Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells
(2002) In Investigative Ophthalmology & Visual Science 43(9). p.2825-2833- Abstract
- PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. METHODS: Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted... (More)
- PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. METHODS: Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. RESULTS: Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. CONCLUSIONS: The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1125398
- author
- Lenzner, Steffen ; Prietz, Sandra ; Feil, Silke ; Nuber, Ulrike LU ; Ropers, H-Hilger and Berger, Wolfgang
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Investigative Ophthalmology & Visual Science
- volume
- 43
- issue
- 9
- pages
- 2825 - 2833
- publisher
- Association for Research in Vision and Ophthalmology Inc.
- external identifiers
-
- pmid:12202498
- scopus:0036725825
- ISSN
- 1552-5783
- language
- English
- LU publication?
- no
- id
- 96e4cf36-8da2-4daa-be66-ce040cde2858 (old id 1125398)
- alternative location
- http://www.iovs.org/cgi/content/abstract/43/9/2825
- date added to LUP
- 2016-04-01 15:54:09
- date last changed
- 2022-01-28 07:55:03
@article{96e4cf36-8da2-4daa-be66-ce040cde2858, abstract = {{PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. METHODS: Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. RESULTS: Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. CONCLUSIONS: The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse.}}, author = {{Lenzner, Steffen and Prietz, Sandra and Feil, Silke and Nuber, Ulrike and Ropers, H-Hilger and Berger, Wolfgang}}, issn = {{1552-5783}}, language = {{eng}}, number = {{9}}, pages = {{2825--2833}}, publisher = {{Association for Research in Vision and Ophthalmology Inc.}}, series = {{Investigative Ophthalmology & Visual Science}}, title = {{Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells}}, url = {{http://www.iovs.org/cgi/content/abstract/43/9/2825}}, volume = {{43}}, year = {{2002}}, }