Retina International's Scientific Newsletter - Pigment Epithelium-derived Factor

	Retina International's Scientific Newsletter
Editor's Notes from literature on Pigment Epithelium-derived Factor (PEDF)

Recent update from: 19.12.1999

PEDF

Notes

Augments neuronal cell survival
CAAT-box at -43
Dense cluster of Alu-repeats in 5' region
Homology to serpin gene family
Behaves as a noninhibitory serpin
Expressed only at G₀ in cultured fibroblasts = implicated in cell cycle
HNF-1 binding sequence at -62
Octomer family sequence at -113
PEA3 at -122 and -129
C/EBP transcription factor sequence at -654
SP-1 site at -1030
RAR motif at -204
TREp motif at -202
First exon non-coding

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13
	in mouse:

Gene Data

cDNA: 1,5 kb

Exons: 8

Primers: Complete

Protein Data

Aminoacids: 480 AA

Molecularweight	on SDS-PAGE: 50 kDa
	calculated:

Reference: (5)

PEDF

Notes

Has neurotrophic effect
Highly expressed in RPE
Flanking markers: D17S849 - D17S938
Polymorphism in Exon 4: codon 130 C - G, codon 132 T - C

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13.3
	in mouse:

Gene Data

Exons:

Primers: Exon 4

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (1)

Online Reference

PEDF

Notes

Induces neurit extension
Expression in liver, testes, ovaries
Identified in conditioned medium of cultured human fetal cells
Synthesized by RPE cells and secreted into IPM

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13.1
	in mouse:

Gene Data

cDNA: 1,5 kb

Exons: 8

Primers:

Protein Data

Aminoacids: 480 AA

Molecularweight	on SDS-PAGE: 50 kDa
	calculated:

Reference: (3)

PEDF

Notes

induces neurit extension
expression in liver, testes, ovaries

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 17p13.1
	in mouse:

Gene Data

cDNA: 1,5 kb

Exons: 8

Primers:

Protein Data

Aminoacids: 480 AA

Molecularweight	on SDS-PAGE: 50 kDa
	calculated:

Reference: (4)

PEDF

Notes

Possible role in regulating RPE cell differentiation
Serin protease inhibitor supergene family (serpin)
Induces neuronal differentiation of Y-79 retinoblastoma cells
Induces phenotypic differentiation with development of adhesion properties, increase of pigment granules and appearance of mature melanosomes

Species: Rattus norvegicus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (2)

References:

1. Goliath, R., Tombran Tink, J., Rodriguez, I.R., Chader, G., Ramesar, R., and Greenberg, J. The gene for PDEF, a retinal growth factor, is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3. 1996; Mol.Vis. 2: 5
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Human Mutation Online

2. Malchiodi-Albedi, F., Feher, J., Caiazza, S., Formisano, G., Perilli, R., Falchi, M., Petrucci, T.C., Scorcia, G., and Tombran-Tink, J. PEDF (pigment epithelium-derived factor) promotes increase and maturation of pigment granules in pigment epithelial cells in neonatal albino rat retinal cultures. 1998; Int.J.Dev.Neurosci. 16: 423 - 432.
Goto Top Link to PudMed

3. Tombran Tink, J., Pawar, H., Swaroop, A., Rodriguez, I., and Chader, G.J. Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells. 1994; Genomics. 19: 266 - 272.
Goto Top Link to PudMed

4. Tombran Tink, J., Rodriguez, I.R., Mazuruk, K., Shivaram, S., Li, A., and Chader, G. Structural analysis of the gene for pigment epithelium differentiation (PDEF) factor. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1312
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5. Tombran-Tink, J., Mazuruk, K., Rodriguez, I.R., Chung, D., Linker, T., Englander, E., and Chader, G.J. Organization, evolutionary conservation, expression and unusual Alu density of the human gene for pigment epithelium-derived factor, a unique neurotrophic serpin. 1996; Mol.Vis. 2: 11
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Human Mutation Online

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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