Lynne Elizabeth Maquat
Wolf Prize Laureate in Medicine 2021
Lynne E. Maquat
Affiliation at the time of the award:
University of Rochester, USA
“For discovering a mechanism that destroys mutant mRNA in cells – non-sense mediated mRNA decay (NMD)”.
“for fundamental discoveries in RNA biology that have the potential to better human lives. They have made ground-breaking discoveries in RNA regulatory mechanisms demonstrating that RNA is not a passive template between DNA and protein, but rather plays a dominant role in regulating and diversifying gene expression”.
Lynne Elizabeth Maquat is a professor of biochemistry and molecular biology at the University of Rochester, whose research focuses on the cellular mechanisms of human disease.
Messenger RNA (mRNA) takes genetic instructions from DNA and uses them to create proteins that carry out multiple cellular functions. NMD is a quality control mechanism that removes flawed messenger RNA molecules that, if left intact, would lead to the production of abnormal proteins that could be toxic to cells and initiate disease. Cells also use this pathway (NMD) to better respond to changing environmental conditions. NMD functions in one-third of inherited disorders, such as cystic fibrosis, and in one-third of acquired diseases, including many forms of cancer. Her work has furthered our understanding of the molecular basis of human disease and provides valuable information to help physicians implement “personalized” or “precision” medicine by treating the disease mutation that is specific to each individual patient.
Lynne Maquat is awarded the wolf prize for discovering a mechanism that destroys mutant messenger RNA in cells, nonsense-mediated mRNA decay. Maquat studied patients with B-thalassemia and discovered that the disease-causing mutation results in pre-mature termination of B-globin mRNA translation. Maquat and colleagues demonstrated the dependence of NMD on the position of the pre-mature stop codon within the mRNA transcript, leading to the discovery of the exon junction complex. Maquat also discovered that NMD works on normal (nonmutant) transcripts and thus plays an important role in regulating on-going gene expression.