Studying 12 selected individuals from a malaria-endemic area in West Africa
, 24 variants of the CD36 gene were found, 21 of them novel ones. These inc
luded three single-nucleotide substitutions causing non, conservative amino
acid exchanges E123K, T174A, and I271T as well as a three base pair (bp) i
nsertion resulting in the addition of an asparagine residue (N232-233ins).
The E123K variant was located within the putative ligand-binding domain for
oxidized low density lipoprotein, while the other substitutions resided ou
tside any of the binding sites for reaction partners mapped on CD36 so far.
Twelve single-nucleotide polymorphisms (SNPs) were identified in untransla
ted parts of the exons and in introns. Five additional SNPs were located in
the promoter region whereby -144G-->T, -53G-->T, and -2A-->G alter putativ
e binding sites for the transcription factors purine factor (PuF), phorbol
ester-responsive element AP-2, and CCAAT/enhancer-binding protein. A G-->T
exchange at position -50 appears to introduce a new recognition site for Pu
F. Calculations of nucleotide diversity revealed extraordinarily high numbe
rs for all parts of the gene, which may, however, to some extent be due to
the selection of individuals studied. Hum Mutat 18:444-450, 2001. (C) 2001
Wiley-Liss, Inc.