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dc.contributor.authorWilson, Gareth R. S.
dc.contributor.authorMorton, James D.
dc.contributor.authorPalmer, David N.
dc.contributor.authorMcEwan, J. C.
dc.contributor.authorGately, Karl
dc.contributor.authorAnderson, R. M.
dc.contributor.authorDodds, K. G.
dc.identifier.citationWilson et al. (2012). The locus for an inherited cataract in sheep maps to ovine chromosome 6. Molecular Vision, 18, 1384-1394.
dc.description.abstractPurpose: Cataracts are an important cause of blindness in humans but there are few large animal models available. One of these animal models is Ovine Heritable Cataract, a bilateral cortical cataract which develops after birth. This cataract has been used as a model for human cataracts in drug trials, but the gene responsible for the cataract trait is unknown. A genetic test for cataract would improve the efficiency of the model by predicting which animals would develop cataracts. Identifying the genetic basis of the cataract would indicate its relevance to human cataract. Methods: A genome scan was performed on 20 sheep chromosomes, representing 86% of the genome, to determine the position of the cataract locus. Additional microsatellite markers were tested on chromosome 6 using a larger pedigree. Fine mapping was performed using a breakpoint panel of 36 animals and novel microsatellite markers taken from the bovine genome assembly. All exons of the candidate gene nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9) were sequenced in normal and affected sheep. Results: Significant linkage was found between cataract status and markers on chromosome 6. Linkage analysis on the larger pedigree showed the most likely position of the cataract locus was between 112.3 and 132.9 cM from the centromere. During fine mapping, NUDT9 was considered as a positional candidate for the cataract gene because it was located within the linked interval and is expressed in the lens. The gene was ruled out as the cataract gene after extensive genotype analysis, but a single nucleotide polymorphism (SNP) inside it provided a useful restriction fragment length polymorphism (RFLP) marker for further fine mapping. Twelve new markers were found and used to map the cataract locus to between 131.1 and 131.8 cM from the centromere. Conclusions: A region of ovine chromosome 6 strongly linked to cataract has been identified, and a genetic test for cataract based on a SNP within this region has been developed. The best candidate gene within this region is AF4/FMR2 family, member 1 (AFF1), the mouse equivalent of which is associated with an inherited cataract.en
dc.description.sponsorshipThis research was supported by the New Zealand Foundation for Research, Science, and Technology, grant number LINX0205.
dc.publisherMolecular Vision on behalf of Emory University
dc.relationThe original publication is available from - Molecular Vision on behalf of Emory University -
dc.rightsAttribution 4.0 International
dc.subjectinherited cataracten
dc.subjectovine chromosome 6en
dc.subjectOvine Heritable Cataract (OHC)en
dc.subjectOphthalmology & Optometryen
dc.subject.meshChromosomes, Mammalianen
dc.subject.meshSheep, Domesticen
dc.subject.meshDisease Models, Animalen
dc.subject.meshSheep Diseasesen
dc.subject.meshDNA-Binding Proteinsen
dc.subject.meshChromosome Mappingen
dc.subject.meshMicrosatellite Repeatsen
dc.subject.meshPolymorphism, Restriction Fragment Lengthen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshGenetic Testingen
dc.subject.meshGenetic Locien
dc.subject.meshGenetic Linkageen
dc.titleThe locus for an inherited cataract in sheep maps to ovine chromosome 6en
dc.typeJournal Article
lu.contributor.unitLincoln University
lu.contributor.unitFaculty of Agriculture and Life Sciences
lu.contributor.unitDepartment of Wine, Food and Molecular Biosciences
dc.subject.anzsrc0702 Animal Productionen
dc.relation.isPartOfMolecular Visionen
pubs.notesPMCID: PMC3370893 Molvis article link:
pubs.organisational-group/LU/Agriculture and Life Sciences
pubs.organisational-group/LU/Agriculture and Life Sciences/WFMB
pubs.organisational-group/LU/Research Management Office
pubs.organisational-group/LU/Research Management Office/QE18

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