Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD

• Published in: American journal of human genetics Vol. 71; no. 5; pp. 1112 - 1128
• Main Authors: Verrelli, Brian C., McDonald, John H., Argyropoulos, George, Destro-Bisol, Giovanni, Froment, Alain, Drousiotou, Anthi, Lefranc, Gerard, Helal, Ahmed N., Loiselet, Jacques, Tishkoff, Sarah A.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.11.2002; University of Chicago Press; The American Society of Human Genetics
• Subjects: Africa South of the Sahara; African Continental Ancestry Group - genetics; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Errors of metabolism; Evolution, Molecular; Glucosephosphate Dehydrogenase - genetics; Humans; Immunity, Innate - genetics; Linkage Disequilibrium; Malaria - genetics; Medical sciences; Metabolic diseases; Molecular Sequence Data; Mutagenesis, Site-Directed; Phylogeny; Polymorphism, Genetic; Selection, Genetic; Sequence Analysis, DNA; Tropical medicine; Africa; Africa South of the Sahara; Pathogenesis; Biological evolution; Monkey; Hemopathy; Founder effect; Enzymopathy; Genetic determinism; Hemolytic anemia; Enzymatic activity; Primates; Human; Glucose-6-phosphate 1-dehydrogenase; Enzyme; Deficiency; Genetic variant; Metabolic diseases; Genotype; Ethnic group; Genetic disease; Vertebrata; Allele; Phenotype; Mammalia; Animal; Oxidoreductases; Comparative study

Glucose-6-phosphate dehydrogenase ( G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of the best examples of selection in the human genome. In the present study, we characterize the nucleotide diversity across a 5.2-kb region of G6...