Biology Dept.
DePauw UniversityInstructor: Fornari |
BIO 415 LectureMolecular GeneticsLab-R 9:00-11:50pm*Olin 228A* Instructor: Chet Fornari Please Note: this course is an elective in |
Olin 232, x4781; e-mail: cfornari |
Text: Human Molecular Genetics, (2005) by Jack J. Pasternak, Wiley-Liss Pub. Prerequisites: BIO 120/140 or BIO 215; BIO 220 or BIO 315 or instructor's permission |
"Science should be as simple as possible but not simpler."
--Albert Einstein
| The first Parts of the course (I, II) focus on basic Transmission Genetics, the structure & function of genes and chromosomes as organized into genomes, along with an introduction to DNA polymorphisms. Essential principles of gene regulation and the basics of signal transduction pathways are also introduced. We do this early in the semester since your understanding
of what follows depends on knowing the theoretical genetics, biochemistry, and methods used to generate the data
you will be evaluating. So it's important to master this information at
the start of the semester; if you accomplish this goal, you will avoid
a great deal of confusion as we proceed through the remaining topics. Also,
we will try to appreciate more fully the strong connections between
the development and use of methods, and the generation
of data to support or refute creative hypotheses.
Part III of the course focuses on the Human Genome, and serves to direct our attention to the genes and gene families in our genome that are ultimately responsible for disease. A major emphasis in this Part is the role of transcription factors in the regulation of gene expression. We will review some classic gene systems and examine how they are controlled by specific protein factors (SSDBP's) which bind to specific DNA sites. This part will prepare you for a molecular genetic analysis of development & cancer, (Part IV). The last part of the course (V) will basically deal with modern Medical Genetics and Molecular Pathology; we will examine the history and genetic causes of certain diseases, and relate this scientific endeavor, experimentally done by candidate gene and positional cloning, to the Human Genome Project. Throughout the course, we will emphasize experimentation and bioinformtics as the primary means of generating data to test hypotheses; so we will examine the theoretical basis for a variety of methods. You will not be able to design a good experiment or critically evaluate the data in a journal article if you do not understand these methods, along with basic transmission or Mendelian genetics and DNA polymorphisms. Information and discussions from both the lecture and lab will help you to become thoroughly familiar with some of these basic techniques and concepts. When covering Part IV, development and cancer, we will draw heavily on the role played by transcription factors and signal transduction pathways(Part III); but for Part V, we will use our accumulated understanding of all areas of modern genetics. You can easily see how important it is to keep up with the material, since understanding any one Part depends on how well you mastered the previous one. |
Ch.1 Ch.2 Ch.3 |
PART I - Chromosome Structure/Function & Ideograms; Transmission Genetics, Linkage & Mapping, Human pedigrees; Essentials of the Human Genome 1. Understanding Human Disease: p. 1-14; RQs 1, 3-9 |
Ch.7 |
PART II - Discovering Human Disease Genes by Integrated Mapping
|
Part III - Advanced Human Genome; Bioinformatics; Population Genetics8. Bioinformatics: Genomics, Functional Genomics, & Proteomics: DiseaseGeneLinks; |
|
Ch.16 |
PART IV - The Biochemistry & Genetics of Development & Cancer16. Molecular
Genetics of Cancer Syndromes: Introduction to the (1) Cell Biology and Epidemiology of Cancer, (2) the 7 general types of cancers and the properties of cancer cells, and (3) general mechanisms for cancer initiation and progression, p.471-473 and slide set, Part One |
X Ch.17 |
PART V - Genetic Diseases & Molecular Pathologya. DNA-based diagnosis
of genetic diseases; identifying human disease genes b. Genetically complex human diseases c. Working toward human gene therapy |
INTERNET SITES & JOURNAL ARTICLES for this course by section: (see lab syllabus for additional sites)
| Section | relevant web sites |
journal articles |
|---|---|---|
I |
UCSC Genome Bioinformatics Ensembl Human |
Chromosome Mapping with DNA Markers by R. White & J-M Lalouel in Sci Am 258 #2 Feb 1988 REVIEW ARTICLE: The Genetics of Autism by R. Muhle, S.V. Trentaoste, and I. Rapin, MD in May 2004 Pediactrics 113 #5 REVIEW ARTICLE: The Melanocortin 1 Receptor (MC1R): More Than Just Red Hair by J.L. Rees in Pigment Cell Research 13: 135-140 (2000) |
II |
Short Tandem Repeat DNA Internet Database |
Chromosome Mapping with DNA Markers by R. White & J-M Lalouel in Sci Am 258 #2 Feb 1988 |
III |
DiseaseGeneLinks | |
IV |
Sci Am article on Herceptin and Dimercept, May 2006 Sci Am article on How Cancer Arises 1998 Sci AM article on the Genetic Basis of Cancer 1995 |
|
V |