Concept 12.1 : There are powerful methods for sequencing genomes and analyzing gene products.
• The goal of sequencing genomes is to identify mutations in DNA and relate them to phenotypes (ie. Understanding genetics)
• Human Genome Project- 13 year project, used chemically modified nucleotides
• Next generation DNA sequencing- uses miniaturization techniques 1st developed for electronics industry, as well as principles of DNA replication and the polymerase chain reaction (PCR).
• Massivley Parallel Sequencing- In next generation sequencing, when millions of fragments are sequenced at the same time
• Functional genomics- biologists use sequence information …show more content…
to identify functions of various parts of genomes.
• Open reading frames- part of genome; coding regions of genes
• Amino acid sequences of proties- deduced DNA sequences of open reading frames by applying genetic code.
• Regulatory sequences- promoters and terminators for transcription
• RNA genes- including rRNA, tRNA,small nuclear RNA, and microRNA genes.
• Other non coding sequences- classified into various categories, including centrometric and telemetric regions, transposons, repetitive sequences
• Comparative genomics- comparison of a newly sequenced genome with sequences from other organisms
*Phenotypes can be analyzed using proteomics and metabolomics
• Genetic determinism- idea that person’s phenotype is determined solely by their genotype.
• Proteomics- has gel electrophoresis and mass spectrometry analyzes proteins. Seeks to identify and characterize all the expressed proteins.
• Proteome- sum total of proteins produced by an organism, more complex than genome
• Gel Electrophoresis- separates proteins using charge size, and unique amino acid combinations.
• Mass spectrometry- identify molecules by masses of their atoms, determine structures of molecules, peak graphs
• Metabolomics- aims to describe the metabolome of a tissue or organism under particular environmental conditions.
• Metabolome- quantitative description of all the metabolites in a cell or organism
• Primary Metabolites- hormones, signaling other molecules; normal processes such as glycolysis
• Secondary Metabolites- unique particular organisms or groups of organisms, special responses to environment (ie defense mechanisms)
Concept 12.2: Prokaryotic Genomes Are relatively Small and Compact
• Haemophilus Influenze- 1st complete genomic sequence of a free living cellular organism, ear infections, meningitis
• Bacterial and archeal gemones- relatively small, compact, genes do not normally contain introns, plasmids.
• Mycoplasma genitalium- enabled scientists to recognize hiw missing genes and effect function
*Some sequences of DNA can move about the genome
• Transposons- move from place to place in a genome and can even move from one piece of DNA to another in the same cell. (plasmid). 1000-2000 by and found in prokaryotic genomes. Useful for Antibiotics and stuffs.
• Metagenomics- coined to describe the approach of analyzing genes without isolating the intact organism. Microbial world uncovered by this
*Will defining the genes required for cellular life lead to artificial life?
• Universal genes- present in all organisms
• Nearly universal genes- present in many organisms
• You can deliberately mutate organisms to discover minimal genomes
• Minimal genome- ancient set DNA sequences common to all cells.
Concept 12.3: Eukaryotic Genomes are both large and complex.
• Eukaryotic genomes are larger than those of prokaryotes- they have more protein coding genes.
• Eukaryotic genes have more regulatory sequences and more regulatory proteins
• Much of eukaryotic dna is noncoding
*Model organisms reveal many characteristics of eukaryotic genomes.
• Yeast- single celled eukaryotes; basic eukaryotes model
• Nematode-has extra genes that encode for cell differentiation, intercellular communication, formation of tissues.
• Drosophilia Melanogaster- genetics and development
• Orthologs-genes with very similar sequences, suggests plants and animals have a common ancestor.
• Arabidopis-has genes unique to plants, photosynthesis, uptake of water, cell wall ect.-similar to rice
• Gene families- copies of genes undergo several mutations creating closely related genes
• Pseudogenes- nonfunctional, result from mutations can cause a loss of function
*Eukaryotic Genomes Carry many repetitive sequences
• Highly Repetitive Sequences-short sequences repeated in tandem arrangements in genome. (not transcribed)
• Tandem- side by side
• Short tandem repeats- can be repeated up to 100 times at a particular chromosomal location. The copy number of an STR at a particular location varies between individuals and is inherited.
• Moderately repetitive sequences- repeated 10-1000 times in eukaryotic
genome;rRNAs,tRNAs
• Retrotransposons-make RNA copies of themselves, which are then copied back into DNA before insertions at new locations at the genome.
• LTR retrotransposons-long terminal repeats of a dna sequence, 8% of human genome
• Non LTR retrotransposons-no LTR sequences at ends. Further divided into SINEs and LINEs.
• SINEs- short interspersed elements; 100 bp long, transcribed but not translated;15% of total DNA content
• Alu Element- type of SINE;11 percent of the human genome; it is present in a million copies.
• LINEs-long interspersed elements;7000 bp, transcribed and translated into protiens;17% of human genome
• DNA transposons-no RNA intermediates; excised and inserted at new location without replication
Concept 12.4: The Human Genome Sequence has Many Applications
• Among the 3.2 billion bp in the haploid human genome, there are about 24,000 protein-coding genes.
• The average gene spans 27,000 bp. Gene sizes vary greatly, from about 1,000 to 2.4 million bp.
• Virtually all human genes have many introns.
• At least 3.5 percent of the genome is functional but noncoding. These sequences have roles in gene regulation (ir are transcribed to microRNAs) or in chromosome structure (ie telomere DNA).
• Over 50 percent of the genome is made up of transposons and other repetitive sequences.
• Most of the genome (at least 97 percent) is the same in all people.
*Human Genomics has Potential Benefits in Medicine
• Haplotype maps-identify genes involved in disease; based on SNPs
• Single nucleotide polymorphisms (SNPs)- DNA variations that involve single nucleotides; occur because of point mutations; genetic maps, classification of species
• Haplotype-piece of chromosome with a set of linked SNPs
• DNA microarray- grid of microscopic spots of oligonucleotides arrayed on a solid surface.
• Pharmacogenomics- study of how an individual’s genome affects his or her respose to drugs and other agents
• DNA fingerprinting -group of techniques used to identify particular individuals by their DNA; the most common of these techniques involves STR analysis.