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

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

Research output: Contribution to journalArticle

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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.
Original languageEnglish
Pages (from-to)295-300
Number of pages6
JournalMolecular Vision
Volume9
Issue number2003
StatePublished - 1 Jul 2003

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Chickens
Birds
Chromosomes, Human, Pair 1
Eye Axial Length
Retinal Dystrophies
Chromosome Mapping
Homozygote
Human Chromosomes
Pupil
Glaucoma
Cataract
Genome
Pathology
Phenotype
Mutation
DNA

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Inglehearn, C. F., Morrice, D. R., Lester, D. H., Robertson, G. W., Mohamed, M. D., Simmons, I., ... Burt, D. W. (2003). Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken. Molecular Vision, 9(2003), 295-300.

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.; Burt, David W. / Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.

In: Molecular Vision, Vol. 9, No. 2003, 01.07.2003, p. 295-300.

Research output: Contribution to journalArticle

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title = "Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken",
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.",
author = "Inglehearn, {Chris F.} and Morrice, {David R.} and Lester, {Douglas H.} and Robertson, {Graeme W.} and Mohamed, {Moin D.} and Ian Simmons and Downey, {Louise M.} and Caroline Thaung and Bridges, {Leslie R.} and Paton, {Ian R.} and Jacqueline Smith and Simon Petersen-Jones and Hocking, {Paul M.} and Burt, {David W.}",
year = "2003",
month = "7",
volume = "9",
pages = "295--300",
journal = "Molecular Vision",
issn = "1090-0535",
number = "2003",

}

Inglehearn, CF, Morrice, DR, Lester, DH, Robertson, GW, Mohamed, MD, Simmons, I, Downey, LM, Thaung, C, Bridges, LR, Paton, IR, Smith, J, Petersen-Jones, S, Hocking, PM & Burt, DW 2003, 'Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken' Molecular Vision, vol 9, no. 2003, pp. 295-300.

Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken. / 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.; Burt, David W.

In: Molecular Vision, Vol. 9, No. 2003, 01.07.2003, p. 295-300.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken

AU - Inglehearn,Chris F.

AU - Morrice,David R.

AU - Lester,Douglas H.

AU - Robertson,Graeme W.

AU - Mohamed,Moin D.

AU - Simmons,Ian

AU - Downey,Louise M.

AU - Thaung,Caroline

AU - Bridges,Leslie R.

AU - Paton,Ian R.

AU - Smith,Jacqueline

AU - Petersen-Jones,Simon

AU - Hocking,Paul M.

AU - Burt,David W.

PY - 2003/7/1

Y1 - 2003/7/1

N2 - 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.

AB - 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.

M3 - Article

VL - 9

SP - 295

EP - 300

JO - Molecular Vision

T2 - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

IS - 2003

ER -

Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I et al. Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken. Molecular Vision. 2003 Jul 1;9(2003):295-300.