A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep

Anim Genet. 2012 Aug;43(4):471-3. doi: 10.1111/j.1365-2052.2011.02275.x. Epub 2011 Oct 18.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ADAM Proteins / genetics*
  • ADAM Proteins / metabolism
  • Alleles
  • Animals
  • Codon, Nonsense / genetics*
  • Collagen Diseases / genetics
  • Collagen Diseases / veterinary*
  • Exons
  • Heterozygote
  • Homozygote
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Sheep / genetics
  • Sheep Diseases / genetics*
  • Sheep, Domestic / genetics*
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / veterinary*

Substances

  • Codon, Nonsense
  • ADAM Proteins