Bio 363 Human Genetics Spring 2011
Take home final exam
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Read the following paper:
Bicknell et al., 2011a. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics 43: 350-355. Find and view the supplementary figures online. (Be sure you are focusing on the correct Bicknell et al., 2011, paper! See below for a second Bicknell paper.)

Glance briefly at the following two accompanying papers that were published back-to-back-to-back with the one above:
Bicknell et al., 2011b. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics 43: 356-359.
Guernsey et al., 2011. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nature Genetics 43: 360-365.

Write a single narrative that incorporates a summary and critique of the main paper (plus a mention of the accompanying papers as instructed below). Include background information from other sources on the gene in question and/or on related genes.
For the main paper, summarize each experiment in terms of 1) the reason for each experimental approach, 2) how the technique works in general, and 3) the data generated and the meaning thereof. Also critique each experiment in terms of the quality of the data and the accuracy of the authors' interpretations. Describe implications for future research. Throughout, pay careful attention to your wording to avoid inappropriate emulation of phrases and sentence structure from the original paper.
For the main paper's supplementary figures that you view online,
discuss whether you think any of the specific figures/information should have been included in the paper itself, and why.

For the accompanying two papers, discuss in general terms how the findings are related and how they set a broader context for the topic at hand.

You MAY use the internet, our community technique catalog, and any books or other printed material you can find. Be sure to cite any sources properly! (See the Davidson Department of Biology Statement on Plagiarism.) 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.

There is no length restriction. Be concise but complete. Please email me your summary and critique by Monday May 9th at 10 AM. Include your last name at the beginning of the file that you attach to your email.