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Online Molecular Genetics Review Honors Biology 2013-2014
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snRNPs snRNPs, or small nuclear ribonucleic particles, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre-mRNA occurs....
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Joseph Merrick (1862-1890) “The Elephant Man” Originally believed to be afflicted with maternal impression as his mother was frightened by an elephant when pregnant with Joseph Actual cause of affliction was Proteus syndrome (mutation of ATK1 gene on chromosome 14) Was put on display in London Hospital Died of asphyxia in 1890 due to the weight of his cranium
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Neurofibromatosis (NF) Caused by mutation in neurofibromin gene (chromosome 17) Neurofibromin controls the activity of the RAS gene, which causes nervous tissue to divide Frequency 1:3,000 births Result: uncontrolled division of neural tissue
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Different Types of Neurofibromatosis InheritedDe Novo Due to a spontaneous mutation in chromosome 17 50% of cases of NF-1 are de novo
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Five Different De Novo Mutations of the Neurofibromin (NF-1) Gene Mutant Sequences 1,2,3 & 5 Cannot stop the RAS gene from causing rapid cell division Mutant #4 Despite mutations, #4 is able to prevent the RAS gene from promoting rapid cell growth
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The Cure For Neurofibromatosis? None (yet)
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Why is it unlikely that there will ever be a single cure for neurofibromatosis?
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Five different NF-1 Mutations = Five Different Causes of Neurofibromatosis
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What were the contributions of… Avery Chargaff Griffith Miescher Levine Watson & Crick Wilkins & Franklin
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What is timing, purpose and process REPLICATION TRANSCRIPTION TRANSLATION
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COMPARE & CONTRAST Strength, purpose and location of Phosphodiester bonds Hydrogen bonds Peptide bonds
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