Genome
Analysis
Importance
A gene is sequenced to predict its function or to manipulate its
activity/ expression.
Availability of genome sequence provides,
- The sequences of all the genes of an organism.
So that ,
- Important genes and
- Disease process can be studied.
Goals and Challenges
Goals:
1. Identification of genes that are predicted to have a function
2. Design of experiments to test that prediction
Challenges:
1. Gene prediction
2. Phylogenetic history
3. Presence of repetitive sequences
4. Genome rearrangements
Hapmap project
One of the efforts to identify the important sequence variations in
humans that can be used to identify disease risk or sensitivity to
drugs.
It tracks the size and the location of common blocks and haplotype
variations of each block.
Genome anatomy
Prokaryotic genomes
sequencing project
- First bacterial genome to be sequenced
- Size 1.8 X 106
- Hemophilus influenza 58% of 1743 predicted genes matched
to E.coli K-12 genes of known function
Once the assembled genome was available, ORFs were identified
and compared to known protein sequences.
Criteria for selection
1. They had been subjected to significant biological analysis
e.g., E.coli and B.subtilis
2. They were an important human pathogen
e.g., M.tuberculosis and M.pneumoniae
3. They were of phylogenetic interest and likely to reveal
information about the evolution of bacteria.
Eukaryotic genomes
Differ from prokaryotic genomes by having,
- Chromosomes within a nucleus
- Large genomes
- Tandem repeats of sequences
- Introns in protein coding genes
Sequence repeats
Eukaryotic genomes often have many tandem repeats of the same
sequence.
They vary in,
- Size
- Number
- Location in the genome
- Location in specific regions
Some times they may be present on movable elements
Satellite DNA
Repeats are made of the same sequence
Skewing effect
DNA with different buoyant densities
Satellite DNA
Heterochromatin and
Euchromatin
Heterochromatin
- Due to compact configuration, take light stain
- Role: Centromeres and Telomeres found near heterochromatin
Euchromatin
- Due to less compact configuration darkly stained
- Region to be transcribed
Types of Satellite DNA
Satellites:
- Composed of repeats of 1000 to several 1000 bases in very
large tandem arrays up to 100 million bases long.
- Present typically near centromeres and telomeres
Minisatellites:
- Made up of repeats of approximately 15 bases in length in
arrays highly variable in length.
- typically located in the euchromatin
Microsatellites:
- Made up of repeats of 2–6 bases long in arrays that are
highly variable in length.
- typically present in euchromatin and centromere
Transposable elements
Eukaryotic TEs
1. Class I:
- LTR (Long Terminal Repeats)
- Retrosposons (SINES, LINES)
- Retro virus like elements with LTRs
2. ClassII:
3. MITES (Miniature, Inverted repeat TEs)

Genome analysis

  • 1.
  • 2.
    Importance A gene issequenced to predict its function or to manipulate its activity/ expression. Availability of genome sequence provides, - The sequences of all the genes of an organism. So that , - Important genes and - Disease process can be studied.
  • 3.
    Goals and Challenges Goals: 1.Identification of genes that are predicted to have a function 2. Design of experiments to test that prediction Challenges: 1. Gene prediction 2. Phylogenetic history 3. Presence of repetitive sequences 4. Genome rearrangements
  • 4.
    Hapmap project One ofthe efforts to identify the important sequence variations in humans that can be used to identify disease risk or sensitivity to drugs. It tracks the size and the location of common blocks and haplotype variations of each block.
  • 5.
  • 6.
    Prokaryotic genomes sequencing project -First bacterial genome to be sequenced - Size 1.8 X 106 - Hemophilus influenza 58% of 1743 predicted genes matched to E.coli K-12 genes of known function Once the assembled genome was available, ORFs were identified and compared to known protein sequences.
  • 7.
    Criteria for selection 1.They had been subjected to significant biological analysis e.g., E.coli and B.subtilis 2. They were an important human pathogen e.g., M.tuberculosis and M.pneumoniae 3. They were of phylogenetic interest and likely to reveal information about the evolution of bacteria.
  • 9.
    Eukaryotic genomes Differ fromprokaryotic genomes by having, - Chromosomes within a nucleus - Large genomes - Tandem repeats of sequences - Introns in protein coding genes
  • 10.
    Sequence repeats Eukaryotic genomesoften have many tandem repeats of the same sequence. They vary in, - Size - Number - Location in the genome - Location in specific regions Some times they may be present on movable elements
  • 11.
    Satellite DNA Repeats aremade of the same sequence Skewing effect DNA with different buoyant densities Satellite DNA
  • 12.
    Heterochromatin and Euchromatin Heterochromatin - Dueto compact configuration, take light stain - Role: Centromeres and Telomeres found near heterochromatin Euchromatin - Due to less compact configuration darkly stained - Region to be transcribed
  • 13.
    Types of SatelliteDNA Satellites: - Composed of repeats of 1000 to several 1000 bases in very large tandem arrays up to 100 million bases long. - Present typically near centromeres and telomeres Minisatellites: - Made up of repeats of approximately 15 bases in length in arrays highly variable in length. - typically located in the euchromatin Microsatellites: - Made up of repeats of 2–6 bases long in arrays that are highly variable in length. - typically present in euchromatin and centromere
  • 14.
  • 15.
    Eukaryotic TEs 1. ClassI: - LTR (Long Terminal Repeats) - Retrosposons (SINES, LINES) - Retro virus like elements with LTRs 2. ClassII: 3. MITES (Miniature, Inverted repeat TEs)