Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers.

Abstract

OBJECTIVE:

To evaluate the serine protease inhibitor, Kazal type 1 (SPINK1) gene for variants and to determine their possible association with pancreatitis in Miniature Schnauzers.

ANIMALS:

39 Miniature Schnauzers with pancreatitis, 25 healthy Miniature Schnauzers, and 23 healthy dogs of other breeds.

PROCEDURES:

The entire canine SPINK1 gene with its intron-exon boundaries was initially sequenced in 22 Miniature Schnauzers. Then, 2 regions of the gene were sequenced in 65 additional canine DNA samples at the locations of variants identified in the initial sequencing of the entire SPINK1 gene.

RESULTS:

Analysis of the SPINK1 gene in Miniature Schnauzers revealed 3 closely associated variants in healthy Miniature Schnauzers and Miniature Schnauzers with pancreatitis. These variants consisted of 2 missense mutations in the second exon (N20K and N25T) and a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11). Pancreatitis was significantly associated with homozygous alleles for these 3 variants in Miniature Schnauzers. In healthy dogs of other breeds, only the 2 exon variants were identified.

CONCLUSIONS AND CLINICAL RELEVANCE:

Variants of the SPINK1 gene may be associated with the development of pancreatitis in Miniature Schnauzers.

• Authors: Micah A Bishop, Panagiotis G Xenoulis, Melinda D Levinski, Jan S Suchodolski, Jörg M Steiner
• Journal: American journal of veterinary research (Am J Vet Res) Vol. 71 Issue 5 Pg. 527-33 (May 2010) ISSN: 0002-9645 [Print] United States
• PMID: 20433378 (Publication Type: Journal Article)

Chemical References

• Carrier Proteins
• DNA Primers
• Intercellular Signaling Peptides and Proteins
• SPINK1 protein, human
• Serine Proteinase Inhibitors
• Trypsin Inhibitor, Kazal Pancreatic
• Lipase

Topics

• Amino Acid Sequence
• Animals
• Base Sequence
• Carrier Proteins (chemistry, genetics)
• DNA Primers
• Dog Diseases (genetics)
• Dogs
• Exons (genetics)
• Genetic Variation
• Humans
• Intercellular Signaling Peptides and Proteins (chemistry, genetics)
• Introns (genetics)
• Lipase (genetics)
• Molecular Sequence Data
• Pancreatitis (genetics, veterinary)
• Sequence Alignment
• Sequence Homology, Amino Acid
• Serine Proteinase Inhibitors (genetics)
• Trypsin Inhibitor, Kazal Pancreatic