Transcript variants, expression, and polymorphisms of the pig prosaposin gene.

Prosaposin (PASP) is a sphingolipid hydrolysis protein that plays roles in both the nervous and reproduction systems. In this study, we cloned the pig PASP gene and studied its genomic organization, polymorphism, and expression pattern. Two PASP transcripts, TV1 (HQ245644) and TV2 (HQ245646), were identified in pig. TV1 was the complete transcript that encoded 527 amino acids, whereas TV2 was 9 bp shorter due to an exon 8 deletion. The pig PASP gene spanned over 34 kb in length on chromosome 14 (SSC14), and consisted of 15 exons and 14 introns. The pig PASP gene (TV1 and TV2) expressed predominantly in the cerebellum, lymphnode, pituitary, abdominal fat, hypothalamus, and cerebrum in both females and males. PASP TV1 expressed mainly in teh cerebrum, cerebellum, hypothalamus, pituitary, heart, subcutaneous fat, and foreleg muscle, while TV2 was expressed in the liver, spleen, lung, kidney, and lymphnode. In foreleg muscle, the predominant transcript was TV2 in males and TV1 in females. Some potential transcriptional elements were predicted in 5' flanking region (~3000 bp) of the PASP gene, and they were TATA boxes, RORE, Sp1, SRY, oct-1, Cdx A, and cap. Additionally, we identified 68 single-nucleotide polymorphisms and 9 indels in the pig PASP gene, and three single-nucleotide polymorphisms (C77932320T or L15F; C77928094T or P191L; A77917401G or K522R) were nonsynonymous substitutions. These results provide useful information for future functional investigations of the pig PASP gene.

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