Document Detail


A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
MedLine Citation:
PMID:  12417987     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Clinical and physiological investigations have not revealed the underlying cause of the disease. Currently, liver transplantation is the only effective therapy for patients with advanced disease. We previously identified the NAIC locus by homozygosity mapping to chromosome 16q22. Here we report that an exon 15 mutation in gene FLJ14728 (alias Cirhin) causes NAIC: c.1741C-->T in GenBank cDNA sequence NM_032830, found in all NAIC chromosomes, changes the conserved arginine 565 codon to a tryptophan, altering the predicted secondary structure of the protein. Cirhin is preferentially expressed in embryonic liver, is predicted to localize to mitochondria, and contains WD repeats, which are structural motifs frequently associated with molecular scaffolds.
Authors:
Pierre Chagnon; Jacques Michaud; Grant Mitchell; Jocelyne Mercier; Jean-François Marion; Eric Drouin; Andrée Rasquin-Weber; Thomas J Hudson; Andrea Richter
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Publication Detail:
Type:  Journal Article     Date:  2002-11-04
Journal Detail:
Title:  American journal of human genetics     Volume:  71     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-11-27     Completed Date:  2003-01-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1443-9     Citation Subset:  IM    
Affiliation:
Division of Medical Genetics, Hôpital Ste-Justine, Centre Hospitalier Universitaire Mère-Enfant, Université de Montréal, Québec, Canada.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AC009131;  AK022750;  X71490; OMIM/604901; RefSeq/NM_000196;  NM_000229;  NM_000353;  NM_000903;  NM_001793;  NM_002801;  NM_003789;  NM_003869;  NM_004555;  NM_004594;  NM_005182;  NM_005329;  NM_005652;  NM_006141;  NM_006565;  NM_006750;  NM_013245;  NM_014003;  NM_016101;  NM_018667;  NM_022341;  NM_030579;  NM_032830
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Motifs
Amino Acid Sequence
Animals
Base Sequence
Child
Cholestasis, Intrahepatic / genetics
Chromosomes, Human, Pair 16 / genetics
Conserved Sequence / genetics
DNA Mutational Analysis
Exons / genetics
Gene Expression Regulation, Developmental
Humans
In Situ Hybridization
Indians, North American / genetics*
Liver Cirrhosis / genetics*
Mice
Molecular Sequence Data
Mutation, Missense / genetics*
Protein Structure, Secondary
Proteins / analysis,  chemistry,  genetics*
Quebec
Saccharomyces cerevisiae Proteins / genetics
Chemical
Reg. No./Substance:
0/CIRH1A protein, human; 0/Proteins; 0/Saccharomyces cerevisiae Proteins
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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