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BRIEF REPORT
From the Immunochemistry Laboratory, New York Blood
Center, New York, NY, and Institute of Medical Technology and Tampere
University Hospital, Finland.
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. This article has been cited by other articles:
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| Copyright © 2001 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||