Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.

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Version: Final published version
Serval ID
serval:BIB_A9CD5A3261C0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.
Journal
Plos One
Author(s)
Kostic C., Lillico S.G., Crippa S.V., Grandchamp N., Pilet H., Philippe S., Lu Z., King T.J., Mallet J., Sarkis C., Arsenijevic Y., Whitelaw C.B.
ISSN
1932-6203 (Electronic)
ISSN-L
1932-6203
Publication state
Published
Issued date
2013
Peer-reviewed
Oui
Volume
8
Number
8
Pages
e71363
Language
english
Notes
Dataset at
https://figshare.com/articles/_Rapid_Cohort_Generation_and_Analysis_of_Disease_Spectrum_of_Large_Animal_Model_of_Cone_Dystrophy_/776664
doi:10.1371/journal.pone.0071363.s001
doi:10.1371/journal.pone.0071363.s002
doi:10.1371/journal.pone.0071363.s003
Abstract
Large animal models are an important resource for the understanding of human disease and for evaluating the applicability of new therapies to human patients. For many diseases, such as cone dystrophy, research effort is hampered by the lack of such models. Lentiviral transgenesis is a methodology broadly applicable to animals from many different species. When conjugated to the expression of a dominant mutant protein, this technology offers an attractive approach to generate new large animal models in a heterogeneous background. We adopted this strategy to mimic the phenotype diversity encounter in humans and generate a cohort of pigs for cone dystrophy by expressing a dominant mutant allele of the guanylate cyclase 2D (GUCY2D) gene. Sixty percent of the piglets were transgenic, with mutant GUCY2D mRNA detected in the retina of all animals tested. Functional impairment of vision was observed among the transgenic pigs at 3 months of age, with a follow-up at 1 year indicating a subsequent slower progression of phenotype. Abnormal retina morphology, notably among the cone photoreceptor cell population, was observed exclusively amongst the transgenic animals. Of particular note, these transgenic animals were characterized by a range in the severity of the phenotype, reflecting the human clinical situation. We demonstrate that a transgenic approach using lentiviral vectors offers a powerful tool for large animal model development. Not only is the efficiency of transgenesis higher than conventional transgenic methodology but this technique also produces a heterogeneous cohort of transgenic animals that mimics the genetic variation encountered in human patients.
Pubmed
Web of science
Open Access
Yes
Create date
20/09/2013 18:23
Last modification date
20/08/2019 16:14
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