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BIOLOGY CONCEPTS & CONNECTIONS Fourth Edition Neil A. Campbell • Jane B. Reece • Lawrence G. Mitchell • Martha R. Taylor CHAPTER 9 Patterns of Inheritance Modules 9.1 – 9.10 From PowerPoint® Lectures for Biology: Concepts & Connections Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings MENDEL’S PRINCIPLES 9.1 The science of genetics has ancient roots • Science of heredity dates back to ancient attempts at selective breeding • Until the 20th century, however, many biologists erroneously believed that – characteristics acquired during lifetime could be passed on – characteristics of both parents blended irreversibly in their offspring Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.2 Experimental genetics began in an abbey garden • Modern genetics began with Gregor Mendel’s quantitative experiments with pea plants Stamen Carpel Figure 9.2A, B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Mendel self and cross fertilized plants White 1 Removed stamens from purple flower Stamens Carpel PARENTS (P) 2 Transferred Purple pollen from stamens of white flower to carpel of purple flower 3 Pollinated carpel matured into pod • This illustration shows his technique for cross-fertilization 4 OFFSPRING (F1) Figure 9.2C Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Planted seeds from pod • Mendel studied 7 pea characteristics FLOWER COLOR Purple White Axial Terminal SEED COLOR Yellow Green SEED SHAPE Round Wrinkled POD SHAPE Inflated Constricted POD COLOR Green Yellow STEM LENGTH Tall Dwarf FLOWER POSITION • Hypothesized alleles Figure 9.2D Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.3 Mendel’s principle of segregation describes the inheritance of a single characteristic • From his experimental data, Mendel deduced that an organism has 2(alleles) for each inherited characteristic P GENERATION (true-breeding parents) Purple flowers White flowers All plants have purple flowers F1 generation Fertilization among F1 plants (F1 x F1) – 1 characteristic from each parent F2 generation Figure 9.3A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 3/ of plants have purple flowers 4 1/ 4 of plants have white flowers • A sperm or egg carries only 1 allele of each pair – The pairs of alleles separate when gametes form GENETIC MAKEUP (ALLELES) P PLANTS Gametes PP pp All P All p F1 PLANTS (hybrids) Gametes – This process describes Mendel’s law of segregation All Pp 1/ 2 1/ P P 2 p P Eggs Sperm PP F2 PLANTS – Alleles can be dominant or recessive Phenotypic ratio 3 purple : 1 white p p Pp Pp pp Genotypic ratio 1 PP : 2 Pp : 1 pp Figure 9.3B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.4 Homologous chromosomes bear the two alleles for each characteristic • Alternative forms of a gene (alleles) reside at the same locus on homologous chromosomes GENE LOCI P P a a B DOMINANT allele b RECESSIVE allele GENOTYPE: PP aa HOMOZYGOUS for the dominant allele HOMOZYGOUS for the recessive allele Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Bb HETEROZYGOUS Figure 9.4 • Independent assortment of two genes in the Labrador retriever Blind PHENOTYPES GENOTYPES Black coat, normal vision B_N_ Black coat, blind (PRA) B_nn MATING OF HETEROZYOTES (black, normal vision) PHENOTYPIC RATIO OF OFFSPRING 9 black coat, normal vision BbNn 3 black coat, blind (PRA) Figure 9.5B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Blind Chocolate coat, normal vision bbN_ Chocolate coat, blind (PRA) bbnn BbNn 3 chocolate coat, normal vision 1 chocolate coat, blind (PRA) 9.6 Geneticists use the testcross to determine unknown genotypes • The offspring of a testcross often reveal the genotype of an individual when it is unknown TESTCROSS: GENOTYPES B_ bb Two possibilities for the black dog: BB b OFFSPRING Bb B GAMETES Figure 9.6 or Bb All black Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings B b Bb b bb 1 black : 1 chocolate 9.8 Connection: Genetic traits in humans can be tracked through family pedigrees • The inheritance of many human traits follows Mendel’s principles and the rules of probability Figure 9.8A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Family pedigrees are used to determine patterns of inheritance and individual genotypes Dd Joshua Lambert Dd Abigail Linnell D_? Abigail Lambert D_? John Eddy dd Jonathan Lambert Dd Dd dd D_? Hepzibah Daggett Dd Elizabeth Eddy Dd Dd Dd dd Female Male Deaf Figure 9.8B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Hearing 9.9 Connection: Many inherited disorders in humans are controlled by a single gene • Most such disorders are caused by autosomal recessive alleles – Examples: cystic fibrosis, sickle-cell disease Normal Dd PARENTS Normal Dd D D Eggs Sperm DD Normal d OFFSPRING d Dd Normal (carrier) Dd Normal (carrier) dd Deaf Figure 9.9A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.12 Incomplete dominance results in intermediate phenotypes • Incomplete dominance: phenotype blend because alleles “blend”, but not irreversible P GENERATION White rr Red RR Gametes R r Pink Rr F1 GENERATION 1/ 1/ Eggs 1/ F2 GENERATION 2 2 2 R 1/ 2 r 1/ R Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings R Red RR r Pink Rr Sperm 1/ Pink rR White rr Figure 9.12A 2 2 r • Incomplete dominance in human hypercholesterolemia GENOTYPES: HH Homozygous for ability to make LDL receptors Hh Heterozygous hh Homozygous for inability to make LDL receptors PHENOTYPES: LDL LDL receptor Cell Normal Mild disease Figure 9.12B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Severe disease 9.13 Multiple Alleles • Blood type example of multiple alleles – The three alleles for ABO blood type in humans is an example: - IA, IB, i Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings – Alleles A and B CODOMINANT – both are expressed in the phenotype Blood Group (Phenotype) Genotypes Antibodies Present in Blood Reaction When Blood from Groups Below Is Mixed with Antibodies from Groups at Left O O ii Anti-A Anti-B A IA IA or IA i Anti-B B IB IB or IB i Anti-A AB IA IB Figure 9.13 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings A B AB THE CHROMOSOMAL BASIS OF INHERITANCE 9.17 Chromosome behavior accounts for Mendel’s principles • Genes are located on chromosomes – Their behavior during meiosis accounts for inheritance patterns Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • The chromosomal basis of Mendel’s principles Figure 9.17 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.18 Genes on the same chromosome tend to be inherited together • Certain genes are linked – Tend to be passed down together because close together on same chromosome Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Figure 9.18 Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings A B a b a B A B a b Tetrad A b Crossing over Gametes Figure 9.19A, B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Figure 9.19C Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.20 Geneticists use crossover data to map genes • Crossing over is more likely to occur between genes that are farther apart – Recombination frequencies can be used to map the relative positions of genes on chromosomes Chromosome g c l 17% 9% Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.5% Figure 9.20B SEX CHROMOSOMES AND SEX-LINKED GENES 9.21 Chromosomes determine sex in many species • A human male has one X chromosome and one Y chromosome • A human female has two X chromosomes • Whether a sperm cell has an X or Y chromosome determines the sex of the offspring Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings (male) (female) Parents’ diploid cells X Y Male Sperm Egg Offspring (diploid) Figure 9.21A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • Other systems of sex determination exist in other animals and plants – The X-O system – The Z-W system – Chromosome number Figure 9.21B-D Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings 9.22 Sex-linked genes exhibit a unique pattern of inheritance • Sex-linked genes: genes on the sex chromosomes – In many organisms, the X chromosome carries many genes unrelated to sex – Fruit fly eye color is a sex-linked characteristic Figure 9.22A Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings – Their inheritance pattern reflects the fact that males have one X chromosome and females have two – These figures illustrate inheritance patterns for white eye color (r) in the fruit fly, an X-linked recessive trait Female XRXR Male Xr Y XR Female XRXr Xr XRXr Male XRY XRY Xr XRXR XrXR XRY XrY R = red-eye allele r = white-eye allele Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings Male XRXr XR XR Y Female XrY Xr XR Y Xr XRXr Xr Xr Y XRY XrY Figure 9.22B-D 9.23 Connection: Sex-linked disorders affect mostly males • Most sex-linked human disorders are due to recessive alleles – Examples: hemophilia, red-green color blindness – These are mostly seen in males Figure 9.23A – A male receives a single X-linked allele from his mother, and will have the disorder, while a female has to receive the allele from both parents to be affected Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings • A high incidence of hemophilia has plagued the royal families of Europe Queen Victoria Albert Alice Louis Alexandra Czar Nicholas II of Russia Alexis Figure 9.23B Copyright © 2003 Pearson Education, Inc. publishing as Benjamin Cummings