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 encodednuclear NADH dehydrog 7 subunits>41 subunits Succinate CoQ red0 subunits4 subunits Cytochrome b-c1 comp1 subunit10 subunits Cytochrome C oxidase 3 subunits10 subunits ATP synthase complex2 subunits14 subunits tRNA components22 tRNAsnone rRNA components 2 componentsnone Ribosomal proteins none ~80 Other mt proteinsnonemtDNA 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

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

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

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

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

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

23. Organization of the human genome Clustered gene families Growth hormone5 copies (67kb)  globin7 copies (50kb) Hox genes (multi) 38 four clusters Olfactory receptors1000 in 25 large clusters

24. Organization of the human genome Interspersed gene families Pax9 copies Actin>20 copies Alu elements (repeats)1.1 million LINE elements (L1)200-500,000

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

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

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

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

34. Organization of the human genome Human transposable elements

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

38. Organization of the human genome Human transposable elements –Alu elements –LINE elements

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