K., Semina E.V., et al. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 7 (1998) 1113-1117
46. Payne M., Yang Z., Katz B.J., et al. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138 (2004) 749-755
47. Edgcomb S., and Murphy K. Variability in the pKa of histidine side-chains correlates with burial within proteins. Proteins 49 (2002) 1-6
48. Klenotic P.A., Munier F.L., Marmorstein L.Y., and Anand-Apte B. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. J Biol Chem 279 (2004) 30469-30473
49. Do C.B., Mahabhashyam M.S., Brudno M., and Batzoglou S. ProbCons: probabilistic consistency-based multiple sequence alignment. Genome Res 15 (2005) 330-340
50. Felbor U., Stohr H., Amann T., et al. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet 33 (1996) 233-236