1 / 41

Organization of the human genome

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

tiana
Télécharger la présentation

Organization of the human genome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


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

  2. 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

  3. Organization of the human genome Limited autonomy of mt genomes mt encodednuclear 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.

  4. 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)

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

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

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

  8. 09_07.jpg

  9. 09_07_2.jpg

  10. 09_07_3.jpg

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

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

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

  14. 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

  15. 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

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

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

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

  19. Organization of the human genome • Formation of higher order repeat units

  20. Organization of the human genome • Human transposable elements

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

  22. Organization of the human genome • Human transposable elements • Alu elements • LINE elements

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

More Related