CS 466 Introduction to Bioinformatics Instructor: Jian Peng - - PowerPoint PPT Presentation

cs 466 introduction to bioinformatics
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CS 466 Introduction to Bioinformatics Instructor: Jian Peng - - PowerPoint PPT Presentation

CS 466 Introduction to Bioinformatics Instructor: Jian Peng Important Biological Questions? Why do humans have so few genes? Can we understand DNA code? Can we understand gene function? How did cooperative behavior


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CS 466 Introduction to Bioinformatics

Instructor: Jian Peng

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“Why do humans have so few genes?”

Important Biological Questions?

“Can we understand DNA code?” “How did cooperative behavior evolve?” “Can we cure cancer?” “Can we understand gene function?” ……

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Please read “Molecular Biology for Computer Scientists” by Lawrence Hunter

Reading assignment

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DNA discovered as the physical (molecular) carrier of hereditary information DNA is a molecule: deoxyribonucleic acid Double helical structure (discovered by Watson, Crick & Franklin) Chromosomes are densely coiled and packed DNA

Heredity and DNA

  • DNA is a very “long” molecule
  • DNA in human has 3 billion base-pairs
  • String of 3 billion characters ! (about 6 feet long)
  • DNA harbors “genes”
  • A gene is a substring of the DNA string
  • A gene “codes” for a protein
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The$DNA$Molecule G -- C A -- T T -- A G -- C C -- G G -- C T -- A G -- C T -- A T -- A A -- T A -- T C -- G T -- A

=

5 3 Base$pairing$property

DNA

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Base pairing

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SOURCE:(http://www.microbe.org/espanol/news/human_genome.asp

DNA to chromosome

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What information does DNA encode?

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RNA = ribonucleic acid

  • “U” instead of “T”
  • Usually single stranded
  • Has base-pairing capability
  • Can form simple non-linear structures
  • Life may have started with RNA

What is RNA?

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  • Process of making a single stranded mRNA using double stranded DNA as

template

  • Only genes are transcribed, not all DNA
  • Gene has a transcription “start site” and a transcription “stop site”

Transcription

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  • Process of making an amino acid sequence from (single stranded) mRNA
  • Each triplet of bases translates into one amino acid
  • Each such triplet is called “codon”
  • The translation is basically a table lookup

Translation

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Protein sequence

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Amino acids

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Genetic code: lookup table

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  • DNA = nucleotide sequence
  • Alphabet size = 4 (A,C,G,T)
  • DNA to mRNA (single stranded)
  • Alphabet size = 4 (A,C,G,U)
  • mRNA to amino acid sequence
  • Alphabet size = 20
  • Amino acid sequence “folds” into 3-dimensional protein

A short summary: string transformation

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Protein folding

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Tertiary structure

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Molecular switch

Enzyme

Signaling transduction

Protein function

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Protein domains

kinase sh2 sh3

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Gene structure

One gene can be translated into multiple different proteins

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Gene expression

  • Process of making a protein from a gene as template
  • Transcription, then translation
  • Can be regulated

GENE

ACAGTGA TRANSCRIPTION FACTOR

PROTEIN GENE

TRANSCRIPTION FACTOR

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  • Chromosomal activation/deactivation
  • Transcriptional regulation
  • Splicing regulation
  • mRNA degradation
  • mRNA transport regulation
  • Control of translation initiation
  • Post-translational modification

Gene regulation

That is a “circuit” responsible for controlling gene expression

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  • The entire sequence of DNA in a cell
  • All cells have the same genome
  • All cells came from repeated duplications starting

from initial cell (zygote)

  • Human genome is 99.9% identical among individuals
  • Human genome is 3 billion base-pairs (bp) long
  • Genes and regulatory sequences make up 5% of

human genome

  • What’s the rest doing?
  • We don’t know for sure

Genome