Document Detail


Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.
MedLine Citation:
PMID:  11793484     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We identified seven novel polymorphisms in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Two of them are predicted to replace amino acid in LRP5 protein (c.314A>G: Q89R and c.4037T>C: V1330A), whereas three are silent mutations in the coding region (c.2268T>C: N740N, c.3405A>G: V1119V, and c.4137C>T: D1363D) and two are polymorphisms in introns (IVS10+6T>C and IVS17-30G>A). Since LRP5 recognizes apolipoprotein E and is genetically linked with type 1 diabetes, these novel polymorphisms will be useful in genetic studies of hyperlipoproteinemia and diabetes. To our knowledge, this is the first report in the literature of sequence variants in the human LRP5 gene.
Authors:
Minoru Okubo; Asako Horinishi; Dong-Ho Kim; Tokuo T Yamamoto; Toshio Murase
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human mutation     Volume:  19     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-01-16     Completed Date:  2002-03-05     Revised Date:  2011-02-02    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  186     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Department of Endocrinology and Metabolism, Okinaka Memorial Institute for Medical Research and Toranomon Hospital, Tokyo, Japan. QFG00550@nifty.ne.jp
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MeSH Terms
Descriptor/Qualifier:
DNA Mutational Analysis
Diabetes Mellitus / genetics
Exons / genetics
Gene Frequency / genetics
Genetic Testing
Humans
Hyperlipoproteinemias / genetics*
Introns / genetics
LDL-Receptor Related Proteins
Mutation / genetics*
Polymorphism, Genetic / genetics*
Polymorphism, Restriction Fragment Length
Receptors, LDL / genetics*
Chemical
Reg. No./Substance:
0/LDL-Receptor Related Proteins; 0/Receptors, LDL; 0/low density lipoprotein receptor-related protein 5

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


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