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Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken

Record type: Article

Purpose: To identify the locus responsible for rge (retinopathy globe enlarged) in chickens and further characterise the rge phenotype.
Methods: A colony of chickens carrying the rge mutation was rederived from a single heterozygous animal of the original line. The eyes of blind, heterozygous and normal birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. DNA samples were obtained and subjected to a whole genome linkage search.
Results: From 138 classified backcross progeny, 56 birds were blind and 82 sighted. Heterozygous birds were indistinguishable from wild type, but homozygotes had sluggish or unresponsive pupils, posterior sub-capsular lens opacities and an atrophic pecten. The fundus appeared normal with no significant pigmentary disturbance, but axial length and eye weight were increased. Pathology revealed focal retinal lesions. Linkage analysis placed the rge locus in a small region of chicken chromosome 1.
Conclusions: rge is a severe recessive retinal dystrophy in chickens, with associated globe enlargement. Linkage mapping has highlighted chicken chromosome 1 in a region most probably homologous to human chromosomes 7q31-35, 21q21 or 22q12-21. Candidate disease loci include RP10 (IMPDH1) and uncharacterised Ushers (USH1E) and glaucoma (GLC1F) loci.

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Citation

Inglehearn, Chris F., Morrice, David R., Lester, Douglas H., Robertson, Graeme W., Mohamed, Moin D., Simmons, Ian, Downey, Louise M., Thaung, Caroline, Bridges, Leslie R., Paton, Ian R., Smith, Jacqueline, Petersen-Jones, Simon, Hocking, Paul M. and Burt, David W. (2003) Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken Molecular Vision, 9, pp. 295-300.

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Published date: 2003

Identifiers

Local EPrints ID: 27608
URI: http://eprints.soton.ac.uk/id/eprint/27608
PURE UUID: 575a5375-4f7f-453d-8429-8ddf56d5d79c

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Date deposited: 28 Apr 2006
Last modified: 17 Jul 2017 16:04

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Contributors

Author: Chris F. Inglehearn
Author: David R. Morrice
Author: Douglas H. Lester
Author: Graeme W. Robertson
Author: Moin D. Mohamed
Author: Ian Simmons
Author: Louise M. Downey
Author: Caroline Thaung
Author: Leslie R. Bridges
Author: Ian R. Paton
Author: Jacqueline Smith
Author: Simon Petersen-Jones
Author: Paul M. Hocking
Author: David W. Burt

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