Lynne E. Maquat

University of Rochester

Election Year: 2011
Primary Section: 21, Biochemistry
Membership Type: Member

Research Interests

I first demonstrated that a human disease could be due to a pre-mRNA splicing defect by studying the metabolism of Beta-globin RNA in bone-marrow aspirates from patients with Beta+-thalassemia (1980). Initial clues about nonsense-mediated mRNA decay (NMD) derived from our subsequent studies of patients with Beta0-thalassemia (1981), which my lab recapitulated by examining the molecular basis of a different inherited disorder (1988). NMD generally targets mRNAs that prematurely terminate translation to prevent the production of abnormally shortened proteins that can be toxic to cells. By so doing, NMD protects cells not only from disease-associated mutations but also from frequent mistakes routinely made during pre-mRNA processing. We lab found that cells distinguish termination codons that trigger NMD from those that do not based on where splicing occurs within pre-mRNA (1994). We also discovered that NMD in humans is restricted to newly synthesized mRNA (1994). These results led to discoveries of exon-junction complexes (2000, in collaboration with Melissa Moore), which we showed stably contains NMD factors (2002), and a new template for protein synthesis that we call the pioneer translation initiation complex (2000). We also uncovered Staufen-mediated mRNA decay, which is mechanistically related to NMD (2005) and competes with NMD (2008), and new roles for long noncoding RNAs and Alu elements (2011). My lab continues to study normal and disease-associated human RNA metabolism.

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