What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy
Figure 1
The genomic structure of CDKL5 and its splice variants. (a) The human CDKL5 gene with nontranslated sequences in grey and exons encoding the catalytic domain in blue. Exons encoding the common C-terminal region appear in white, whereas isoform-specific sequences are shown in red, green, and as hatched. (b) hCDKL5 protein isoforms differing in the C-terminal region. CDKL5115 [22] contains the primate-specific exons 19–21. In CDKL5107 [3], intron 18 is retained. The inclusion of exon 16b would generate and/or [21, 23]. is a hypothetical splice variant in which exon 19 is excluded generating an alternative C-terminus (light blue; personal communication Limprasert.) (c) The murine CDKL5 isoforms. mCDKL5105 harbors a distinct C-terminal region encoded by a mouse-specific exon 19 (orange). As in humans, the retention of intron 18 generates the common CDKL5107 isoform [3].
