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A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep
Author(s) -
Zhou H.,
Hickford J. G. H.,
Fang Q.
Publication year - 2012
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2011.02275.x
Subject(s) - biology , exon , genetics , breed , stop codon , gene , white (mutation) , microbiology and biotechnology , polymerase chain reaction
Summary 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.