An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig.

ABSTRACT: The immotile short-tail sperm defect is an autosomal recessive disease within the Finnish Yorkshire pig population. This disease specifically affects the axoneme structure of sperm flagella, whereas cilia in other tissues appear unaffected. Recently, the disease locus was mapped to a 3-cM region on porcine chromosome 16. To facilitate identification of candidate genes, we constructed a porcine-human comparative map, which anchored the disease locus to a region on human chromosome 5p13.2 containing eight annotated genes. Sequence analysis of a candidate gene KPL2 revealed the presence of an inserted retrotransposon within an intron. The insertion affects splicing of the KPL2 transcript in two ways; it either causes skipping of the upstream exon, or causes the inclusion of an intronic sequen

SUBMITTER: Sironen A 

PROVIDER: S-EPMC1458785 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature