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. 2020 Apr 23;26(5):1606–1618. doi: 10.1038/s41380-020-0728-2

Fig. 1. The lncRNA COSMOC regulates its neighbor gene MOCOS and its dysregulation affects all ASD patients of our cohort.

Fig. 1

a UCSC genome browser image depicting divergent transcription in the promoter region of the human MOCOS gene. The lncRNA COSMOC (also called RP11-49l11.1, transcript AC023043.1-201 or LOC101927809) spans 7454 bp and comprises 2 exons of 214 bp and 395 bp separated by a long intron of 6845 bp. It is transcribed in antisense direction to MOCOS. Tracks showing RNA-seq, CpG islands, Histone H3K4 trimethylation (H3K4me3) sites, DNase hypersensitivity spick clusters (DNase HS), RNA polymerase II binding (POLII) and binding sites for ELF1 and YY1transcription factors are from the human neuroblastoma cell line SK-N-SH. Base-level sequence comparison between COSMOC in human, monkey and mouse genomes indicates poor conservation in mice. b Agarose gel electrophoresis of COSMOC PCR products and Western blot analysis of MOCOS expression in a variety of cell lines. The specificity of the amplified products was confirmed by subsequent sequencing. GAPDH was used as a loading control for western blot. c Cell fractionation and qRT-PCR analysis of COSMOC expression in OSC. MALAT-1 is used as a control for nucleus/cytoplasm fractionation (n = 3). d qRT-PCR analysis of COSMOC and MOCOS expression in response to MOCOS knockdown in OSCs. Cells were transfected with scrambled interfering RNAs (si-Control) or interfering RNAs directed against MOCOS (si-MOCOS) (n = 4; Mann–Whitney test: *p < 0.05). e Western blot analysis of MOCOS expression in stem cells transfected with si-MOCOS. f qRT-PCR analysis of COSMOC and MOCOS expression in stem cells in response to COSMOC knockdown; (n = 5; Mann–Whitney test: *p < 0.05). g 72 h after treatment of OSCs with si-COSMOC, MOCOS downregulation was revealed by western blot. h qRT-PCR analysis of COSMOC gene expression in OSCs of ASD patients (ASD-OSCs) and matched healthy individuals (Control-OSCs), (n = 11; Mann–Whitney test: ****p < 0.0001). For all figures, n stands for number of biological replicates of OSC.