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. 2019 Apr 10;33(7):8161–8173. doi: 10.1096/fj.201802646R

Figure 4.

Figure 4

Single nucleotide substitutions in the promoter are associated with induction of open chromatin and neuronal transcription activation of the testis-specific gene NUP21OL. A) Linkage of the rs114697636 SNP G allele, located near a start codon, and the rs11264875 SNP A allele, located at an exonic region of NUP210L. Monoallelic expression is demonstrated by direct Sanger sequencing of brain transcript cDNA from heterozygous carriers. B) Presence of the G allele at rs114697636 was strongly associated with an emerging H3K4me3 peak at the NUP210L promoter in all carriers. Asterisks denote the presence of the G allele in heterozygous (C28 and S14) and homozygous (A5) individuals. C) RT-PCR analysis of NUP210L relative to ubiquitin C (UBC) gene shows that NUP210L expression occurs in carriers of the rs114697636-G allele variant only (see also Supplemental Fig. S8). D) In general, NUP210L was characterized by testis-specific transcription and an active chromatin state of the promoter. ChIP-seq of testis (68) and RNA-seq of a panel of tissues from the Illumina BodyMap project are shown. A, autism; C, control; S, schizophrenia.