A new view of transcriptome complexity and regulation through the lens of local splicing variations

• DOI: 10.7554/elife.11752
• Publication Date: 2016-02-01T12:32:54Z
• Authors: Jorge Vaquero-Garcia; Alejandro Barrera; Matthew R Gazzara; Juan González-Va...; Nicholas F Lahens; John B Hogenesch; Kristen W Lynch; Yoseph Barash
• Keywords: Exon skipping; Splicing factor; splice

Alternative splicing (AS) can critically affect gene function and disease, yet mapping variations remains a challenge. Here, we propose new approach to define quantify mRNA in units of local (LSVs). LSVs capture previously defined types alternative as well more complex transcript variations. Building the first genome wide map from twelve mouse tissues, find constitute over 30% tissue dependent specific protein families. We show prevalence is conserved humans identify hundreds that are brain subregions or altered Alzheimer's patients. Amongst those novel isoforms Camk2 family poison exon Ptbp1, key splice factor neurogenesis. anticipate presented here will advance ability relate tissue-specific variation genetic variation, phenotype, disease.