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

Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken
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.
295-300
Inglehearn, Chris F.
83e4579c-b071-40c5-b220-5ca9d591e86b
Morrice, David R.
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Lester, Douglas H.
d8645806-efbd-480b-8d9c-e93bc601fb1f
Robertson, Graeme W.
97fad8b2-0d5a-4d8f-a2e7-b7d4d0cd84be
Mohamed, Moin D.
0696d27b-5313-4281-961b-9f6f493bd125
Simmons, Ian
6b7fcb5f-b58f-4061-a39a-0f28a8da58b4
Downey, Louise M.
4c020580-b846-4007-ae55-406b606253fb
Thaung, Caroline
1b0a2bca-2b05-45e3-8d97-dc27ad2306d1
Bridges, Leslie R.
e5f48c9c-af74-4319-9ea4-ab086e872736
Paton, Ian R.
fded073c-2f7e-4ca9-8822-be995560278f
Smith, Jacqueline
dad1ef47-433b-440f-b204-0724fd93e0c5
Petersen-Jones, Simon
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Hocking, Paul M.
cff242a0-5074-44c5-8425-76e7a4c280f0
Burt, David W.
25cc154a-ea27-4540-b188-3c6943b6f905
Inglehearn, Chris F.
83e4579c-b071-40c5-b220-5ca9d591e86b
Morrice, David R.
0f69929a-1266-4690-b04e-cd2456b3e011
Lester, Douglas H.
d8645806-efbd-480b-8d9c-e93bc601fb1f
Robertson, Graeme W.
97fad8b2-0d5a-4d8f-a2e7-b7d4d0cd84be
Mohamed, Moin D.
0696d27b-5313-4281-961b-9f6f493bd125
Simmons, Ian
6b7fcb5f-b58f-4061-a39a-0f28a8da58b4
Downey, Louise M.
4c020580-b846-4007-ae55-406b606253fb
Thaung, Caroline
1b0a2bca-2b05-45e3-8d97-dc27ad2306d1
Bridges, Leslie R.
e5f48c9c-af74-4319-9ea4-ab086e872736
Paton, Ian R.
fded073c-2f7e-4ca9-8822-be995560278f
Smith, Jacqueline
dad1ef47-433b-440f-b204-0724fd93e0c5
Petersen-Jones, Simon
f309809b-c5ff-4635-8621-4e0f084b8f9a
Hocking, Paul M.
cff242a0-5074-44c5-8425-76e7a4c280f0
Burt, David W.
25cc154a-ea27-4540-b188-3c6943b6f905

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, 295-300.

Record type: Article

Abstract

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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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: 22 Jul 2022 20:37

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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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