Book contents
- The Genetics of African Populations in Health and Disease
- Cambridge Studies in Biological and Evolutionary Anthropology
- The Genetics of African Populations in Health and Disease
- Copyright page
- Contents
- Contributors
- 1 Reflections on Conceptualizing Africa for Biological Studies with a Historical Component
- 2 History and Genetics in Africa
- 3 Disease, Selection, and Evolution in the African Landscape
- 4 Genetic Susceptibility to Visceral Leishmaniasis
- 5 Genetics of Infection in Sub-Saharan Africa
- 6 Pharmacogenomics and Infectious Diseases in Africa
- 7 A Glimpse into Pharmacogenomics in Africa
- 8 Genomics of Cardiometabolic Disorders in Sub-Saharan Africa
- 9 Breast Cancer in African Populations
- 10 Sociobiological Transition and Cancer
- 11 The Genetic Epidemiology of Orphan Diseases in North Africa
- 12 Birth Defects and Genetic Disease in Sub-Saharan Africa
- 13 Neurogenetic Disorders in Africa: Hereditary Spastic Paraplegia
- 14 Enabling Genomic Revolution in Africa
- Index
- References
3 - Disease, Selection, and Evolution in the African Landscape
Published online by Cambridge University Press: 02 December 2019
Book contents
- The Genetics of African Populations in Health and Disease
- Cambridge Studies in Biological and Evolutionary Anthropology
- The Genetics of African Populations in Health and Disease
- Copyright page
- Contents
- Contributors
- 1 Reflections on Conceptualizing Africa for Biological Studies with a Historical Component
- 2 History and Genetics in Africa
- 3 Disease, Selection, and Evolution in the African Landscape
- 4 Genetic Susceptibility to Visceral Leishmaniasis
- 5 Genetics of Infection in Sub-Saharan Africa
- 6 Pharmacogenomics and Infectious Diseases in Africa
- 7 A Glimpse into Pharmacogenomics in Africa
- 8 Genomics of Cardiometabolic Disorders in Sub-Saharan Africa
- 9 Breast Cancer in African Populations
- 10 Sociobiological Transition and Cancer
- 11 The Genetic Epidemiology of Orphan Diseases in North Africa
- 12 Birth Defects and Genetic Disease in Sub-Saharan Africa
- 13 Neurogenetic Disorders in Africa: Hereditary Spastic Paraplegia
- 14 Enabling Genomic Revolution in Africa
- Index
- References
Summary
Africa’s geographic location may have dictated its predestination as a climate refuge and the scene of consecutive chapters of biological adaptive radiation throughout time. The continent is still home to some of the most spectacular forms of biodiversity on the globe, and is believed to be the stage for the heroic, perhaps rather tragic, early chapter of human evolution. These distinctive features invite a renewed investigation and interpretation of this epic saga.
- Type
- Chapter
- Information
- Publisher: Cambridge University PressPrint publication year: 2019
References
Amin, M, Elhassan, A, Rocket, K, et al. (2015). Overdominance effects between malaria and visceral leishmaniasis in the 5q31 region. J Biol Sci 15(4): 221–226.Google Scholar
Andersen, KG, Shylakhter, I, Tabrizi, S, et al. (2012). Genome-wide scans provide evidence for positive selection of genes implicated in Lassa fever. Philos Trans R Soc B Biol Sci 367: 868–877.CrossRefGoogle ScholarPubMed
Atkinson, QD (2011). Phonemic diversity supports a serial founder effect model of language expansion from Africa. Science 332: 346–348.Google Scholar
Bains, RK, Kovencuric, M, Plaster, CA, et al. (2013). Molecular diversity and population structure at the cytochrome P450 3A5 gene in Africa. BMC Genet 3: 14–34.Google Scholar
Barreiro, LB, Laval, G, Quach, H, Patin, E, and Quintana-Murci, L (2008). Natural selection has driven population differentiation in modern humans. Nat Genet 40(3): 340–345.CrossRefGoogle ScholarPubMed
Bereir, RE, Hassan, HY, Salih, NA, et al. (2007). Co-introgression of Y-chromosome haplogroups and the sickle cell gene across Africa's Sahel. Eur J Hum Genet 15(11): 1183–1185.Google Scholar
Bhatia, G, Patterson, N, Pasaniuc, B, et al. (2011). Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. Am J Hum Genet 89(3): 368–381.CrossRefGoogle ScholarPubMed
Browning, SL, Tarekegn, A, Bekele, E, Bradman, N, and Thomas, MG (2010). CYP1A2 is more variable than previously thought: a genomic biography of the gene behind the human drug-metabolizing enzyme. Pharmacogenet Genomics 20(11): 647–664.Google Scholar
Canossi, A, Piancatelli, D, Aureli, A, et al. (2010). Correlation between genetic HLA class I and II polymorphisms and anthropological aspects in the Chaouya population from Morocco (Arabic speaking). Tissue Antigens 76: 177–193.Google Scholar
Cavalli-Sforza, LL (1997). Genes, peoples, and languages. Proc Natl Acad Sci U S A 94: 7719–7724.Google Scholar
Černý, V, Pereira, L, Musilová, E, et al. (2011). Genetic structure of pastoral and farmer populations in the African Sahel. Mol Biol Evol 28(9): 2491–2500.Google Scholar
Chiaroni, J, Underhill, PA, and Cavalli-Sforza, LL (2009). Y chromosome diversity, human expansion, drift, and cultural evolution. PNAS 106(48): 20174–20179.Google Scholar
Cohn, SK Jr. and Weaver, LT (2006). The Black Death and AIDS: CCR5-Δ32 in genetics and history. QJM l076: 497–503.Google Scholar
Colares, VS, Titan, SMO, Pereira, AC, et al. (2014). MYH9 and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population. PLoS One 9(3): e87716.Google Scholar
Crellen, T, Allan, F, David, S, et al. (2016). Whole genome resequencing of the human parasite Schistosomamansoni reveals population history and effects of selection. Sci Reports 6: 20954.Google Scholar
de Magalhaes, JP and Matsuda, A (2012). Genome-wide patterns of genetic distances reveal candidate loci contributing to human population-specific traits. Ann Hum Genet 76: 142–158.Google Scholar
Deshpande, O, Batzoglou, S, Feldman, MW, and Cavalli-Sforza, LL (2009). A serial founder effect model for human settlement out of Africa. Proc Biol Sci 276(1655): 291–300.Google Scholar
Eid, NA, Hussein, AA, Elzein, AM, et al. (2010). Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. Malar J 9: 119.Google Scholar
Elhassan, N, Gebremeskel, EI, Elnour, MA, et al. (2014). The episode of genetic drift defining the migration of humans out of Africa is derived from a large East African population size. PloS One 9: e97674.Google Scholar
Eyre-Walker, A (2002). Changing effective population size and the McDonald–Kreitman test. Genetics 162(4): 2017–2024.Google Scholar
Fort, J and Pérez-Losada, J (2016). Can a linguistic serial founder effect originating in Africa explain the worldwide phonemic cline? J R Soc Interface 117. pii: 20160185.Google Scholar
Gebremeskel, EI and Ibrahim, ME (2014). Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism. Eur J Hum Genet 12: 1387–1392.CrossRefGoogle Scholar
Gluckman, PD and Hanson, MA (2006). Evolution, development and timing of puberty. Trends Endocrinol Metab 17(1): 7–12.CrossRefGoogle ScholarPubMed
Godfrey, KM, Lillycrop, KA, Burdge, GC, Gluckman, PD, and Hanson, MA (2007). Epigenetic mechanisms and the mismatch concept of the developmental origins of health and disease. Pediatr Res 61(5 Pt 2): 5R–10R.Google Scholar
González-Santos, M, Montinaro, F, Oosthuizen, O, et al. (2015). Genome-wide SNP analysis of Southern African populations provides new insights into the dispersal of Bantu-speaking groups. Genome Biol Evol 7(9): 2560–2568.Google Scholar
Hassan, HY, Underhill, PA, Cavalli-Sforza, LL, Ibrahim, ME (2008). Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history. Am J Phys Anthropol 137: 316–323.Google Scholar
Heijmans, BT, Tobi, EW, Stein, AD, et al. (2008). Persistent epigenetic differences associated with prenatal exposure to famine in humans. PNAS 105(44): 17046–17049.Google Scholar
Heijmans, BT, Tobi, EW, Lumey, LH, and Slagboom, PE (2009). The epigenome: archive of the prenatal environment. Epigenetics 4(8): 526–531.Google Scholar
Hirshfield, KM, Rebbeck, TR, and Levine, AJ (2010). Germline mutations and polymorphisms in the origins of cancers in women. J Oncol. DOI: 10.1155/2010/297671.CrossRefGoogle ScholarPubMed
Horsfall, LJ, Zeitlyn, D, Tarekegn, A, et al. (2011). Prevalence of clinically relevant UGT1A alleles and haplotypes in African populations. Ann Hum Genet 75: 236–246.Google Scholar
Ibrahim, M and Amin, M (2015). Population genetics in Sudan. Khartoum Med J 8(2): 1095–1098.Google Scholar
Ibrahim, ME and Barker, DC (2001). The origin and evolution of the Leishmania donovani complex as inferred from a mitochondrial cytochrome oxidase II gene sequence. Infect Genet Evol 1: 61–68.Google Scholar
Ingram, CJE, Raga, TO, Tarekegn, A, et al. (2009). Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. J Mol Evol 69: 579–588.CrossRefGoogle Scholar
Jallow, M, Teo, YY, Small, KS, et al. (2009). Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 41: 657–665.Google Scholar
Jin, W, Qin, P, Lou, H, Jin, L, and Xu, S (2012). A systematic characterization of genes underlying both complex and Mendelian diseases. Hum Mol Genet 21(7): 1611–1624.Google Scholar
Keinan, A, Mullikin, JC, Patterson, N, and Reich, D (2009). Accelerated genetic drift on chromosome X during the human dispersal out of Africa. Nat Genet 41(1): 66–70.Google Scholar
Kristensen, TN, Hoffmann, AA, Pertoldi, C, and Stronen, AV (2015). What can livestock breeders learn from conservation genetics and vice versa? Front Genet 6: 38.Google Scholar
Lappalainen, T, Sammeth, M, Friedländer, MR, et al. (2013). Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501(7468): 506–511.CrossRefGoogle ScholarPubMed
Libert, F, Cochaux, P, Beckman, G, et al. (1998). The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet 7(3): 399–406.Google Scholar
Marmor, M, Hertzmark, K, Thomas, SM, Halkitis, PN, and Vogler, M (2006). Resistance to HIV infection. J Urban Health 83(1): 5–17.Google Scholar
Martin, AO, Kurczynski, TW, and Steinberg, AG (1973). Familial studies of medical and anthropometric variables in a human isolate. Am J Hum Genet 25(6): 581–593.Google Scholar
Miller, M, Fadl, M, Mohamed, HS, et al. (2007). Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan. PloS Genet 3: 679–688.Google Scholar
Modiano, D, Luoni, G, Sirima, BS, et al. (2001). The lower susceptibility to Plasmodium falciparum malaria of Fulani of Burkina Faso (West Africa) is associated with low frequencies of classic malaria-resistance genes. Trans R Soc Trop Med Hyg 95(2): 149–152.Google Scholar
Mohammed, AO, Attalla, B, Bashir, FM, et al. (2006). Relationship of the sickle cell gene to the ethnic and geographic groups populating the Sudan. Community Genet 9(2): 113–120.Google Scholar
Morabia, A and Abel, T (2006). The WHO report “Preventing Chronic Diseases: a vital investment” and us. Soz Praventivmed 51: 74.Google Scholar
Moreno-Estrada, A-PE, Sikora, EJ, Ramírez-Soriano, CF, and Bosch, E (2010). African signatures of recent positive selection in human FOXI1. BMC Evol Biol 10: 267.Google Scholar
Murphy, AB, Kelley, B, Nyame, YA, et al. (2012). Predictors of serum vitamin D levels in African American and European American men in Chicago. Am J Mens Health 6(5): 420–426.Google Scholar
Murray, CJL and Lopez, AD (1997). Mortality by cause for eight regions of the world: Global Burden of Disease Study. Lancet 349: 1269–1276.Google Scholar
Nakagome, S, Mano, S, Kozlowski, L, et al. (2012). Crohn’s disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation. Mol Biol Evol 29(6): 1569–1585.Google Scholar
Oleksyk, TK, Nelson, GW, An, P, Kopp, JB, and Winkler, CA (2010). Worldwide distribution of the MYH9 kidney disease susceptibility alleles and haplotypes: evidence of historical selection in Africa. PloS One 5(7): e11474.CrossRefGoogle ScholarPubMed
Orr, HA (2009). Fitness and its role in evolutionary genetics. Nat Rev Genet 10(8): 531.Google Scholar
Perea, WA, Moren, A, Ancelle, T, and Sondorp, E (1989). Epidemic visceral leishmaniasis in southern Sudan. Lancet 2(8673): 1222–1223.CrossRefGoogle ScholarPubMed
Poloni, ES, Naciri, Y, Bucho, R, et al. (2009). Genetic evidence for complexity in ethnic differentiation and history in East Africa. Ann Hum G 73: 582–600.CrossRefGoogle ScholarPubMed
Pulanić, D, Polasek, O, Petrovecki, M, et al. (2008). Effects of isolation and inbreeding on human quantitative traits: an example of biochemical markers of hemostasis and inflammation. Hum Biol 80(5): 513–533.Google Scholar
Quintana-Murci, L, Alcais, A, Abel, L, and Casanova, JL (2007). Immunology in natural selection: clinical, epidemiological and evolutionary genetics of infectious disease. Nat Immunol Disease 18: 1165–1171.Google Scholar
Qutob, N, Balloux, F, Raj, T, et al. (2012). Signatures of historical demography and pathogen richness on MHC class I genes. Immunogenetics 64(3): 165–175.Google Scholar
Ramaley, PA, French, N, Kaleebu, P, et al. (2002). HIV in Africa: chemokine-receptor genes and AIDS risk. Nature 417(6885): 140.Google Scholar
Ranciaro, A, Campbell, MC, Hirbo, JB, et al. (2014). Genetic origins of lactase persistence and the spread of pastoralism in Africa. Am J Hum Genet 94: 496–510.Google Scholar
Reich, DE, Cargill, M, Bolk, S, et al. (2001). Linkage disequilibrium in the human genome. Nature 411(6834): 199–204.Google Scholar
Salih, NA, Hussain, AA, Almugtaba, IA, et al. (2010). Loss of balancing selection in the beta S globin locus. BMC Med Genet 11: 21.Google Scholar
Sati, MH (1958). Early phases of an outbreak of kala-azar in the Southern Fung. Sudan Medical Journal 1: 98–111.Google Scholar
Sobota, RS, Stein, CM, Kodaman, N, et al. (2016). A locus at 5q33.3 confers resistance to tuberculosis in highly susceptible individuals. Am J Hum Genet 98(3): 514–524.Google Scholar
Stephens, JC, Reich, DE, Goldstein, DB, et al. (1998). Dating the origin of the CCR5-Δ32 AIDS-resistance allele by coalescence of haplotypes. Am J Hum Genet 62: 1507–1515.Google Scholar
Stover, PJ (2006). Influence of human genetic variation on nutritional requirements. Am J Clin Nutr 83: 436S–442S.Google Scholar
Stover, PJ and Caudill, MA (2008). Genetic and epigenetic contributions to human nutrition and health: managing genome–diet interactions. J Am Diet Assoc 108: 1480–1487.Google Scholar
Tenesa, A, Navarro, P, Hayes, BJ, et al. (2007). Recent human effective population size estimated from linkage disequilibrium. Genome Res 17: 520–526.Google Scholar
Tishkoff, SA, Reed, FA, Friedlaender, FR, et al. (2009). The genetic structure and history of Africans and African Americans. Science 324: 1035–1044.Google Scholar
Tobi, EW, Lumey, LH, Talens, RP, et al. (2009). DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific. Epigenetics 4(8): 526–531.Google Scholar
Tuli, AM, Valenzuela, RK, Kamugisha, E, and Brilliant, MH (2012). Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? Med Hypotheses 79(6): 875–878.Google Scholar
Van Crevel, R, Ottenhoff, TH, and van der Meer, JW (2002). Innate immunity to Mycobacterium tuberculosis. Clin Microbiol Rev 15(2): 294–309.Google Scholar
Wong, SH, Gochhait, S, Malhotra, D, et al. (2010). Leprosy and the adaptation of Human Toll-Like Receptor 1. PloS Pathog 6: e1000979. DOI: 10.1371/journal.ppat.1000979.Google Scholar
- 1
- Cited by