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ECE 501 Introduction to BME ECE 501 Dr. Hang Part VII Bioinformatics ECE 501 Dr. Hang What is Bioinformatics Bioinformatics describes any use of computers to handle biological information. In practice it is treated as a synonym for "computational molecular biology“ ----the use of computers to characterize the molecular components of living things. Introduction to Molecular Biology - Genome Genome: The entire genetic information of an individual organism Gene: The basic unit of genetic information Introduction to Molecular Biology - Genome Introduction to Molecular Biology - Genome Nuclear genome and mitochondrial genome Introduction to Molecular Biology - DNA Genes are made of deoxyribonucleic acid (DNA) Introduction to Molecular Biology - DNA DNA is a linear polymer in which the monomeric subunits are four chemically distinct nucleotides that can be linked together in any order in chains hundreds, thousands or even millions of units in length. Introduction to Molecular Biology - DNA Sugar is deoxyribose Pyramidine: C, T; Purine: A, G Introduction to Molecular Biology - DNA A short DNA polynucleotide Introduction to Molecular Biology - DNA Double Helix Introduction to Molecular Biology - DNA (a) B (b) A (c) Z Introduction to Molecular Biology - RNA • Sugar is ribose • Thymine is replaced by Uracil (U) RNA is a linear polynucleotide containing A, U, C, and G. Introduction to Molecular Biology – Central Dogma DNA RNA Protein Introduction to Molecular Biology – Human Genome The length of human genome: 5000km (2.6 billion base pairs) Introduction to Molecular Biology – Human Genome The structure of a protein-coding gene Exon: A coding region within a discontinuous gene. Intron: A non-coding region within a discontinuous gene Introduction to Molecular Biology – Genome Anatomy • 1 Gene: TRY4 • 2 Gene Segments: V28 & V29-1 • 1 Pseudogene: TRY5 • 52 genome wide repeat sequences: LINE, SINE, LTR, & DNA transposon. • Two Microsatellites A segment of human genome (on chromosome 7) Introduction to Molecular Biology – Human Genome Mitochondrial Genome Introduction to Molecular Biology – Genome Anatomy Comparison of the genomes of humans, yeast, fruit flies, maize and Escherichia coli. Introduction to Molecular Biology – Genome Anatomy Genome = non-coding DNA + coding DNA Introduction to Molecular Biology – Genome Anatomy Prokaryotic Genome: •More compact •No introns •Gene=coding DNA •Infrequency of repetitive sequences Introduction to Molecular Biology – Genome Anatomy Eukaryotic Genome: •Non-coding DNA including introns, •Exon=coding DNA •Gene=Exons+Introns •More advanced species, more repetitive sequences Introduction to Molecular Biology – Genome Anatomy Eukaryotic Gene Introduction to Molecular Biology – Genome Anatomy Protein-coding Genes Introduction to Molecular Biology – Genome Anatomy Protein – coding Genes: Alternative Splicing Introduction to Molecular Biology – Genome Anatomy Reading frame: A series of triplet codons in a DNA sequence. Six reading frames Introduction to Molecular Biology – Genome Anatomy Open reading frames (ORFs) • a series of codons in DNA/RNA that specify the amino acid sequence of the protein that the gene codes for • begins with an initiation codon - usually (but not always) ATG • ends with a termination codon: TAA, TAG or TGA Introduction to Molecular Biology – Genome Anatomy Example of ORF Introduction to Molecular Biology – Genome Anatomy Genetic code (RNA) Introduction to Molecular Biology – Genome Anatomy Non-coding genes: Encode RNAs • Ribosomal RNAs (rRNAs) •Transfer RNAs (tRNAs) •Small nuclear RNA (snRNA ): mRNA processing •Small nucleolar RNA (snoRNA): rRNA processing •Small cytoplasmic RNA (scRNA): ? Introduction to Molecular Biology – Genome Anatomy Gene segment: •only segments of a gene •must be linked to other gene segments from elsewhere in the locus before being expressed Introduction to Molecular Biology – Genome Anatomy Pseudogene: non-functional copy of a gene •Conventional: caused by mutation (deletion, insertion etc.) •Processed: Introduction to Molecular Biology – Genome Anatomy Repetitive DNA: •interspersed repeats: distributed at random •tandemly repeated DNA : placed next to each other Introduction to Molecular Biology – Genome Anatomy interspersed repeats: •SINE: Short interspersed element •LTR: Long terminal repeat •LINE: Long interspersed element •DNA transposon: Mobile DNA segment Introduction to Molecular Biology – Genome Anatomy tandem repeats : •Satellite: •Microsatellite: fewer copies