Promoter usage and alternative splicing.
Recent findings justify a renewed interest in alternative splicing (AS): the process is more a rule than an exception as it affects the expression of 60% of human genes; it explains how a vast mammalian proteomic complexity is achieved with a limited number of genes; and mutations in AS regulatory sequences are a widespread source of human disease. AS regulation not only depends on the interaction of splicing factors with their target sequences in the pre-mRNA but is coupled to transcription. A clearer picture is emerging of the mechanisms by which transcription affects AS through promoter identity and occupation. These mechanisms involve the recruitment of factors with dual functions in transcription and splicing (i.e. that contain both functional domains and hence link the two processes) and the control of RNA polymerase II elongation.
Kornblihtt
Alberto R
AR
Laboratorio de Fisiologia y Biologia Molecular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellon 2, 2 piso, C1428EHA Buenos Aires, Argentina. ark@fbmc.fcen.uba.ar
D017398:Alternative Splicing; D000818:Animals; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012319:RNA Polymerase II / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics; D014157:Transcription Factors / Q000502:physiology; D014158:Transcription, Genetic
D012333:RNA, Messenger; D014157:Transcription Factors; D012319:RNA Polymerase II