The origins of lactase persistence in Europe.
The origins of lactase persistence in Europe.
复制标题
欧洲乳糖酶持久性的起源。
DOI：
10.1371/journal.pcbi.1000491
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发表时间：
2009-08
影响因子：
4.3
通讯作者：
Thomas MG
中科院分区：
文献类型：
--
作者：
Itan Y;Powell A;Beaumont MA;Burger J;Thomas MG
乳糖酶持续性（LP）在欧洲血统的人群中很常见，但除了一些非洲、中东和南亚群体外，在世界其他地方很少见或不存在。在欧洲人（-13910 C/T）中与LP密切相关的一个多态性周围的乳糖酶基因单倍型保守性表明，衍生的等位基因起源较新，并受到了强烈的正选择。此外，古代DNA研究表明，-13910*T（衍生）等位基因在新石器时代早期的中欧人身上非常罕见或不存在。如果没有新鲜牛奶的供应，LP不太可能提供选择优势，这就导致了一种基因 - 文化协同进化模型，即乳糖酶持续性只有在从事乳制品业的文化中才受到青睐，而乳制品业在乳糖酶持续性人群中更受青睐。我们开发了一种灵活的人口计算机模拟模型，以探索乳糖酶持续性、乳制品业、其他生存方式以及不相关的遗传标记在欧洲和西亚地理空间中的传播。利用欧洲各地-13910*T等位基因频率和农业出现日期的数据，以及近似贝叶斯计算来估计感兴趣的参数，我们推断-13910*T等位基因大约在7500年前在巴尔干中部和中欧之间的一个地区的乳制品农民中首次受到选择，可能与新石器时代线性陶器文化在中欧的传播有关。此外，我们的结果表明，有利于乳糖酶持续性等位基因的自然选择在高纬度地区并没有因为对膳食维生素D需求的增加而更强。我们的结果提供了一个关于欧洲乳糖酶持续性和乳制品业协同进化的连贯且空间明确的图景。
世界上大多数成年人不产生乳糖酶这种酶，因此无法消化乳糖这种牛奶中的糖分。然而，欧洲的大多数人以及许多其他人群在其一生中都持续产生乳糖酶（乳糖酶持续性）。在欧洲，一个单一的基因变体-13910*T与乳糖酶持续性密切相关，并且似乎在过去的10000年中受到了自然选择的青睐。由于成年人只有在动物驯化之后才有可能食用新鲜牛奶，所以乳糖酶持续性很可能与乳制品业的文化实践共同进化，尽管不知道乳糖酶持续性在欧洲首次出现的时间以及是什么因素推动了它的快速传播。为了解决这些问题，我们开发了一个关于乳糖酶持续性、乳制品业和农民在欧洲传播的模拟模型，并使用新开发的统计方法整合了遗传和考古数据。我们推断乳糖酶持续性/乳制品业的协同进化大约在7500年前在巴尔干中部和中欧之间开始，可能是在线性陶器文化的人群中。我们还发现，乳糖酶持续性在高纬度地区并没有因为对膳食维生素D需求的增加而更受青睐。我们的结果说明了整合遗传和考古数据以解决人类进化重要问题的可能性。
Lactase persistence (LP) is common among people of European ancestry, but with the exception of some African, Middle Eastern and southern Asian groups, is rare or absent elsewhere in the world. Lactase gene haplotype conservation around a polymorphism strongly associated with LP in Europeans (−13,910 C/T) indicates that the derived allele is recent in origin and has been subject to strong positive selection. Furthermore, ancient DNA work has shown that the −13,910*T (derived) allele was very rare or absent in early Neolithic central Europeans. It is unlikely that LP would provide a selective advantage without a supply of fresh milk, and this has lead to a gene-culture coevolutionary model where lactase persistence is only favoured in cultures practicing dairying, and dairying is more favoured in lactase persistent populations. We have developed a flexible demic computer simulation model to explore the spread of lactase persistence, dairying, other subsistence practices and unlinked genetic markers in Europe and western Asia's geographic space. Using data on −13,910*T allele frequency and farming arrival dates across Europe, and approximate Bayesian computation to estimate parameters of interest, we infer that the −13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly in association with the dissemination of the Neolithic Linearbandkeramik culture over Central Europe. Furthermore, our results suggest that natural selection favouring a lactase persistence allele was not higher in northern latitudes through an increased requirement for dietary vitamin D. Our results provide a coherent and spatially explicit picture of the coevolution of lactase persistence and dairying in Europe. Most adults worldwide do not produce the enzyme lactase and so are unable to digest the milk sugar lactose. However, most people in Europe and many from other populations continue to produce lactase throughout their life (lactase persistence). In Europe, a single genetic variant, −13,910*T, is strongly associated with lactase persistence and appears to have been favoured by natural selection in the last 10,000 years. Since adult consumption of fresh milk was only possible after the domestication of animals, it is likely that lactase persistence coevolved with the cultural practice of dairying, although it is not known when lactase persistence first arose in Europe or what factors drove its rapid spread. To address these questions, we have developed a simulation model of the spread of lactase persistence, dairying, and farmers in Europe, and have integrated genetic and archaeological data using newly developed statistical approaches. We infer that lactase persistence/dairying coevolution began around 7,500 years ago between the central Balkans and central Europe, probably among people of the Linearbandkeramik culture. We also find that lactase persistence was not more favoured in northern latitudes through an increased requirement for dietary vitamin D. Our results illustrate the possibility of integrating genetic and archaeological data to address important questions on human evolution.
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影响因子：
9.8
作者：
Akey JM;Eberle MA;Rieder MJ;Carlson CS;Shriver MD;Nickerson DA;Kruglyak L
通讯作者：
Kruglyak L
影响因子：
9.8
作者：
Bersaglieri, T;Sabeti, PC;Hirschhorn, JN
通讯作者：
Hirschhorn, JN
影响因子：
5.3
作者：
Coelho, M;Luiselli, D;Rocha, J
通讯作者：
Rocha, J
DOI：
10.1017/s0079497x00014717
发表时间：
1965-01-01
期刊：
PROCEEDINGS OF THE PREHISTORIC SOCIETY
影响因子：
--
作者：
CLARK, JGD
通讯作者：
CLARK, JGD
DOI：
10.1073/pnas.83.9.2929
发表时间：
1986-05-01
影响因子：
11.1
作者：
AOKI, K
通讯作者：
AOKI, K