| The FIC1 gene: structure and polymorphisms in baboon. | |
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MedLine Citation:
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PMID: 12076045 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A genome scan performed on 648 pedigreed baboons to detect and localize quantitative trait loci (QTL) for lipoprotein phenotypes that are known risk factors for atherosclerosis indicated the presence of a QTL on chromosome 18q that exerts a major influence on HDL-cholesterol (HDL-C) related phenotypes. Inspection of the human gene map revealed that the familial intrahepatic cholestatis gene 1 (FIC1) maps to the homologous region of baboon chromosome 18 containing the major QTL influencing HDL-C phenotypes. FIC1 is a strong biological candidate for this QTL because HDL-C is the preferred precursor for bile acid synthesis. In this study, we cloned and sequenced FIC1 cDNA and found that it is highly conserved between human and baboon. We also sequenced FIC1 cDNAs from a panel of unrelated baboons revealing single nucleotide polymorphisms (SNPs) and a polymorphic dinucleotide repeat. None of the baboon SNPs corresponded to human FIC1 mutations associated with familial intrahepatic cholestasis or benign recurrent intrahepatic cholestasis disorders. |
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Authors:
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Laura A Cox |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of medical primatology Volume: 31 ISSN: 0047-2565 ISO Abbreviation: J. Med. Primatol. Publication Date: 2002 Feb |
Date Detail:
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Created Date: 2002-06-21 Completed Date: 2002-10-08 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0320626 Medline TA: J Med Primatol Country: Denmark |
Other Details:
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Languages: eng Pagination: 17-28 Citation Subset: IM |
Affiliation:
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Southwest Foundation for Biomedical Research, Department of Genetics, San Antonio, TX 78245-0549, USA. lcox@darwin.sfbr.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphatases
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genetics* Amino Acid Sequence Animals Arteriosclerosis / genetics, veterinary Base Sequence Cholesterol, HDL / genetics* DNA Primers DNA, Complementary / genetics Molecular Sequence Data Papio / genetics* Pedigree Polymerase Chain Reaction / veterinary Polymorphism, Single Nucleotide* |
| Grant Support | |
ID/Acronym/Agency:
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P01 HL28972/HL/NHLBI NIH HHS; P51 RR13986/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Cholesterol, HDL; 0/DNA Primers; 0/DNA, Complementary; EC 3.6.1.-/Adenosine Triphosphatases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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