* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download Genetics: The Information Broker
Frameshift mutation wikipedia , lookup
Genealogical DNA test wikipedia , lookup
Heritability of IQ wikipedia , lookup
Genomic library wikipedia , lookup
Human genetic variation wikipedia , lookup
Epigenetics of human development wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Nutriepigenomics wikipedia , lookup
Genetic testing wikipedia , lookup
Human genome wikipedia , lookup
Molecular cloning wikipedia , lookup
Cre-Lox recombination wikipedia , lookup
Extrachromosomal DNA wikipedia , lookup
Genetic code wikipedia , lookup
Genome evolution wikipedia , lookup
Public health genomics wikipedia , lookup
Non-coding DNA wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Deoxyribozyme wikipedia , lookup
Primary transcript wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Genome (book) wikipedia , lookup
Genetic engineering wikipedia , lookup
Point mutation wikipedia , lookup
Behavioural genetics wikipedia , lookup
Helitron (biology) wikipedia , lookup
Genome editing wikipedia , lookup
Population genetics wikipedia , lookup
Nucleic acid analogue wikipedia , lookup
Designer baby wikipedia , lookup
History of genetic engineering wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Genetics: The Old and the New (and there is a “Lot” of Newness) Introduction Analogy to an “information broker” Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cell’s operation - molecular genetics (> 1950) The “Genetic Code” Genetics “on the cutting edge”: last five years Introduction Why is an “information broker” important in living systems? What constitutes a “revolution” in the sciences? The Old: Genetics of Inheritance (1860’s) Classical or Mendelian genetics (Gregory Mendel) Competing hypotheses Blended inheritance versus particulate inheritance Testing the hypotheses (Scientific Method!!) Flower color in peas (1 parent with red flowers and 2nd parent with white flowers) Results: two classes of flowers Red (300 seedlings) White (100 seedlings) Pink (0 seedlings) Conclusion 300 100 Hypothesis: Data support the particulate theory Data reject blended theory Specific quantitative data: 3:1 ratio (strange but revealing quantitative ratio!) Rules of Classical Mendelian Genetics (1860’s) Traits passed from parent to offspring consistent with particulate inheritance model Two “copies” of each trait in each individual (3:1 ratio) Mechanism unknown at the time (now we know) One from each parent Some “copies” are dominant and some copies are recessive Dominant traits = expressed Recessive traits = expressed only if both copies recessive Mendelian Genetics (1860’s) and Coming Forward Gene - trait determined by a sequence of DNA Allele - alternative forms (“copies”) of the same gene (e.g., normal hemoglobin vs sickle cell hemoglobin; blue vs brown eyes) No longer called “copies” but alleles!!! Dominant allele (e.g., brown eyes) Recessive allele (e.g., blue eyes) Chromosomes - physical packaging of genes in nucleus Pairs of chromosomes Genome - all of the genes of an organism in the nucleus Humans: ~20,000 genes Question If you were to cross rabbits that were black with rabbits that were white and the offspring were gray, this outcome would support the theory of ___________. A B C D E particulate inheritance conspicuous inheritance Lamarckian inheritance blended inheritance None of the above Question The “unit of inheritance” documented by Mendel is now called the ___. A B C D E hybrid parental strain gene dominant allele the “Mendel” Question In genetic crosses the re-current quantitative ratio of 3:1 among offspring supports the presence of ____ copy/copies of each gene in an organism of all species of eukaryotes. A B C D four three two one Genes and Chromosomes DNA to Genes to Chromosomes Gene Chromosomes, Genes and Alleles Normal Attached Blue A Normal Hemoglobin Chemistry Attached Brown O Individual One (Thee) Ear Lobe Eye Color: Brown Blood Group Normal Sickle Cell Free Free Blue Blue B O Individual Two (Me) Genetics of Humans: Sex Determination Humans = 46 chromosomes or 23 pairs Sex determination on one pair of chromosomes (Pair No. 21) X and Y chromosome Female: two “X” chromosomes Male: one “X” and one “Y” chromosome Female produces only X chromosome eggs Male produces both X and Y chromosome sperm Who determines the sex of offspring? Sex-linked traits … examples? Complexity of the Human Genome 46 chromosomes in each human (23 pairs) ~20,000 different genes in each human Only ~1.5% of genome active … we think (stay tuned!) Millions of nucleotide differences between any two people Affymetrix Genetics: The Old and the New Introduction Analogy to an “information broker” Radical transformation of the science (i.e., revolution) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cell’s operation - molecular genetics (> 1950) The “Genetic Code” Genetics “on the cutting edge” (> 2005) Molecular Genetics Structure of DNA and RNA information storage, transmission and expression Replication of the information - copying/duplication Transcription of the information - transcribing Translation of the information - expressing as proteins (requires new language with new alphabet!) Watson and Crick: a Revolution in the Sciences 1953 Double helix Contribution of Watson and Crick: Monomer = Nucleotides (A, T, C and G) Polymer = polynucleotide (nucleic acid) 3 D Structure of Nucleic Acid = DNA Double Helix Watson Crick Nucleotides: The Building Blocks of Nucleic Acids Nucleotide: three components Sugar DNA: deoxyribose RNA: ribose Phosphate group Base (N=4) Adenine (A) Guanine (G) Cytosine (C) Thymine (T) DNA Structure Join nucleotides DNA 2 strands of nucleotides Joined by nitrogen base pairs (A, T, C and G) Bonding pattern (fidelity!) Alternating phosphate and sugar Adenine : Thymine Cytosine : Guanine Information broker “biological alphabet” (A,T,C and G) Question Nucleic acids such as DNA and RNA are polymers (macromolecules) of the monomers called ____. A B C D amino acids monosaccharides nucleotides lipids Question While the English alphabet contains 26 letters, the biological alphabet of the DNA is based on whopping number of ___ nucleotides/”letters”. A B C D 2 4 6 8 Question The term “fidelity” in base pairing of nucleotides in DNA means that the nucleotide thymine always pairs with nucleotide ___. A B C D E europocil cytosine another thymine guanine adenine Genetics: The Old and the New (and there is a “Lot” of Newness) Introduction Analogy to an “information broker” Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cell’s operation - molecular genetics (> 1950) The “Genetic Code” Genetics “on the cutting edge”: last five years Molecular Genetics: General Theme Molecular Genetics: Structure of DNA and RNA DNA - Deoxyribonucleic acid (nucleus; double strand) RNA - Ribonucleic acid (protoplasm; single strand) Monomer - nucleotides (N = 4 in DNA) Guanine (always binds to Cytosine - G:C) Adenine (always binds to Thymine - A:T) Cytosine (always binds to Guanine - C:G) Thymine (always binds to Adenine - A:T) Polymer - polynucleotide (DNA & RNA) Sequence of Nucleotides and Genes Linear sequences of nucleotides 1150 431 1225 102 Number of nucleotides 954 653 1580 Gene: sequence of nucleotides responsible for a specific trait (e.g., eye color; hemoglobin; attached ear lobes, carbon metabolism, sickle cell anemia, enzyme) Remember the iphone image Molecular Genetics: A Single Gene Exact sequence of nucleotides is important ATTAGCGGTA T G C C G G T TAAGAT C C G ATTAGCGGTA C G C C G GT TAAGAT C C G Any change in sequence changes the information (“RAT to CAT”) and constitutes a mutation Daily: you experience 10,000’s of mutations but all are corrected (for the most part) Molecular Genetics: General Theme Replication Molecular Genetics: Replication Replication: process of duplicating DNA to produce a new and exact copy with fidelity includes “spell checking” Molecular Genetics Replication Molecular Genetics: Transcription Information in DNA “transcribed” into another type of message - mRNA (messenger RNA) Analogue to transcribing spoken into written language mRNA made in nucleus and subsequently shuttled to protoplasm In protoplasm, mRNA to the ribosome (protein synthesis) Compartmentation: Ribosome Figure 23.22 23-494 Molecular Genetics: Translation in the Ribosome Replication Molecular Genetics: Translation Information in mRNA “translated” into polypeptide and then functional protein (new language and “new letters of the alphabet”!) Monomer: amino acids Location: ribosome for protein synthesis Genetic code: specificity and fidelity All organisms and all species use the exact same process Example: genetically modified organisms (GMO’s) Protein Synthesis and Genetic Code One gene codes for one protein Protein drives chemical process in cell (e.g., enzymes) Original source of information = DNA Intermediate source of information = RNA All living things on Earth use the absolute same genetic code Transcription, Translation and Protein Assembly http://www.youtube.com/watch?v=983lhh20rGY Question In the following figure, the process linking the DNA to RNA (see white arrow) is called _______. A B C D replication transcription translation gene splicing Question Making a copy of DNA is called ___. A B C D. replication transcription translation photocopying Question The sum of all information contained in your DNA and copied in each cell in your body is called your ___. A B C D. gene base gene traits genome genetic material Mutations and DNA Repair Mutations Change in sequence of nucleotides in DNA Causes of mutations Oxygen (e.g., aging) Nuclear radiation X-rays UV light (e.g., beach time!) Higher elevations (e.g., mountain tops, airplanes) DNA Repair 10,000 ‘hits’ per day (you and me!!) Cells repair damage - excision and repair process BUT …. repair not equal in all individuals Molecular Genetics: A Single Gene (Single Strand) Exact sequence of nucleotides is important ATTAGCGGTA T G C C G G T TAAGAT C C G ATTAGCGGTA C G C C G GT TAAGAT C C G Any change in sequence changes the information (“RAT to CAT”) and constitutes a mutation Excision and repair Genetics: The Old and the New Introduction Information broker Radical transformation of the science (i.e., revolution) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cell’s operation - molecular genetics (> 1950) The “Genetic Code” Genetics “on the cutting edge” (last five years) Genetics “on the Cutting Edge” Genetic counseling (probability of offspring with particular traits) Forensic sciences (e.g., CSI TV series) Genetic engineering : GMO’s (Genetically Modified Organisms) Genetic “Sleuthing” Human applications (e.g., ice man in the Alps + 5,000 years) Genetic basis of autism Genetics, mutations and cancer (next week’s lecture) Editing of genes Genetic Counseling Genetic Counseling using “Gene Chips” Forensic Sciences Genetics “on the Cutting Edge” Genetic counseling (probability of offspring with particular traits) Forensic sciences (e.g., CSI TV series) Genetic engineering (e.g., “starlight” strain of corn) Genetic “Sleuthing” GMO’s (Genetically Modified Organisms) Human applications (e.g., ice man in the Alps + 5,000 years) Genetic basis of autism Genetics, mutations and cancer (next week’s lecture) Editing of genes Genetics: The Old and the New (and there is a “Lot” of Newness) Introduction Analogy to an “information broker” Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cell’s operation - molecular genetics (> 1950) The “Genetic Code” Genetics “on the cutting edge”: last five years