title: A new deletion mutation in bovine Claudin-16 (CL-16) deficiency and diagnosis.
abstract: Bovine claudin-16/paracellin-1 (CL-16/PCLN-1) deficiency is an autosomal recessive disorder caused by a 37-kb deletion mutation containing the first four exons of the CL-16 gene, which leads to the absence of the CL-16 transcript (type-1 mutation). A PCR-based DNA test for the CL-16 mutation (type-1) was used to screen a herd of Wagyu cattle. A recent report suggested that affected cattle can be bred by dams diagnosed as normal, suggesting the presence of a new mutation in the CL-16 locus. We identified the new mutation as a 56-kb deletion containing exon-1 to -4 and 21-bp of exon-5 of CL-16, and refer to this as a type-2 mutation. A DNA test for specific for this mutation was then established.
authors.affiliation: Shirakawa Institute of Animal Genetics, Japan Livestock Technology Association, Odakura, Nishigo, Fukushima 961-8061, Japan. takashih@siag.or.jp
authors.forename: T
authors.initials: T
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Hirotsune
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Sugimoto
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D057167:Claudins; D005260:Female; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D057167:Claudins; D008565:Membrane Proteins; C502010:claudin 16