A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid. The presence of this premature stop codon results in the production of a shortened, and likely nonfunctional, protein.
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A nonsense mutation, or its synonym, a stop mutation, is a change in DNA that causes a protein to terminate or end its translation earlier than expected. This is a common form of mutation in humans and in other animals that causes a shortened or nonfunctional protein to be expressed.
Leslie G. Biesecker, M.D.
Chief and Senior Investigator, Genetic Disease Research Branch; Head, Human Development Section and Physician Scientist Development Program
Dr. Biesecker's research focuses on the clinical and molecular delineation of human malformation syndromes. Currently, his laboratory is working on two classes of disorders, classic multiple congenital anomaly syndromes and segmental overgrowth disorders. The goals of his research program are to improve the medical care of patients affected by these disorders, provide generalized knowledge about the broad field of birth defects, and better understand basic mechanisms of normal and abnormal human development. Dr. Biesecker's group studies several multiple congenital anomaly syndromes, including Pallister-Hall syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome and Lenz microphthalmia syndrome.