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

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa
Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa
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.
164-170
Burt, David W.
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Morrice, David R.
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Lester, Douglas H.
d8645806-efbd-480b-8d9c-e93bc601fb1f
Robertson, Graeme W.
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Mohamed, Moin D.
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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.
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Paton, Ian R.
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Gentle, Mike
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Smith, Jacqueline
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Hocking, Paul M.
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Inglehearn, Chris F.
83e4579c-b071-40c5-b220-5ca9d591e86b
Burt, David W.
25cc154a-ea27-4540-b188-3c6943b6f905
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.
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Thaung, Caroline
1b0a2bca-2b05-45e3-8d97-dc27ad2306d1
Bridges, Leslie R.
e5f48c9c-af74-4319-9ea4-ab086e872736
Paton, Ian R.
fded073c-2f7e-4ca9-8822-be995560278f
Gentle, Mike
997de447-c100-482a-a70c-478539eb035c
Smith, Jacqueline
dad1ef47-433b-440f-b204-0724fd93e0c5
Hocking, Paul M.
cff242a0-5074-44c5-8425-76e7a4c280f0
Inglehearn, Chris F.
83e4579c-b071-40c5-b220-5ca9d591e86b

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. and Inglehearn, Chris F. (2003) Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. Molecular Vision, 9, 164-170.

Record type: Article

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.

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Published date: 2003

Identifiers

Local EPrints ID: 27542
URI: https://eprints.soton.ac.uk/id/eprint/27542
PURE UUID: 14f7e258-b1e9-47fc-857f-e7aeff301330

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Date deposited: 27 Apr 2006
Last modified: 15 Jul 2019 19:12

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Contributors

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

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