| A homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression. | |
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MedLine Citation:
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PMID: 11369664 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genetic variations in the CC chemokine receptor (CCR5) leading to reduced or absent expression are associated with resistance to human immunodeficiency virus infection and delayed onset of acquired immunodeficiency syndrome. Similarly, lack of the red-cell chemokine receptor Duffy confers protection against malarial infection by Plasmodium vivax. Investigators have previously described a missense mutation (R89C) in the first intracellular loop of Duffy that results in reduced protein expression. The present study shows that the lower Duffy expression is due to loss of the positive charge at this position, resulting in protein instability. Moreover, R60S, a mutation in the first intracellular loop of CCR5 noted in a recent cohort study, likewise results in reduced surface expression and function of CCR5. The presence of a homologous, naturally occurring mutation that may be protective against disease thus defines a novel mechanism accounting for the decreased expression of these receptors in some individuals. (Blood. 2001;97:3651-3654) |
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Authors:
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D Tamasauskas; V Powell; K Saksela; K Yazdanbakhsh |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Blood Volume: 97 ISSN: 0006-4971 ISO Abbreviation: Blood Publication Date: 2001 Jun |
Date Detail:
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Created Date: 2001-05-22 Completed Date: 2001-06-28 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 3651-4 Citation Subset: AIM; IM |
Affiliation:
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Immunochemistry Laboratory, New York Blood Center, 310 East 67th St., New York, NY 10021, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Antigens, Protozoan* Calcium / metabolism Carrier Proteins / genetics*, physiology Cell Line Duffy Blood-Group System / genetics*, physiology Gene Expression* HIV-1 / physiology Humans Immunoblotting Malaria / prevention & control Mutagenesis, Site-Directed Mutation* Protozoan Proteins* Receptors, CCR5 / genetics*, physiology Receptors, Cell Surface / genetics*, physiology Transfection |
| Grant Support | |
ID/Acronym/Agency:
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HL54459/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Antigens, Protozoan; 0/Carrier Proteins; 0/Duffy Blood-Group System; 0/Duffy antigen binding protein, Plasmodium; 0/Protozoan Proteins; 0/Receptors, CCR5; 0/Receptors, Cell Surface; 7440-70-2/Calcium |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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