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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations
Infection, Genetics and Evolution, Volume 10, No. 4, Year 2010
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Description
Polymorphisms within the open reading frame as well as the promoter and regulatory regions can influence the amount of CCR5 expressed on the cell surface and hence an individual's susceptibility to HIV-1. In this study we characterize CCR5 genes within the South African African (SAA) and Caucasian (SAC) populations by sequencing a 9.2. kb continuous region encompassing the CCR5 open reading frame (ORF), its two promoters and the 3′ untranslated region. Full length CCR5 sequences were obtained for 70 individuals (35 SAA and 35 SAC) and sequences were analyzed for the presence of single-nucleotide polymorphisms (SNPs), indels and intragenic haplotypes. A novel SNP (+258G/C) within the ORF leading to a non-synonomous amino acid (Trp → Cys) change was detected in one Caucasian individual. Results demonstrate a high degree of genetic variation: 68 SNP positions, four indels, as well as the Δ32 deletion mutant, were detected. Seven complex putative haplotypes spanning the length of the sequenced region have been identified. These haplotypes appear to be extensions of haplotypes previously described within CCR5. Two haplotypes, SAA-HHE and SAC-HHE were found in high frequency in the SAA and SAC population groups studied (20.0% and 18.6%, respectively) and share four SNP positions suggesting an evolutionary link between the two haplotypes. Only one of the identified haplotypes, SAA/C-HHC, is common to both study populations but the haplotype frequency differs markedly between the two groups (8.6% in SAA and 52.9% in SAC). The two population groups show differences in both haplotype arrangement as well as SNP profile. © 2010 Elsevier B.V.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2877777/bin/mmc1.doc
Authors & Co-Authors
Picton, Anabela C.P.
South Africa, Johannesburg
National Institute for Communicable Diseases
South Africa, Johannesburg
University of the Witwatersrand
Paximadis, Maria
South Africa, Johannesburg
National Institute for Communicable Diseases
Tiemessen, Caroline Tanya
South Africa, Johannesburg
National Institute for Communicable Diseases
South Africa, Johannesburg
University of the Witwatersrand
Statistics
Citations: 33
Authors: 3
Affiliations: 2
Identifiers
Doi:
10.1016/j.meegid.2010.02.012
ISSN:
15671348
Research Areas
Genetics And Genomics
Infectious Diseases
Study Design
Cross Sectional Study