Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Trypsin-1

The PRSS1 encodes trypsinogen which is secreted by the pancreas and activated in the small intestine. Mutations cause autosomal dominant hereditary pancreatitis.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hereditary pancreatic disease
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
PRSS1
SPINK1

References:

1.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

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2.

Tani T et. al. (1990) Nucleotide sequence of the human pancreatic trypsinogen III cDNA.

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3.

Emi M et. al. (1986) Cloning, characterization and nucleotide sequences of two cDNAs encoding human pancreatic trypsinogens.

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4.

None (1967) Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general?

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5.

Honey NK et. al. (1984) Chromosomal assignments of human genes for serine proteases trypsin, chymotrypsin B, and elastase.

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6.

Honey NK et. al. (1984) Chromosomal assignments of genes for trypsin, chymotrypsin B, and elastase in mouse.

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7.

Rinderknecht H et. al. (1984) Mesotrypsin: a new inhibitor-resistant protease from a zymogen in human pancreatic tissue and fluid.

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8.

MacDonald RJ et. al. (1982) Two similar but nonallelic rat pancreatic trypsinogens. Nucleotide sequences of the cloned cDNAs.

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9.

Scheele G et. al. (1981) Characterization of human exocrine pancreatic proteins by two-dimensional isoelectric focusing/sodium dodecyl sulfate gel electrophoresis.

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10.

Wiegand U et. al. (1993) Cloning of the cDNA encoding human brain trypsinogen and characterization of its product.

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11.

Rowen L et. al. (1996) The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.

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12.

Whitcomb DC et. al. (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

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13.

Gorry MC et. al. (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

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14.

Férec C et. al. (1999) Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

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15.

Sahin-Tóth M et. al. (1999) Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?

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16.

Chen JM et. al. (2000) Molecular basis of hereditary pancreatitis.

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17.

Chen JM et. al. (2000) Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.

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18.

Chen JM et. al. (2000) A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

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19.

Sahin-Tóth M et. al. (2000) Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.

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20.

Chen JM et. al. (2001) Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.

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21.

Teich N et. al. (2002) Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

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22.

Simon P et. al. (2002) Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis.

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23.

Chen JM et. al. (2003) "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.

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24.

Teich N et. al. (2004) Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

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25.

Teich N et. al. (2005) Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

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26.

Teich N et. al. (2006) Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

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27.

Le Maréchal C et. al. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus.

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28.

Masson E et. al. (2008) Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

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29.

Felderbauer P et. al. (2008) A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.

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30.

Kereszturi E et. al. (2009) Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.

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31.

Chauvin A et. al. (2009) Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

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32.

Szmola R et. al. (2010) Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

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Update: Sept. 26, 2018