N34S mutation in the SPINK1 gene is not associated with alternative splicing

Pancreas

Volumn 34, Issue 4, 2007, Pages 423-428

  Masamune, Atsushi ^a   Kume, Kiyoshi ^a   Takagi, Yasuhiko ^a   Kikuta, Kazuhiro ^a   Satoh, Kennichi ^a   Satoh, Akihiko ^a   Shimosegawa, Tooru ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Alternative splicing; Exon skipping; Pancreatic secretory trypsin inhibitor; Pancreatitis; Serine protease inhibitor Kazal type 1; Trypsin

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHRONIC PANCREATITIS; DISEASE ASSOCIATION; FEMALE; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR CLONING; PANCREAS SURGERY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; RNA SPLICING; SERINE PROTEASE INHIBITOR KAZAL TYPE 1 GENE; WILD TYPE;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ASPARAGINE; BASE SEQUENCE; CARRIER PROTEINS; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PANCREATITIS, CHRONIC; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, PROTEIN; SERINE;

EID: 34248158166     PISSN: 08853177     EISSN: None     Source Type: Journal    
DOI: 10.1097/mpa.0b013e3180335fd0     Document Type: Article

References (32)

1. Lerch MM, Gorelick FS. Early trypsinogen activation in acute pancreatitis. Med Clin North Am. 2000;84:549-563.
2. Schneider A, Whitcomb DC. Hereditary pancreatitis: a model for inflammatory diseases of the pancreas. Best Pract Res Clin Gastroenterol. 2002;16:347-363.
3. Rinderknecht H. Activation of pancreatic zymogens. Normal activation, premature intrapancreatic activation, protective mechanisms against inappropriate activation. Dig Dis Sci. 1986;31:314-321.
4. Laskowski M Jr, Kato I. Protein inhibitors of proteinases. Annu Rev Biochem. 1980;49:593-626.
5. Horii A, Kobayashi T, Tomita N, et al. Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene. Biochem Biophys Res Commun. 1987;149:635-641.
6. Bartelt DC, Shapanka R, Greene LJ. The primary structure of the human pancreatic secretory trypsin inhibitor: amino acid sequence of the reduced S-aminoethylated protein. Arch Biochem Biophys. 1977;179:189-199.
7. Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1, are associated with chronic pancreatitis. Nat Genet. 2000;25:213-216.
8. Pfutzer RH, Barmada MM, Brunskill AP, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology. 2000;119:615-623.
9. Chen JM, Mercier B, Audrezet MP, et al. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis. Gastroenterology. 2001;120:1061-1064.
10. Kaneko K, Nagasuki Y, Furukawa T, et al. Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis. J Hum Genet. 2001;46:293-297.
11. Threadgold J, Greenhalf W, Ellis I, et al. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut. 2002;50:675-681.
12. Bhatia E, Choudhuri G, Sikora SS, et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology. 2002;123:1020-1025.
13. Kuwata K, Hirota M, Nishimori I, et al. Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan. J Gastroenterol. 2003;38:365-370.
14. Kume K, Masamune A, Mizutamari H, et al. Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis. Pancreatology. 2005;5:354-360.
15. Kuwata K, Hirota M, Shimizu H, et al. Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution. J Gastroenterol. 2002;37:928-934.
16. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003;21:577-581.
17. Nissim-Rafinia M, Kerem B. Splicing regulation as a potential genetic modifier. Trends Genet. 2002;18:123-127.
18. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419-437.
19. Kume K, Masamune A, Kikuta K, et al. [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. Gut. 2006;55:1214.
20. Truninger K, Ammann RW, Blum HE, et al. Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications. Swiss Med Wkly. 2001;131:565-574.
21. Masamune A, Mizutamari H, Kume K, et al. Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving the SPINK1 gene mutation N34S. Pancreas. 2004;28:305-310.
22. Teich N, Mossner J. Genetic aspects of chronic pancreatitis. Med Sci Monit. 2004;10:RA325-RA328.
23. Chu CS, Trapnell BC, Curristin S, et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993;3:151-156.
24. Ohmura M, Hirota M, Araki M, et al. Autophagic cell death of pancreatic acinar cells in serine protease inhibitor Kazal type 3-deficient mice. Gastroenterology. 2005;129:696-705.
25. Keim V. Mutations of the SPINK1 gene and their relation to chronic pancreatitis. Pancreatology. 2005;5:311.
26. Moyer BD, Balch WE. A new frontier in pharmacology: the endoplasmic reticulum as a regulated export pathway in health and disease. Expert Opin Ther Targets. 2001;5:165-176.
27. Whitcomb DC. Value of genetic testing in the management of pancreatitis. Gut. 2004;53:1710-1717.
28. Marchbank T, Chinery R, Hanby AM, et al. Distribution and expression of pancreatic secretory trypsin inhibitor and its possible role in epithelial restitution. Am J Pathol. 1996;148:715-722.
29. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001;68:598-605.
30. Kalinin VN, Kaifi JT, Schwarzenbach H, et al. Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients. World J Gastroenterol. 2006;12:5352-5356.
31. Snabboon T, Plengpanich W, Sridama V, et al. A SPINK1 gene mutation in a Thai patient with fibrocalculous pancreatic diabetes. Southeast Asian J Trop Med Public Health. 2006;37:559-562.
32. Le Marechal C, Chen JM, Le Gall C, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat. 2004;23:205.