Evaluation of the APOH gene as a positional candidate for prcd in dogs

Weikuan Gu, Kunal Ray, Sue Pearce-Kelling, Victoria J. Baldwin, Amelia A. Langston, Jharna Ray, Elaine A. Ostrander, Gregory M. Acland, Gustavo D. Aguirre

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

PURPOSE. Progressive rod-cone degeneration (prcd) is an autosomal recessive retinal degeneration of dogs characterized by abnormalities in lipid metabolism. It has recently been mapped to the centromeric region of canine chromosome 9, homologous to human 17q, which contains the apolipoprotein H (apoH, protein; APOH, gene) gene involved in lipid metabolism and regulation of triglycerides. The present study was undertaken to evaluate APOH as a positional candidate for prcd. METHODS. Expression of APOH in the retina was examined by reverse transcription-polymerase chain reaction (RT-PCR) and by immunocytochemistry in normal and prcd-affected dogs. The level of apoH in the plasma was determined by western blot analysis. Intragenic polymorphic markers were identified and typed in the prcd pedigree. Canine-rodent hybrid cell lines were analyzed to detect canine APOH. RESULTS. ApoH has been localized to the photoreceptor outer segment layer by immunocytochemistry. Its expression in the retina of normal and prcd-affected dogs was confirmed by RT-PCR. The levels of antihuman apoH cross-reacting material in plasma were similar in all dogs, regardless of disease status. Finally, linkage analysis of the APOH gene with the disease locus in the prcd pedigree detected 3 recombinants among 70 informative offsprings (lod score 15.09 at 0 = 4.3 centimorgan [cM]). CONCLUSIONS. APOH is expressed in the retina and tightly linked to the prcd locus. However, despite its potential role in phenotypes of abnormal lipid metabolism associated with prcd, the gene has been excluded as a primary candidate for prcd by linkage analysis.

Original languageEnglish (US)
Pages (from-to)1229-1237
Number of pages9
JournalInvestigative Ophthalmology and Visual Science
Volume40
Issue number6
StatePublished - May 1 1999
Externally publishedYes

Fingerprint

Dogs
Genes
Lipid Metabolism
Retina
Canidae
Pedigree
Reverse Transcription
beta 2-Glycoprotein I
Immunohistochemistry
Dog Diseases
Lod Score
Cone-Rod Dystrophies
Polymerase Chain Reaction
Retinal Degeneration
Chromosomes, Human, Pair 9
Hybrid Cells
Rodentia
Triglycerides
Western Blotting
Phenotype

All Science Journal Classification (ASJC) codes

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Gu, W., Ray, K., Pearce-Kelling, S., Baldwin, V. J., Langston, A. A., Ray, J., ... Aguirre, G. D. (1999). Evaluation of the APOH gene as a positional candidate for prcd in dogs. Investigative Ophthalmology and Visual Science, 40(6), 1229-1237.

Evaluation of the APOH gene as a positional candidate for prcd in dogs. / Gu, Weikuan; Ray, Kunal; Pearce-Kelling, Sue; Baldwin, Victoria J.; Langston, Amelia A.; Ray, Jharna; Ostrander, Elaine A.; Acland, Gregory M.; Aguirre, Gustavo D.

In: Investigative Ophthalmology and Visual Science, Vol. 40, No. 6, 01.05.1999, p. 1229-1237.

Research output: Contribution to journalArticle

Gu, W, Ray, K, Pearce-Kelling, S, Baldwin, VJ, Langston, AA, Ray, J, Ostrander, EA, Acland, GM & Aguirre, GD 1999, 'Evaluation of the APOH gene as a positional candidate for prcd in dogs', Investigative Ophthalmology and Visual Science, vol. 40, no. 6, pp. 1229-1237.
Gu W, Ray K, Pearce-Kelling S, Baldwin VJ, Langston AA, Ray J et al. Evaluation of the APOH gene as a positional candidate for prcd in dogs. Investigative Ophthalmology and Visual Science. 1999 May 1;40(6):1229-1237.
Gu, Weikuan ; Ray, Kunal ; Pearce-Kelling, Sue ; Baldwin, Victoria J. ; Langston, Amelia A. ; Ray, Jharna ; Ostrander, Elaine A. ; Acland, Gregory M. ; Aguirre, Gustavo D. / Evaluation of the APOH gene as a positional candidate for prcd in dogs. In: Investigative Ophthalmology and Visual Science. 1999 ; Vol. 40, No. 6. pp. 1229-1237.
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abstract = "PURPOSE. Progressive rod-cone degeneration (prcd) is an autosomal recessive retinal degeneration of dogs characterized by abnormalities in lipid metabolism. It has recently been mapped to the centromeric region of canine chromosome 9, homologous to human 17q, which contains the apolipoprotein H (apoH, protein; APOH, gene) gene involved in lipid metabolism and regulation of triglycerides. The present study was undertaken to evaluate APOH as a positional candidate for prcd. METHODS. Expression of APOH in the retina was examined by reverse transcription-polymerase chain reaction (RT-PCR) and by immunocytochemistry in normal and prcd-affected dogs. The level of apoH in the plasma was determined by western blot analysis. Intragenic polymorphic markers were identified and typed in the prcd pedigree. Canine-rodent hybrid cell lines were analyzed to detect canine APOH. RESULTS. ApoH has been localized to the photoreceptor outer segment layer by immunocytochemistry. Its expression in the retina of normal and prcd-affected dogs was confirmed by RT-PCR. The levels of antihuman apoH cross-reacting material in plasma were similar in all dogs, regardless of disease status. Finally, linkage analysis of the APOH gene with the disease locus in the prcd pedigree detected 3 recombinants among 70 informative offsprings (lod score 15.09 at 0 = 4.3 centimorgan [cM]). CONCLUSIONS. APOH is expressed in the retina and tightly linked to the prcd locus. However, despite its potential role in phenotypes of abnormal lipid metabolism associated with prcd, the gene has been excluded as a primary candidate for prcd by linkage analysis.",
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AU - Langston, Amelia A.

AU - Ray, Jharna

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AU - Aguirre, Gustavo D.

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N2 - PURPOSE. Progressive rod-cone degeneration (prcd) is an autosomal recessive retinal degeneration of dogs characterized by abnormalities in lipid metabolism. It has recently been mapped to the centromeric region of canine chromosome 9, homologous to human 17q, which contains the apolipoprotein H (apoH, protein; APOH, gene) gene involved in lipid metabolism and regulation of triglycerides. The present study was undertaken to evaluate APOH as a positional candidate for prcd. METHODS. Expression of APOH in the retina was examined by reverse transcription-polymerase chain reaction (RT-PCR) and by immunocytochemistry in normal and prcd-affected dogs. The level of apoH in the plasma was determined by western blot analysis. Intragenic polymorphic markers were identified and typed in the prcd pedigree. Canine-rodent hybrid cell lines were analyzed to detect canine APOH. RESULTS. ApoH has been localized to the photoreceptor outer segment layer by immunocytochemistry. Its expression in the retina of normal and prcd-affected dogs was confirmed by RT-PCR. The levels of antihuman apoH cross-reacting material in plasma were similar in all dogs, regardless of disease status. Finally, linkage analysis of the APOH gene with the disease locus in the prcd pedigree detected 3 recombinants among 70 informative offsprings (lod score 15.09 at 0 = 4.3 centimorgan [cM]). CONCLUSIONS. APOH is expressed in the retina and tightly linked to the prcd locus. However, despite its potential role in phenotypes of abnormal lipid metabolism associated with prcd, the gene has been excluded as a primary candidate for prcd by linkage analysis.

AB - PURPOSE. Progressive rod-cone degeneration (prcd) is an autosomal recessive retinal degeneration of dogs characterized by abnormalities in lipid metabolism. It has recently been mapped to the centromeric region of canine chromosome 9, homologous to human 17q, which contains the apolipoprotein H (apoH, protein; APOH, gene) gene involved in lipid metabolism and regulation of triglycerides. The present study was undertaken to evaluate APOH as a positional candidate for prcd. METHODS. Expression of APOH in the retina was examined by reverse transcription-polymerase chain reaction (RT-PCR) and by immunocytochemistry in normal and prcd-affected dogs. The level of apoH in the plasma was determined by western blot analysis. Intragenic polymorphic markers were identified and typed in the prcd pedigree. Canine-rodent hybrid cell lines were analyzed to detect canine APOH. RESULTS. ApoH has been localized to the photoreceptor outer segment layer by immunocytochemistry. Its expression in the retina of normal and prcd-affected dogs was confirmed by RT-PCR. The levels of antihuman apoH cross-reacting material in plasma were similar in all dogs, regardless of disease status. Finally, linkage analysis of the APOH gene with the disease locus in the prcd pedigree detected 3 recombinants among 70 informative offsprings (lod score 15.09 at 0 = 4.3 centimorgan [cM]). CONCLUSIONS. APOH is expressed in the retina and tightly linked to the prcd locus. However, despite its potential role in phenotypes of abnormal lipid metabolism associated with prcd, the gene has been excluded as a primary candidate for prcd by linkage analysis.

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