1' The Human Genome project: overview'

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Lecture 10 - Outline

• 1. The Human Genome project overview.
• Mapping strategies.
• Types of maps.
• 4. Gene discovery
• and finding.
• 5. SNPs.
• Model organisms.
• Genetic engineering.
• Future studies.
• Gene prediction software.

Sitemap Human Genome Project


http//www.sanger.ac.uk/sitemap/hgp.shtml
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Genomes of Important Model Organisms
http//www.ornl.gov/hgmis/faq/compgen.html
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How Many Genes ?
The most surprising conclusion that emerged from
the HGP is that we have gt 30,000 genes, twice
the number of a fruit fly The genome size, and
the number of genes, are NOT a good measure for
organisms complexity. Similar Genes but
different gene arrangement.
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Human Genome and Other Organisms Genome

• In human, many proteins may be produced from
  one gene. More protein families (especially those
  associated with development and immunity).
• Human genes have relatives in other
• organisms genome. These may highlight
• genes function.
• Human DNA is 98 identical to chimpanzee DNA.
  The average amount of genetic difference between
  any two chimpanzees is 4 or 5 times more than the
  average
• difference between any two humans, which is 0.1.
  
• Note Chimp Genome Assembled by Sequencing
  Centers. Draft Sequence Aligned With Human Genome
  ! BETHESDA, Md., Dec. 10, 2003.

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Model Organisms

• Model organisms offer a way to follow inheritance
  of
• genes through many generations in a relatively
  short time.
• Mice genetically similar to human,
• reproduce fast,
• have short life span,
• inexpensive and easy to handle.
• Upon completion of the sequencing stage of the
  HGP,
• many open questions remains
• Function of most of the (estimated) gt 30,000
  genes.
• Role of gene variations.
• Function of non-coding regions and repeats.

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How Closely Related are the Mouse Human ?
Mouse Sequencing Begins
Oct. 1999
Finished Dec. 2002
Similarity between human and mice
genes is in the 70-90 range. Mice and human
have roughly the same number of nucleotides in
the genome (3 billion bp). For most genes,
there is one-to-one correspondence between mouse
human genes.
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Mouse and Human Not So Far Apart
Mouse chromosomes
Human chromosomes
Approx. 150 cut and paste operations may
transform humans into mice.
http//www.ornl.gov/hgmis/publicat/tko/06_img.html

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STS - Sequence Tagged Sites Short (about 200-500
bp) sequences that are unique in a genome (i.e.,
can be specifically detected by PCR in the
presence of all other genomic sequences), and
that define a specific position on the physical
map.
http//www.ncbi.nlm.nih.gov/Homology/
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Lecture 10 - Outline

• 1. The Human Genome project overview.
• Mapping strategies.
• Types of maps.
• 4. Gene discovery
• and finding.
• 5. SNPs.
• Model organisms.
• Genetic engineering.
• Future studies.
• Gene prediction software.

Sitemap Human Genome Project


http//www.sanger.ac.uk/sitemap/hgp.shtml
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1997 Breakthrough of the year - cloning Dolly
View animation at http//vector.cshl.org/cloning.
html (requires Flash Player)
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Genetically Engineered Food
http//homepage.smc.edu/hgp/history.htm
http//www.goma.demon.co.uk/index.html
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Lecture 10 - Outline

• 1. The Human Genome project overview.
• Mapping strategies.
• Types of maps.
• 4. Gene discovery
• and finding.
• 5. SNPs.
• Model organisms.
• Genetic engineering.
• Future studies.
• Gene prediction software.

Sitemap Human Genome Project


http//www.sanger.ac.uk/sitemap/hgp.shtml
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Future of the Human Genome
http//www.globecartoon.com/neweconomy/13.html
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The Next Step
Locate all the genes and describe their
function. This will probably take another 15-20
years !
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Future Studies
Using the information provided by the HGP, we
could find genes responsible for genetic
diseases and the cure for them. In the past,
researchers studied a gene at a time. At
present, researchers are trying to find
interactions between genes, or study many
proteins in a tissue, organ or tumor, and find
how the genes and their proteins they made
determine the chemistry which produce life.
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What Happens when HGP is Completed ?

• Known genes number, location, function and
  regulation.
• Chromosomal structure and organization.
• Non-coding DNA types, amount, distribution and
  function.
• Coordination of gene expression, protein
  synthesis, and post-
• translation events. Proteome function.
• Interaction of proteins in complex molecular
  machines.
• Evolutionary conservation among organisms,
  protein conservation
• (structure and function).
• Correlation of SNPs with health and disease.
• Genes involved in complex traits and multi-gene
  diseases.

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Future of Genomic Research
http//www.usgenomics.com/technology/index.shtml
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The Future of Genome Studies
Transcriptomics - Analysis of mRNA transcribed
from functional genome. Understanding of when,
where and in what conditions genes are
expressed. Proteomics - Gene expression to
protein function. This subject has a major
importance for drug design. Structural Genomics
- Creating 3D structure of proteins. This may
give a clue for function and location of
proteins, and may help in drug design. Comparativ
e Genomics - Find patterns in DNA or protein
sequences of human and other organisms, and from
there elaborate about human genes
function. Transgenic or Knockout Studies -
Insertion or abolition of a human gene from an
organism and examining its function. These model
organisms may serve to study diseases at the
molecular level, new drugs may be tested and
designed.