Genome Quebec Innovation Centre, Department of Human Genetics. McGill University
Genome Quebec Innovation Centre
740 Dr. Penfield, Room 7210
Montréal, Québec H3A 1A4
514-398-3311 ext. 00891
jacek [dot] majewski [at] mcgill [dot] ca
Using bioinformatics approaches to understand gene-splicing regulation. Differential pre-mRNA splicing is emerging as a key mechanism in regulation of gene expression. Our research is based on the intersection of both bioinformatics and experimental approaches. We are using isoform-sensitive microarrays (Affymmetrix HuEx chip) and more recently, second-generation sequencing technologies (Illumina, Roche 454) to identify exons that are alternatively spliced across different tissues and individuals. Concurrently, we are using interspecies DNA alignments to identify sequence motifs and RNA secondary structures that are over-represented in the vicinity of alternative splicing events. Our bioinformatics analysis will allow us to develop a set of nucleotide sequences that potentially act as splicing regulators and will be further tested in experimental cell-culture systems. We are also evaluating the potential of common polymorphisms to result in differential expression of alternative protein isoforms in human populations, hence influencing phenotypic diversity and acting as modifiers or causes of genetic disorders.