2014
DOI: 10.1016/j.ajhg.2014.02.009
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Genetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa

Abstract: In humans, the ability to digest lactose, the sugar in milk, declines after weaning because of decreasing levels of the enzyme lactase-phlorizin hydrolase, encoded by LCT. However, some individuals maintain high enzyme amounts and are able to digest lactose into adulthood (i.e., they have the lactase-persistence [LP] trait). It is thought that selection has played a major role in maintaining this genetically determined phenotypic trait in different human populations that practice pastoralism. To identify varia… Show more

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Cited by 188 publications
(190 citation statements)
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References 84 publications
(208 reference statements)
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“…Adoption of food production and increasing mobility in northeastern Africa allowed prehistoric people to manage resource availability amid a drastically changing climate (1) and transformed local populations of people and animals. Saharan herders and hunters spread southward to the Sahel, reaching eastern Africa by 4.5 kya, and eventually reaching southern Africa with sheep and cattle around 2 kya (1)(2)(3)(4)(5)(6)(7)(8). The southern African data have been much debated, but recent genetic studies support at least limited movement of early herders from eastern to southern Africa (5,7).…”
mentioning
confidence: 99%
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“…Adoption of food production and increasing mobility in northeastern Africa allowed prehistoric people to manage resource availability amid a drastically changing climate (1) and transformed local populations of people and animals. Saharan herders and hunters spread southward to the Sahel, reaching eastern Africa by 4.5 kya, and eventually reaching southern Africa with sheep and cattle around 2 kya (1)(2)(3)(4)(5)(6)(7)(8). The southern African data have been much debated, but recent genetic studies support at least limited movement of early herders from eastern to southern Africa (5,7).…”
mentioning
confidence: 99%
“…Saharan herders and hunters spread southward to the Sahel, reaching eastern Africa by 4.5 kya, and eventually reaching southern Africa with sheep and cattle around 2 kya (1)(2)(3)(4)(5)(6)(7)(8). The southern African data have been much debated, but recent genetic studies support at least limited movement of early herders from eastern to southern Africa (5,7). Iron Age Bantu agriculturalist migrations and forager exchange processes also contributed to livestock spread.…”
mentioning
confidence: 99%
“…Numerosos estudos genéticos nas últimas décadas indicam que uma mutação (C-T/13910) é a principal responsável pela PL em populações europeias, enquanto outra mutação distinta (G-C/14010) está associada a ela em populações africanas 27 . Outras mutações relacionadas à PL, porém menos frequentes, têm sido descritas em populações europeias ou africanas 28 . Indivíduos portadores de um desses alelos, mesmo em heterozigose, também apresentam PL, que é uma característica do tipo dominante.…”
Section: Persistência Da Lactase Entre Populações Humanasunclassified
“…Embora ambas as mutações ocorram em regiões regulatórias do gene da lactase, seus mecanismos de ação sobre a transcrição desse gene parecem ser distintos [27][28][29][30] . Estudos in vitro sugerem diferentes mecanismos que resultam no fortalecimento da ligação de fatores de transcrição ao promotor do gene da lactase, aumentando a produção dessa enzima tanto no caso do alelo T-13910 quanto do C-14010 [28][29][30] A interrupção da produção de lactase no desmame é comum a todos os mamíferos conhecidos. Isso sugere ser esta uma condição ancestral, pois características compartilhadas por todas as espécies de um dado grupo taxonômico são ancestrais (estavam presentes no grupo mais antigo que deu origem a todas as espécies descendentes).…”
Section: Persistência Da Lactase Entre Populações Humanasunclassified
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