An immotile short tail sperm defect (ISTS) has been identified as a hereditary disorder within the Finnish Yorkshire population. The defect is exclusively expressed in male individuals as short tailed and immotile spermatozoa. Homozygosity mapping and haplotype analysis located the ISTS associated gene to porcine chromosome 16 within a 3 cM region proximal to SW419. Two disease associated markers were selected to be used for MAS. Further, fine-mapping located the causative mutation to an interval corresponding to 1,158 Kbp on human chromosome 5, containing 8 annotated genes. In one of these genes, KPL2, a retrotransposon within an intron in homozygous affected boars leads to aberrant splicing in testicular tissue. Based on the insertion sequence a 100% reliable DNA-test was developed for gene assisted selection.

A. Sironen, B. Thomsen, P. Karttunen, M. Andersson, V. Ahola, J. Vilkki

Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume , , 22.04, 2006
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