title: A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep.
abstract: We have used polymerase chain reaction-single-strand conformational polymorphism analysis to investigate variation in exon 2 of the ADAM metalloproteinase with thrombospondin type I motif, 2 (ADAMTS2) gene in 598 sheep, including three white Dorper lambs that had a pathology consistent with dermatosparaxis. Four sequence variants (A, B, C and D) were identified at this exon, with the lambs having the dermatosparaxis phenotype being uniquely B homozygous and their mothers being B-containing heterozygous for ADAMTS2. Analysis of the amplified exon 2 sequences revealed the B variant had a nucleotide substitution that creates a premature stop codon and would notionally abbreviate the ADAMTS2 peptide. The B variant was not found in any other breed aside from the white Dorper sheep that were studied.
authors.affiliation: Gene-Marker Laboratory, Department of Agricultural Sciences, Lincoln University, New Zealand.
authors.forename: H
authors.initials: H
authors.lastname: Zhou
authors.forename: J G H
authors.initials: JG
authors.lastname: Hickford
authors.forename: Q
authors.initials: Q
authors.lastname: Fang
mesh_terms: D051722:ADAM Proteins / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D000818:Animals; D018389:Codon, Nonsense / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics / Q000662:veterinary*; D005091:Exons; D006579:Heterozygote; D006720:Homozygote; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D012756:Sheep / Q000235:genetics; D012757:Sheep Diseases / Q000235:genetics*; D034561:Sheep, Domestic / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics / Q000662:veterinary*
chemical_list: D018389:Codon, Nonsense; D051722:ADAM Proteins