Logo image
CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4
Journal article   Open access   Peer reviewed

CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4

Andrew M Garrett, Peter J Bosch, David M Steffen, Leah C Fuller, Charles G Marcucci, Alexis A Koch, Preeti Bais, Joshua A Weiner and Robert W Burgess
PLoS genetics, Vol.15(12), pp.e1008554-e1008554
12/2019
DOI: 10.1371/journal.pgen.1008554
PMCID: PMC6957209
PMID: 31877124
url
https://doi.org/10.1371/journal.pgen.1008554View
Published (Version of record) Open Access

Abstract

The mammalian Pcdhg gene cluster encodes a family of 22 cell adhesion molecules, the gamma-Protocadherins (γ-Pcdhs), critical for neuronal survival and neural circuit formation. The extent to which isoform diversity-a γ-Pcdh hallmark-is required for their functions remains unclear. We used a CRISPR/Cas9 approach to reduce isoform diversity, targeting each Pcdhg variable exon with pooled sgRNAs to generate an allelic series of 26 mouse lines with 1 to 21 isoforms disrupted via discrete indels at guide sites and/or larger deletions/rearrangements. Analysis of 5 mutant lines indicates that postnatal viability and neuronal survival do not require isoform diversity. Surprisingly, given reports that it might not independently engage in trans-interactions, we find that γC4, encoded by Pcdhgc4, is the only critical isoform. Because the human orthologue is the only PCDHG gene constrained in humans, our results indicate a conserved γC4 function that likely involves distinct molecular mechanisms.
Mutation Sequence Deletion Multigene Family Alternative Splicing Cadherins - metabolism Exons Humans Male Neurons - cytology Embryonic Development INDEL Mutation Whole Genome Sequencing Animals Protein Isoforms - metabolism CRISPR-Cas Systems Female Mice Neurons - metabolism Cadherins - genetics Protein Isoforms - genetics

Details

Logo image