title: A mutation in gene CNGA3 is associated with day blindness in sheep.
abstract: Lambs with congenital day blindness show diminished cone function, which is characteristic of achromatopsia, a congenital disorder described in humans and dogs. To identify gene(s) associated with sheep day blindness, we investigated mutations in the CNGA3, CNGB3, and GNAT2 genes which have been associated with achromatopsia. Sequencing the coding regions of those genes from four affected and eight non-affected lambs showed that all affected lambs were homozygous for a mutation in the CNGA3 gene that changes amino acid R236 to a stop codon. By PCR-RFLP-based testing, homozygosity for the stop codon mutation was detected in another 19 affected lambs. Non-affected individuals (n=386) were non-carriers or heterozygous for the mutation. While a selection program has been launched to eradicate the day blindness mutation from Improved Awassi flocks, a breeding nucleus of day-blind sheep has been established to serve as animal models for studying human achromatopsia.
authors.affiliation: Institute of Animal Science, The Volcani Center, Bet Dagan, Israel.
authors.forename: Shay
authors.initials: S
authors.lastname: Reicher
authors.forename: Eyal
authors.initials: E
authors.lastname: Seroussi
authors.forename: Elisha
authors.initials: E
authors.lastname: Gootwine
mesh_terms: D000818:Animals; D003062:Codon; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics* / Q000378:metabolism; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D017948:Retinal Rod Photoreceptor Cells / Q000378:metabolism; D012756:Sheep; D012757:Sheep Diseases / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics / Q000662:veterinary*
chemical_list: D003062:Codon; D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins; D020962:Heterotrimeric GTP-Binding Proteins