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影响人类音高的序列变异。

Sequence variants affecting voice pitch in humans.

机构信息

deCODE Genetics/Amgen Inc., Sturlugata 8, 101 Reykjavik, Iceland.

Department of Icelandic and Comparative Cultural Studies, University of Iceland, Saemundargata 2, 102 Reykjavik, Iceland.

出版信息

Sci Adv. 2023 Jun 9;9(23):eabq2969. doi: 10.1126/sciadv.abq2969.

Abstract

The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in speech recordings from 12,901 Icelanders. We show how voice pitch and vowel acoustics vary across the life span and correlate with anthropometric, physiological, and cognitive traits. We found that voice pitch and vowel acoustics have a heritable component and discovered correlated common variants in that associate with voice pitch. The variants also associate with adrenal gene expression and cardiovascular traits. By showing that voice and vowel acoustics are influenced by genetics, we have taken important steps toward understanding the genetics and evolution of the human vocal system.

摘要

人类发声系统的遗传基础在很大程度上是未知的,导致个体在声音和语音方面存在差异的序列变异也是未知的。在这里,我们将基因组序列多样性的数据与来自 12901 名冰岛人的语音录音中的声音和元音声学结合起来。我们展示了人声音调和元音声学如何在整个生命周期中变化,并与人体测量、生理和认知特征相关。我们发现,人声音调和元音声学具有遗传成分,并发现了与声音音高相关的关联共同变体。这些变体也与肾上腺基因表达和心血管特征相关。通过表明声音和元音声学受遗传影响,我们朝着理解人类发声系统的遗传学和进化迈出了重要的一步。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7197/10256171/befe801ae97a/sciadv.abq2969-f1.jpg

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