BIOSC 150 1nd Edition Lecture 16Outline of Last Lecture I. Review for upcoming examII. Membranes III. ProteinsIV. SynthesisOutline of Current Lecture 1. Data Analysis2. Experimental Design 3. ProgeriaCurrent LectureHutchinson-Gilford Progeria facts:-Extremely rare disease: 105 children in 38 countries-Is not an inherited disease, but involves a de novo mutation in the genome-Prominent researchers include: Leslie Gordon, Scott Berns, and Francis Collins-Identification of mutations in LMNA as the cause of progeriaBackground:-Lamin A is an intermediate filament located in the nucleus-Localize lamin A via immunofluorescence (use of a fluorescently- labeled antibody)-Lamin A (antigen) present in fixed tissue section-Lamin A antibodies with attached fluorescent molecule (cannot see with white light)-Lamin A antibodies with attached fluorescent molecule (can see with blue light, appears green)-mRNA processing occurs in the nucleus – introns must be removed from eukaryotic RNA transcriptsThese notes represent a detailed interpretation of the professor’s lecture. GradeBuddy is best used as a supplement to your own notes, not as a substitute.-C to T mutation favors use of a “cryptic” splice site within exon 11-Use of this splice site generates a protein with an internal deletion-Farnesylation of Lamin A allows tethering to the nuclear envelope-However for proper function, the Lamin A must ultimately detach from the nuclear envelope-The amino acids recognized by the enzyme responsible for cleaving Lamin A lie within the 50 AA deletion in progerin-Quantitation of misshapen nuclei in cells expressing different lamin A variants-Lonafarnib treatment reverses nuclear blebbing fibroblasts from progerin
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