lecture 3 - Molecular Basis of Human Diseases BIMM 110...

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1 Molecular Basis of Human Diseases BIMM 110 Spring 2010 Lecture 3 DNA, Gene Expression, Mutation Sickle Cell Anemia, Thalassemia
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2 Gene expression is the information flow from DNA to RNA to protein!
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3 DNA: double stranded, antiparallel helix, hydrogen bond 10 bp one helical turn
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4 The composition of RNA is similar to DNA, BUT RNA has ribose vs. DNA has deoxyribose RNA uses uracil vs. DNA uses thymine
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6 complex
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7 General trans cription factors, shown in blue, and RNA polymerase bind to cis-acting sequences closely adjacent to the mRNA transcriptional start site; these cis-acting sequences are collectively referred to as the promoter . More distal enhancer or silencer elements bind specialized and tissue-specific transcription factors. Coactivator proteins facilitate a biochemical interaction between specialized and general transcription factors.
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8 (Same sequence as synthesized RNA)
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9 01_18.jpg 5’ Cap 3’ polyA p o l y ad e n yl at i si g al s q u ce
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13 Splicing errors: Missing regular splicing signal
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14 new
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15 Figure 6-50 Molecular Biology of the Cell (© Garland Science 2008) The Genetic Code No need to memorize the sequence of codons except that AUG (ATG) is for start and for methionine
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20 silent mutation neutral mutation missense mutation nonsense mutation
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21 frameshift mutation insertion deletion
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22 Frameshift mutation generates a stop codon Deletion and generate a stop codon
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23 Frequencies of mutations in disease-causing genes Type of mutation Frequency (%) Complex rearrangements 1.8 Deletion 21.8 Insertion/duplication 6.8 Missense/nonsense 58.9 Regulatory 0.8 Repeat sequences 0.1 Splicing 9.8 Botstein & Risch, 2003, Nature Genetics
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24 Any questions?
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25 Sickle Cell Anemia Anemia – derived from Greek “without blood” - qualitative or quantitative deficiency of hemoglobin (transfer oxygen from lung to other tissues) in red blood cells, which leads to hypoxia ( lack of oxygen )
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Sickle Cell Anemia • One in every 500 black children born in the United States. • Life expectancy with current treatment is 42 and 48 years for males and females, respectively. • Inherited red blood cell (RBC) disease. • RBCs, normally in disk shape, are contorted into rigid crescents ("sickled"). • Anemia • Recurrent vascular obstructive painful crises. Pain is the most frequent cause of recurrent morbidity. • Deaths occur in infancy or early childhood, usually
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This note was uploaded on 04/19/2010 for the course BIOLOGY BIMM110 taught by Professor Mcginnis during the Spring '10 term at UCSD.

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lecture 3 - Molecular Basis of Human Diseases BIMM 110...

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