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Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6

BACKGROUND: Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for...

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Autores principales: Andersson, Lisa S, Juras, Rytis, Ramsey, David T, Eason-Butler, Jessica, Ewart, Susan, Cothran, Gus, Lindgren, Gabriella
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653074/
https://www.ncbi.nlm.nih.gov/pubmed/19099555
http://dx.doi.org/10.1186/1471-2156-9-88
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author Andersson, Lisa S
Juras, Rytis
Ramsey, David T
Eason-Butler, Jessica
Ewart, Susan
Cothran, Gus
Lindgren, Gabriella
author_facet Andersson, Lisa S
Juras, Rytis
Ramsey, David T
Eason-Butler, Jessica
Ewart, Susan
Cothran, Gus
Lindgren, Gabriella
author_sort Andersson, Lisa S
collection PubMed
description BACKGROUND: Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnormalities, cornea globosa, iris hypoplasia and congenital cataracts. MCOA is most common in the Rocky Mountain horse breed where it occurs at a high frequency among Silver colored horses. The Silver coat color is associated with mutations in PMEL17 that resides on ECA6q23. To map the MCOA locus we analyzed 11 genetic markers on ECA6q and herein describe a chromosome interval for the MCOA locus. RESULTS: We performed linkage analysis within 17 paternal half-sib families of the Rocky Mountain horse breed. More than half of the 131 offspring had the Cyst phenotype and about one third had MCOA. Segregation data were obtained by genotyping 10 microsatellite markers most of which are positioned on ECA6q22-23, as well as the missense mutation for the Silver phenotype in PMEL17. Significant linkage was found between the MCOA locus and eight of the genetic markers, where marker UPP5 (Theta = 0, z = 12.3), PMEL17ex11 (Theta = 0, z = 19.0) and UPP6 (Theta = 0, z = 17.5) showed complete linkage with the MCOA locus. DNA sequencing of PMEL17 in affected and healthy control individuals did not reveal any additional mutations than the two mutations associated with the Silver coat color. CONCLUSION: The MCOA locus can with high confidence be positioned within a 4.9 megabase (Mb) interval on ECA6q. The genotype data on UPP5, PMEL17ex11 and UPP6 strongly support the hypothesis that horses with the Cyst phenotype are heterozygous for the mutant allele and that horses with the MCOA phenotype are homozygous for the mutant allele.
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spelling pubmed-26530742009-03-10 Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6 Andersson, Lisa S Juras, Rytis Ramsey, David T Eason-Butler, Jessica Ewart, Susan Cothran, Gus Lindgren, Gabriella BMC Genet Research Article BACKGROUND: Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnormalities, cornea globosa, iris hypoplasia and congenital cataracts. MCOA is most common in the Rocky Mountain horse breed where it occurs at a high frequency among Silver colored horses. The Silver coat color is associated with mutations in PMEL17 that resides on ECA6q23. To map the MCOA locus we analyzed 11 genetic markers on ECA6q and herein describe a chromosome interval for the MCOA locus. RESULTS: We performed linkage analysis within 17 paternal half-sib families of the Rocky Mountain horse breed. More than half of the 131 offspring had the Cyst phenotype and about one third had MCOA. Segregation data were obtained by genotyping 10 microsatellite markers most of which are positioned on ECA6q22-23, as well as the missense mutation for the Silver phenotype in PMEL17. Significant linkage was found between the MCOA locus and eight of the genetic markers, where marker UPP5 (Theta = 0, z = 12.3), PMEL17ex11 (Theta = 0, z = 19.0) and UPP6 (Theta = 0, z = 17.5) showed complete linkage with the MCOA locus. DNA sequencing of PMEL17 in affected and healthy control individuals did not reveal any additional mutations than the two mutations associated with the Silver coat color. CONCLUSION: The MCOA locus can with high confidence be positioned within a 4.9 megabase (Mb) interval on ECA6q. The genotype data on UPP5, PMEL17ex11 and UPP6 strongly support the hypothesis that horses with the Cyst phenotype are heterozygous for the mutant allele and that horses with the MCOA phenotype are homozygous for the mutant allele. BioMed Central 2008-12-19 /pmc/articles/PMC2653074/ /pubmed/19099555 http://dx.doi.org/10.1186/1471-2156-9-88 Text en Copyright © 2008 Andersson et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Andersson, Lisa S
Juras, Rytis
Ramsey, David T
Eason-Butler, Jessica
Ewart, Susan
Cothran, Gus
Lindgren, Gabriella
Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title_full Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title_fullStr Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title_full_unstemmed Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title_short Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
title_sort equine multiple congenital ocular anomalies maps to a 4.9 megabase interval on horse chromosome 6
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653074/
https://www.ncbi.nlm.nih.gov/pubmed/19099555
http://dx.doi.org/10.1186/1471-2156-9-88
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