BBMB Research Seminars

September 20, 2007
Ravindra Singh
Associate Professor &
Endowed Dr. John G. and Mrs. Doris Salsbury Chair
Department of Biomedical Sciences
College of Veterinary Medicine
Iowa State University
"Evolving concepts of alternative splicing in a model human disease"
1414 Molecular Biology Buidling
4:10 p.m.

Abstract:

Alternative pre-mRNA splicing increases the coding potential of eukaryotic genome by producing multiple proteins from a single gene. It is also linked to many human and animal diseases. Spinal muscular atrophy (SMA), a neurodegenerative disease, is the leading cause of infant mortality. Most SMA cases are linked to the low levels of SMN due to deletion of Survival Motor Neuron 1 (SMN1). SMN2, a nearly identical copy of SMN1, fails to compensate for the loss of SMN1 due to predominant skipping of exon 7 during pre-mRNA splicing. Singh laboratory has used novel techniques to identify critical regulatory elements. One of such elements has emerged as a therapeutic target for the antisense-oligonucleotide-mediated correction of SMN2. The focus of the talk would be to introduce the complexity and untapped potential of a field of alternative splicing that is increasingly associated with minor as well as major human and animal diseases including cancer, diabetes and obesity.

Further reading:

1. Evolving concepts on human SMN pre-mRNA splicing
2. Unfolding the mystery of alternative splicing through a unique method of in vivo selection
3. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes
   
4. Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron