Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Norrie Disease Gene (NDG)

Recent update from: 19.12.1999

NDP

Notes

Homology to cysteine knot growth factors
Expression begins in later stages of development and continues to adulthood
Expression in eye, brain, inner ear and nasal epithelium
AP-NDP construct expressed in 293T cells is secreted
Monomers and dimers are formed

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (3)

NDP

Notes

TATA-box at -85

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids: 133

Molecularweight	on SDS-PAGE:
	calculated: 15043

Reference: (2)

NDP

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA: 1.9

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (1)

NDP

Notes

AP-NDP binds to cornea epithelium, inner retina, molecular layer of cerebellum, temporal lobe of brain, nasal epithelium, skin epidermis, inner root sheat of the vibrissal follicle

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (3)

NDP

Notes

NDP regulates
- normal vascularization of the inner retinal layers
- degeneration of hyaloid vessels
- sprouting of vessels in the inner layers of the retina
Kinds of vascular changes in knockout:
1. lack of vessels in OPL, IPL, INL
2. increase in the number of blood vessels in GCL, NFL
3. formation of fenestration in retinal vessels beginning P14
4. penetration of vessels through ILM
5. persistence of hyaloid vessels in the vitreous of ND mice older P20

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (4)

NDP

Notes

Indication of different expression of NDG in mice and human
Replacement mutation in exon 2
Expression in retina, brain, olfactory bulb, olfactory epithelium at 2 weeks

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids: 131 AA

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (5)

References:

1. Berger, W., Meindl, A., van de Pol, T.J., Cremers, F.P., Ropers, H.H., Doerner, C., Monaco, A., Bergen, A.A.B., Lebo, R., Warburg, M., and et al. Isolation of a candidate gene for Norrie disease by positional cloning [published erratum appears in Nat Genet 1992 Sep;2(1):84]. 1992; Nat.Genet. 1: 199 - 203.
Goto Top Link to PudMed

2. Chen, Z.Y., Hendriks, R.W., Jobling, M.A., Powell, J.F., Breakefield, X.O., Sims, K.B., and Craig, I.W. Isolation and characterization of a candidate gene for Norrie disease. 1992; Nat.Genet. 1: 204 - 208.
Goto Top Link to PudMed

3. Rehm, H.L. and Morton, C.C. An expression cloning approach to identify a receptor for norrin, the protein responsible for Norrie disease. 1998; Am.J.Hum.Genet. 63: A190
Goto Top

4. Richter, M., Gottanka, J., May, C.A., Welge Lussen, U., Berger, W., and Lutjen Drecoll, E. Retinal vasculature changes in Norrie disease mice. 1998; Invest.Ophthalmol.Vis.Sci. 39: 2450 - 2457.
Goto Top Link to PudMed

5. Ruether, K., van de Pol, D., Jaissle, G., Berger, W., Tornow, R.P., and Zrenner, E. Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene. 1997; Invest.Ophthalmol.Vis.Sci. 38: 710 - 718.
Goto Top

	Return to Retina International's Scientific Newsletter	Return to pagehead
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