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DDEEOOXXYYRRIIBBOONNUUCCLLEEIICC 
AACCIIDD 
DDNNAA
History 
• Before the 1940’s scientists didn’t know 
what material caused inheritance. 
• They suspected it was either DNA or 
proteins.
History 
• A series of experiments proved that DNA 
was the genetic material responsible for 
inheritance.
History 
• In 1952, Alfred 
Hershey and Martha 
Chase did an 
experiment using a 
virus that infects E. 
coli bacteria. 
• The experiment 
proved that DNA and 
not protein is the 
factor that influences 
inheritance.
History 
• Erwin Chargaff 
discovered the base 
pairing rules and ratios 
for different species. 
• Adenine pairs with 
Thymine 
• Cytosine pairs with 
Guanine.
History 
• Rosalind Franklin & Maurice Wilkins had 
taken the 1st pictures of DNA using X-ray 
crystallization
This proved that DNA had a helical 
shape.
History 
• The Nobel Prize in Medicine 1962 
Francis Harry Compton Crick 
James Dewey Watson 
Maurice Hugh Frederick Wilkins 
Rosalind Franklin 
(Died of cancer 1958)
Watson Crick 
Wilkins has become a 
historical footnote and 
Watson & Crick are 
remembered as the 
Fathers of DNA
James Watson & Francis Crick 
1953 
• Constructed a 
model for DNA 
structure 
• Awarded the Nobel 
Prize in 1962
BIOLOGY FORM 5 CHAPTER 5 - 5.3 A (DNA)
Human chromosomes
• Important Note: Most DNA is found in the 
nucleus. Small amounts of DNA are found in 
the mitochondria organelle (mtDNA) 
–Learn more abaout mtDNA at http://en.wikipedia.org/wiki/Mitochondrial_DNA
Chromosome – thread like twisted structure 
found in the nucleus
http://www.brooklyn.cuny.edu/bc/ahp/LAD/C4/C4_Chromosomes.html 
Chromosomes are made up of protein and DNA
Genes 
• A basic unit of 
inheritance 
• Occupies a specific 
position (locus) in a 
chromosome
DNA 
Gene 
-a segment of DNA 
-that determines a 
trait 
-Eg. eye colour
• The molecule of DNA 
- two strands coiled 
together to form a 
“double helix”. 
Right hand 
twist
• Each of the two 
strands is made up of 
small units called 
nucelotides.
Each nucleotide is itself 
made up of three 
chemical groups: 
1.Phosphate 
2.Sugar 
3.Nitrogenous base
There are four 
different kinds of 
base 
1.Adenine (A) 
2.Guanine (G) 
3.Cytosine (C) 
4.Thymine (T)
C always pairs with G 
A always pairs with T
The 2 strands of 
DNA are held 
together by the 
hydrogen bonds 
between the 
complimentary 
bases.
The sequence of 
bases, (the order of A 
G C and T’s) carries 
the information that 
the genes contain. 
• Sequence of three 
bases – codon 
• Codon - code for a 
specific amino acid. 
• Amino acids make up 
proteins from which all 
living things are made.
• Some codons 
actually carry 
instructions like 
full stops to end 
messages, or 
starting points.
DNA REPLICATION
DNA 
• During S stage 
in interphase, 
DNA replicates 
itself.
DNA 
• You end up 
with 2 identical 
strands of 
DNA.
Gene Protein 
Gene = segment of DNA 
= specifies the 
sequence of amino acids 
in a polypeptide chain of 
a protein. 
Every gene is a code for 
a particular protein.
RNA 
Ribonucleic acid
RNA 
• Function: obtain 
information from 
DNA & synthesizes 
proteins
RNA - 4 differences from DNA 
1. Single strand 
instead of double 
strand 
2. Ribose instead of 
deoxyribose 
3. Uracil instead of 
thymine 
1. No helix structure
3 types of RNA 
1. mRNA (messenger): takes a message from the nucleus to the 
ribosomes in the cytoplasm 
2. tRNA (transfer): transfers amino acids to the ribosomes 
3. rRNA (ribosomal): along with proteins, makes up the ribosomes 
where polypeptides are synthesized.
Genes code for RNA 
RNA codes for protein.
Transcription - mRNA is made from 
DNA & goes to the ribosome 
Translation - Proteins are made from the 
message on the mRNA
Translation 
• At the ribosome, 
amino acids (AA) 
are linked together 
to form specific 
proteins. 
• The amino acid 
sequence is 
directed by the 
mRNA molecule. 
ribosome 
Amino acids
VIDEO 
FROM DNA TO PROTEIN
A chromosome is a long sequence
BIOLOGY FORM 5 CHAPTER 5 - 5.3 A (DNA)
• Scientists have 
recently 
completed 
mapping the 
position of every 
base in human 
DNA. 
• This massive 
project is called 
the Human 
Genome Project
Human Genome Project 
Aim: 
Determine the entire sequence of the 
human genome. 
Problem: 
It’s really big! 
3 billion base pairs
Model organisms 
Phil Hieter 
Sequenced / in progress:
Two Different Groups Worked to 
Obtain the DNA Sequence of the 
Human Genome 
• The HGP is a multinational consortium 
established by government research 
agencies and funded publicly. 
• Celera Genomics is a private company 
whose former CEO, J. Craig Venter, ran 
an independent sequencing project.
Published 
• The International Human Genome 
Sequencing Consortium published their 
results in Nature, 409 (6822): 860-921, 
2001. 
“Initial Sequencing and Analysis of the 
Human Genome” 
• Celera Genomics published their results in 
Science, Vol 291(5507): 1304-1351, 2001. 
– “The Sequence of the Human Genome”
Completion of the genome 
“Working Draft” 
Completion expected 
April 2003 
“Complete”
Benefit 
- Identification of genes that cause disease 
- Diagnoses, treatments and possible 
prevention of many ailment 
- Screen genetic disorder 
- Track genes that is responsible for certain 
disease 
- Test compatibility for potential organ 
donor 
 DNA samples –– hhaaiirr,, ssaalliivvaa,, bblloooodd,, sseemmeenn
Genome Sequencing 
Genome: 3 Gb 
Cut genome into large pieces 
Clone into BACs: 100 kb 
Order based on sequence features (markers) = mapping 
Cut again 
Assemble entire sequence 
…TTGTAAGTGAGAACAGGACGTATGTGGTTTTCTACTCCTGTGTT… 
TTGTAAGTGAGAACA 
Sequence AGAACAGGACGTATGTGGT 
TGTGGTTTTCTACTCC 
CTACTCCTGTGTT 
Assemble 
each BAC
What does the sequence mean? 
TCACAATTTAGACATCTAGTCTTCCACTTAAGCATATTTAGATTGTTTCCAGTTTTCAGCTTTTATGACTAAATCTTCTAAAATTGTTTTTCCCTAAATGTATATTTTAATTTGTCTCAGGAGTAGAATTTCTGAGTCATAAAGCGG 
TCATATGTATAAATTTTAGGTGCCTCATAGCTCTTCAAATAGTCATCCCATTTTATACATCCAGGCAATATATGAGAGTTCTTGGTGCTCCACATCTTAGCTAGGATTTGATGTCAACCAGTCTCTTTAATTTAGATATTCTAGTAC 
ATACAAAATAATACCTCAGTGTAACCTCTGTTTGTATTTCCCTTGATTAACTGATGCTGAGCACATCTTCATGTGCTTATTGACCATTAATTAGTCTTATTTGTTAAATGTCTCAAATATTTTATACAGTTTTACATTGTGTTATTC 
ATTTTTTAAAAAATTCATTTTAGGTTATATGTATGTGTGTGTCAAAGTGTGTGTACATCTATTTGATATATGTATGTCTATATATTCTGGATACCATCTCTGTTTCATGCATTGCATATATATTTGCCTATTTAGTGGTTTATCTTT 
TCATTTTCTTTTGGTATCTTTTCATTAGAAATGTTATTTATTTTGAGTAAGTAACATTTAATATATTCTGTAACATTTAATGAATCATTTTATGTTATGTTTAGTATTAAATTTCTGAAAACATTCTATGTATTCTACTAGAATTGT 
CATAATTTTATCTTTTATATACATTGATATTTTTATGTCAAATATGTAGGTATGTGATATTATGCACATGGTTTTAATTCAGTTAATTGTTCTTCCAGATGTTTGTACCATTCCAACATCATTTAAATCATTAAATGAAAAGCCTTT 
CCTTACTAGCTAGCCAGCTTTGAAAATCCATTCATAGGGTTTGTGTTAATATATTTTTGTTCTTTTTTTTCCTTTCTACTGATCTCTTTATATTAATACCTACTGTGGCTTTATATGAAGTCATGGAATAATACGTAGTAAGCCCTC 
TAACACTGTTCTGTTACTGTTGTTATTGTTTTCTCAGGGTACTTTGAAATATTCGAGATTTTATTATTTTTTAGTAGCCTAGATTTCAAGATTGTTTTGACGATCAATTTTTGAATCAATTGTCAATATTTTTAGTAATAAAATGAT 
GATTTTTGATTGGAAATACATTAAATCTATAAGCCAAATTGGAGATTATTGATATATTAACAAAAATGAGTTTTCCAGTCCATGAATGTATGCACATTATAAAATTCATTCTTAAGTATGTCATTTTTTAAGTTTTAGTTTCAGCAG 
TATATGTTTGTTACATAGGTAAACTCCTGTCATGGGGGTTAGTTGTACAGGTTATTTTATCATCCAGGCATAAAGCCCAGTACCCAGTAGTTATCTTTTCTGCTCCTCTCCCTCCTGTCACCCTCCACTCTCAAGTAGACCCCAGTT 
TCTGTTGTTCTCTTCTTTGCATTAATGACTTCTCATCATTTAGATTGCACTTGTAAGTGAGAACAGGACGTATGTGGTTTTCTACTCCTGTGTTAGTTTGCTAAGGATAACCACCTCCATCTCCATCCATGTTCCCACAAAAGACAT 
GATCTCCTTTTTTATGGCTGCATATTATTCCATGGTATATATGTACCACATTTTCTTTATCCAATCTGTCATTGATGGACATTTAGGTTGTTTCCACATCATTGCCGTTGTAAATACTGCTGCAGTGAATATTCGTGTGTATGTCTT 
TATGGTAGAATGATTTATATTCCTCTGGGTATATTTCCAAGTAATGGGATGGTTGGGTCAAATGGTAATTCTGCTTTTAGCTTTTTGAGGAATTGCCATATTGCCTTTCACAACGGTTGAACTAATTTATACTCCCAAGAGTGTATA 
AGTTGTTCCTTTTTCTCTGCAACCTCGACATCACCTGTTATTTATGACTTTTATATAATAGCCATTCTGCTGGTCTGAGATGGTATCTCATTATGATTTTGATTTGCATTTCTCTAATGCTCAGTGATATTGAGCTTGGCTGCATAT 
ATGTCTTCTTTTAAAAATATCTGTTCATGTCCTTTGCCTAATTTATAACGGGGTTGTTTGTTTTTCTCTTGTAAATTTGTTTAAGTTCCTTATAGATTCTAGGTATTAAACCTTTTTTCAGAGGCGTGGCTTGCAAATATTTTCTCC 
CATTCTATAGGTTGTCTGTTTATTCTGTTGATAGTTTCCCTTGCTGTGCAGAAGCTCTTAACTTTAATTAGATCCGACTTGTCAATTTTTGCTTTGGTCGCAATTGCTTTTGATGTTATTGTCGTGAAATCTTTGCTAGTTCTTAGG 
TCCAGGATGATATTGCCCAAGTTGTCTTCCAGGGCTTTTATAATTTTGGATTTTACATTTAAGTCTTAATATATTTATTAAATTTGTTAGGGTTTCAGGATACAAGGACAATATAGCAGCAAACAATGTAAAAGTAAAATCTGAAAA 
ATAATAGAAAACAGTTTAATTGAACACTTTACCATTATGTAATGCCCTTCTTTGTCTTTCCTGATCTTTGTTGGTTTGAAGTTCAAAAAAGACAAACTTAATGGTACAATAGGTATTGTAGATTTCAGGACTTTCTGTATAAAATAT 
TTTGTATATATGAATAGATCATTTTTTATTTCCAGTCTTTAAACATTTTCTTAACATTTTCTTCTATTGCTTCACTTCACTCGCTAGGACCATCAGGACAGTGTTGAACAGAAATTGTCAGACTGATCATCACAACTTTTTCTAGAT 
TTTAGAAGGAAATTTTTCTTTATTTCAACATAAAGCAGCATGTTAATGCCAAGTTTTAATATGTGTTATCAGATTGAAATTTTTTTGTATATTTCTACATTACCAAGAATTTTTAGCAAGAGTTTTTGTTGAGTTTTAATTTAAAAA 
TCATTTGTTAATTTCATCTGATTTTTTTATTTCTCTTTTTACCTTAAGAGATTAAACTGACTACAGATTGAATATAAACAAACAAACAAACAAACAAAAACTCTAAAATGCTGTGGATCAACACCACTTAGTAATTTGTATACTTGG 
ATTCAATTTGCTGAAATTTTGTTAGACATTTTTGCGTCGATATTTATGAGGGATGTTGATCTGTAAAAGTATTAAAATGCCTTTGACAGATTTTGATAGCAGTGTTATTCTGGCCTAATAAATCAAACTGAGGTATGATCCTTCCTT 
TTCTATTTCTTAATAGCATTTTTAAAATTGGTGGTTTTTTCCTTCCTTAGTGAAATTTACCAGCAAAGTAACAGGCCTTATATTTCTCTTGTGGAAATATTTTAATTTCAAATTAATGGTATTTTGTTCTTGTAGGGTGGTAATTTT 
CTCTGTGTTTGGTCTTAATGGACTCTTAGCTGATCACCCAGTTACTCAGCGAGGTCTCTTCACTCTGGAAGAGCTGGAACTCCAGTGTGTTTTAGTGCAGCATGACCACGGGTATTACCGTTCAACATTTAGGCTTTATCAGTGATA 
ACTATTTGTCCTCATGGAGTTTTTGCCGCTGGGCCTACACAGTTTAGGCTTCAGCTTAGAACACATAATGAATTCTTATGCAGATTTCTGCCCACCTTTGACCTTTCATGATTTCCTCTTCTTGGGTAAGCTGCCTTATTAATCTGA 
TACACTTCAGCAGTCCAGAACTACACTCTTTCCCTTCTCTGCTCTTGGAGATGACTCTTTTGTCTGAGATTCACTTTGCTGTGCTGAAAAAGAAAAGTGCTTCAAGGAAGATACCAAGGAAAATCACAGGGCTCATTTATGTATTTC 
TCTTCTTTCAAGGACTACAGCTTTGTGTTGCCTATGTTCAATTTCTGAAAATAATTAGAGCATATATACTCTGTGTGAGAAGGCAAATCCAGACAGTTAGTTTGTATGACTAGAAGCAGAAGTCTACATGGAGAATTTTACTTAACT 
GTGTTATAGTTTCTTTAATTATTTCAAGAGTATGTTTAATGTTCCACAGATCTCATTCTATAAATCTTTATCATCTTAGAGCTCTGATACTATTTAGAATTACTATTCCTTCAAATAAGAGATTAGAAACAGGGTTATATTTGGGGT 
AGGTTGACTTACTTTTCTGGGAACCAAAGCATATTAAATTGACCAGTTTTAACACACTTCTATGTATGCACAAAGATATATATTTACATTCTGCAAAATCATTCTTTCCTTTTTGAATTTGAAAAGGATCTTTGGTATACAGATATT 
CAATAGCCAGCCTGAAGATTCATTTGAATTCATTTAATGTTTAGATTCACTACATGAAATGATCCAGAAGAGAGTACTCAAATATAAGTATCTATAACGATGGAAATATACATCTCCACTGCCCAAGATGGTAGTCATGAGTCAATA 
TTGATCATGTGAGACGTGGCAAGTGTTACTCAGGGTCTCAATATTTAAATGTATTAAGCTTTAATTAATGTAAATTTGAATTTAGCAAAACATGTATAGCTTGTGGTTACTGTTTTATTCAGTGCCAATATAGAACATTTCCATGAT 
TACAGAAAGTTATCTTAGAATACTCAGTTCTGGACTATTTTATCTGGCTAAATTAAATGTTAAAATATTACAAATTCATCTTCAGGCTGGCTGTTGAATATTTTTATAGCAAAAGTCATTTATAAATTTAAAACTCAAATAATTATC 
TTTTTCAATATGTAAAATATGTCTTTACATATTCTACTCCCTTCTTACATACATATTCTGATGTAACATAGGTATTCTCTTATTCATGCACACTGAAATGACAACATAAATAATTTTACTAAGTGTCACCATATAAAAAACTTTGAA 
CAAAATCAGATTATATCACTGTGGATATTTCTATTTTGAACTAACTTAGATGATAATTTTAATCTATATCCTAGATGAACTTTAAATCAATAAAATCTCTCAATGGTGTTATAAATCTCAAGCCATTAGCCACTGATTATCCCATTT 
TTATTCTTTTCATATTAATTTTATTGCCATGTATGAATGCTGTAGCATCCATGTTTAAATACTAGTTAACAAAATGCACTGGCATCAGATACAATAAGGATGAAATGAGATATAATTAGGACTCTGGTAACACACATAAAATTGGAA 
AGATACCCTGAAATTCAAGCCAAGAAGATATTTATCCAGCTTATTTTATTTTGAGACAGAGTCTTGCTCTCTCACTCAGGCTGGAGTGCAGTGGACCATTCTAGGCTCGCTCCAACCTCTGTCTCCCAAATTGAAGTAATTCTCGTG 
CCTCAATCTCCCGAGTAGCTGGGATTACAGGCATGTGTCACCAAGCCTGGCTGATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGACTGGAACACCTCGGCCTCCT 
AAAGTGCTGGGATTACAGACGAGAGCCACTGAACAGCTTTGATCCAACTTATTTGGATGAATGAGTTACATATTTTACATTAAATCTGTTATTGTGATAATTCTTCATGTTATTTTCCATGTATAGATTTATATATAATGTAATTTT 
AATTTTTTTTCACCGGAGAGTATAAACAACAATTATTTTATAAACAGGATAATAAAAATAAGACAAAAATTGTTGAAATGTCTTCATTTGACTACTAACTTTTTACATGTTTGTTACTTTGAAGCTGTTATCAATACTTGTGATGTA 
TTACAATTAAGTAAAGATTTAAAGATGCCATTTTTAACTTATTATGACACAAAGTCTATAAATTCTTATATTTTGAGATTTGTATTTAAATAACTTGTGAAATTTAATTTTAAAATAAAATTTCTTCTATGGATTGGTCTTCAATCG 
AGGCATAAAAAGGAATATAACAGTGTGGCACTATAACTTCTATATTGAATTTCTATATTATTTAACACAATTATAATTTTGCTAATGAATTGTAATGTTTTTAAAAAGCTAGGTGAATTTTATTAAATTCATTACATGGCGATAACA 
CAGAGAAAACATTTTGGGGATTCTTTTAAAATGGTATGTACAAAAGCTTAAAAGTTGTTATGTAGTGGCAGAGATAAAAAAGTAAAACAAAAAAAAGCTTAAAAGTTTGCTTTACTATTTATAGGCTCATAAGTGTAAGTGTGCCAG 
AAAATGAAAAAGAAAGGAGAGAAATTATAAATAACTGTGTGGAAAACACAGATAAAGCATAAAGATAGAATATAAAGATAGAAGCATTTTAATATGAGGCAGTGATGGCTTTTTGAAGAATCCCAACTAAGGACCTACTTTTAGTTA 
ATAAATAATATGTTTCTAATCCCTATATTGTCCACAGCAACCTTTTTAGGACATGGAGCAGTGACTATGAGTGCCAGAAGGCAAGAGTAGAAGCAATTGTAAAATCATGAACACTAGTTTGTAAAATCCTCACTGAGATATAATATC 
TGTTTGCCTCTACCTTAGAATTATTAATGTCTTGAGGGCTGGGA 
A very small piece of chromosome 21
Genomic structure 
• 3 GB 
• ~50% repetitive 
• Only 3% protein coding!
www.nature.com 
The age of complete genomic sequences
TTHHEE EENNDD

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BIOLOGY FORM 5 CHAPTER 5 - 5.3 A (DNA)

  • 2. History • Before the 1940’s scientists didn’t know what material caused inheritance. • They suspected it was either DNA or proteins.
  • 3. History • A series of experiments proved that DNA was the genetic material responsible for inheritance.
  • 4. History • In 1952, Alfred Hershey and Martha Chase did an experiment using a virus that infects E. coli bacteria. • The experiment proved that DNA and not protein is the factor that influences inheritance.
  • 5. History • Erwin Chargaff discovered the base pairing rules and ratios for different species. • Adenine pairs with Thymine • Cytosine pairs with Guanine.
  • 6. History • Rosalind Franklin & Maurice Wilkins had taken the 1st pictures of DNA using X-ray crystallization
  • 7. This proved that DNA had a helical shape.
  • 8. History • The Nobel Prize in Medicine 1962 Francis Harry Compton Crick James Dewey Watson Maurice Hugh Frederick Wilkins Rosalind Franklin (Died of cancer 1958)
  • 9. Watson Crick Wilkins has become a historical footnote and Watson & Crick are remembered as the Fathers of DNA
  • 10. James Watson & Francis Crick 1953 • Constructed a model for DNA structure • Awarded the Nobel Prize in 1962
  • 13. • Important Note: Most DNA is found in the nucleus. Small amounts of DNA are found in the mitochondria organelle (mtDNA) –Learn more abaout mtDNA at http://en.wikipedia.org/wiki/Mitochondrial_DNA
  • 14. Chromosome – thread like twisted structure found in the nucleus
  • 16. Genes • A basic unit of inheritance • Occupies a specific position (locus) in a chromosome
  • 17. DNA Gene -a segment of DNA -that determines a trait -Eg. eye colour
  • 18. • The molecule of DNA - two strands coiled together to form a “double helix”. Right hand twist
  • 19. • Each of the two strands is made up of small units called nucelotides.
  • 20. Each nucleotide is itself made up of three chemical groups: 1.Phosphate 2.Sugar 3.Nitrogenous base
  • 21. There are four different kinds of base 1.Adenine (A) 2.Guanine (G) 3.Cytosine (C) 4.Thymine (T)
  • 22. C always pairs with G A always pairs with T
  • 23. The 2 strands of DNA are held together by the hydrogen bonds between the complimentary bases.
  • 24. The sequence of bases, (the order of A G C and T’s) carries the information that the genes contain. • Sequence of three bases – codon • Codon - code for a specific amino acid. • Amino acids make up proteins from which all living things are made.
  • 25. • Some codons actually carry instructions like full stops to end messages, or starting points.
  • 27. DNA • During S stage in interphase, DNA replicates itself.
  • 28. DNA • You end up with 2 identical strands of DNA.
  • 29. Gene Protein Gene = segment of DNA = specifies the sequence of amino acids in a polypeptide chain of a protein. Every gene is a code for a particular protein.
  • 31. RNA • Function: obtain information from DNA & synthesizes proteins
  • 32. RNA - 4 differences from DNA 1. Single strand instead of double strand 2. Ribose instead of deoxyribose 3. Uracil instead of thymine 1. No helix structure
  • 33. 3 types of RNA 1. mRNA (messenger): takes a message from the nucleus to the ribosomes in the cytoplasm 2. tRNA (transfer): transfers amino acids to the ribosomes 3. rRNA (ribosomal): along with proteins, makes up the ribosomes where polypeptides are synthesized.
  • 34. Genes code for RNA RNA codes for protein.
  • 35. Transcription - mRNA is made from DNA & goes to the ribosome Translation - Proteins are made from the message on the mRNA
  • 36. Translation • At the ribosome, amino acids (AA) are linked together to form specific proteins. • The amino acid sequence is directed by the mRNA molecule. ribosome Amino acids
  • 37. VIDEO FROM DNA TO PROTEIN
  • 38. A chromosome is a long sequence
  • 40. • Scientists have recently completed mapping the position of every base in human DNA. • This massive project is called the Human Genome Project
  • 41. Human Genome Project Aim: Determine the entire sequence of the human genome. Problem: It’s really big! 3 billion base pairs
  • 42. Model organisms Phil Hieter Sequenced / in progress:
  • 43. Two Different Groups Worked to Obtain the DNA Sequence of the Human Genome • The HGP is a multinational consortium established by government research agencies and funded publicly. • Celera Genomics is a private company whose former CEO, J. Craig Venter, ran an independent sequencing project.
  • 44. Published • The International Human Genome Sequencing Consortium published their results in Nature, 409 (6822): 860-921, 2001. “Initial Sequencing and Analysis of the Human Genome” • Celera Genomics published their results in Science, Vol 291(5507): 1304-1351, 2001. – “The Sequence of the Human Genome”
  • 45. Completion of the genome “Working Draft” Completion expected April 2003 “Complete”
  • 46. Benefit - Identification of genes that cause disease - Diagnoses, treatments and possible prevention of many ailment - Screen genetic disorder - Track genes that is responsible for certain disease - Test compatibility for potential organ donor  DNA samples –– hhaaiirr,, ssaalliivvaa,, bblloooodd,, sseemmeenn
  • 47. Genome Sequencing Genome: 3 Gb Cut genome into large pieces Clone into BACs: 100 kb Order based on sequence features (markers) = mapping Cut again Assemble entire sequence …TTGTAAGTGAGAACAGGACGTATGTGGTTTTCTACTCCTGTGTT… TTGTAAGTGAGAACA Sequence AGAACAGGACGTATGTGGT TGTGGTTTTCTACTCC CTACTCCTGTGTT Assemble each BAC
  • 48. What does the sequence mean? TCACAATTTAGACATCTAGTCTTCCACTTAAGCATATTTAGATTGTTTCCAGTTTTCAGCTTTTATGACTAAATCTTCTAAAATTGTTTTTCCCTAAATGTATATTTTAATTTGTCTCAGGAGTAGAATTTCTGAGTCATAAAGCGG TCATATGTATAAATTTTAGGTGCCTCATAGCTCTTCAAATAGTCATCCCATTTTATACATCCAGGCAATATATGAGAGTTCTTGGTGCTCCACATCTTAGCTAGGATTTGATGTCAACCAGTCTCTTTAATTTAGATATTCTAGTAC ATACAAAATAATACCTCAGTGTAACCTCTGTTTGTATTTCCCTTGATTAACTGATGCTGAGCACATCTTCATGTGCTTATTGACCATTAATTAGTCTTATTTGTTAAATGTCTCAAATATTTTATACAGTTTTACATTGTGTTATTC ATTTTTTAAAAAATTCATTTTAGGTTATATGTATGTGTGTGTCAAAGTGTGTGTACATCTATTTGATATATGTATGTCTATATATTCTGGATACCATCTCTGTTTCATGCATTGCATATATATTTGCCTATTTAGTGGTTTATCTTT TCATTTTCTTTTGGTATCTTTTCATTAGAAATGTTATTTATTTTGAGTAAGTAACATTTAATATATTCTGTAACATTTAATGAATCATTTTATGTTATGTTTAGTATTAAATTTCTGAAAACATTCTATGTATTCTACTAGAATTGT CATAATTTTATCTTTTATATACATTGATATTTTTATGTCAAATATGTAGGTATGTGATATTATGCACATGGTTTTAATTCAGTTAATTGTTCTTCCAGATGTTTGTACCATTCCAACATCATTTAAATCATTAAATGAAAAGCCTTT CCTTACTAGCTAGCCAGCTTTGAAAATCCATTCATAGGGTTTGTGTTAATATATTTTTGTTCTTTTTTTTCCTTTCTACTGATCTCTTTATATTAATACCTACTGTGGCTTTATATGAAGTCATGGAATAATACGTAGTAAGCCCTC TAACACTGTTCTGTTACTGTTGTTATTGTTTTCTCAGGGTACTTTGAAATATTCGAGATTTTATTATTTTTTAGTAGCCTAGATTTCAAGATTGTTTTGACGATCAATTTTTGAATCAATTGTCAATATTTTTAGTAATAAAATGAT GATTTTTGATTGGAAATACATTAAATCTATAAGCCAAATTGGAGATTATTGATATATTAACAAAAATGAGTTTTCCAGTCCATGAATGTATGCACATTATAAAATTCATTCTTAAGTATGTCATTTTTTAAGTTTTAGTTTCAGCAG TATATGTTTGTTACATAGGTAAACTCCTGTCATGGGGGTTAGTTGTACAGGTTATTTTATCATCCAGGCATAAAGCCCAGTACCCAGTAGTTATCTTTTCTGCTCCTCTCCCTCCTGTCACCCTCCACTCTCAAGTAGACCCCAGTT TCTGTTGTTCTCTTCTTTGCATTAATGACTTCTCATCATTTAGATTGCACTTGTAAGTGAGAACAGGACGTATGTGGTTTTCTACTCCTGTGTTAGTTTGCTAAGGATAACCACCTCCATCTCCATCCATGTTCCCACAAAAGACAT GATCTCCTTTTTTATGGCTGCATATTATTCCATGGTATATATGTACCACATTTTCTTTATCCAATCTGTCATTGATGGACATTTAGGTTGTTTCCACATCATTGCCGTTGTAAATACTGCTGCAGTGAATATTCGTGTGTATGTCTT TATGGTAGAATGATTTATATTCCTCTGGGTATATTTCCAAGTAATGGGATGGTTGGGTCAAATGGTAATTCTGCTTTTAGCTTTTTGAGGAATTGCCATATTGCCTTTCACAACGGTTGAACTAATTTATACTCCCAAGAGTGTATA AGTTGTTCCTTTTTCTCTGCAACCTCGACATCACCTGTTATTTATGACTTTTATATAATAGCCATTCTGCTGGTCTGAGATGGTATCTCATTATGATTTTGATTTGCATTTCTCTAATGCTCAGTGATATTGAGCTTGGCTGCATAT ATGTCTTCTTTTAAAAATATCTGTTCATGTCCTTTGCCTAATTTATAACGGGGTTGTTTGTTTTTCTCTTGTAAATTTGTTTAAGTTCCTTATAGATTCTAGGTATTAAACCTTTTTTCAGAGGCGTGGCTTGCAAATATTTTCTCC CATTCTATAGGTTGTCTGTTTATTCTGTTGATAGTTTCCCTTGCTGTGCAGAAGCTCTTAACTTTAATTAGATCCGACTTGTCAATTTTTGCTTTGGTCGCAATTGCTTTTGATGTTATTGTCGTGAAATCTTTGCTAGTTCTTAGG TCCAGGATGATATTGCCCAAGTTGTCTTCCAGGGCTTTTATAATTTTGGATTTTACATTTAAGTCTTAATATATTTATTAAATTTGTTAGGGTTTCAGGATACAAGGACAATATAGCAGCAAACAATGTAAAAGTAAAATCTGAAAA ATAATAGAAAACAGTTTAATTGAACACTTTACCATTATGTAATGCCCTTCTTTGTCTTTCCTGATCTTTGTTGGTTTGAAGTTCAAAAAAGACAAACTTAATGGTACAATAGGTATTGTAGATTTCAGGACTTTCTGTATAAAATAT TTTGTATATATGAATAGATCATTTTTTATTTCCAGTCTTTAAACATTTTCTTAACATTTTCTTCTATTGCTTCACTTCACTCGCTAGGACCATCAGGACAGTGTTGAACAGAAATTGTCAGACTGATCATCACAACTTTTTCTAGAT TTTAGAAGGAAATTTTTCTTTATTTCAACATAAAGCAGCATGTTAATGCCAAGTTTTAATATGTGTTATCAGATTGAAATTTTTTTGTATATTTCTACATTACCAAGAATTTTTAGCAAGAGTTTTTGTTGAGTTTTAATTTAAAAA TCATTTGTTAATTTCATCTGATTTTTTTATTTCTCTTTTTACCTTAAGAGATTAAACTGACTACAGATTGAATATAAACAAACAAACAAACAAACAAAAACTCTAAAATGCTGTGGATCAACACCACTTAGTAATTTGTATACTTGG ATTCAATTTGCTGAAATTTTGTTAGACATTTTTGCGTCGATATTTATGAGGGATGTTGATCTGTAAAAGTATTAAAATGCCTTTGACAGATTTTGATAGCAGTGTTATTCTGGCCTAATAAATCAAACTGAGGTATGATCCTTCCTT TTCTATTTCTTAATAGCATTTTTAAAATTGGTGGTTTTTTCCTTCCTTAGTGAAATTTACCAGCAAAGTAACAGGCCTTATATTTCTCTTGTGGAAATATTTTAATTTCAAATTAATGGTATTTTGTTCTTGTAGGGTGGTAATTTT CTCTGTGTTTGGTCTTAATGGACTCTTAGCTGATCACCCAGTTACTCAGCGAGGTCTCTTCACTCTGGAAGAGCTGGAACTCCAGTGTGTTTTAGTGCAGCATGACCACGGGTATTACCGTTCAACATTTAGGCTTTATCAGTGATA ACTATTTGTCCTCATGGAGTTTTTGCCGCTGGGCCTACACAGTTTAGGCTTCAGCTTAGAACACATAATGAATTCTTATGCAGATTTCTGCCCACCTTTGACCTTTCATGATTTCCTCTTCTTGGGTAAGCTGCCTTATTAATCTGA TACACTTCAGCAGTCCAGAACTACACTCTTTCCCTTCTCTGCTCTTGGAGATGACTCTTTTGTCTGAGATTCACTTTGCTGTGCTGAAAAAGAAAAGTGCTTCAAGGAAGATACCAAGGAAAATCACAGGGCTCATTTATGTATTTC TCTTCTTTCAAGGACTACAGCTTTGTGTTGCCTATGTTCAATTTCTGAAAATAATTAGAGCATATATACTCTGTGTGAGAAGGCAAATCCAGACAGTTAGTTTGTATGACTAGAAGCAGAAGTCTACATGGAGAATTTTACTTAACT GTGTTATAGTTTCTTTAATTATTTCAAGAGTATGTTTAATGTTCCACAGATCTCATTCTATAAATCTTTATCATCTTAGAGCTCTGATACTATTTAGAATTACTATTCCTTCAAATAAGAGATTAGAAACAGGGTTATATTTGGGGT AGGTTGACTTACTTTTCTGGGAACCAAAGCATATTAAATTGACCAGTTTTAACACACTTCTATGTATGCACAAAGATATATATTTACATTCTGCAAAATCATTCTTTCCTTTTTGAATTTGAAAAGGATCTTTGGTATACAGATATT CAATAGCCAGCCTGAAGATTCATTTGAATTCATTTAATGTTTAGATTCACTACATGAAATGATCCAGAAGAGAGTACTCAAATATAAGTATCTATAACGATGGAAATATACATCTCCACTGCCCAAGATGGTAGTCATGAGTCAATA TTGATCATGTGAGACGTGGCAAGTGTTACTCAGGGTCTCAATATTTAAATGTATTAAGCTTTAATTAATGTAAATTTGAATTTAGCAAAACATGTATAGCTTGTGGTTACTGTTTTATTCAGTGCCAATATAGAACATTTCCATGAT TACAGAAAGTTATCTTAGAATACTCAGTTCTGGACTATTTTATCTGGCTAAATTAAATGTTAAAATATTACAAATTCATCTTCAGGCTGGCTGTTGAATATTTTTATAGCAAAAGTCATTTATAAATTTAAAACTCAAATAATTATC TTTTTCAATATGTAAAATATGTCTTTACATATTCTACTCCCTTCTTACATACATATTCTGATGTAACATAGGTATTCTCTTATTCATGCACACTGAAATGACAACATAAATAATTTTACTAAGTGTCACCATATAAAAAACTTTGAA CAAAATCAGATTATATCACTGTGGATATTTCTATTTTGAACTAACTTAGATGATAATTTTAATCTATATCCTAGATGAACTTTAAATCAATAAAATCTCTCAATGGTGTTATAAATCTCAAGCCATTAGCCACTGATTATCCCATTT TTATTCTTTTCATATTAATTTTATTGCCATGTATGAATGCTGTAGCATCCATGTTTAAATACTAGTTAACAAAATGCACTGGCATCAGATACAATAAGGATGAAATGAGATATAATTAGGACTCTGGTAACACACATAAAATTGGAA AGATACCCTGAAATTCAAGCCAAGAAGATATTTATCCAGCTTATTTTATTTTGAGACAGAGTCTTGCTCTCTCACTCAGGCTGGAGTGCAGTGGACCATTCTAGGCTCGCTCCAACCTCTGTCTCCCAAATTGAAGTAATTCTCGTG CCTCAATCTCCCGAGTAGCTGGGATTACAGGCATGTGTCACCAAGCCTGGCTGATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGATGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGACTGGAACACCTCGGCCTCCT AAAGTGCTGGGATTACAGACGAGAGCCACTGAACAGCTTTGATCCAACTTATTTGGATGAATGAGTTACATATTTTACATTAAATCTGTTATTGTGATAATTCTTCATGTTATTTTCCATGTATAGATTTATATATAATGTAATTTT AATTTTTTTTCACCGGAGAGTATAAACAACAATTATTTTATAAACAGGATAATAAAAATAAGACAAAAATTGTTGAAATGTCTTCATTTGACTACTAACTTTTTACATGTTTGTTACTTTGAAGCTGTTATCAATACTTGTGATGTA TTACAATTAAGTAAAGATTTAAAGATGCCATTTTTAACTTATTATGACACAAAGTCTATAAATTCTTATATTTTGAGATTTGTATTTAAATAACTTGTGAAATTTAATTTTAAAATAAAATTTCTTCTATGGATTGGTCTTCAATCG AGGCATAAAAAGGAATATAACAGTGTGGCACTATAACTTCTATATTGAATTTCTATATTATTTAACACAATTATAATTTTGCTAATGAATTGTAATGTTTTTAAAAAGCTAGGTGAATTTTATTAAATTCATTACATGGCGATAACA CAGAGAAAACATTTTGGGGATTCTTTTAAAATGGTATGTACAAAAGCTTAAAAGTTGTTATGTAGTGGCAGAGATAAAAAAGTAAAACAAAAAAAAGCTTAAAAGTTTGCTTTACTATTTATAGGCTCATAAGTGTAAGTGTGCCAG AAAATGAAAAAGAAAGGAGAGAAATTATAAATAACTGTGTGGAAAACACAGATAAAGCATAAAGATAGAATATAAAGATAGAAGCATTTTAATATGAGGCAGTGATGGCTTTTTGAAGAATCCCAACTAAGGACCTACTTTTAGTTA ATAAATAATATGTTTCTAATCCCTATATTGTCCACAGCAACCTTTTTAGGACATGGAGCAGTGACTATGAGTGCCAGAAGGCAAGAGTAGAAGCAATTGTAAAATCATGAACACTAGTTTGTAAAATCCTCACTGAGATATAATATC TGTTTGCCTCTACCTTAGAATTATTAATGTCTTGAGGGCTGGGA A very small piece of chromosome 21
  • 49. Genomic structure • 3 GB • ~50% repetitive • Only 3% protein coding!
  • 50. www.nature.com The age of complete genomic sequences

Editor's Notes

  • #51: This is just a simple schematic to try and put us all on the same page with regard to what I’m talking about. A person’s genome or “book of life” as it is sometimes referred to is our entire genetic endowment. First there are Trillions of cells within the body and for the most part each cell contains 46 chromosomes or approximately 2 meters of DNA if stretched out. These chromosomes contain approximately 3 billion DNA subunits or nucleotides. These nucleotides are A, C, T, or G. Strings of these nucleotides make up the genes and based on current estimates there are roughly 30,000 genes encoding proteins that perform all the functions required for the human body.