Overview For this assignment you will design a figure and write a short explanation of numerical data for two distinct audiences, conference attendees and English-speaking primary care physicians in Russia.

Purpose As a scientist, you will often select, design, and write about data in creating reports, manuscripts, presentations, and posters. Doing so allows you to communicate findings to your professional colleagues or the general public. This data analysis assignment enables you to practice these skills.

Data Imagine that you are a researcher studying the frequency of MeCP2 mutations in a population in Russia. You obtained blood samples from 50 patients seen in clinics between the years 2005-2008. You collected DNA and sequenced the MeCP2 gene in each sample. Your raw data are presented in Table 1. Table 2 summarizes the conventions for representing mutations to help you interpret Table 1. Table 1. MeCP2 mutations Nucleotide # DNA code change Amino acid change Frequency 258 Δ 2 86 F/S 2 301 C301A P101T 2 419 C419T A140V 10 455 C455G P152R 11 468 C468A D156E 3 622 C622T Q208X 2 677 InsA 225 F/S 2 730 C730T Q244X 1 802 C802T R268W 2 964 C964G P322A 1 1026 InsG 315 F/S 1 1120 Δ 69 Δ 374-396 1 1163 Δ 26 387 F/S 6 1196 C1196T P399L 1 1216 C1216T Q406X 3 1282 G1282A G428S 2

Table 2. Types of mutations Mutation type Change Example of convention for DNA code display Example of convention for protein code display Missense Incorrect nucleotide—still codes for an amino acid G6C (G at position 6 mutated to G) W2C (mutation results in change of W at position 2 to C) Nonsense Incorrect nucleotide—codes for a stop codon G6A (G at position 6 mutated to A) W2X (mutation results in change of W at position 2 to stop codon) Deletion(referring to the amino acid) Nucleotide(s) deleted in multiples of three Δ 6 (deletion of 6 nucleotides at unspecified location) Δ 2-3 (deletion of the 2nd and 3rd amino acids) Insertion(referring to the amino acid) Nucleotide(s) inserted in multiples of three InsGAT (insertion of nucleotides G,A, and T at unspecified location) 2 InsD (insertion of D at position 2) Frameshift Deleted or inserted nucleotides shift the reading frame Δ 4InsG (convention is similar to insertion or deletion) 3 F/S 3 F/S(frame is shifted beginning at position 3)

Assignment directions. This two-part assignment enables you to visually represent numerical data in two different ways for two different audiences—an audience in your discipline and an audience outside your discipline. Read each situation and design a figure for each. You are responsible for choosing the type of figure and its content—you must decide how to best represent the data for each audience and situation.

Part A: Representing Data to Conference Attendees Situation. You will be showing these data at a conference on neurodevelopmental disorders. Assume that those who attend your presentation are knowledgeable about your area of research. You would like to present these data in a visual that will clearly communicate the following: location of the mutation on the gene or the protein (not both) mutation type (missense, nonsense, frameshift, or deletion) frequency (number of patients identified with that mutation) Present these data in a figure that will illustrate the above information. Write a short (<250 word) discussion of the results and your conclusions from the data.

Part B. Representing Data to Primary Care Physicians Situation. You are providing a figure for a short report that is being written for English-speaking primary care physicians treating Rett Syndrome patients in Russia. You would like them to see a figure that shows the types of mutations, from most common to least common. Design a figure that will simply and effectively communicate this information. Your audience will rely on the figure you create, so you do not need to write a discussion of these (Part B) results.

Evaluation Here are the criteria that will be used to assess the data analysis assignment: Communicated your data analysis accurately and completely using visual and verbal means Designed and wrote up your data professionally and ethically (that is, without distortion) Adhered to design conventions for figures Adhered to sentence-level correctness (e.g., grammar, punctuation, usage, and so on)