DNA Variant in the < b > < i > RPGRIP1L < /i > < /b > Gene Influences Alternative Splicing

In this study we identify a common variant inRPGRIP1L, rs7203525, that influences alternative splicing, increasing the inclusion of exon 20 ofRPGRIP1L. We detected this alternative splicing association in human postmortem brain tissue samples and, using a minigene assay combined with in vitro mutagenesis, confirmed that the alternative splicing is attributable to the alleles of this variant. The predominateRPGRIP1L isoform expressed in adult brains does not contain exon 20; thus, a shift to include this exon may impact brain function.Mol Neuropsychiatry 2019;5(suppl 1):97 –105
Source: Molecular Neuropsychiatry - Category: Neuroscience Source Type: research