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MicroRNA-eQTLs in the developing human neocortex link miR-4707-3p expression to brain size

Lafferty, Michael J, Aygün, Nil, Patel, Niyanta K, Krupa, Oleh, Liang, Dan, Wolter, Justin M, Geschwind, Daniel H, de la Torre-Ubieta, Luis +1 more·2023·eLife
DOI 10.7554/elife.79488PMC PMC9859047

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Abstract

Expression quantitative trait loci (eQTL) data have proven important for linking non-coding loci to protein-coding genes. But eQTL studies rarely measure microRNAs (miRNAs), small non-coding RNAs known to play a role in human brain development and neurogenesis. Here, we performed small-RNA sequencing across 212 mid-gestation human neocortical tissue samples, measured 907 expressed miRNAs, discovering 111 of which were novel, and identified 85 local-miRNA-eQTLs. Colocalization of miRNA-eQTLs with GWAS summary statistics yielded one robust colocalization of miR-4707–3p expression with educational attainment and brain size phenotypes, where the miRNA expression increasing allele was associated with decreased brain size. Exogenous expression of miR-4707–3p in primary human neural progenitor cells decreased expression of predicted targets and increased cell proliferation, indicating miR-4707–3p modulates progenitor gene regulation and cell fate decisions. Integrating miRNA-eQTLs with existing GWAS yielded evidence of a miRNA that may influence human brain size and function via modulation of neocortical brain development.

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Cited by

Sorted by citations

Authors
Lafferty, M. J., Aygün, N., Patel, N. K., Krupa, O., Liang, D., Wolter, J. M., Geschwind, D. H., de la Torre-Ubieta, L., & Stein, J. L.
Venue
eLife
Publisher
eLife Sciences Publications, Ltd
Published
2023-01-11
Volume
12
ISSN
2050-084X
DOI
10.7554/elife.79488
PMC
PMC9859047
Cited by
9
References
7
Language
en
Licence
Funders
  • National Institutes of Health (R01MH120125, R01MH118349, U54EB020403, R00MH102357)
  • National Institute of General Medical Sciences (5T32GM067553-13)

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