HST.161 | Fall 2007 | Graduate

Molecular Biology and Genetics in Modern Medicine


Problem Sets

Problem set 1 (PDF) (PDF)
Problem set 2 (PDF) (PDF)
Problem set 3 (PDF) (PDF)

Karyotyping assignment (PDF)

Reading Assignments

Reading Assignment 1 (PDF)

Associated Readings

Allamand, Valerie, et al. “A Single Homozygous Point Mutation in a 3’ Untranslated Region Motif of Selenoprotein N mRNA Causes SEPN1-related Myopathy.” EMBO Reports 7 (2006): 450-454.

Hatfield, Dolph L., and Vadim N. Gladyshev. “How Selenium Has Altered Our Understanding of the Genetic Code.” Molec and Cell Bio 22 (2002): 3565-3576.

Reading Assignment 2 (PDF)

Associated Readings

Watkins, Hugh, Ludwig Thierfelder, Ryuichiro Anan, John Jarcho, Akira Matsumori, William McKenna, J. G. Seidman, and Christine E. Seidman. “Independent Origin of Identical? Cardiac Myosin Heavy-Chain Mutations in Hypertrophic Cardiomyopathy.” Am J Hum Genetics 53 (1993): 1180-1185.

Koenig, M., et al. “The Molecular Basis for Duchenne versus Becker Muscular Dystrophy: Correlation of Severity with Type of Deletion.” Am J Hum Genet 45 (1989): 498-506.

Liebhaber, S. A., E.-U. Griese, I. Weiss, F. E. Cash, H. Ayyub, D. R. Higgs, and J. Horst. “Inactivation of Human α-globin Gene Expression by a de novo Deletion Located Upstream of the α-globin Gene Cluster.” PNAS 87 (1990): 9431-9435.

Reading Assignment 3 (PDF)

Associated Readings

Stamm, Christof, Ingeborg Friehs, Siew Yen Ho, Adrian M. Moran, Richard A. Jonas, and Pedro J. del Nido. “Review: Congenital Supravalvar Aortic Stenosis: A Simple Lesion?” European Journal of Cardio-thoracic Surgery 19 (2001): 195-202.

Meyer-Lindenberg, Andreas, Carolyn B. Mervis, and Karen Faith Berman. “Neural Mechanisms in Williams Syndrome: A Unique Window to Genetic Influences on Cognition and Behaviour.” Nature Reviews Neuroscience 7 (2006): 380-393.

Reading Assignment 4 (PDF)

Associated Readings

Orr, Harry T., and Huda Y. Zoghbi. “Trinucleotide Repeat Disorders.” Annu Rev Neurosci 30 (2007): 575-621.

Reading Assignment 5 (PDF)

Associated Readings

Buiting, Karin, et al. “Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect.” Am J Hum Genet 72 (2003): 571-577.

Horsthemke, B., and K. Buiting. “Imprinting Defects on Human Chromosome 15.” Cytogenet Genome Res 113 (2006): 292-299.

Williamson, Sarah L., and John Christodoulou. “Rett Syndrome: New Clinical and Molecular Insights.” Euro J Hum Genet 14 (2006): 896-903.

Reik, Wolf, and Annabelle Lewis. “Co-evolution of X-chromosome Inactivation and Imprinting in Mammals.” Nature Rev Genetics 1, AOP (2005): 1-8.

Robertson, Keith D. “DNA Methylation and Human Disease.” Nature Rev Genetics 6 (2005): 597-610.

Final Paper

Guidelines for writing the final paper (PDF)