Poster Presentation 43rd Lorne Genome Conference 2022

Three steps towards the splicing code: GWAS of individual splice sites in Arabidopsis (#147)

Craig I Dent 1 , Sourav Mukherjee 1 , Stefan Prodic 1 , Jordyn Coutts 1 , Hongyu Zheng 1 , Elaine Zhang 1 , Aiswarya Balakrishnan 1 , Yalong Guo 2 , Alexandre Fournier-Level 3 , Sridevi Sureshkumar 1 , David R Powell 4 , Sureshkumar Balasubramanian 1
  1. School of Biological Sciences, Monash University, Clayton, VICTORIAN, Australia
  2. Institute of Botany, Chinese Academy of Sciences, Beijing, China
  3. School of BioSciences, University of Melbourne, Melbourne, Victoria, Australia
  4. Monash Bioinformatics Platform, Clayton, Victoria, Australia

RNA splicing, and variations in this process referred to as alternative splicing, are critical aspects of gene regulation in eukaryotes. From environmental responses in plants to being a primary link between genetic variation and disease in humans, splicing differences confer extensive phenotypic changes across diverse organisms. Regulation of splicing occurs through differential selection of splice sites in a splicing reaction, which produces variation in the abundance of isoforms and/or splicing events. However, genomic determinants that influence splice-site selection remain largely unknown. Here we leverage publicly available data to perform a Genome-Wide Association Study of the utilisation of more than 16000 individual splice-sites across the Arabidopsis transcriptome; identifying in excess of 6000 associations. We report numerous patterns identified from this new dataset, including strong evidence for the cis-, rather than trans-, genetic variation driving splice site choice.