Hereditary pancreatitis caused by triplication of the trypsinogen locus

Hereditary pancreatitis caused by triplication of the trypsinogen locus

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 ∼605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This tri...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nature genetics 2006-12, Vol.38 (12), p.1372-1374
Hauptverfasser: Le Maréchal, Cédric, Masson, Emmanuelle, Chen, Jian-Min, Morel, Frédéric, Ruszniewski, Philippe, Levy, Philippe, Férec, Claude
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Aged
Aged, 80 and over
Agriculture
Animal Genetics and Genomics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
brief-communication
Cancer Research
Causes of
Chromosomes
Chromosomes, Human, Pair 7 - genetics
Female
Fundamental and applied biological sciences. Psychology
Gastroenterology. Liver. Pancreas. Abdomen
Gene Dosage
Gene Duplication
Gene Function
Gene mutations
Genetic aspects
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Health aspects
Heredity
Human Genetics
Humans
In Situ Hybridization, Fluorescence
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Mutation
Other diseases. Semiology
Pancreas
Pancreatitis
Pancreatitis - enzymology
Pancreatitis - genetics
Pedigree
Physiological aspects
Proteins
Trypsin
Trypsinogen
Trypsinogen - genetics
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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 ∼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.
ISSN:1061-4036
1546-1718
DOI:10.1038/ng1904