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Human GENOME PROJECT Ethical Issues PowerPoint Presentation
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Human GENOME PROJECT Ethical Issues

Human GENOME PROJECT Ethical Issues

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Human GENOME PROJECT Ethical Issues

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  1. 2012 Marek Vácha Human GENOME PROJECTEthicalIssues

  2. Human Genome – InternalUniverse • After many centuries of investigations we have built up an approximate understanding of at least the more accesible parts of our external Universe • ...however, there is also a largely unexplored Universe within us • about 1011 neurons • and somewhere in the region of 1015 interconnections

  3. briefhistory

  4. Three StageApproach

  5. Whole-genom shotgun approachCelera Genomics

  6. Public Consortium and Celera

  7. Public Consortium x CeleraGenomicsFrancisCollinsCraigVenter

  8. Genome Gallery

  9. Galerie genomů

  10. Genome Gallery

  11. Number of Genes • Mycoplasma genitalium – 480 genes • probably 265 – 350 genes only are really irreplaceable

  12. Number of Chromosomes • Myrmecia pilosula 1 pair of chromosomes • fern Ophioglossum reticulatum 630 pairs of chromosomes

  13. Biology of the human genome

  14. Human Genome Project • officialy beagan in 1990 • the project involved 20 large sequencing centers in six countries plus a host of other labs working on small projects • largely completed in 2003 • the sequence of each chromosome was carefully analyzed and described in series of papers, the last of which covered chromosome 1 and was published in 2006

  15. Nuclear Genome and Mitochondrial Genome

  16. Human Genome

  17. Human Genome

  18. Dna sequences that code for proteins or give rise to tRNA or rRNAcompose a mere 1,5 % of the human genome • If we includeintrons and regulatorysequencesassociated with genes, the totalamount of DNA that is gene-related - coding and non-coding - constitutes about 25 % of the human genome • put another way, only about 6 % (1,5 % out of 25 %) of the lenght of the average gene is represented in the final gene product

  19. Uniquenoncoding DNA • pseudogenes • gene fragments • small noncoding RNA • the genes that produce small noncodingRNAs are a tinypercentage of the genome, distributedbetween the 20 % introns and the 15 % uniquenoncoding DNA

  20. Dispersed repeats(Jobling, M.A., et al. (2004) Human Evolutionary Genetics. New York, Garland Science

  21. Transposonmovementcopy-and-paste

  22. Retrotransposonmovementcopy-and-paste

  23. Transposableelements and relatedsequences make up 25% - 50 % of most mammaliangenomes and even higher percentages in amphibians and many plants • the very large size of some plantgenomes is accounted for not by extra genes, but by extra transposableelements • sequences like these make up 85 % of the corn genome!

  24. Human Genome

  25. Human Genome

  26. Discrepanciesbetween Chromosome Number and Sequence Lenght Chromosome 21 is bigger than 22 Chromosomes 9,10,11 are also named in the wrong order

  27. Dates of 2010 • Fritillaria assyriaca 124 billion bp • Polychaos dubia (single-celled amoeba) 670 billion bp • There is a wide range of genome sizes within the groups of protists, insects, aphibians, and plants • and less of a range within mammals and reptiles

  28. Genomes of Bacteria and Archea • genomes are „compact“ • genomes are correllated to metabolic diversity • Mycoplasma genitalium – lives inside of eucaryotic cells • genome 580 000 bp., 517 genes • Streptomyces coelicolor – soil bactery with extremely complicated metabolical pathways • genome 8,7 mil. bp., 7 846 genes

  29. Genomes of Bacteria and Archea • large genetic diversity between species • cca 15 % - 30 % of genes are unique to a species! • lateral gene transfer • Thermatoga maritima – lives in hot springs up to 80 Celsia with many Archea • up to 25 % of its genes closely related to genes of Archea ! • transferes are realized by viruses, plasmids and transpozons

  30. Genomes of Bacteria and Archea • virulence genes among patogenic bacterias often arise by lateral gene transfer

  31. Genomes of Eucarya • genes are generally orders of magnitude larger • exons are only few percent of the genome • majority of the genome are „repeated sequences“

  32. Year 2001 • approximately 50 organisms entirely or nearly entirely sequenced • 10 archea • E.coli • Saccharomyces cerevisiae • C. elegans • Arabidopsis thaliana

  33. Year 2010 • 1 200 genomes entirely sequenced • 1 000 of bacteria • 80 archeal genomes • 124 eucaryotic species

  34. 1980: one lab 1000bp a day • 2000: one lab 1000bp per second, 24 hours a day, seven days a week • first human genome: 13 years and cost $ 100 million • JamesWatson´s genome: four months (2007) for about $ 1 million • 2010: 3 humans, each $ 4 400 • 2011: one day, $ 1000, cca 1000 persons

  35. 2011 • all exons: $ 600

  36. CraigVenter´s Genome • 3 millions SNPs • 14 779 changes in protein coding regions (SNPs) • 20% never seen before • 2020 change in protein sequence (nonsynonymous aminoacid substitutions) • 12% predicted to disrupt function of proteins • 11% in disease-causing genes

  37. 2010: Homo Neanderthalensishttp://news.bbc.co.uk/2/hi/science/nature/8660940.stm • Between 1% and 4% of the Eurasian human genome seems to come from Neanderthals. Svante Paabo (pictured here with a Neanderthal skull) led the research effort

  38. Sekvenování genomu neandertálce

  39. 2010: Homo Neanderthalensishttp://www.eva.mpg.de/neandertal/index.html • The Neandertal Genome Project

  40. ethics

  41. What does it mean to be a human? Why we act as we act? } • Nature (Genes) • Nurture (Environment) • Developmental Noise • Freedom Philosophy Science

  42. James Watson • ” We used to think that our fate was in our stars. Now we know, in large part, that our fate is in our genes.“

  43. FrancisCrick • The development of biology is going to destroy to some extent our traditional grounds for ethical beliefs, and it is not easy to see what to put in their place.

  44. Zdroj:http://www.cnn.com/video/#/video/us/2007/10/19/todd.saudi.schools.cnn

  45. Zdroj:http://www.cnn.com/video/#/video/us/2007/10/19/todd.saudi.schools.cnn