Figure 3.

CELF6 gene, exons, domains, and regions of interest. A, UCSC genome browser view of the CELF6 gene in human, showing 16 exons (blue numbers), 5 putative isoforms (a–e), and alignment of the 3 RRMs. B, First candidate region, covered by two amplicons (B1 and B2), encompassing short poly-glutamine sequence (polyQ) and putative human-specific exon (red arrow). Human CELF6 exons are shown condensed in blue, and aligned mouse mRNAs are shown below in black. C, Second candidate region, covered by two amplicons (A3 and A4), encompassing the alternative first exon, and highly conserved putative promotor region (purple, brown) and the associated SNP RS2959930. D, Illustration of CELF6 protein isoforms. Isoform “a” of CELF6, which includes the alternative first exon (1b), does not contain the first RRM.