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. 2024 Jul 26;143(7):921–938. doi: 10.1007/s00439-024-02693-y

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 5 — The lncRNA ENSG00000257522 is disrupted in multiple individuals with microcephaly, as shown here for NIJ1. (A) Chromosome diagrams depict the translocation between 8q21.13 and 14q12 in NIJ1. Above, TADs containing the breakpoints are shown, with the breakpoint positions indicated by vertical orange bars and the edges of the region shown in vertical pink bars. TAD borders were defined in (Dixon et al. 2012). Triangular contact maps display micro-C data indicating chromatin conformation (Krietenstein et al. 2020). H3K4Me1 and H3K27Ac tracks depict enhancer-associated chromatin modifications (ENCODE Project Consortium 2012). The VISTA track shows experimentally validated enhancer elements (Visel et al. 2007). Protein-coding genes are shown in blue and non-coding genes in green, with a single isoform depicted per gene. (B) Expanded view of the genomic region surrounding the 8q21.13 breakpoints in NIJ1. (C) Expanded view of the genomic region surrounding the 14q12 breakpoints in NIJ1. The directly disrupted lncRNAs ENSG00000258028 and ENSG00000257522 are highlighted in red