1. A Zero-Knowledge Based Introduction to Biology
Johannes Birgmeier
January 10, 2018

2. Nucleobases:

5. Amino Acids

11. Translation
The ribosome (a complex of protein and RNA) synthesizes a protein by reading the mRNA in triplets (codons). Each codon is translated to an amino acid.

12. Mutation: Structural Abnormalities

13. Single Nucleotide Changes

14. Single Nucleotide Changes

15. Syndactyly
(occurs 1 of 2000 births)

16. Cutis Laxa (Loose Skin)
(very rare)

17. Coloboma
(1 in 2000 births)

18. Different Cell Types
Subsets of the DNA sequence determine the identity and function of different cells

19. Transcription Regulation
Transcription factors link to binding sites
Complex of transcription factors forms
Complex assists or inhibits formation of the RNA polymerase machinery

20. Transcription Factor Binding Sites
Short, degenerate DNA sequences recognized by particular transcription factors
For complex organisms, cooperative binding of multiple transcription factors required to initiate transcription
Binding Sequence Logo

21. Transcription Regulation
TF A
Binding Site
Gene B
Transcription Factor A

22. Regulatory Elements ~ 20-25k genes
Expression Modulated by Regulatory elements
Enhancer, Promoters, Silencers

23. Controlling Gene Expression
Transcription factors (TFs):
Proteins that recognize sequence motifs in enhancers, promoters
Combinatorial switches that turn genes on/off

25. Disease Implications
SHH
MUTATIONS
Brain
Limb
Other
Bejerano Lab

26. Limb Enhancer 1Mb away from Gene
SHH
Bejerano Lab

27. Enhancer Deletion
limb
SHH
DELETE
Limb
Bejerano Lab

28. Enhancer 1bp Substitution
limb
SHH
MUTATIONS
Limb
Lettice et al. HMG :
Bejerano Lab