Genome Structure & Evolution Basics DNA Double Helix Histones Nucleosomes Coils Supercoils Chromatin (Eu/ Hetero) Chromosomes Gene Maping Cytogenic Linkage Physical Sequencing Shotgun Sequencing & Metagenomics Bioinformatics DNA Databases National Center for Biotechnology Information (GenBank / BLAST) European Molecular Biology Laboratory DNA Data Bank of Japan Beijing Genome Institute Applications DNA Sequence Comparisons (BLAST) Protein Sequence Prediction Protein Sequence to 3D modeling Protein Domain Comparisons Protein Domain Function Database DNA / Protein Phylogenetic Relationships Gene Annotations See Functional Analysis under Biotechnology Protein mRNA cDNA Expressed Sequence Tag Library Gene to Gene Comparisons Interspecies Comparisons Systems Approach Developmental tracking of gene expression Gene to gene relationships (epistasis, polygenic traits, pleitropy) Gene to environment interactions (epistasis, signal transduction)) cDNA vs. DNA comparison for identification of active genes Above vs. gene mapping (Linkage; Physical; Cytogenic; Sequencing; Coiling) Proteomes & Protein Relationship Analysis Examples Knock-Out Pairs Studies Protein Factor Studies Gene Chip & Medical Applications Genome Structure Interspecies Comparison Studies Size Number Gene Density Functional RNA products (tRNA; snRNA; srpRNA; mRNA; rRNA) (<1.5%) Alternative Splicing Introns (also includes miRNA & siRNA) (5%) Repetitive DNA (>95%) Functions: Possible ties to chromosome structuring & Protection (STRs) Speeding up of variation (STRs; Transposable Elements) Crossing over control (Transposable Elements) Gene expression control (Transposable Elements: Gene Promotion/Inhibition; Polymerase Inhibition)) Amplification Errors (Transposable Elements; Large Sequence Duplications) DNA Copy Errors (STRs; Large Sequence Duplications) Evolutionary process (All; i.e.: Tranposable Elements & Exon Shuffling) Types: Unique Non Coding DNA (Pseudogenes + miRNA & siRNA) (15%) Transposable Elements (>50%) Coding & Non-Coding Vast majority does not Productive Functional or Useful Protein (Normal Cellular Functions) Most of Repetitive DNA Transposition Recognition Sequence Defunct Transposable Elements DNA Aggregations & Inter-Chromosomal Exchange Transposons & Retro transposons Mechanisms Amplification (Duplication / Transposition to Active Promoter Box) Non-Homologue pairing due to transposable element relationships Examples Alu RNA of Uknown Function (300 bases) Line-1 or L1 (6500) Human genome only RNA polymerase inhibition sequences Neuron development Large Sequence Duplications (5-6%) 10-300K bases May include functional genes Simple Sequence DNA (3%) <500 bases; most <15; 2-5 = short tandem repeats Telomere / centromere regions Multigene Families (in higher level eukaryotes, this is the majority of 1.5% of coding genes) Identical or nearly identical DNA rRNA family Globins Gene Change & Evolution Polyploidy & Variation (Protection from Mutation Problems while accelerating variation) Chromosome fusion & splitting Interspecies chromosomal analysis can be used as evolutionary relationship & timeline building mechanism Chromosomal Rearrangement & Speciation Duplication & Translocations Errors During Meiosis Homologue Pairing (Transposable Elements) Slippage during DNA synthesis Protein Domain Analysis & Evidence of Exon Duplication & Shuffling in the Evolution of Genes Genome Analysis & Philogenetics Interspecies Comparisson Distant Domain Creation Similarity in Life Related Gene / Phenotype Comparisons Genome Mapping Acceleration Human / Chimp Comparison Clues about mental development More duplications & exon shuffling in humans Alu elements in humans Provirus in chimps Faster evolving human genes (transposable elements) Brain size Transciption Factors & Other regulatory genes (i.e.: FOXP2 vocalization gene) Within Species Short Tandem Repeats & Restriction Length Polymorphisms Single Nucleotide Polymorphisms (100-300 bases) Copy-Number Variant Migration & “Race” Analysis Developmental Process Comparison Conservation of Developmental Genes Among Mammals Homeobox (Hox Genes) Animal vs. Plant Development