
doi: 10.1002/humu.1215
pmid: 11668637
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 included three single-nucleotide substitutions causing non-conservative amino acid exchanges E123K, T174A, and I271T as well as a three base pair (bp) insertion 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 outside any of the binding sites for reaction partners mapped on CD36 so far. Twelve single-nucleotide polymorphisms (SNPs) were identified in untranslated 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 putative 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 PuF. Calculations of nucleotide diversity revealed extraordinarily high numbers for all parts of the gene, which may, however, to some extent be due to the selection of individuals studied.
Adult, CD36 Antigens, DNA Mutational Analysis, Mutation, Missense, Genetic Variation, Exons, Response Elements, Ghana, Polymorphism, Single Nucleotide, Introns, Malaria, Mutagenesis, Insertional, Child, Preschool, Mutation, Humans, Child, Promoter Regions, Genetic, Polymorphism, Restriction Fragment Length, Spleen
Adult, CD36 Antigens, DNA Mutational Analysis, Mutation, Missense, Genetic Variation, Exons, Response Elements, Ghana, Polymorphism, Single Nucleotide, Introns, Malaria, Mutagenesis, Insertional, Child, Preschool, Mutation, Humans, Child, Promoter Regions, Genetic, Polymorphism, Restriction Fragment Length, Spleen
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 15 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Average | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
