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Deciphering the Central Dogma of Cystic Fibrosis Gene Mutation

Explore the genetic basis of cystic fibrosis, focusing on the CFTR gene mutation using the principles of the Central Dogma. Understand gene structure, mRNA synthesis, protein translation, and disease manifestation.

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Deciphering the Central Dogma of Cystic Fibrosis Gene Mutation

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  1. CentralDogma(for your disease?) LB 145 February 22-23, 2011

  2. Deoxyribonucleic Acid

  3. Protein (short protein called peptide) • Protein =Amino Acids stuck together • By what kind of bond? • What kind of reaction is this?

  4. From Gene to Peptide Functional Peptide: PROTEIN

  5. DNA 1 Synthesis of mRNA in the nucleus mRNA NUCLEUS CYTOPLASM

  6. DNA 1 Synthesis of mRNA in the nucleus mRNA NUCLEUS CYTOPLASM mRNA 2 Movement of mRNA into cytoplasm via nuclear pore

  7. DNA 1 Synthesis of mRNA in the nucleus mRNA NUCLEUS CYTOPLASM mRNA 2 Movement of mRNA into cytoplasm via nuclear pore Ribosome 3 Synthesis of protein Amino acids Polypeptide

  8. The CFTR gene is 189,000 bases long • There are 27 exons/ 26 introns in it. • The mRNA (all exons) is 6129 bases • How many codons is that, max? • The protein is 1480 amino acids long • Normally it’s a Cl- channel, the mutation? Cystic Fibrosis is most often caused by mutation DF508 in the CFTR gene

  9. What do you know of your disease’s Central Dogma? • What is the size of your gene? • How many exons/introns does it have? • What is the size of your mRNA (cDNA)? • How many codons does it have? • What is the size of your protein? • What is the normal vs abnormal function of it?

  10. Reminders • Peer Review DUE • Might want to look over the criticisms soon-ish • Order your primers by 5pm FRIDAY • Check ATCC.org for cells and DNA.

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