PT  - JOURNAL ARTICLE
AU  - Yann Le Guen
AU  - François Leroy
AU  - Cathy Philippe
AU  - IMAGEN consortium
AU  - Jean-François Mangin
AU  - Ghislaine Dehaene-Lambertz
AU  - Vincent Frouin
TI  - Enhancer locus in ch14q23.1 modulates brain asymmetric temporal regions involved in language processing
AID  - 10.1101/539189
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 539189
4099  - http://biorxiv.org/content/early/2020/04/12/539189.short
4100  - http://biorxiv.org/content/early/2020/04/12/539189.full
AB  - Identifying the genes that contribute to the variability in brain regions involved in language processing may shed light on the evolution of brain structures essential to the emergence of language in Homo sapiens. The superior temporal asymmetrical pit (STAP), which is not observed in chimpanzees, represents an ideal phenotype to investigate the genetic variations that support human communication. The left STAP depth was significantly associated with a predicted enhancer annotation located in the 14q23.1 locus, between DACT1 and KIAA0586, in the UK Biobank British discovery sample (N=16,515). This association was replicated in the IMAGEN cohort (N=1,726) and the UK Biobank non-British validation sample (N=2,161). This genomic region was also associated to a lesser extent with the right STAP depth and the formation of sulcal interruptions, plis de passage, in the bilateral STAP but not with other structural brain MRI phenotypes, highlighting its notable association with the superior temporal regions. Diffusion MRI emphasized an association with the fractional anisotropy of the left auditory fibers of the corpus callosum and with networks involved in linguistic processing in resting-state functional MRI. Overall, this evidence demonstrates a specific relationship between this locus and the establishment of the superior temporal regions that support human communication.Competing Interest StatementThe authors have declared no competing interest.