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Fig. 6 | BMC Genomics

Fig. 6

From: A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve

Fig. 6

rSOX-4 and rSOX-22 harbor regulatory SNPs that alter the function of SOX10 consensus sequences. a Each allele of the four rSOX regions that displayed regulatory activity were assessed in both orientations in S16 cells. Bar colors indicate major allele in the forward orientation (blue), minor allele in the forward orientation (red), major allele in the reverse orientation (black), and minor allele in the reverse orientation (grey). For each orientation, the minor allele is expressed relative to the major allele. b Major, minor, and binding-site-deleted (ΔSOX) alleles of rSOX-4 and rSOX-22 were evaluated for regulatory activity in the more active orientation, in S16 (blue bars) or MN1 (red bars) cells. c-d Major, minor, and binding-site-deleted (ΔSOX alleles of rSOX-4 and rSOX-22 were evaluated for regulatory activity with and without a construct to express wild-type SOX10 in MN1 cells (c) or dominant-negative SOX10 in S16 cells (d). Data from untreated cells are in blue and data from cells co-transfected with a SOX10 expression construct are in red. In all panels, error bars indicate standard deviations. e Sequence variants studied within rSOX-4 and rSOX-22. The nucleotides surrounding each variant studied [major allele, minor allele, and deleted SOX10 binding site (∆SOX)] are shown. SOX10 monomeric sites unaffected by the SNP are displayed in green. The SNP within the SOX10 monomeric site is indicated by bold, underlined, and red text. Deleted nucleotides are indicated by dashes. Each variant name is displayed on the left and corresponds to the sequences tested in previous panels

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