Characterising the transcriptional profile of the calcium channel gene CACNA1F in human brain


  • Voltage-gated calcium channels (VGCCs) significantly affect many aspects of brain function including neuronal excitability and synaptic plasticity.
  • Large-scale genetic studies implicate VGCCs in the pathophysiology of psychiatric disorders
  • Each VGCC gene encodes multiple functionally-distinct isoforms via transcriptional mechanisms
  • Brain-enriched VGCC isoforms might represent attractive therapeutic targets for psychiatric disorders, but the complement of VGCC isoforms present in human tissues, including brain, remains largely unknown
  • The CACNA1F gene encodes CaV1.4 which has been associated with educational attainment. It is not reported to be expressed in brain tissue but there is little direct investigation of this possibility in humans
  • We investigated whether there is evidence of expression at the CACNA1F locus in publicly-available brain RNASeq data produced by the Lieber Institute for Brain Development (LIBD)
  • The LIBD data indicated the possible presence of a truncated isoform of CACNA1F in human postmortem dorsolateral prefrontal cortex


  • RNA from 8 brain regions of 6 healthy controls was reverse transcribed to examine expression of truncated CACNA1F in human brain
  • Primers were designed to target both the full-length CACNA1F and truncated CACNA1F mRNA, based on the LIBD RNASeq data
  • We were able to amplify truncated, but not full length, CACNA1F
  • Nanopore long-read sequencing was used to examine the diversity of truncated CACNA1F isoforms (see right), using a novel bioinformatics pipeline

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