ArticleBMC genetics2008
Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6.
Article in BMC genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail.Scientific reports · 2018Article
- The refractive state of the eye in Icelandic horses with the Silver mutation.BMC veterinary research · 2017Article
- Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse.Journal of applied genetics · 2016Article
- The utility of low-density genotyping for imputation in the Thoroughbred horse.Genetics, selection, evolution : GSE · 2014Article
- Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.PloS one · 2013Article
- The same ELA class II risk factors confer equine insect bite hypersensitivity in two distinct populations.Immunogenetics · 2012Article
- Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.PLoS genetics · 2011Article
- Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases.Veterinary ophthalmology · 2011Article
- Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases.Mammalian genome : official journal of the International Mammalian Genome Society · 2011Article
- Multiple congenital ocular anomalies in Icelandic horses.BMC veterinary research · 2011Article
- Equine clinical genomics: A clinician's primer.Equine veterinary journal · 2010Review
- Coat color and coat color pattern-related neurologic and neuro-ophthalmic diseases.The Canadian veterinary journal = La revue veterinaire canadienne · 2010Review
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEquine 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.
resultsWe 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.
conclusionThe 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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