BIOSC 150 1nd Edition Lecture 16 Outline of Last Lecture I Review for upcoming exam II Membranes III Proteins IV Synthesis Outline of Current Lecture 1 Data Analysis 2 Experimental Design 3 Progeria Current Lecture Hutchinson 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 progeria Background 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 transcripts These 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 patients
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