A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy

Journal of Medical Genetics

Volumn 33, Issue 3, 1996, Pages 233-236

  Felbor, Ute ^a   Stöhr, Heidi ^a   Amann, Thomas ^b   Schönherr, Ulrich ^b   Apfelstedt Sylla, Eckart ^c   Weber, Bernhard H F ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Mutational analysis; Sorsby's fundus dystrophy; Tissue inhibitor of metalloproteinases 3 (TIMP3)

Indexed keywords

CYSTEINE; TISSUE INHIBITOR OF METALLOPROTEINASE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME 22Q; FEMALE; GENE LOCUS; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; VISUAL IMPAIRMENT;

EID: 0030028627     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.3.233     Document Type: Article

References (20)

1. Klein R, Klein BE, Linton KLP. Prevalence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology 1992;99:933-43.
2. Capon MRC, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby's fundus dystrophy: a light and electron microscopic study. Ophthalmology 1989;96:1769-77.
3. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;33:67-97.
4. Polkinghorne PJ, Capon MRC, Berninger T, Lyness AL, Sehmi K, Bird AC. Sorsby's fundus dystrophy: a clinical study. Ophthalmology 1989;96:1763-8.
5. Pauleikhoff D, Chen JC, Chisholm IM, Bird AC. Choroidal perfusion abnormality with age-related Bruch's membrane change. Am J Ophthalmol 1990;109:211-7.
6. Weber BHF, Vogt G, Wolz W, Ives EJ, Ewing CC. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nature Genet 1994;7:158-61.
7. Apte SS, Mattei MG, Olsen BR. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. Genomics 1994;19:86-90.
8. Matrisian LM. Metalloproteinases and their inhibitors in matrix remodeling. Trends Genet 1990;6:121-5.
9. Weber BHF, Vogt G, Pruett RC, Stöhr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet 1994;8:352-6.
10. Felbor U, Stöhr H, Amann T, Schönherr U, Weber BHF. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 1995;4:2415-16.
11. Jacobson SG, Cideciyan AV, Regunath G, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet 1995;11:27-32.
12. Stöhr H, Roomp K, Felbor U, Weber BHF. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome Res (in press).
13. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-9.
14. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
15. Leco KJ, Khokha R, Pavloff N, Hawkes SP, Edwards DR. Tissue inhibitor of metalloproteinases-3 (TIMP3) is an extracellular matrix-associated protein with a distinctive pattern of expression in mouse cells and tissues. J Biol Chem 1994;269:9352-60.
16. Pavloff N, Staskus PW, Kishnani NS, Hawkes SP. A new inhibitor of metalloproteinases from chicken: ChIMP-3. A third member of the TIMP family. J Biol Chem 1992;267:17321-6.
17. Willenbrock F, Crabbe T, Slocombe PM, et al. The activity of the tissue inhibitors of metalloproteinases is regulated by C-terminal domain interactions: a kinetic analysis of the inhibition of gelatinase A. Biochemistry 1993;32:4330-7.
18. Nguyen Q, Willenbrock F, Cockett MI, O'Shea M, Docherty AJP, Murphy G. Different domain interactions are involved in the binding of tissue inhibitors of metalloproteinases to stromelysin-1 and gelatinase A. Biochemistry 1994;33:2089-95.
19. Murphy G, Houbrechts A, Cockett MI, Williamson RA, O'Shea M, Docherty AJP. The N-terminal domain of tissue inhibitor of metalloproteinases retains metalloproteinase inhibitory activity. Biochemistry 1991;30:8097-102.
20. DeClerck YA, Yean TD, Lee Y, Tomich JM, Langley KE. Characterization of the functional domain of tissue inhibitor of metalloproteinases-2 (TIMP-2), Biochem J 1993;289:65-9.