bioinformatics_exercise_2_F11_solutions

bioinformatics_exercise_2_F11_solutions - Bioinformatics...

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Unformatted text preview: Bioinformatics Exercise: Solutions Due 20 October 2011 For all three genes, there are multiple possible reasonable answers for predicted effects of the SNP. The solution given is an example of a plausible effect. Presenilin 1 (Alzheimer’s, PSEN1) • located on the long arm of chromosome 14 • The function of PSEN1 is poorly understood, but it is found in the brain, and may play a role in cell to cell connections or communication. This SNP changes a proline into a hydrophilic glutamine, which alters both the charge and conformation of the protein. Sickle cell anemia (HbB, hemoglobin) • located on the short arm of chromosome 11 • The function of the hemoglobin genes is to produce one of the four subunits that form the hemoglobin tetramer. Hemoglobin is responsible for transporting oxygen throughout the body. A critical aspect of this function is the ability to bind, transport and release oxygen at the appropriate times. This SNP will alter one of the helical structures on one of the hemoglobin subunits near the oxygen binding site, so it will negatively affect this aspect of hemoglobin function. Cystic fibrosis (CFTR) • located on the long arm of chromosome 7 • The CFTR gene is a chloride ion channel through the cell membrane that regulates the ability of the cell to move chloride ions across the membrane. This SNP causes a premature stop codon that produces a subunit that is nearly half of its normal size that significantly reduces the ability of the pentamer to properly regulate chloride ion concentration in the cell. ...
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