Bio 362 Human Genetics Spring 2002
Take home final exam
 back to syllabus

Read the following paper as your primary focus:
Mao et al. 2002. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat. Genet. 30: 421-425. (Available on Louise.)
Read this paper as important background to the primary paper:
Schalkwijk et al. 2001. A recessive form of Ehlers-Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. of Med. 345:1167-1175. (Also available on Louise.)

Write a summary and critique of the primary paper. In your introduction, include thorough information on Ehlers-Danlos syndrome in general and on the molecular functions of the various genes associated with the disorder; you will need to look up further sources for this. (Hint for one such source: there happens to be a good review article from May 2001 in a journal that is freely available on the internet. Use your database searching skills to find it.) Make sure you give sufficient background to clarify how the Mao et al. paper fits in with the current state of affairs regarding Ehlers-Danlos syndrome research; you should include a concise synopsis of the Schalkwijk et al. paper, discussing how the Mao et al. paper connects to and extends what was previously shown. You are also welcome to find additional recent research papers to supplement your background. For the primary paper, summarize the reasoning behind the experiments, the approaches taken (be specific on how they work), and the data generated (be specific on why the authors can make their conclusions). Critique the paper in terms of the quality of the data, the accuracy of the authors' interpretations, and the implications for future research.

There is no length restriction. Be concise but complete. A hard copy is due to me by May 13th at 5 PM, and also please email me the file. .

You MAY use your textbook, the WWW, and any printed material you can find. Be sure to cite any sources properly!!! (Here are links with information on proper formatting of citations for print and online sources.) You may NOT use your classmates (or any other person) as a resource. You may NOT tell each other about reference sources you have found. Feel free to contact me with questions; if I feel that your question is appropriate to answer, I will email a copy of the question and my response to the whole class.