Student Handout 2. Human Sepiapterin Reductase mrna Gene Map A 3DMD BioInformatics Activity. Genome Sequencing. Sepiapterin Reductase

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1 Project-Based Learning ctivity Human Sepiapterin Reductase mrn ene Map 3DMD BioInformatics ctivity Joe Beery s mutation (father) S W T * V T P L K * T T T H * T * P P S * L P S * R P S R T V L S T E P W L T S R P S V P N L S K R T V Q E R R L R P E * L H S S E Q L L T E L D L H L P D F Q R P E L P Q S W P Q Q N R * H L V P L P T F Q R L V L R K F V D L S D S T Q V N N Y W L N L T S M L L T S S V L K F P D S P L N R T V V N I S S L L Q P F K W L Y K Examine the Human Sepiapterin Reductase mrn ene Map and answer the following questions. enome Sequencing 2. On what chromosome and in what position is the gene for sepiapterin reductase? 3. How many exons are in the sepiapterin reductase gene? Sepiapterin Reductase 4. What does the sepiapterin reductase enzyme do? 5. What role does the product of the sepiapterin reductase play in the cell? 7. What physiological processes are regulated by these neurotransmitters?...where molecules become real TM Page 1

2 Project-Based Learning ctivity Human Sepiapterin Reductase mrn ene Map 3DMD BioInformatics ctivity S W T * V T P L K * T T T H * T * P P S * L P S * R P S R T V L S T E P W L T S R P S V P N L S K R T V Q E R R L R P E * L H S S E Q L L T E L D L H L P D F Q R P E L P Q S W P Q Q N R * H L V P L P T F Q R L V L R K F V D L S D S T Q V N N Y W L N L T S M L L T S S V L K F P D S P L N R T V V N I S S L L Q P F K W L Y K Joe Beery s mutation (father) Mutations and mino cids You may wish to use the mino cid Side hain hart and enetic odon hart and/or enetic odon ircle in this section. See pages 5-7. that is transordered from the mutated gene. 9. How does this change affect the amino acid sequence of the protein? 10. What, if any, changes occur in the characteristics of the amino acid as a result of this mutation? 11. Outline the amino acid that is mutated in Joe Berry on the picture of sepiapterin reductase shown to the right. 12. How might a change that is so far from the active site have such a profound effect on the protein? the nucleotide bases....where molecules become real Page 2 TM

3 Project-Based Learning ctivity Human Sepiapterin Reductase mrn ene Map 3DMD BioInformatics ctivity S W T * V T P L K * T T T H * T * P P S * L P S * R P S R T V L S T E P W L T S R P S V P N L S K R T V Q E R R L R P E * L H S S E Q L L T E L D L H L P D F Q R P E L P Q S W P Q Q N R * H L V P L P T F Q R L V L R K F V D L S D S T Q V N N Y W L N L T S M L L T S S V L K F P D S P L N R T V V N I S S L L Q P F K W L Y K Joe Beery s mutation (father) 14. How does this change affect the amino acid sequence found in the protein? 15. How does this mutation affect the structure of the protein? 17. Outline the part of the protein affected by this mutation on the model pictured to the right. 18. Label the tetrahydrobiopterin in the model pictured to the right. enetics 19. Why are Joe and Retta Beery normal even though they both have a defective copy of their sepiapterin reductase gene? 20. Why do the twins exhibit dopamine responsive dystonia (DRD) even through their parents are normal? Page 3...where molecules become real TM

4 Project-Based Learning ctivity Human Sepiapterin Reductase mrn ene Map 3DMD BioInformatics ctivity S W T * V T P L K * T T T H * T * P P S * L P S * R P S R T V L S T E P W L T S R P S V P N L S K R T V Q E R R L R P E * L H S S E Q L L T E L D L H L P D F Q R P E L P Q S W P Q Q N R * H L V P L P T F Q R L V L R K F V D L S D S T Q V N N Y W L N L T S M L L T S S V L K F P D S P L N R T V V N I S S L L Q P F K W L Y K Joe Beery s mutation (father) 22. For convenience, both mutations are shown in the model that is shown in the photos. Why is this an incorrect representation? 23. Suppose that in the formation of gametes from the Beery twins, there is a crossover such that both mutations are in the same gene. What impact, if any, will this double mutation have on a child receiving the gamete? Treatment 24. What treatment do the twins receive to counteract the effects of their disorder? sing Your Knowledge 25. Look at the Human Sepiapterin Reductase mrn ene Map. What do the red wavy lines and yellow arrows located below the protein sequencing represent? disadvantages of whole genome sequencing. story. What are some advantages ND Page 4...where molecules become real TM

5 3 V R rg S Val K la Ser Valine rginine Serine Lys The enetic odon ircle D Lysine lanine sp N sn sparagine E spartic cid lu T Thr Threonine lutamic cid MMet Methionine ly lycine Isoleucine Ile I 3 5 Phenylalanine Phe F rginine rg R Leucine lutamine ln Q Serine Histidine His H Tyrosine Tyr Y STOP ysteine ys Proline STOP Tryptophan Trp W Leucine 3 mino cid Properties 3 Translation Start odon Hydrophilic / Polar Hydrophobic / Non-polar STOP Translation Stop odon Negative harge Positive harge ysteine Page 6 opyright 3D Molecular Designs - ll Rights Reserved , 2014 Version 1.0

6 Phe F Phe F Ile I Ile I Ile I Met M la la la la Tyr Y Tyr Y Stop Stop His H His H ln Q ln Q sn N sn N Lys K Lys K sp D sp D lu E lu E ys ys Stop Trp W rg R rg R rg R rg R rg R rg R ly ly ly ly mino cid Properties Translation Start odon Hydrophobic / Non-polar Negative harge ysteine Translation Stop odon Hydrophilic / Polar Positive harge Page 5 opyright 3D Molecular Designs - ll Rights Reserved , 2014 Version 1.0

7 tom olor Key arbon Oxygen Nitrogen Sulfur Hydrogen mino cid Property Key mino acid clip color and name color indicate property Page 7 Negative harge Hydrophilic Hydrophobic Positive harge ysteine opyright 3D Molecular Designs 2005, ll Rights Reserved.