Worldwide distribution of the DCDC2 READ1 regulatory element and its relationship with phoneme variation across languages.
Worldwide distribution of the DCDC2 READ1 regulatory element and its relationship with phoneme variation across languages.
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DOI：
10.1073/pnas.1710472115
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发表时间：
2018-05-08
影响因子：
11.1
通讯作者：
Gruen JR
中科院分区：
文献类型：
--
作者：
DeMille MMC;Tang K;Mehta CM;Geissler C;Malins JG;Powers NR;Bowen BM;Adams AK;Truong DT;Frijters JC;Gruen JR
语言的快速发展是由于社会文化因素和受遗传因素影响的潜在语音过程之间的相互作用。DCDC 2与动物模型中语音处理系统的核心组件以及多个独立的人群和语言研究密切相关。为了表征与语音过程相关的遗传变异所产生的微妙语言差异，我们研究了DCDC 2中的调控元件READ 1与五大洲43个人群语言中的音素之间的关系。READ 1的变化与辅音的数量显著相关。我们的研究结果表明，微妙的认知偏见赋予不同的READ 1等位基因通过文化传播，形状辅音使用人群随着时间的推移被放大。DCDC 2是一种与动物模型中的语音处理系统组件以及多项独立的人群和语言研究密切相关的基因。我们建议，它也可能会影响人口水平的变化，在语言成分的使用。为了验证这一假设，我们研究了DCDC 2中READ 1调控元件的进化和全球分布，并将其分布与不同语言特性的变化进行了比较。READ 1的突变历史是通过检查灵长类动物和古人类基因序列来估计的。这鉴定了重复和扩增事件，其产生了大量基于内部重复单元（RU 1和RU 2）的多态等位基因。READ 1等位基因与分布在五大洲的43个人群中语言的辅音和元音数量的相关性进行了研究。使用基于人群的方法以及多变量ANCOVA和线性混合效应分析，我们发现READ 1的RU 1 -1等位基因组与语言中的辅音数量显着相关，而与遗传相关性、地理邻近性和语系无关。我们认为READ 1的等位基因变异有助于产生一种微妙的认知偏见，这种偏见被文化传播放大，并最终随着时间的推移塑造了不同人群的辅音使用。
Languages evolve rapidly due to an interaction between sociocultural factors and underlying phonological processes that are influenced by genetic factors. DCDC2 has been strongly associated with core components of the phonological processing system in animal models and multiple independent studies of populations and languages. To characterize subtle language differences arising from genetic variants associated with phonological processes, we examined the relationship between READ1, a regulatory element in DCDC2, and phonemes in languages of 43 populations across five continents. Variation in READ1 was significantly correlated with the number of consonants. Our results suggest that subtle cognitive biases conferred by different READ1 alleles are amplified through cultural transmission that shape consonant use by populations over time. DCDC2 is a gene strongly associated with components of the phonological processing system in animal models and in multiple independent studies of populations and languages. We propose that it may also influence population-level variation in language component usage. To test this hypothesis, we investigated the evolution and worldwide distribution of the READ1 regulatory element within DCDC2, and compared its distribution with variation in different language properties. The mutational history of READ1 was estimated by examining primate and archaic hominin sequences. This identified duplication and expansion events, which created a large number of polymorphic alleles based on internal repeat units (RU1 and RU2). Association of READ1 alleles was studied with respect to the numbers of consonants and vowels for languages in 43 human populations distributed across five continents. Using population-based approaches with multivariate ANCOVA and linear mixed effects analyses, we found that the RU1-1 allele group of READ1 is significantly associated with the number of consonants within languages independent of genetic relatedness, geographic proximity, and language family. We propose that allelic variation in READ1 helped create a subtle cognitive bias that was amplified by cultural transmission, and ultimately shaped consonant use by different populations over time.
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作者：
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