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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Sequence variants affecting voice pitch in humans.
Rosa S Gisladottir1,2, Agnar Helgason1,3, Bjarni V Halldorsson1,4
1deCODE Genetics/Amgen Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Science Advances
|June 9, 2023
Summary
Scientists discovered genetic links to voice pitch and vowel acoustics in 12,901 Icelanders. Common variants in the ABCC9 gene influence voice pitch, offering insights into the genetics of human speech.
Area of Science:
- Genetics
- Bioacoustics
- Human Evolution
Background:
- The genetic underpinnings of the human vocal system and individual voice/speech variations remain largely unexplored.
- Understanding the genetic basis of vocal traits is crucial for fields ranging from linguistics to medicine.
Purpose of the Study:
- To investigate the genetic influences on voice pitch and vowel acoustics.
- To identify specific genetic variants associated with variations in human voice characteristics.
- To explore the correlation between vocal traits and other biological and cognitive factors.
Main Methods:
- Genome sequencing data from 12,901 Icelandic individuals was analyzed.
- Voice and vowel acoustics were measured from speech recordings.
- Statistical analyses were performed to correlate genetic data with acoustic measurements and other traits.
Main Results:
- Voice pitch and vowel acoustics demonstrate a heritable component.
- Common variants in the ABCC9 gene were found to be associated with voice pitch.
- These ABCC9 variants also showed associations with adrenal gene expression and cardiovascular traits.
Conclusions:
- Vocal acoustics, including voice pitch and vowel characteristics, are influenced by genetic factors.
- The identification of ABCC9 variants provides a genetic link to voice pitch.
- This research represents a significant step towards understanding the genetic basis and evolutionary aspects of the human vocal system.
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