Title |
Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6
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Published in |
BMC Genomic Data, December 2008
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DOI | 10.1186/1471-2156-9-88 |
Pubmed ID | |
Authors |
Lisa S Andersson, Rytis Juras, David T Ramsey, Jessica Eason-Butler, Susan Ewart, Gus Cothran, Gabriella Lindgren |
Abstract |
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. |
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