1. Control of gene expression
Transcriptional
Post-transcriptional
Epigenetics and long range control

2. Control of gene expression
Transcriptional
Tissue specific transcription factors
Binding of hormones, growth factors etc. to response elements
Use of alternative promoters in a single gene

3. Control of gene expression
Post-transcriptional
Alternative splicing
Alternative polyadenylation
Tissue specific RNA editing
Translational control mechanisms

4. Control of gene expression
Epigenetics and chromatin structure
Allelic exclusion (rearrangements, imprinting, X inactivation)
Long range control by chromatin structure (position effects Pax6 in aniridia)
Cell position-dependent, short range signaling

5. Control of gene expression
rRNA synthesis
Arrows indicate cleavage sites

7. Control of gene expression
Initiation of transcription (RNA pol I)

9. Control of gene expression
tRNA and 5s RNA promoter elements
Initiation of transcription (RNA pol III)

11. Control of gene expression
Conserved locations of promoter elements in eukaryotes

13. Control of gene expression
Insulin gene promoter organization
NRE negative regulatory element
CRE cAMP response element

15. Control of gene expression
HS-40 alpha-globin regulatory site
Tissue specific regulation (many sites)

17. Control of gene expression
Structural domains in transcription factors
HTH
HLH
Zn Finger
Alpha-helix

19. Control of gene expression
Binding of conserved motifs to double helix

21. Control of gene expression
Steroid receptors and response elements GR ER PR
RAR TR
VDR

23. Control of gene expression
Transcription regulation by glucocorticoids

25. Control of gene expression
Target gene expression via signal transduction
Protein kinase: hormonal signaling through cAMP-pt kinase A pathway
Cytoplasmic transcription factor NF kappa B and translocation to the nucleus

27. Control of gene expression
Major Classes of Cell Surface Receptor
G protein coupled
Serine-Threonine kinase
Tyrosine kinase
Tyrosine kinase associated JAK (janus protein kinase) activity in JAK-STAT signaling
Ion channel-linked

28. Control of gene expression
Secondary Messengers in Cell Signaling
Cyclic AMP (cAMP)
Cyclic GMP (cGMP)
Phospholipids/Ca

29. Control of gene expression
The IRE binding protein and iron-response elements (IREs)

31. Control of gene expression
Genes with multiple promoters
Dystrophin has eight promoters

33. Control of gene expression
Differential RNA splicing
Wt1 Wilm’s tumor (four splice forms)
Calcitonin gene (tissue specific products)

36. Control of gene expression
Tissue specific RNA editing
Apolipoprotein B gene (rare)

38. Control of gene expression
Methylation and gene expression
Largely confined to CpG dinucleotides
CpG islands
Methylation patterns change during development
Sex-specific regulation

40. Control of gene expression
Methylation
CpG islands

42. Control of gene expression
Methylation
Changes in methylation throughout development

44. Control of gene expression
Methylation
Sex-specific regulation of the Dnmt1 methyl transferase gene
1so somatic
1sp spermatocytes
1oo oocytes

46. Control of gene expression
Transcriptional repression by histone deacetylation
Mediated by methylation
Methylated CpG’s bound by MeCP2 repressor

48. Control of gene expression
Gene clusters
Coordinated switching
Locus control region
Globin genes

51. Control of gene expression
Imprinting
DNA methylation key component
Selective expression of genes
Nonequivalence of maternal and paternal genomes

52. Control of gene expression
Monoallelic expression from biallelic genes
Allelic exclusion according to parent of origin
Genomic imprinting
Allelic exclusion independent of parent of origin
X-chromosome inactivation
Programmed DNA rearrangement
Unknown mechanism

55. Control of gene expression
Programmed rearrangement
Ig and TCR loci in B and T lymphocytes

56. Control of gene expression
Programmed rearrangement
Ig heavy chain locus on 14q32
86 variable (V) sequences
30 diversity (D) sequences
9 joining (J) segments
11 constant (C) sequences

58. Control of gene expression
Programmed rearrangement
Light chain synthesis
Somatic recombination V to J
RNA splicing VJ to C
Heavy chain synthesis
Two sequential somatic recombination events yield DJ and VDJ
RNA splicing VDJ to C
Somatic recombination VDJ to different C (switching)

60. Control of gene expression
Inversion or deletion based splicing
Ig kappa light chain
V-J splicing