1. Organization of the human genome
Genome structure
Nuclear vs. mitochondrial genomes
Gene families
Transposable elements
Other repeated sequences

3. Organization of the human genome
Mitochondrial genome
Small (16.5 kb) circular DNA
rRNA, tRNA and protein encoding genes (37)
1 gene/0.45 kb
Very few repeats
No introns
93% coding
No recombination
Maternal inheritance

5. Organization of the human genome
Limited autonomy of mt genomes mt encoded nuclear
NADH dehydrog 7 subunits >41 subunits
Succinate CoQ red 0 subunits 4 subunits
Cytochrome b-c1 comp 1 subunit 10 subunits
Cytochrome C oxidase 3 subunits 10 subunits
ATP synthase complex 2 subunits 14 subunits
tRNA components 22 tRNAs none
rRNA components 2 components none
Ribosomal proteins none ~80
Other mt proteins none mtDNA pol, RNA pol etc.

7. Organization of the human genome
Nuclear genome
3300 Mb
23 (XX) or 24 (XY) linear chromosomes
65-80,000 genes
1 gene/40kb
Introns
3% coding
Repetitive DNA sequences (45%)
Recombination
Mendelian inheritance (X + auto, paternal Y)

8. Organization of the human genome
Contrasting gene densities
HLA high density
Dystrophin low density

10. Organization of the human genome
Gene families
Functionally similar genes are occasionally clustered, but usually dispersed throughout the genome

12. Organization of the human genome
Genes vary in size and exon content

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16. Organization of the human genome
Genes within genes
Intron 26 of the NF1 gene contains three internal genes.

18. Organization of the human genome
Gene families defined by conserved amino acid motifs
DEAD box.
WD repeat families

20. Organization of the human genome
Ig superfamily
Cell surface receptors
Similar domain structure

22. Organization of the human genome
Clustered gene families
Growth hormone 5 copies (67kb)
aglobin 7 copies (50kb)
Hox genes (multi) four clusters
Olfactory receptors in 25 large clusters

23. Organization of the human genome
Interspersed gene families
Pax 9 copies
Actin >20 copies
Alu elements (repeats) 1.1 million
LINE elements (L1) ,000

25. Organization of the human genome
HLA heavy chain gene cluster
Gene fragments
Pseudogenes
Truncated genes

27. Organization of the human genome
Processed pseudogenes
Originate by reverse transcription
TPRT

29. Organization of the human genome
Chromosomal location of repeats
telomere
Centromere
LINE elements (Alu Elements)
Minisatellites

31. Organization of the human genome
Formation of higher order repeat units

33. Organization of the human genome
Human transposable elements

35. Organization of the human genome
Transposable elements with RNA intermediates
Endogenous retroviruses
Retrotransposons
Retropseudogenes

37. Organization of the human genome
Human transposable elements
Alu elements
LINE elements

39. Organization of the human genome
Mobile elements and gene structure
RB1 region
Alu
LINE
Simple sequence repeats