Genetics: The Old and the New (and there is a Lot of Newness) Introduction Introduction Analogy to an information broker Analogy to an information broker Radical transformation of the science (i.e., what is a revolution in the sciences) Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cells operation - molecular genetics (> 1950) Genetics of cells operation - molecular genetics (> 1950) The Genetic Code The Genetic Code Genetics on the cutting edge: last five years Genetics on the cutting edge: last five years Introduction Why is an information broker important in living systems? Why is an information broker important in living systems? What constitutes a revolution in the sciences? What constitutes a revolution in the sciences? The Old: Genetics of Inheritance (1860s) Classical or Mendelian genetics (Gregory Mendel) Classical or Mendelian genetics (Gregory Mendel) Competing hypotheses Competing hypotheses Blended inheritance versus particulate inheritance Blended inheritance versus particulate inheritance Testing the hypotheses (Scientific Method!!) Testing the hypotheses (Scientific Method!!) Flower color in peas (1 parent with red flowers and 2 nd parent with white flowers) Flower color in peas (1 parent with red flowers and 2 nd parent with white flowers) Results: two classes of flowers Results: two classes of flowers Red (300 seedlings) Red (300 seedlings) White (100 seedlings) White (100 seedlings) Pink (0 seedlings) Pink (0 seedlings) Conclusion Conclusion Hypothesis: Data support the particulate theory Hypothesis: Data support the particulate theory Data reject blended theory Specific quantitative data: 3:1 ratio (strange but revealing quantitative ratio!) Specific quantitative data: 3:1 ratio (strange but revealing quantitative ratio!) Rules of Classical Mendelian Genetics (1860s) Traits passed from parent to offspring consistent with particulate inheritance model Traits passed from parent to offspring consistent with particulate inheritance model Mechanism unknown at the time (now we know) Mechanism unknown at the time (now we know) Two copies of each trait in each individual (3:1 ratio) Two copies of each trait in each individual (3:1 ratio) One from each parent One from each parent Some copies are dominant and some copies are recessive Some copies are dominant and some copies are recessive Dominant traits = expressed Dominant traits = expressed Recessive traits = expressed only if both copies recessive Recessive traits = expressed only if both copies recessive Mendelian Genetics (1860s) and Coming Forward Gene - trait determined by a sequence of DNA 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) 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!!! No longer called copies but alleles!!! Dominant allele (e.g., brown eyes) Dominant allele (e.g., brown eyes) Recessive allele (e.g., blue eyes) Recessive allele (e.g., blue eyes) Chromosomes - physical packaging of genes in nucleus Chromosomes - physical packaging of genes in nucleus Pairs of chromosomes Pairs of chromosomes Genome - all of the genes of an organism in the nucleus Genome - all of the genes of an organism in the nucleus Humans: ~20,000 genes 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 ___________. Aparticulate inheritance Bconspicuous inheritance CLamarckian inheritance Dblended inheritance ENone of the above Question The unit of inheritance documented by Mendel is now called the ___. Ahybrid Bparental strain Cgene Ddominant allele Ethe 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. Afour Bthree Ctwo Done Genes and Chromosomes DNA to Genes to Chromosomes Gene Chromosomes, Genes and Alleles Hemoglobin Chemistry Ear Lobe Eye Color: Brown Blood Group Individual One (Thee)Individual Two (Me) AO OB BlueBrownBlue Attached Free Normal Sickle Cell Genetics of Humans: Sex Determination Humans = 46 chromosomes or 23 pairs Humans = 46 chromosomes or 23 pairs Sex determination on one pair of chromosomes (Pair No. 21) Sex determination on one pair of chromosomes (Pair No. 21) X and Y chromosome X and Y chromosome Female: two X chromosomes Female: two X chromosomes Male: one X and one Y chromosome Male: one X and one Y chromosome Female produces only X chromosome eggs Female produces only X chromosome eggs Male produces both X and Y chromosome sperm Male produces both X and Y chromosome sperm Who determines the sex of offspring? Who determines the sex of offspring? Sex-linked traits examples? 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 Introduction Analogy to an information broker Analogy to an information broker Radical transformation of the science (i.e., revolution) Radical transformation of the science (i.e., revolution) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cells operation - molecular genetics (> 1950) Genetics of cells operation - molecular genetics (> 1950) The Genetic Code The Genetic Code Genetics on the cutting edge (> 2005) Genetics on the cutting edge (> 2005) Molecular Genetics Structure of DNA and RNA - information storage, transmission and expression Structure of DNA and RNA - information storage, transmission and expression Replication of the information - copying/duplication Replication of the information - copying/duplication Transcription of the information - transcribing Transcription of the information - transcribing Translation of the information - expressing as proteins (requires new language with new alphabet!) Translation of the information - expressing as proteins (requires new language with new alphabet!) Watson and Crick: a Revolution in the Sciences 1953 Double helix Watson Crick 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 Nucleotides: The Building Blocks of Nucleic Acids Nucleotide: three components Nucleotide: three components Sugar Sugar DNA: deoxyribose DNA: deoxyribose RNA: ribose RNA: ribose Phosphate group Phosphate group Base (N=4) Base (N=4) Adenine (A) Adenine (A) Guanine (G) Guanine (G) Cytosine (C) Cytosine (C) Thymine (T) Thymine (T) DNA Structure Join nucleotides Join nucleotides Alternating phosphate and sugar Alternating phosphate and sugar DNA DNA 2 strands of nucleotides 2 strands of nucleotides Joined by nitrogen base pairs (A, T, C and G) Joined by nitrogen base pairs (A, T, C and G) Bonding pattern (fidelity!) Bonding pattern (fidelity!) Adenine : Thymine Adenine : Thymine Cytosine : Guanine Cytosine : Guanine Information broker - biological alphabet (A,T,C and G) Information broker - biological alphabet (A,T,C and G) Question Nucleic acids such as DNA and RNA are polymers (macromolecules) of the monomers called ____. Aamino acids Bmonosaccharides Cnucleotides Dlipids Question While the English alphabet contains 26 letters, the biological alphabet of the DNA is based on whopping number of ___ nucleotides/letters. A2 B4 C6 D8 Question The term fidelity in base pairing of nucleotides in DNA means that the nucleotide thymine always pairs with nucleotide ___. Aeuropocil Bcytosine Canother thymine Dguanine Eadenine Genetics: The Old and the New (and there is a Lot of Newness) Introduction Introduction Analogy to an information broker Analogy to an information broker Radical transformation of the science (i.e., what is a revolution in the sciences) Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cells operation - molecular genetics (> 1950) Genetics of cells operation - molecular genetics (> 1950) The Genetic Code The Genetic Code Genetics on the cutting edge: last five years 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) DNA - Deoxyribonucleic acid (nucleus; double strand) RNA - Ribonucleic acid (protoplasm; single strand) RNA - Ribonucleic acid (protoplasm; single strand) Monomer - nucleotides (N = 4 in DNA) Monomer - nucleotides (N = 4 in DNA) Guanine (always binds to Cytosine - G:C) Guanine (always binds to Cytosine - G:C) Adenine (always binds to Thymine - A:T) Adenine (always binds to Thymine - A:T) Cytosine (always binds to Guanine - C:G) Cytosine (always binds to Guanine - C:G) Thymine (always binds to Adenine - A:T) Thymine (always binds to Adenine - A:T) Polymer - polynucleotide (DNA & RNA) Polymer - polynucleotide (DNA & RNA) Sequence of Nucleotides and Genes Linear sequences of nucleotides Linear sequences of nucleotides Gene: sequence of nucleotides responsible for a specific trait (e.g., eye color; hemoglobin; attached ear lobes, carbon metabolism, sickle cell anemia, enzyme) 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 Remember the iphone image Number of nucleotides Molecular Genetics: A Single Gene Exact sequence of nucleotides is important Exact sequence of nucleotides is important Any change in sequence changes the information (RAT to CAT) and constitutes a mutation Any change in sequence changes the information (RAT to CAT) and constitutes a mutation Daily: you experience 10,000s of mutations but all are corrected (for the most part) Daily: you experience 10,000s of mutations but all are corrected (for the most part) A T T A G C G G T A T G C C G G T T A A G A T C C G A T T A G C G G T A C G C C G G T T A A G A T C C G Molecular Genetics: General Theme Replication Molecular Genetics: Replication Replication: process of duplicating DNA to produce a new and exact copy with fidelity Replication: process of duplicating DNA to produce a new and exact copy with fidelity includes spell checking includes spell checking Molecular Genetics Replication Molecular Genetics: Transcription Information in DNA transcribed into another type of message - mRNA (messenger RNA) Information in DNA transcribed into another type of message - mRNA (messenger RNA) Analogue to transcribing spoken into written language Analogue to transcribing spoken into written language mRNA made in nucleus and subsequently shuttled to protoplasm mRNA made in nucleus and subsequently shuttled to protoplasm In protoplasm, mRNA to the ribosome (protein synthesis) In protoplasm, mRNA to the ribosome (protein synthesis) Compartmentation: Ribosome Figure 23.22 Molecular Genetics: Translation in the Ribosome Replication Molecular Genetics: Translation Information in mRNA translated into and then functional protein (new language and new letters of the alphabet!) Information in mRNA translated into polypeptide and then functional protein (new language and new letters of the alphabet!) Monomer: amino acids Monomer: amino acids Location: ribosome for protein synthesis Location: ribosome for protein synthesis Genetic code: specificity and fidelity Genetic code: specificity and fidelity All organisms and all species use the exact same process All organisms and all species use the exact same process Example: genetically modified organisms (GMOs) Example: genetically modified organisms (GMOs) Protein Synthesis and Genetic Code One gene codes for one protein One gene codes for one protein Protein drives chemical process in cell (e.g., enzymes) Protein drives chemical process in cell (e.g., enzymes) Original source of information = DNA Original source of information = DNA Intermediate source of information = RNA Intermediate source of information = RNA All living things on Earth use the absolute same genetic code All living things on Earth use the absolute same genetic code Transcription, Translation and Protein Assembly Question In the following figure, the process linking the DNA to RNA (see white arrow) is called _______. Areplication Btranscription Ctranslation Dgene splicing Question Making a copy of DNA is called ___. Areplication Btranscription Ctranslation D.photocopying Question The sum of all information contained in your DNA and copied in each cell in your body is called your ___. Agene base Bgene traits Cgenome D.genetic material Mutations and DNA Repair Mutations Mutations Change in sequence of nucleotides in DNA Change in sequence of nucleotides in DNA Causes of mutations Causes of mutations Oxygen (e.g., aging) Oxygen (e.g., aging) Nuclear radiation Nuclear radiation X-rays X-rays UV light (e.g., beach time!) UV light (e.g., beach time!) Higher elevations (e.g., mountain tops, airplanes) Higher elevations (e.g., mountain tops, airplanes) DNA Repair DNA Repair 10,000 hits per day (you and me!!) 10,000 hits per day (you and me!!) Cells repair damage - excision and repair process Cells repair damage - excision and repair process BUT . repair not equal in all individuals BUT . repair not equal in all individuals Molecular Genetics: A Single Gene (Single Strand) Exact sequence of nucleotides is important Exact sequence of nucleotides is important Any change in sequence changes the information (RAT to CAT) and constitutes a mutation Any change in sequence changes the information (RAT to CAT) and constitutes a mutation Excision and repair Excision and repair A T T A G C G G T A T G C C G G T T A A G A T C C G A T T A G C G G T A C G C C G G T T A A G A T C C G Genetics: The Old and the New Introduction Introduction Information broker Information broker Radical transformation of the science (i.e., revolution) Radical transformation of the science (i.e., revolution) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cells operation - molecular genetics (> 1950) Genetics of cells operation - molecular genetics (> 1950) The Genetic Code The Genetic Code Genetics on the cutting edge (last five years) Genetics on the cutting edge (last five years) Genetics on the Cutting Edge Genetic counseling (probability of offspring with particular traits) Genetic counseling (probability of offspring with particular traits) Forensic sciences (e.g., CSI TV series) Forensic sciences (e.g., CSI TV series) Genetic engineering : GMOs (Genetically Modified Organisms) Genetic engineering : GMOs (Genetically Modified Organisms) Genetic Sleuthing Genetic Sleuthing Human applications (e.g., ice man in the Alps + 5,000 years) Human applications (e.g., ice man in the Alps + 5,000 years) Genetic basis of autism Genetic basis of autism Genetics, mutations and cancer (next weeks lecture) Genetics, mutations and cancer (next weeks lecture) Editing of genes 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) Genetic counseling (probability of offspring with particular traits) Forensic sciences (e.g., CSI TV series) Forensic sciences (e.g., CSI TV series) Genetic engineering (e.g., starlight strain of corn) Genetic engineering (e.g., starlight strain of corn) GMOs (Genetically Modified Organisms) GMOs (Genetically Modified Organisms) Genetic Sleuthing Genetic Sleuthing Human applications (e.g., ice man in the Alps + 5,000 years) Human applications (e.g., ice man in the Alps + 5,000 years) Genetic basis of autism Genetic basis of autism Genetics, mutations and cancer (next weeks lecture) Genetics, mutations and cancer (next weeks lecture) Editing of genes Editing of genes Genetics: The Old and the New (and there is a Lot of Newness) Introduction Introduction Analogy to an information broker Analogy to an information broker Radical transformation of the science (i.e., what is a revolution in the sciences) Radical transformation of the science (i.e., what is a revolution in the sciences) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of inheritance - Mendelian genetics (> 1860) Genetics of cells operation - molecular genetics (> 1950) Genetics of cells operation - molecular genetics (> 1950) The Genetic Code The Genetic Code Genetics on the cutting edge: last five years Genetics on the cutting edge: last five years