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Nussbaum, R.L. et al. "Thompson & Thompson Genetics in Medicine," 6th edition (Revised Reprint), Saunders, 2004. Chapters 1- 6; Clinical Cases: Familial Hypercholesterolemia, Xeroderma Pigmentosum, Hemophilia, Thalassemia, I-Cell Disease, p. 215; Telomerase pp. 318-320.

Baynes, J. and Dominiczak, M.H. "Medical Biochemistry," (2nd edition) Mosby, 2004. Chapters 29-33.

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Learning Objectives for Lecture 6:

Know the major steps in processing eukaryotic mRNA
Understand how the two transesterification reactions remove an intron transcript and ligate the exon transcripts
Understand the nature of the donor and acceptor splice sites
Understand what a spliceosome is and how splicing requires small nuclear RNAs
Understand how splice sites are selected
Understand how mutations in splice sites affect mRNA production
Understand how different patterns of alternative splicing can give rise to a diversity of mRNAs and proteins

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Molecular and Human Genetics
     Learning Objectives
     Lectures - Fall 2005
     Lectures - Spring 2006
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Medical Biochemistry

Lecture 6: RNA Processing

9/6/05