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

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

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.

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)

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

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

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

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

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

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

Organization of the human genome Clustered gene families Growth hormone 5 copies (67kb) aglobin 7 copies (50kb) Hox genes (multi) 38 four clusters Olfactory receptors 1000 in 25 large clusters

Organization of the human genome Interspersed gene families Pax 9 copies Actin >20 copies Alu elements (repeats) 1.1 million LINE elements (L1) 200-500,000

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

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

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

Organization of the human genome Formation of higher order repeat units

Organization of the human genome Human transposable elements

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

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

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