Literature DB >> 17072318

Hereditary pancreatitis caused by triplication of the trypsinogen locus.

Cédric Le Maréchal1, Emmanuelle Masson, Jian-Min Chen, Frédéric Morel, Philippe Ruszniewski, Philippe Levy, Claude Férec.   

Abstract

Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.

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Year:  2006        PMID： 17072318     DOI： 10.1038/ng1904

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  69 in total

Review 1.  Chymotrypsin C mutations in chronic pancreatitis.

Authors:  Jiayi Zhou; Miklós Sahin-Tóth
Journal:  J Gastroenterol Hepatol       Date:  2011-08       Impact factor: 4.029

2.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

3.  Strong purifying selection against gene conversions in the trypsin genes of primates.

Authors:  Nicholas Petronella; Guy Drouin
Journal:  Hum Genet       Date:  2012-06-30       Impact factor: 4.132

4.  Copy number variation of individual cattle genomes using next-generation sequencing.

Authors:  Derek M Bickhart; Yali Hou; Steven G Schroeder; Can Alkan; Maria Francesca Cardone; Lakshmi K Matukumalli; Jiuzhou Song; Robert D Schnabel; Mario Ventura; Jeremy F Taylor; Jose Fernando Garcia; Curtis P Van Tassell; Tad S Sonstegard; Evan E Eichler; George E Liu
Journal:  Genome Res       Date:  2012-02-02       Impact factor: 9.043

5.  Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Authors:  Maiken T Joergensen; Andrea Geisz; Klaus Brusgaard; Ove B Schaffalitzky de Muckadell; Péter Hegyi; Anne-Marie Gerdes; Miklós Sahin-Tóth
Journal:  Pancreas       Date:  2011-05       Impact factor: 3.327

6.  Germ-line DNA copy number variation frequencies in a large North American population.

Authors:  George Zogopoulos; Kevin C H Ha; Faisal Naqib; Sara Moore; Hyeja Kim; Alexandre Montpetit; Frederick Robidoux; Philippe Laflamme; Michelle Cotterchio; Celia Greenwood; Stephen W Scherer; Brent Zanke; Thomas J Hudson; Gary D Bader; Steven Gallinger
Journal:  Hum Genet       Date:  2007-07-19       Impact factor: 4.132

Review 7.  Genetic mechanisms underlying the pathogenesis of tropical calcific pancreatitis.

Authors:  Swapna Mahurkar; D Nageshwar Reddy; G Venkat Rao; Giriraj Ratan Chandak
Journal:  World J Gastroenterol       Date:  2009-01-21       Impact factor: 5.742

8.  Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Authors:  Heiko Witt; Sebastian Beer; Jonas Rosendahl; Jian-Min Chen; Giriraj Ratan Chandak; Atsushi Masamune; Melinda Bence; Richárd Szmola; Grzegorz Oracz; Milan Macek; Eesh Bhatia; Sandra Steigenberger; Denise Lasher; Florence Bühler; Catherine Delaporte; Johanna Tebbing; Maren Ludwig; Claudia Pilsak; Karolin Saum; Peter Bugert; Emmanuelle Masson; Sumit Paliwal; Seema Bhaskar; Agnieszka Sobczynska-Tomaszewska; Daniel Bak; Ivan Balascak; Gourdas Choudhuri; D Nageshwar Reddy; G Venkat Rao; Varghese Thomas; Kiyoshi Kume; Eriko Nakano; Yoichi Kakuta; Tooru Shimosegawa; Lukasz Durko; András Szabó; Andrea Schnúr; Péter Hegyi; Zoltán Rakonczay; Roland Pfützer; Alexander Schneider; David Alexander Groneberg; Markus Braun; Hartmut Schmidt; Ulrike Witt; Helmut Friess; Hana Algül; Olfert Landt; Markus Schuelke; Renate Krüger; Bertram Wiedenmann; Frank Schmidt; Klaus-Peter Zimmer; Peter Kovacs; Michael Stumvoll; Matthias Blüher; Thomas Müller; Andreas Janecke; Niels Teich; Robert Grützmann; Hans-Ulrich Schulz; Joachim Mössner; Volker Keim; Matthias Löhr; Claude Férec; Miklós Sahin-Tóth
Journal:  Nat Genet       Date:  2013-08-18       Impact factor: 38.330

9.  Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Authors:  Andrea Schnúr; Sebastian Beer; Heiko Witt; Péter Hegyi; Miklós Sahin-Tóth
Journal:  Gut       Date:  2013-03-01       Impact factor: 23.059

10.  Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Authors:  Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878
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