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Elife. 2019 Jan 10;8. pii: e41770. doi: 10.7554/eLife.41770. [Epub ahead of print]

The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.

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Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, United States.
Center for Personal Dynamic Regulomes, Stanford University, Stanford, United States.
J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, United States.
Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle, United States.
Department of Genetics and Biochemistry, Clemson University, Clemson, United States.
Vienna Biocenter, Institute of Molecular Biotechnology of the Austrian Academy of Science, Vienna, Austria.


Long noncoding RNAs (lncRNAs) have been shown to act as important cell biological regulators including cell fate decisions but are often ignored in human genetics. Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children with autism spectrum disorder/intellectual disability versus healthy controls revealed focal genomic mutations affecting several lncRNA candidate loci. Here we find that a t(5:12) chromosomal translocation in a family manifesting neurodevelopmental symptoms disrupts specifically lnc-NR2F1. We further show that lnc-NR2F1 is an evolutionarily conserved lncRNA functionally enhances induced neuronal cell maturation and directly occupies and regulates transcription of neuronal genes including autism-associated genes. Thus, integrating human genetics and functional testing in neuronal lineage induction is a promising approach for discovering candidate lncRNAs involved in neurodevelopmental diseases.


genetics; genomics; human; mouse; regenerative medicine; stem cells

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Conflict of interest statement

CA, QM, OW, SF, RF, QL, BC, MO, VO, BD, LD, JX, KT, LW, UE, JP, YZ, KQ, EE, AS, MW, HC The authors declare that no competing interests exist.

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