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PROTEIN SYNTHESIS TRANSCRIPTION: DNA m RNA TRANSLATION: m RNA Protein Summary of Events in Protein Synthesis TRANSCRIPTION Transcription: A Deep look A. RNA is made from the DNA nucleotide sequence during transcription. 1. __________________attaches to the beginning of one gene or a group of genes, called the ___________, on the DNA molecule. 2. DNA separates at the______________________ 3. half the DNA serves as a template to make RNA from nucleotides a. base sequence in DNA determines the base sequence in the RNA molecule 4. transcription ends at the ________________________________ ______on the DNA molecule a. indicates the end of a ___________or a group of genes 5. m-RNA, t-RNA and r-RNA may be made Transcription http://www.biostudio.com/d_%20Transcript ion.htm http://www.stolaf.edu/people/giannini/flash animat/molgenetics/transcription.swf FIND MORE WEBSITES… TRANSLATION Translation- in ribosomes _________makes proteins with the help of _____________. The ___________on the mRNA dictate the amino acids that the tRNA brings to the ribosome. The ________________ on the tRNA hooks up with the CODON and the a.a. is brought to the appropriate location. Translation starts at the start codon (AUG) and ends at the stop codon (UGA, UAG, UAA) Chain of amino acid= protein B. B. How is the sequence of amino acids determined in translation? 1.codon (3-base sequence on m-RNA) a. 64 codons- code for amino acids 2. start codon (AUG) starts translation a. it codes for the methionine 3. codons on m-RNA pair with anticodons on t-RNA 4. stop codons (UAA, UAG, UGA) stop translation Codon Chart Start and Stop Codons on RNA Stop Codon Animation Peptide Bond Formation PROTEIN SYNTHESIS SUMMARY Transcription - DNA makes RNA Translation – t-RNA anticodons line up with m-RNA codons at the ribosome peptide bonds connect amino acids in dehydration synthesis the GENETIC CODE is the correlation between DNA base sequence and amino acid sequence in a polypeptide TRANSLATION Work on the building of Protein at the following website http://www.pbs.org/wgbh/aso/tryit/dna/ http://www.brookscole.com/chemistry_d/templates /student_resources/shared_resources/animations/ protein_synthesis/protein_synthesis.html http://www.brooklyn.cuny.edu/bc/ahp/BioInfo/SD.T ransTrans.HP.html http://learn.genetics.utah.edu/content/begin/dna/transc ribe/ http://www.biostudio.com/demo_freeman_protein_synt hesis.htm (w the ribosome subunits) http://www.brookscole.com/chemistry_d/templates/stu dent_resources/shared_resources/animations/protein_ synthesis/protein_synthesis.html http://learn.genetics.utah.edu/units/basics/transcribe/ ( actual do it yourself protein) http://www.cst.cmich.edu/users/Benja1dw/BIO101/tool s/quiz/dnarna.htm GENES ARE SEGMENTS OF DNA THAT CODE FOR A CHARACTERISTIC, LIKE DIMPLES. REALLY ITS _______________________________I N THE DNA DETERMINE THE CHARACTERISTIC. BUT SOMETIMES PROBLEMS ARISE…. Mutations A. Location of Mutations 1. _____________(body cell) 2. _________cell (cells that form sperm and egg cells) B. Causes 1. radiation a. x-rays, alpha, beta, gamma radiation, u.v. light 2. chemicals (mutagens) 3. DNA sequence changes in replication C. Effects of Mutations 1.__________(deadly) 2. may be beneficial 3. no effect Point Mutation change in one nucleotide …or change in a base (A,T,C,G) in the DNA molecule Types of mutations – a. ___________ – one base is substituted for another b. _____________– an extra base is added c. __________ or deletion of a base Point Mutation: Substitution of One Base BIGGER PROBLEMS… WHEN ONE OR TWO BASES ARE ADDED/DELETED, EVEN BIGGER PROBLEMS ARISE BECAUSE DNA IS “READ” IN________________SEQUENCES. TRANSLATION? EVERY 3 DNA BASES CODE FOR AN AMINO ACID (REMEMBER THE BUILDING BLOCK OF PROTIENS) AND YOU KNOW THAT PROTEINS ARE EVERYWHERE IN OUR BODIES! TO UNDERSTAND WHY, WE NEED TO UNDERSTAND HOW PROTEINS ARE FORMED. When things go wrong… Frameshift – results when the number of nucleotides inserted or deleted is not a multiple of three 1. addition or deletion can result in a _______________ 2. results in a completely different sequence of amino acids in the polypeptide chain Frameshift Frameshift- Insertion CELL CYCLE CONTROL BY PROTEINS What happens when the cell cycle proteins are the ones being mutated? Loss of Control of the Cell Cycle if checkpoints are not working properly, the cell cycle can cause the cell to grow uncontrollably leads to _________ http://outreach. mcb.harvard.e du/animations _S03.htm How does variation get passed on? REPRODUCTION!!!! Knowing DNA stores the message for all characteristics, how does it get passed on? ______________________ Types of reproduction – Asexual (Mitosis)- which produces identical offspring (e.g. budding, binary fission) – Sexual (Meiosis)- which produces egg and sperm. Heredity- How genetic traits are passed from one generation to another ASEXUAL REPRODUCTION (MITOSIS) IS ONLY 1 WAY ORGANISMS (SIMPLE) REPRODUCE! THERE ARE SOME ADVANTAGES (____________), BUT A HUGE DISADVANTAGE- NO ___________IN OFFSPRING!!! Sexual vs Asexual Reproduction Asexual Sexual One parent __________geneti c material Mitosis, budding, binary fission Two parents Different genetic material Meiosis + ______________ What is Meiosis Exactly? Meiosis is a form of cell division that halves the number of chromosomes when forming specialized reproductive cells such as gametes or spores 2 CELL DIVISIONS: Meiosis 1 and meiosis 2 CREATE 4__________cells (1N) only 1 copy of the chromosomes. MITOSIS VS. MEIOSIS Mitosis- process that happens during 1) growth 2) asexual reproduction 3) repair of cells 4)regeneration AFTER 4 STAGES (P-M-A-T) and 1 cell division IT PRODUCES 2 CELLS IDENTICAL (_____________) TO THE PARENT CELL- SAME DNA VS. Meiosis- process that happens to make sex cells (egg and sperm) AFTER ____ STAGES (PMAT-P2M2A2T2) and 2 cell divisions, IT PRODUCES_____CELLS WITH DIFFERENT GENETIC INFO FROM PARENT REMEMBER CHROMOSOMES THEY ARE DNA STRANDS WRAPPED AROUND HISTONE PROTEINS. IN ALL _______________THEY COME IN PAIRS (2N) CALLED THE ______________ NUMBER. ONE OF THE PAIR IS FROM MOM/DAD. – We have 46 chromosomes in body cells- 23 pairs. SINCE IN SEX CELLS THERE NEEDS TO BE ½ THE # OF CHROMOSOMES, THEY ARE NO LONGER IN PAIRS…THEY ARE ALONE. THIS IS CALLED THE _____________ (HALF) NUMBER (1N) – We have 23 chromosomes in egg/sperm. Stages of Meiosis 1 Stages of Meiosis 2 S phase of Interphase (Before Replication- Mitosis) Interphase after replication I. Meiosis (Reduction Division) A. Meiosis I 1. __________________ a. chromosomes become distinct b. nucleolus and nuclear membrane disappear and spindle fibers appear Prophase I c. spindle fibers appear d.____________–homologous chromosomes Line up together form ____________ (group of 4) Prophase I e. ____________________may occur 1) portions of chromatid from one parent break off and attach to a homologous chromatid from the other parent 2) results in ______________________________ 2. _____________________ a. chromosomes line up along the midline b. sister chromatids do not separate 3. ____________________ a. at random, one member of each homologous pair moves to the opposite poles (_______________________________ ) 4. _________________and Cytokinesis I a. chromosomes reach opposite poles b. cytokinesis begins Telophase I c. resulting cells have the n or______________number of chromosomes 1) one member of each homologous pair with two attached chromatids d. each new cell contains ½ the the number of chromosomes as the original cell B. Meiosis II 1. ___________________ a. spindle form and chromosomes begin to move toward the mid-line of the cell . ____________________ a. chromosomes move to the midline of the dividing cell 3. _____________________ a. chromatids separate and move to the opposite poles of the cell 4. ______________________ a. nuclear membrane forms around the nucleus in each cell b. each resulting cell contains the n number of chromosomes Meiosis 1 and Meiosis 2 Chart Comparing Mitosis and Meiosis Mitosis 2 cells result One division 2n number of chromosomes in resulting cells Daughter cells are identical Meiosis 4 cells result Two divisions n number of chromosomes in resulting cells Daughter cells are all different E. Formation of Gametes 1. ___________________ – results in 4 viable sperm 2. _______________ – results in 1 egg and 3 polar bodies Spermatogenesis Oogenesis Fertilization [sperm (n) + egg (n) zytote (2n) ] Sexual vs Asexual Reproduction Asexual Sexual One parent Identical genetic material Mitosis, budding, binary fission Two parents Different genetic material Meiosis + fertilization WHEN THINGS GO WRONG! _____________________ 1. Down’s Syndrome (extra 21) 2. Patau’s Syndrome (extra 13) 3. Edward’s Syndrome (extra 18) 4. Klinefelter’s Syndrome (XXY) 5. Turner’s Syndrome (XO) Nondisjunction occurs when homologous chromosomes do not segregate in meiosis I or sister chromatids do not separate in meiosis II (causes __________ and monosomy) Other Chromosome Mutations…….. 1. Deletion – piece of chromosome is deleted or _____________ – piece of a chromosome is duplicated 2. Inversion – segment of a chromosome is inverted Chromosome Mutation - Duplication Chromosome Mutations Deletion and Duplication 3. Translocation – pieces of non homologous chromosomes are exchanged How would it affect evolution if there was no genetic variation through mutation or crossing over of genes? 23 23 23 46 23 23 23 REPRODUCTION AND HEREDITY HOW GENES ARE PASSED ON!! I. Gregor Mendel (1822-1884) A. Background 1. entered monastery at 21 2. studied math and science at University of Vienna 3. 1857-1865 – investigated inheritance in pea plants Gregor Mendel The Monastery B. Peas – A Fortunate Choice (Pisum sagivum) 1. distinct characteristics (flower color, flower position, seed color, seed texture, height) 2. easy to grow 3. mature quickly 4. easy to pollinate D. Mendel’s Experiments 1. P1 Generation (Parental) a. crossed plants pure for a trait 2. F1 Generation (Offspring of P1) a. all plants show one form of the trait 3. F2 Generation (Offspring of F1) a. show forms of trait in 3:1 ratio Mendel’s P, F1and F2 Generations Examples of P1 Cross Tall X Short (both are pure) TT X tt All offspring are tall (T t) F1 Generation F1 Generation (all are ___________) Purple Flower X White Flower (both pure) PP X pp All ___________ are purple (Pp) F1 Generation F1 Generation (all are hybrids) Mendel’s F1 Cross (hybrid x hybrid) Tall X Tall (hybrid cross) Tt X Tt 3 tall plants : 1 short plant (F2 Generation) Ratio of 3:1 Purple Flowers X Purple Flowers (hybrid) Pp X Pp 3 purple flower plants : 1 white flower (F2) Ratio of _________ E. Analysis of Mendel’s Results 1. traits controlled by a pair of factors a. today factors are called alleles 2. Principle of ________________ a. one factor (gene) can prevent expression of another (dominance) 3. Law of ___________________ a. a pair of factors separate when gametes form (during meiosis) 4. Law of _______________________________ a. factors (genes) for different characteristics separate independently … (just b/c you have blonde hair doesn’t mean you’ll have blue eyes) II. Vocabulary A. Genotype 1. genetic makeup 2. examples a. TT, Tt, tt, b. __________________ B. Phenotype 1. external appearance 2. examples a. tall, short b. purple flowers, white flowers C. Homozygous (pure) 1. two alleles code for the same trait 2. examples a. TT, tt, PP, pp D. Heterozygous (hybrid) 1. two alleles do not code for the same trait 2. examples a. ________________ E. Dominant (represented by upper case letter) 1. allele that masks the recessive allele for the same characteristic F. Recessive (represented by lower case letter) 1. allele that is masked by the dominant allele for the same characteristic III. Complete Dominance (Monohybrid Cross) A. Both parents are pure 1. homozygous x homozygous 2. example T T x t t B. Both parents are hybrid 1. heterozygous X heterozygous 2. example Tt x Tt III. Complete Dominance C. Pure parent X hybrid parent 1.homozygous dominant X heterozygous a. Example T T x T t 2.homozygous recessive x heterozygous a. Example tt x Tt IV. Incomplete Dominance (both alleles influence the trait) A. Pure X Pure = all hybrids 1.example (red flower and white flower) a. RR x WW B. Hybrid X Hybrid 1. example (pink x pink flower) a. RW x RW C. Pure X hybrid 1.example (red x pink or white x pink) a. RR x RW or WW x RW Incomplete Dominance Four O’clock Flowers Pink (RW) White (WW) Red (RR) V. Codominance (both alleles are expressed) A. Pure X Pure 1. example (white horse x red horse) a. WW x RR B. Hybrid x Hybrid 1. example (roan horse x roan horse) a. RW x RW C. Pure X Hybrid 1. example(red x roan or white x roan) a. RR x RW or WW x RW VI. Dihybrid Cross (two traits considered) A. Homozygous X homozygous 1. all offspring are heterozygous for both traits (all are hybrids) B. Heterozygous X heterozygous 1. 4 phenotypes possible 2. phenotype ratio 9:3:3:1 Dihybrid Cross VII. Test Cross A. Purpose 1. to help determine the genotype of an organism B. Procedure 1. cross individual with unknown genotype with individual with homozygous recessive individual 2. example T t x tt or T T x tt VIII. Multiple Allele Problems (Blood Types) A. PHENOTYPE Type A B. GENOTYPE AA, AO ( IA IA , IA i ) Type B BB, BO ( IB IB , IB i ) Type AB AB ( IA IB ) Type O OO ( ii ) Blood Donors and Recipients World Distribution of the A Allele World Distribution of the B Allele World Distribution of Type O Blood VIII. Multiple Allele Problems Blood Types C. One parent has type AB blood and one has type O. What blood types are possible in the offspring? D. One parent has type A blood and one has type B blood, what are the possible blood IX. Polygenic inheritance of Traits A. Influenced by several genes 1. often show much variation B. Examples 1. hair color, eye color, skin color 2. height 3. foot size, nose length Frequency Distribution of a Polygenic Trait X. Sex-linked Inheritance (X linked-carried on X chromosome) A. Examples of sex-linked traits 1. color blindness 2. _____________ 3. muscular dystrophy 4. Icthyosis Individual Chromosomes Normal Male Male with Disease XY X* Y Normal Female Female Carrier Female - Disease X X X* X X* X* Problem Solving- Sex Linked Diseases A. A man is colorblind and his wife is a carrier for colorblindness. What is the probability that they will have a child who is colorblind? (A son? A daughter?) B. A man and woman are both colorblind. Can XI.Sex-influenced Inheritance (Baldness) Normal Male Bald Male bb Bb, BB Normal Female Female Carrier Bald Female bb Bb BB Sex-influenced Inheritance–Problem Solving A. If a man is bald and his wife carries a gene for baldness, what is the chance of his son being bald? (His daughter?) B. If a man is not bald but his wife carries a gene for baldness, can his son be bald? (His daughter?) Pedigree-a genetic family tree http://genetics.gsk.com/graphics/autosomal_recessive.gif h tt : Pedigree chart tells us two things – 1. WHETHER IT IS AN AUTOSOMAL(22 BODY PAIRS) OR SEX-LINKED (1PAIR OF SEX TRAITS XX OR XY) If male and female is close to equal it is autosomal – 2. WHETHER IT IS DOM. OR RECESS. TRAIT- IF THE TRAIT IS PASSED TO NEXT GENERATION – BUT SKIPPED A GENERATION IT IS RECESSIVEIF THE PARENTS WERE NORMAL AND HAD A CHILD WITH THE TRAIT IT IS RECESSIVE Autosomal pedigree chart Sex-linked pedigree XII. Genetic Diseases - Examples XII. GENETIC DISEASES A. Dominant Single Allele 1. 2. 3. 4. Huntingtons Dwarfism Cataracts Polydactyl GENETIC DISEASES B. Recessive Single Allele 1. Albinism 2. PKU (phenylketonuria) 3. Deafness 4. Sickle Cell Anemia 5. Cystic Fibrosis 6. Tay Sachs GENETICS DISEASES C. X-Linked 1. Colorblindness 2. Hemophilia 3. Muscular Dystrophy 4. Icthyosis Genetic Diseases – Linked Genes Linked Genes and Genetic Diseases Inheritance of Recessive Genetic Diseases Inheritance of Genetic Diseases Normal Red Blood Cells and Sickle Cells D. Sex-Linked Genetic Diseases X-Linked (Diseases on X chromosome) Hemophilia Inheritance Sex-Linked Genetic Disease SO WHERE THE VARIATION EVOLUTION ACTS UPON COME FROM??? Variation in Populations C. Genetic Sources of Variation 1. Mutations a) a specific gene mutates in 1/10,0000 gametes b) thousands of genes in each gamete c) some mutations in every zygote d) most mutations are recessive IV. Variation in Populations C. Genetic Sources of Variation 2. Genetic Recombination a) random meeting of sperm and egg b) crossing over c) independent assortment What can decrease variation in a population? 1. Genetic Drift a) occurs in small populations b) elimination of some genes by chance c) may decrease variation IV. Variation in Populations C. Genetic Sources of Variation 2. Non-random Mating 3. Fecundity selection/ Mortality selection Some organisms with certain traits reproduce more or survive better to reproductive age than others. What can increase variation in a population? 1. Migration (Gene Flow)- mating with members of different populations). a) immigration- movement into an area or population b) emigration – movement out of an area or population 2. Random mating H-W Equilibrium The Hardy-Weinberg law of genetic equilibrium provides a mathematical model for studying evolutionary changes in allelic frequency within a population. A population in Hardy-Weinberg equilibrium shows no change. ANIMATION http://zoology.okstate.edu/zoo_lrc/biol1114/tutorials/Flash/life4e_15-6-OSU.swf IV. Variation in Populations D. Genetic Equilibrium 1. Hardy-Weinberg Principle a) allele frequencies are stable across generations b) sexual reproduction alone does not affect genetic equilibrium 2. Conditions Necessary a) no immigration c) no natural selection e) random mating b) no mutations d) large populations f) everyone produces the same number of offspring CONCEPTS OF H-W EQUILBRIUM http://www.phschool.com/science/biology_place/labbench/lab8/conce pts.html IV. Variation in Populations E. Mathematics/Hardy Weinberg 1. gene pool - all the genes in a population 2. allele frequency - % occurrence of a specific allele in a population 3. phenotype frequency - % occurrence of an individual in a population with a trait 4. genotype frequency - % occurrence of individuals in a population with a specific genotype IV. Variation in Populations E. Mathematics/Hardy Weinberg 5. applying mathematics a) p = frequency of the dominant allele q = frequency of the recessive allele b) p + q = 1 c) p2 + 2pq + q2 = 1 IV. Variation in Populations E. Mathematics/Hardy Weinberg d) q2 = recessive phenotype/genotype frequency p2 +2pq = dominant phenotype frequency p2 = pure dominant genotype frequency 2pq= heterozygous genotype frequency Problems: In a population of 100 cats, 84 are black and 16 are white. What is the phenotype frequency for white cats? Black cats? What is the recessive allele frequency? What is the dominant frequency? HW problem Given an allele frequency for the tall allele (T=.60), calculate the phenotype frequencies for tall and short plants. Short phenotype frequency? Tall phenotype frequency? More problems… If 4.0% of seeds are yellow and 96% are green (Green is dominant). Calculate the allele frequencies for the yellow allele and the allele for green. Yellow allele frequency? Green allele frequency? Even more problems…. 25% of an animal population has blue eyes (recessive) and 75% have brown eyes. What is the allele frequency for the blue (b) allele and for the brown (B) allele? Recessive allele frequency? Dominant allele frequency? Evolution Revisited… 1. Evolution may be defined as a) change in genetic material in a population b) change in allele frequency in a population c) change in genotype/phenotype ratio d) speciation SUMMARY THE ENVIRONMENT DRIVES EVOLUTION TO FAVOR CERTAIN VARIATIONS OF ORGANISMS (no one best way to be all the time). THESE VARIATIONS ARISE FROM MUTATIONS AND MEIOSIS AND GET PASSED ON THROUGH REPRODUCTION AND HEREDITY.