Differential DNA methylation of vocal and facial anatomy genes in modern humans.

Nature Communications
David GokhmanLiran Carmel

Abstract

Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.

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Citations

Mar 15, 2020·American Journal of Physical Anthropology·Genevieve HousmanAnne C Stone
Mar 23, 2021·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Dan DediuAndrea L Waters-Rist
Apr 17, 2021·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Yulong LiXiaojun Yang
Apr 23, 2021·ELife·Carly V WeissDavid Gokhman
Aug 24, 2021·Frontiers in Genetics·Evan K Irving-PeaseFernando Racimo

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Datasets Mentioned

BETA
GSE96833
GSE27584
GSE64490
GSE50192
SRP059313
GSE37202
GSE94677
SRX3194436
GSE78608
GSE78607

Methods Mentioned

BETA
deamination
WGBS
PCR
RRBS
FCS
dissection
Assay
Illumina sequencing
RNA-seq

Software Mentioned

Biological
Bismark
ORGANize
blastn
minfi
TRIMMOMATIC
Bioconductor
DAVID
R
UNIGENE

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