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LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson Chapter 14 Mendel and the Gene Idea Lectures by Erin Barley Kathleen Fitzpatrick © 2011 Pearson Education, Inc. Genetics is Like Drawing from the Deck of Genes. The BLENDING hypothesis: • idea that genetic material from the two parents blends together (like blue and yellow paint blend to make green) © 2011 Pearson Education, Inc. The “Particulate” hypothesis • the idea that parents pass on discrete heritable units (genes) • can explain the reappearance of traits after several generations • Mendel!!! http://www.youtube.com/watch?v=YxKFdQo10r E © 2011 Pearson Education, Inc. Figure 14.1 Mendel used the scientific approach to identify two laws of inheritance • Used garden peas © 2011 Pearson Education, Inc. Why peas?? The advantages… • many varieties with distinct heritable features • Mating can be controlled – Each flower produces sperm and egg – Can be Cross-pollinated (by dusting) © 2011 Pearson Education, Inc. Technique: Figure 14.2a TECHNIQUE 1 2 Parental generation (P) Stamens 3 Carpel 4 Figure 14.2b RESULTS First filial generation offspring (F1) 5 • Mendel also used true-breeding plants – plants that produce offspring of the same variety when they self-pollinate © 2011 Pearson Education, Inc. Figure 14.3-1 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers Figure 14.3-2 EXPERIMENT P Generation (true-breeding parents) F1 Generation (hybrids) Purple flowers White flowers All plants had purple flowers Self- or cross-pollination Figure 14.3-3 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers F1 Generation (hybrids) All plants had purple flowers Self- or cross-pollination F2 Generation 705 purpleflowered plants 224 white flowered plants Which color was dominant and which recessive? • The factor for white flowers didn’t disappear, because it reappeared in the F2 generation • “heritable factor” = what we now call a gene © 2011 Pearson Education, Inc. Table 14.1 Mendel’s Model • Mendel noticed a 3:1 (ratio) inheritance pattern in his breeding experiments in F2 offspring (F2 = 2nd generation) • He developed a hypothesis to explain it 4 concepts make up this model © 2011 Pearson Education, Inc. 1. Different versions of genes exist • alternative versions of a gene = alleles • they each have a locus (specific location on a chromosome) © 2011 Pearson Education, Inc. Figure 14.4 Allele for purple flowers Locus for flower-color gene Pair of homologous chromosomes Allele for white flowers 2. Organisms inherit two alleles for each character • one from each parent • 2 alleles may be identical or may be different © 2011 Pearson Education, Inc. 3. Dominance exists • if the two alleles at a locus differ… – dominant allele - determines the organism’s appearance – recessive allele - has no noticeable effect on appearance © 2011 Pearson Education, Inc. 4. Law of Segregation (one of Mendel’s Laws) • the two alleles for a heritable character separate (segregate) during gamete formation – end up in different gametes – egg or a sperm gets only one of the two alleles that are present in the organism • meiosis!! © 2011 Pearson Education, Inc. Punnett Squares - used to predict results of genetic crosses between individuals known genetic makeup • capital letter = dominant allele • lowercase letter = recessive allele © 2011 Pearson Education, Inc. Figure 14.5-1 P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P Figure 14.5-2 P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P F1 Generation Appearance: Genetic makeup: Gametes: Purple flowers Pp 1/ 1/ 2 p 2 P Figure 14.5-3 P Generation Appearance: Purple flowers White flowers Genetic makeup: pp PP p Gametes: P F1 Generation Appearance: Genetic makeup: Gametes: Purple flowers Pp 1/ 1/ 2 p 2 P Sperm from F1 (Pp) plant F2 Generation P Eggs from F1 (Pp) plant p 3 P p PP Pp Pp pp :1 Useful Genetic Vocabulary • homozygous = two identical alleles for a gene (bb or BB) • heterozygous = two different alleles for a gene (Bb) • heterozygotes are not true-breeding • Homozygotes are true-breeding © 2011 Pearson Education, Inc. Sometimes, traits don’t reveal genetics • Phenotype = physical appearance • Genotype = genetic makeup • For example, in pea plants, – PP and Pp plants have the same phenotype (purple) but different genotypes © 2011 Pearson Education, Inc. Figure 14.6 3 Phenotype Genotype Purple PP (homozygous) Purple Pp (heterozygous) 1 2 1 Purple Pp (heterozygous) White pp (homozygous) Ratio 3:1 Ratio 1:2:1 1 The Testcross = what we do to try and determine the genotype of a mystery individual • How is a test cross performed? – breed the mystery individual with a homozygous recessive individual – If any offspring display the recessive phenotype, the mystery parent must be heterozygous © 2011 Pearson Education, Inc. Figure 14.7 TECHNIQUE Dominant phenotype, unknown genotype: PP or Pp? Predictions If purple-flowered parent is PP Sperm p p Recessive phenotype, known genotype: pp or If purple-flowered parent is Pp Sperm p p P Pp Eggs P Pp Eggs P p Pp Pp Pp Pp pp pp RESULTS or All offspring purple 1/ 2 offspring purple and 1/ offspring white 2 Law of Independent Assortment: (another one of Mendel’s Laws) • each pair of alleles segregates independently of each other pair of alleles during gamete formation © 2011 Pearson Education, Inc. • Mendel identified his second law of inheritance by following two characters at the same time © 2011 Pearson Education, Inc. • Mendel produced dihybrids (BbFf) by crossing two true-breeding parents differing in two characters (bbff x BBFF) He then performed a dihybrid cross between these individuals. © 2011 Pearson Education, Inc. What can a dihybrid cross show us about the genetics of the individuals? • can determine whether two characters are transmitted to offspring as a package or independently Figure 14.8 EXPERIMENT YYRR P Generation yyrr yr Gametes YR F1 Generation Predictions YyRr Hypothesis of dependent assortment Hypothesis of independent assortment Sperm or Predicted offspring of F2 generation 1/ Sperm 1/ 2 YR 1/ 2 2 YR YyRr YYRR Eggs 1/ 2 1/ 4 YR 4 Yr 4 yR 4 yr Eggs yr YyRr 3/ yyrr 1/ 4 YR 1/ 4 1/ Yr 4 yR 1/ 4 yr yr 1/ 1/ 4 1/ YYRR YYRr YyRR YyRr YYRr YYrr YyRr Yyrr YyRR YyRr yyRR yyRr YyRr Yyrr yyRr yyrr 4 Phenotypic ratio 3:1 1/ 9/ 16 3/ 16 3/ 16 1/ 16 Phenotypic ratio 9:3:3:1 RESULTS 315 108 101 32 Phenotypic ratio approximately 9:3:3:1 The Phenotypic Ratios he found when he performed monohybrid and dihybrid crosses: • Monohybrid cross (Rr x Rr) –3:1 • Dihybrid Cross (YyRr x YyRr) –9:3:3:1 These become expected ratios for hybrid crosses Probability is KING when it comes to Mendel’s genetics. • Mendel’s laws reflect the rules of probability • When tossing a coin, the outcome of one toss has no impact on the outcome of the next toss – Just like how the alleles of one gene segregate into gametes independently of another gene’s alleles © 2011 Pearson Education, Inc. The Multiplication and Addition Rules and Monohybrid Crosses • multiplication rule - probability that two or more independent events will occur together is the product of their individual probabilities • addition rule - probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities © 2011 Pearson Education, Inc. Figure 14.9 Rr Segregation of alleles into eggs Rr Segregation of alleles into sperm Sperm 1/ R 2 2 Eggs 4 r 2 r R R 1/ 1/ r 2 R R 1/ 1/ 1/ 4 r r R r 1/ 4 1/ 4 Solving Complex Genetics Problems with the Rules of Probability • each character is considered separately, and then the individual probabilities are multiplied © 2011 Pearson Education, Inc. Figure 14.UN01 Probability of YYRR 1/4 (probability of YY) 1/4 (RR) 1/16 Probability of YyRR 1/2 (Yy) 1/4 (RR) 1/8 Figure 14.UN02 ppyyRr ppYyrr Ppyyrr PPyyrr ppyyrr 1/ (yy) 1/ (Rr) (probability of pp) 4 2 2 1/ 1/ 1/ 4 2 2 1/ 1/ 1/ 2 2 2 1/ 1/ 1/ 4 2 2 1/ 1/ 1/ 4 2 2 1/ Chance of at least two recessive traits 1/16 1/16 2/16 1/16 1/16 6/16 or 3/8 Inheritance patterns are often more complex than predicted by simple Mendelian genetics • basic principles of segregation and independent assortment still apply © 2011 Pearson Education, Inc. Inheritance of characters by a single gene may deviate when… – alleles are not completely dominant or recessive – a gene has more than two alleles – a gene produces multiple phenotypes © 2011 Pearson Education, Inc. Complete Dominance • phenotypes of the heterozygote and dominant homozygote are identical © 2011 Pearson Education, Inc. Incomplete Dominance • phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties • (think “pink”omplete) Figure 14.10-1 P Generation White CWCW Red CRCR Gametes CR CW Figure 14.10-2 P Generation White CWCW Red CRCR Gametes CR CW F1 Generation Gametes 1/2 CR Pink CRCW 1/ 2 CW Figure 14.10-3 P Generation White CWCW Red CRCR CR Gametes CW F1 Generation Pink CRCW 1/ Gametes 1/2 CR 2 CW Sperm 1/ F2 Generation 1/ 2 CR 1/ 2 CW Eggs 2 CR 1/ 2 CW CRCR CRCW CRCW CWCW • Pooh had a colony of tiggers whose stripes went across the body. His American pen-pal, Yogi, sent him a Tigger whose stripes ran lengthwise. • When Pooh crossed it with one of his own animals, he obtained plaid tiggers. • Interbreeding among the plaid Tiggers produced litters of a majority of plaid members, but some crosswise- and lengthwise-striped animals were also produced. • Diagram the crosses made Pooh, showing the genotypes of the Tiggers which account for the coat patterns observed. Codominance • two dominant alleles affect the phenotype in separate, distinguishable ways Multiple Alleles • Most genes exist in populations in more than two allelic forms • For example, the ABO blood group in humans – determined by three alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i. • IA allele adds the A carbohydrate • IB allele adds the B carbohydrate • i allele adds neither © 2011 Pearson Education, Inc. Figure 14.11 (a) The three alleles for the ABO blood groups and their carbohydrates IA Allele Carbohydrate IB i none B A (b) Blood group genotypes and phenotypes Genotype IAIA or IAi IBIB or IBi IAIB ii A B AB O Red blood cell appearance Phenotype (blood group) Blood type problem Determine the genotypes of the lettered individuals Sex-linked gene • gene located on either sex chromosome • Most are X-linked • Follow a different inheritance pattern © 2011 Pearson Education, Inc. Figure 15.5 X Y Figure 15.6 44 XY Different organisms sex determination 44 XX Parents 22 22 X or Y 22 X Sperm Egg 44 XX or 44 XY (a) The X-Y system Zygotes (offspring) 22 XX 22 X 76 ZW 76 ZZ 32 (Diploid) 16 (Haploid) (b) The X-0 system (c) The Z-W system (d) The haplo-diploid system • For a recessive X-linked trait to be expressed – A female needs two copies of the allele (homozygous) – A male needs only one copy of the allele (hemizygous) • X-linked recessive disorders are much more common in males than in females © 2011 Pearson Education, Inc. Figure 15.7 XNXN Sperm Xn XNXn XnY Sperm XN Y XNY XNXn Sperm Xn Y XnY Y Eggs XN XNXn XNY Eggs XN XNXN XNY Eggs XN XNXn XNY XN XNXn XNY Xn XNXn XnY Xn XnXn XnY (a) (b) (c) X-linked human disorder – Color blindness (mostly X-linked) – Duchenne muscular dystrophy – Hemophilia © 2011 Pearson Education, Inc. Hemophilia is a recessive sex-linked trait. Specifically, the allele that codes for this disease is found on the X chromosome (Xh). Individuals with this disorder are unable to form blood clots properly and often run the risk of bleeding to death from injuries that might normally be considered minor. A couple would like to know if the child they are expecting could be born with hemophilia. The mother’s genotype is XHXh. The father’s genotype is XhY and he has hemophilia. • a) What are the possible genotypes for the couple’s children? • b) What is the % chance that their child will have hemophilia if it is a girl? • c) What is the % chance that their child will have hemophilia if it is a boy? X Inactivation in Female Mammals • one of the two X chromosomes in each cell is randomly inactivated during embryonic development – inactive X condenses into a Barr body • If a female is heterozygous for a particular gene located on the X chromosome, she will be a mosaic for that character © 2011 Pearson Education, Inc. Figure 15.8 X chromosomes Allele for orange fur Early embryo: Two cell populations in adult cat: Allele for black fur Cell division and X chromosome inactivation Active X Inactive X Active X Black fur Orange fur Pleiotropy • multiple phenotypic effects = pleiotropy • pleiotropic alleles – responsible for the multiple symptoms of certain hereditary diseases, such as cystic fibrosis and sickle-cell disease © 2011 Pearson Education, Inc. Epistasis • In epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus – Coat color in Labrador retrievers • (One gene determines the pigment color (with alleles B for black and b for brown) • (The other gene (with alleles C for color and c for no color) determines whether the pigment will be deposited in the hair) © 2011 Pearson Education, Inc. Epistasis problem In guinea pigs, the gene for production of melanin is epistatic to the gene for the deposition of melanin. • The dominant allele E causes melanin to be produced; mm individual cannot produce the pigment. • The dominant allele B causes the deposition of a lot of pigment and produces a black guinea pig, whereas only a small amount of pigment is laid down in bb animals, producing a light-brown color. • Without an E allele, no pigment is produced, so the allele B has no effect, and the guinea pig is white. • A homozygous black pig is crossed with a homozygous recessive white : EEBB x eebb. Give the geno- and phenotypes for the F1 and F2 generations. Figure 14.12 BbEe Eggs 1/ 4 BE 1/ 4 bE 1/ 4 Be 1/ 4 be Sperm 1/ BE 4 1/ BbEe 4 bE 1/ 4 Be 1/ 4 be BBEE BbEE BBEe BbEe BbEE bbEE BbEe bbEe BBEe BbEe BBee Bbee BbEe bbEe Bbee bbee 9 : 3 : 4 Polygenic Inheritance • an additive effect of two or more genes on a single phenotype • Skin color in humans © 2011 Pearson Education, Inc. Figure 14.13 AaBbCc AaBbCc Sperm 1/ 1/ 8 8 1/ 1/ Eggs 8 1/ 1/ 8 8 1/ 8 1/ 1/ 8 8 8 8 1/ 8 1/ 8 1/ 1/ 8 1/ 8 1/ 8 1/ 8 Phenotypes: Number of dark-skin alleles: 1/ 64 0 6/ 64 1 15/ 64 2 20/ 64 3 15/ 64 4 6/ 64 5 1/ 64 6 Linked genes • tend to be inherited together • are located near each other on the same chromosome • certain traits do not assort independently – (b/c they’re on the same chromosome!) © 2011 Pearson Education, Inc. Figure 15.9-1 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg Figure 15.9-2 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg F1 dihybrid (wild type) b b vg vg TESTCROSS Double mutant b b vg vg Figure 15.9-3 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg F1 dihybrid (wild type) Double mutant TESTCROSS b b vg vg b b vg vg Testcross offspring Eggs b vg b vg Wild type Black(gray-normal) vestigial b vg Grayvestigial b vg Blacknormal b vg Sperm b b vg vg b b vg vg b b vg vg b b vg vg Figure 15.9-4 EXPERIMENT P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) b b vg vg b b vg vg F1 dihybrid (wild type) Double mutant TESTCROSS b b vg vg b b vg vg Testcross offspring Eggs b vg b vg b vg Wild type Black(gray-normal) vestigial b vg Blacknormal Grayvestigial b vg Sperm b b vg vg b b vg vg b b vg vg b b vg vg PREDICTED RATIOS If genes are located on different chromosomes: 1 : 1 : 1 : 1 If genes are located on the same chromosome and parental alleles are always inherited together: 1 : 1 : 0 : 0 965 : 944 : 206 : 185 RESULTS Figure 15.UN01 F1 dihybrid female and homozygous recessive male in testcross b+ vg+ b vg b vg b vg b+ vg+ b vg Most offspring or b vg b vg • However, nonparental phenotypes were also produced… • What happened!?! I thought the genes were linked!?! © 2011 Pearson Education, Inc. Genetic Recombination: (happened). The production of offspring with combinations of traits differing from either parent • Offspring with nonparental phenotypes are called recombinant types, or recombinants Recombination of Unlinked Genes: Independent Assortment of Chromosomes • If frequency is < 50% the genes are linked. © 2011 Pearson Education, Inc. Figure 15.UN02 Gametes from yellow-round dihybrid parent (YyRr) Gametes from greenwrinkled homozygous recessive parent (yyrr) YR yr Yr yR YyRr yyrr Yyrr yyRr yr Parentaltype offspring Recombinant offspring What do you think the mechanisms behind this recombinance is? Recombination of Linked Genes • That mechanism was the crossing over of homologous chromosomes © 2011 Pearson Education, Inc. Animation: Crossing Over Right-click slide / select”Play” © 2011 Pearson Education, Inc. Nature and Nurture: • phenotypes are influenced by the environment – norm of reaction is the phenotypic range of a genotype influenced by the environment • hydrangea flowers of the same genotype range from blue-violet to pink, depending on soil acidity © 2011 Pearson Education, Inc. Figure 14.14 Figure 14.14a Figure 14.14b • An organism’s phenotype reflects its overall genotype and unique environmental history © 2011 Pearson Education, Inc. • Humans are not good subjects for genetic research • But lots of our traits follow Mendelain patterns of inheritance © 2011 Pearson Education, Inc. Pedigree Analysis • A pedigree is a family tree • Used to make predictions about offspring © 2011 Pearson Education, Inc. Figure 14.15 Key Male 1st generation Affected male Female Affected female Mating 1st generation Ww ww Ww ww 2nd generation Ww ww 3rd generation WW or Ww Widow’s peak ff ff (a) Is a widow’s peak a dominant or recessive trait? Ff Ff Ff ff ff FF or Ff 3rd generation ww No widow’s peak ff Ff 2nd generation FF or Ff Ww ww ww Ww Ff Offspring Attached earlobe Free earlobe b) Is an attached earlobe a dominant or recessive trait? Figure 14.15a Widow’s peak Figure 14.15b No widow’s peak Figure 14.15c Attached earlobe Figure 14.15d Free earlobe © 2011 Pearson Education, Inc. Recessively Inherited Disorders • Many genetic disorders are inherited in a recessive manner • Show up only in homozygous individuals • Carriers – heterozygous for condition (normal phenotype) • Albinism © 2011 Pearson Education, Inc. Figure 14.16 Parents Normal Aa Normal Aa Sperm A a A AA Normal Aa Normal (carrier) a Aa Normal (carrier) aa Albino Eggs • Consanguineous matings (i.e., matings between close relatives/inbreeding) increase the chance of mating between two carriers of the same rare allele © 2011 Pearson Education, Inc. Fetal Testing • In amniocentesis, • In chorionic villus sampling (CVS), a sample of the placenta is removed and tested • ultrasound and fetoscopy, © 2011 Pearson Education, Inc. Figure 14.19 (a) Amniocentesis 1 (b) Chorionic villus sampling (CVS) Ultrasound monitor Amniotic fluid withdrawn Ultrasound monitor Fetus 1 Placenta Chorionic villi Fetus Placenta Uterus Cervix Cervix Uterus Suction tube inserted through cervix Centrifugation Fluid Fetal cells Several hours 2 Several weeks Biochemical and genetic tests Several hours Fetal cells 2 Several hours Several weeks 3 Karyotyping Figure 15.10 Black body, vestigial wings (double mutant) Gray body, normal wings (F1 dihybrid) Testcross parents b vg b vg b vg b vg Replication of chromosomes Meiosis I Replication of chromosomes b vg b vg b vg b vg b vg b vg b vg b vg b vg Meiosis I and II b vg b vg b vg Meiosis II Recombinant chromosomes bvg b vg b vg b vg 944 Blackvestigial 206 Grayvestigial 185 Blacknormal Eggs Testcross offspring 965 Wild type (gray-normal) b vg b vg b vg b vg b vg b vg b vg b vg Parental-type offspring Recombinant offspring 391 recombinants Recombination 100 17% frequency 2,300 total offspring b vg Sperm Figure 15.10a Gray body, normal wings (F1 dihybrid) Testcross parents Black body, vestigial wings (double mutant) b vg b vg b vg b vg Replication of chromosomes Replication of chromosomes Meiosis I b vg b vg b vg b vg b vg b vg b vg b vg b vg Meiosis I and II b vg b vg b vg Meiosis II bvg Eggs Recombinant chromosomes b vg b vg b vg b vg Sperm Figure 15.10b Recombinant chromosomes Eggs Testcross offspring bvg 965 Wild type (gray-normal) b vg b vg b vg 944 Blackvestigial 206 Grayvestigial 185 Blacknormal b vg b vg b vg b vg b vg b vg b vg b vg Parental-type offspring Recombinant offspring Recombination 391 recombinants 100 17% frequency 2,300 total offspring b vg Sperm