Online Molecular Genetics Review Honors Biology 2013-2014.
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Transcript of Online Molecular Genetics Review Honors Biology 2013-2014.
Online Molecular Genetics Review
Honors Biology 2013-2014
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. ...
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
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
Different Types of NeurofibromatosisInherited De Novo
•Due to a spontaneous mutation in chromosome 17•50% of cases of NF-1
are de novo
How is Neurofibromatosis similar to Achondroplasia in regard to the
mechanism of its molecular genetics?
Five Different De Novo Mutations of the Neurofibromin (NF-1) GeneMutant 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
The Cure For Neurofibromatosis?• None (yet)
Why is it unlikely that there will ever be a single cure for neurofibromatosis?
Five different NF-1 Mutations = Five Different Causes of Neurofibromatosis
What were the contributions of…
•Avery•Chargaff•Griffith•Miescher•Levine•Watson & Crick•Wilkins & Franklin
What is timing, purpose and process
• REPLICATION• TRANSCRIPTION• TRANSLATION
COMPARE & CONTRAST
•Strength, purpose and location of•Phosphodiester bonds•Hydrogen bonds•Peptide bonds