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Introduction to Bioinformatics
Human Genome Project
A New
Disease
Encyclopedia
Goals
• Identify the approximate 40,000 genes
in human DNA
• Determine the sequences of the 3 billion
bases that make up human DNA
• Store this information in database
• Develop tools for data analysis
• Address the ethical, legal and social
issues that arise from genome research
Genome
Health
Implications
New Genetic
Fingerprints
New
Diagnostics
New
Treatments
2
Bioinformatics
IT
BT
Biocomputing
3
What is Bioinformatics?
Bio – molecular biology
Informatics – computer science
Bioinformatics – solving problems arising from
biology using methodology from computer
science.
4
Basics in Molecular Biology
5
Chromosomes

DNA in a human cell: 2m
 DNA in a human body: 2 1011 km
 Earth-to-Sun: 1.5  108 km
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DNA(Deoxyribonucleic Acid)

Nucleotide들로 구성
Nucleotide = Sugar + Phosphate + Nitrogenous base
Adenine – Thymine
Guanine – Cytosine

Double Helix 구조
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DNA Base-pairs
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DNA
AACCTGCGGAAGGATCATTACCGAGTGCGG
GTCCTTTGGGCCCAACCTCCCATCCGTGTCT
ATTGTACCCGTTGCTTCGGCGGGCCCGCCG
CTTGTCGGCCGCCGGGGGGGCGCCTCTGC
CCCCCGGGCCCGTGCCCGCCGGAGACCCC
AACACGAACACTGTCTGAAAGCGTGCAGTCT
GAGTTGATTGAATGCAATCAGTTAAAACTTTC
AACAATGGATCTCTTGGTTCCGGCATGCAAT
CAGTCCCGTTGCTTCGGCACTGTCTGAAAGC
GCCTTTGGGCCCAACCTCCCATCCGTGTCTA
TTGTACCCGTTGCTTCGGCGGGCCCGCCGC
TTGTCGGCCGCCGGGGGGGCGCCGTTGCTT
CGGCGGGCCCGCCGCTTGTCGGCCGCCGG
GGCTATTGTACCCGTTGCTTCGGATCTCTTG
GGGATCTCTTGGTTCCGGCATGCAATCAGTC
CCGTTGCTTCGGCACTGTCTGAAAGCGCCTT
TGGGCCCAACCTCCCACCGTTGCTTCGGCG
GGCCCGCCGCTTGTCGGCCGCCGGGGGGG
CGGCCGCCGGGGGCACTGTCTGAAAGCTCG
GCCGCC
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Some Facts






DNA differs between humans by 0.2%, (1 in 500
bases).
Human DNA is 98% identical to that of
chimpanzees.
97% of DNA in the human genome has no known
function.
3.2*109 letters in the DNA code in every cell in
your body.
1014 cells in the body.
12,000 letters of DNA decoded by the Human
Genome Project every second.
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Gene and Genome

Gene
Fundamental unit of heredity
단백질을 합성하는데 필요한 정보 포함
Genome의 일부

Genome
생명체가 갖는 전체 DNA
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Numbers of Genes

Humans
25,000 - 40,000

C. elegans (worm):
19,000

S. cerevisiae (yeast)
6,000

Tuberculosis microbe
4,000
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RNA(Ribonucleic Acid)

A, C, G, U(Uracil)
 mRNA
DNA에서 gene을 transcription하여 세포 내에서 단백
질을 합성하는 기관인 ribosome에 정보 전달

tRNA
Ribosome이 아미노산을 만들 때, mRNA와 아미노
산 사이의 adaptor 역할을 함
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Molecular Biology: Flow of
Information (Central Dogma)
DNA
“gene”
RNA
Protein
Folded
Protein
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DNA (gene)
control
statement
RNA
TATA
start
Protein
Termination
stop
control
statement
gene
Ribosome
binding
5’ utr
Transcription (RNA polymerase)
mRNA
3’ utr
Translation (Ribosome)
Protein
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Codon
tRNA는 3개의 nucleic acid와 결합  codon
 조합 개수 64  20가지의 아미노산, stop codon
지정
 하나의 codon은 하나의 amino acid를 만들고
amino acid가 결합하여 단백질을 형성한다.

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Genetic Code: 3 bases=1amino acid
First
Position
(5’ end)
T
C
A
G
Second position
T
C
Phe
Phe
Leu
Leu
Leu
Leu
Leu
Leu
Ser
Ser
Ser
Ser
Third
Position
(3’ end)
A
G
Cys
Cys
STOP
Trp
Arg
Arg
Arg
Arg
T
C
A
G
lle
lle
Lle
Met
Pro
Pro
Pro
Pro
Thr
Thr
Thr
Thr
Tyr
Tyr
STOP
STOP
His
His
Gln
Gln
Asn
Asn
Lys
Lys
Ser
Ser
Arg
Arg
Val
Val
Val
Val
Ala
Ala
Ala
Ala
Asp
Asp
Glu
Giu
Gly
Gly
Gly
Gly
T
C
A
G
T
C
A
G
T
C
A
G
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Protein Structure
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Human Genetic Variations
(Single Nucleotide Polymorphisms)
SNP’s- “genetic individuality”
 ~1/1000 bases variable (2 humans)
 Make us more/less susceptible to diseases
 May influence the effect of drug treatments

TTTGCTCCGTTTTCA
TTTGCTCYGTTTTCA
TTTGCTCTGTTTTCA
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SNP (Single Nucleotide
Polymorphism)

Finding single nucleotide changes at specific regions of
genes

Diagnosis of hereditary diseases
 Personal drug
 Finding more effective drugs and
treatments
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Human Individuality
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Flood of Data! (SWISS-PROT)
Number of sequences x 1000
80
70
60
50
40
30
20
10
0
1988
1990
1992
1994
1996
Year of release
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How Can We Analyze the Flood
of Data?

Data: don’t just store it, analyze it! By
comparing sequences, one can find out
about things like
ancestors of organisms
phylogenetic trees
protein structures
protein function
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Bioinformatics Is About:

Elicitation of DNA sequences from genetic
material
 Sequence annotation (e.g. with information from
experiments)
 Understanding the control of gene expression (i.e.
under what circumstances proteins are transcribed
from DNA)
 The relationship between the amino acid sequence
of proteins and their structure.
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Aim of Research in Bioinformatics

Understand the functioning of living things – to
“improve the quality of life”.
Drug design
Identification of genetic risk factor
Gene therapy
Genetic modification of good crops and animals, etc
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Extension of Bioinformatics
Concept

Genomics
 Functional genomics
 Structural genomics



Proteomics: large scale
analysis of the proteins of
an organism
Pharmacogenomics:
developing new drugs that
will target a particular
disease
Microarray: DNA chip,
protein chip
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