Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa

David W. Burt, 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, Mike Gentle, Jacqueline Smith, Paul M. Hocking, Chris F. Inglehearn

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Abstract

Purpose: To identify the locus responsible for the blind mutation rdd (retinal dysplasia and degeneration) in chickens and to further characterise the rdd phenotype.

Methods: The eyes of blind and sighted birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. Electroretinography was used to determine age of onset. Birds were crossed to create pedigrees suitable for genetic mapping. DNA samples were obtained and subjected to a linkage search.

Results: Measurement of IOP, axial length, corneal diameter, and eye weight revealed no gross morphological changes in the rdd eye. However, on ophthalmic examination, rdd homozygotes have a sluggish pupillary response, atrophic pecten, and widespread pigmentary disturbance that becomes more pronounced with age. Older birds also have posterior subcapsular cataracts. At three weeks of age, homozygotes have a flat ERG indicating severe loss of visual function. Pathological examination shows thinning of the RPE, ONL, photoreceptors and INL, and attenuation of the ganglion cell layer. From 77 classified backcross progeny, 39 birds were blind and 38 sighted. The rdd mutation was shown to be sex-linked and not autosomal as previously described. Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p.

Conclusions: Ophthalmic, histopathologic, and electrophysiological observations suggest rdd is similar to human recessive retinitis pigmentosa. Linkage mapping places rdd in a region homologous to human chromosomes 9p and 5q. Candidate disease genes or loci include PDE6A, WGN1, and USH2C. This is the first use of genetic mapping in a chicken model of human disease.
Original languageEnglish
Pages (from-to)164-170
Number of pages7
JournalMolecular Vision
Volume9
StatePublished - 30 Apr 2003

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Retinitis Pigmentosa
Chickens
Birds
Homozygote
Human Chromosomes
Mutation
Retinal Dysplasia
Electroretinography
Retinal Degeneration
Chromosome Mapping
Pedigree
Age of Onset
Ganglia
Cataract
Chromosomes
Phenotype
DNA
Genes

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Burt, D. W., Morrice, D. R., Lester, D. H., Robertson, G. W., Mohamed, M. D., Simmons, I., ... Inglehearn, C. F. (2003). Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. Molecular Vision, 9, 164-170.

Burt, David W.; 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.; Gentle, Mike; Smith, Jacqueline; Hocking, Paul M.; Inglehearn, Chris F. / Analysis of the rdd locus in chicken : a model for human retinitis pigmentosa.

In: Molecular Vision, Vol. 9, 30.04.2003, p. 164-170.

Research output: Contribution to journalArticle

@article{e1a16075ce09428991aaa528ddd5ac10,
title = "Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa",
abstract = "Purpose: To identify the locus responsible for the blind mutation rdd (retinal dysplasia and degeneration) in chickens and to further characterise the rdd phenotype.Methods: The eyes of blind and sighted birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. Electroretinography was used to determine age of onset. Birds were crossed to create pedigrees suitable for genetic mapping. DNA samples were obtained and subjected to a linkage search.Results: Measurement of IOP, axial length, corneal diameter, and eye weight revealed no gross morphological changes in the rdd eye. However, on ophthalmic examination, rdd homozygotes have a sluggish pupillary response, atrophic pecten, and widespread pigmentary disturbance that becomes more pronounced with age. Older birds also have posterior subcapsular cataracts. At three weeks of age, homozygotes have a flat ERG indicating severe loss of visual function. Pathological examination shows thinning of the RPE, ONL, photoreceptors and INL, and attenuation of the ganglion cell layer. From 77 classified backcross progeny, 39 birds were blind and 38 sighted. The rdd mutation was shown to be sex-linked and not autosomal as previously described. Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p.Conclusions: Ophthalmic, histopathologic, and electrophysiological observations suggest rdd is similar to human recessive retinitis pigmentosa. Linkage mapping places rdd in a region homologous to human chromosomes 9p and 5q. Candidate disease genes or loci include PDE6A, WGN1, and USH2C. This is the first use of genetic mapping in a chicken model of human disease.",
author = "Burt, {David W.} 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 Mike Gentle and Jacqueline Smith and Hocking, {Paul M.} and Inglehearn, {Chris F.}",
year = "2003",
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pages = "164--170",
journal = "Molecular Vision",
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Burt, DW, Morrice, DR, Lester, DH, Robertson, GW, Mohamed, MD, Simmons, I, Downey, LM, Thaung, C, Bridges, LR, Paton, IR, Gentle, M, Smith, J, Hocking, PM & Inglehearn, CF 2003, 'Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa' Molecular Vision, vol 9, pp. 164-170.

Analysis of the rdd locus in chicken : a model for human retinitis pigmentosa. / Burt, David W.; 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.; Gentle, Mike; Smith, Jacqueline; Hocking, Paul M.; Inglehearn, Chris F.

In: Molecular Vision, Vol. 9, 30.04.2003, p. 164-170.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Analysis of the rdd locus in chicken

T2 - Molecular Vision

AU - Burt,David W.

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 - Gentle,Mike

AU - Smith,Jacqueline

AU - Hocking,Paul M.

AU - Inglehearn,Chris F.

PY - 2003/4/30

Y1 - 2003/4/30

N2 - Purpose: To identify the locus responsible for the blind mutation rdd (retinal dysplasia and degeneration) in chickens and to further characterise the rdd phenotype.Methods: The eyes of blind and sighted birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. Electroretinography was used to determine age of onset. Birds were crossed to create pedigrees suitable for genetic mapping. DNA samples were obtained and subjected to a linkage search.Results: Measurement of IOP, axial length, corneal diameter, and eye weight revealed no gross morphological changes in the rdd eye. However, on ophthalmic examination, rdd homozygotes have a sluggish pupillary response, atrophic pecten, and widespread pigmentary disturbance that becomes more pronounced with age. Older birds also have posterior subcapsular cataracts. At three weeks of age, homozygotes have a flat ERG indicating severe loss of visual function. Pathological examination shows thinning of the RPE, ONL, photoreceptors and INL, and attenuation of the ganglion cell layer. From 77 classified backcross progeny, 39 birds were blind and 38 sighted. The rdd mutation was shown to be sex-linked and not autosomal as previously described. Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p.Conclusions: Ophthalmic, histopathologic, and electrophysiological observations suggest rdd is similar to human recessive retinitis pigmentosa. Linkage mapping places rdd in a region homologous to human chromosomes 9p and 5q. Candidate disease genes or loci include PDE6A, WGN1, and USH2C. This is the first use of genetic mapping in a chicken model of human disease.

AB - Purpose: To identify the locus responsible for the blind mutation rdd (retinal dysplasia and degeneration) in chickens and to further characterise the rdd phenotype.Methods: The eyes of blind and sighted birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. Electroretinography was used to determine age of onset. Birds were crossed to create pedigrees suitable for genetic mapping. DNA samples were obtained and subjected to a linkage search.Results: Measurement of IOP, axial length, corneal diameter, and eye weight revealed no gross morphological changes in the rdd eye. However, on ophthalmic examination, rdd homozygotes have a sluggish pupillary response, atrophic pecten, and widespread pigmentary disturbance that becomes more pronounced with age. Older birds also have posterior subcapsular cataracts. At three weeks of age, homozygotes have a flat ERG indicating severe loss of visual function. Pathological examination shows thinning of the RPE, ONL, photoreceptors and INL, and attenuation of the ganglion cell layer. From 77 classified backcross progeny, 39 birds were blind and 38 sighted. The rdd mutation was shown to be sex-linked and not autosomal as previously described. Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p.Conclusions: Ophthalmic, histopathologic, and electrophysiological observations suggest rdd is similar to human recessive retinitis pigmentosa. Linkage mapping places rdd in a region homologous to human chromosomes 9p and 5q. Candidate disease genes or loci include PDE6A, WGN1, and USH2C. This is the first use of genetic mapping in a chicken model of human disease.

M3 - Article

VL - 9

SP - 164

EP - 170

JO - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

ER -

Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I et al. Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. Molecular Vision. 2003 Apr 30;9:164-170.