Retina International's Scientific Newsletter - Tissue Inhibitor of Metalloproteases 3

	Retina International's Scientific Newsletter
Editor's Notes from literature on Tissue Inhibitor of Metalloproteases (TIMP)

Recent update from: 03.01.2000

TIMP1, type 1

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 28,5 kDa
	calculated:

Reference: (1)

TIMP1, type 1

Notes

4.5 kb genomic
Excluded to cause RP2
Expressed in retina at low levels
Expressed in all nuclear layers of the retina
Located in intron 5 of SYN1
Approximate 100 kb distal from DXS426

Species: Homo sapiens

See also:

Chromosomal localisation	in man: Xp11.23
	in mouse:

Gene Data

Exons: 6

Primers: Complete

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

TIMP2, type 2

Notes

TIMP2 inhibits tumor growth

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

TIMP2, type 2

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE: 21,5 kDa n
	calculated:

Reference: (1)

TIMP2, type 2

Notes

Zn²⁺ dependance
TIMP1: Serum and phorbolester response element
PEA3 binding motif
Sp1 consensus motif

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17q25
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

TIMP3, type 3

Notes

Ser156Cys mutation in Sorsby's Fundus Dystrophy

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

TIMP3, type 3

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Amino acids: 188 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

TIMP3, type 3

Notes

TIMP3 is underlying Sorsby's Fundus Dystrophy
disrupted tertiary structure by Tyr168Cys and Ser181Cys (+Nsi I)

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 22q13-qter
	in mouse:

Gene Data

Exons: 5

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (6)

TIMP3, type 3

Notes

Expressed only in differentiated cells
Expression during wound healing
In RPE cells with polygonal shape

Species: Rattus norvegicus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (5)

References:

1. De Clerck, Y.A., Darville, M.I., Eeckhout, Y., and Rousseau, G.G. Characterization of the promoter of the gene encoding human tissue inhibitor of metalloproteinases-2 (TIMP-2). 1994; Gene. 139: 185 - 191.
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2. Felbor, U., Stohr, H., Amann, T., Schonherr, U., and Weber, B.H.F. A Novel Ser156Cys Mutation In The Tissue Inhibitor Of Metalloproteinases 3 (TIMP3) In Sorsbys Fundus Dystrophy With Unusual Clinical Features. 1995; Hum.Mol.Genet. 4: 2415 - 2416.
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3. Hardcastle, A.J., Thiselton, D.L., Nayudu, M., Hampson, R.M., and Bhattacharya, S.S. Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1893 - 1896.
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4. Silbiger, S.M., Jacobsen, V.L., Cupples, R.L., and Koski, R.A. Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family. 1994; Gene. 141: 293 - 297.
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5. Takahashi, T., Kamei, M., Saishin, Y., Hayashi, A., Morimura, H., Kawasaki, A., Sasabe, T., and Tano, Y. TIMP-3 mRNA Expression During Wound Healing Of Retinal Pigment Epithelium. 1998; Invest.Ophthalmol.Vis.Sci. 39: S730
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6. Weber, B.H.F., Vogt, G., Wolz, W., Ives, E.J., and Ewing, C.C. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. 1994; Nat.Gen. 7: 158 - 161.
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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz