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Chapter 9 Patterns of Inheritance PowerPoint® Lectures for Campbell Essential Biology, Fifth Edition, and Campbell Essential Biology with Physiology, Fourth Edition – Eric J. Simon, Jean L. Dickey, and Jane B. Reece Lectures by Edward J. Zalisko © 2013 Pearson Education, Inc. Biology and Society: Our Longest-Running Genetic Experiment: Dogs • People have selected and mated dogs with preferred traits for more than 15,000 years. • Over thousands of years, such genetic tinkering has led to the incredible variety of body types and behaviors in dogs today. • The biological principles underlying genetics have only recently been understood. © 2013 Pearson Education, Inc. Figure 9.0 HERITABLE VARIATION AND PATTERNS OF INHERITANCE • Heredity is the transmission of traits from one generation to the next. • Genetics is the scientific study of heredity. • Gregor Mendel – worked in the 1860s, – was the first person to analyze patterns of inheritance, and – deduced the fundamental principles of genetics. © 2013 Pearson Education, Inc. Figure 9.1 In an Abbey Garden • Mendel studied garden peas because they – were easy to grow, – came in many readily distinguishable varieties, – are easily manipulated, and – can self-fertilize. © 2013 Pearson Education, Inc. Figure 9.2 Petal Stamen (makes spermproducing pollen) Carpel (produces eggs) Figure 9.3-1 1 Removed stamens from purple flower. Stamens Parents (P) Carpel 2 Transferred pollen from stamens of white flower to carpel of purple flower. Figure 9.3-2 1 Removed stamens from purple flower. Stamens Parents (P) Carpel 2 Transferred pollen from stamens of white flower to carpel of purple flower. 3 Pollinated carpel matured into pod. Figure 9.3-3 1 Removed stamens from purple flower. Stamens Parents (P) Carpel 2 Transferred pollen from stamens of white flower to carpel of purple flower. 3 Pollinated carpel matured into pod. 4 Planted seeds from pod. Offspring (F1) In an Abbey Garden • A character is a heritable feature that varies among individuals. • A trait is a variant of a character. • Each of the characters Mendel studied occurred in two distinct traits. © 2013 Pearson Education, Inc. In an Abbey Garden • Mendel – created purebred varieties of plants and – crossed two different purebred varieties. © 2013 Pearson Education, Inc. In an Abbey Garden • Hybrids are the offspring of two different purebred varieties. – The parental plants are the P generation. – Their hybrid offspring are the F1 generation. – A cross of the F1 plants forms the F2 generation. © 2013 Pearson Education, Inc. Mendel’s Law of Segregation • Mendel performed many experiments. • He tracked the inheritance of characters that occur as two alternative traits. © 2013 Pearson Education, Inc. Figure 9.4 Dominant Dominant Recessive Pod shape Flower color Inflated Purple White Flower position Seed color Seed shape Recessive Axial Terminal Yellow Green Round Wrinkled Constricted Pod color Green Yellow Tall Dwarf Stem length Figure 9.4a Monohybrid Crosses • A monohybrid cross is a cross between purebred parent plants that differ in only one character. © 2013 Pearson Education, Inc. Figure 9.5-1 P Generation (purebred parents) Purple flowers White flowers Figure 9.5-2 P Generation (purebred parents) Purple flowers F1 Generation White flowers All plants have purple flowers Figure 9.5-3 P Generation (purebred parents) Purple flowers White flowers F1 Generation All plants have purple flowers Fertilization among F1 plants (F1 F1) F2 Generation 3 4 of plants have purple flowers 1 4 of plants have white flowers Figure 9.5a Monohybrid Crosses • Mendel developed four hypotheses from the monohybrid cross, listed here using modern terminology (including “gene” instead of “heritable factor”). 1. The alternative versions of genes are called alleles. © 2013 Pearson Education, Inc. Monohybrid Crosses 2. For each inherited character, an organism inherits two alleles, one from each parent. – An organism is homozygous for that gene if both alleles are identical. – An organism is heterozygous for that gene if the alleles are different. © 2013 Pearson Education, Inc. Monohybrid Crosses 3. If two alleles of an inherited pair differ, – then one determines the organism’s appearance and is called the dominant allele and – the other has no noticeable effect on the organism’s appearance and is called the recessive allele. © 2013 Pearson Education, Inc. Monohybrid Crosses 4. Gametes carry only one allele for each inherited character. – The two alleles for a character segregate (separate) from each other during the production of gametes. – This statement is called the law of segregation. © 2013 Pearson Education, Inc. Monohybrid Crosses • Do Mendel’s hypotheses account for the 3:1 ratio he observed in the F2 generation? • A Punnett square highlights – the four possible combinations of gametes and – the four possible offspring in the F2 generation. © 2013 Pearson Education, Inc. Figure 9.6 P Generation Genetic makeup (alleles) Purple flowers Alleles carried PP by parents Gametes White flowers pp All p All P F1 Generation (hybrids) Purple flowers All Pp Alleles segregate Gametes 1 P 2 F2 Generation (hybrids) 1 p 2 Sperm from F1 plant P p PP Pp Pp pp P Eggs from F1 plant p Phenotypic ratio Genotypic ratio 3 purple : 1 white 1 PP : 2 Pp : 1 pp Monohybrid Crosses • Geneticists distinguish between an organism’s physical appearance and its genetic makeup. – An organism’s physical appearance is its phenotype. – An organism’s genetic makeup is its genotype. © 2013 Pearson Education, Inc. Genetic Alleles and Homologous Chromosomes • A gene locus is a specific location of a gene along a chromosome. • Homologous chromosomes have alleles (alternate versions) of a gene at the same locus. © 2013 Pearson Education, Inc. Figure 9.7 Homologous chromosomes Gene loci Genotype: Dominant allele P a B P a b PP Homozygous for the dominant allele aa Homozygous for the recessive allele Recessive allele Bb Heterozygous with one dominant and one recessive allele Mendel’s Law of Independent Assortment • A dihybrid cross is the mating of parental varieties differing in two characters. • What would result from a dihybrid cross? Two hypotheses are possible: 1. dependent assortment or 2. independent assortment. © 2013 Pearson Education, Inc. Figure 9.8b Sperm 1 4 1 4 RY 1 4 rY RY 1 4 rY 1 4 Ry 1 4 ry RRYY RrYY RRYy RrYy RrYY rrYY RrYy rrYy Eggs 1 4 Ry 1 4 ry F2 Generation 9 16 Yellow round RRYy RrYy RRyy Rryy 3 16 Green round RrYy rrYy Rryy 3 16 Yellow wrinkled 1 16 Green wrinkled rryy Actual results (support hypothesis) Figure 9.8c Mendel’s Law of Independent Assortment • Mendel’s dihybrid cross supported the hypothesis that each pair of alleles segregates independently of the other pairs during gamete formation. • Thus, the inheritance of one character has no effect on the inheritance of another. • This is called Mendel’s law of independent assortment. • Independent assortment is also seen in two hereditary characters in Labrador retrievers. © 2013 Pearson Education, Inc. Figure 9.9 Blind dog Blind dog Phenotypes Genotypes Black coat, normal vision B_N_ Black coat, blind (PRA) B_nn Chocolate coat, normal vision bbN_ Chocolate coat, blind (PRA) bbnn (a) Possible phenotypes of Labrador retrievers Mating of double heterozygotes (black coat, normal vision) BbNn BbNn Blind Phenotypic ratio of offspring 9 black coat, normal vision (b) A Labrador dihybrid cross 3 black coat, blind (PRA) Blind 3 chocolate coat, normal vision 1 chocolate coat, blind (PRA) Figure 9.9a Mating of double hererozygotes (BbNn BbNn) Blind 9 black coat, normal vision 3 black coat, blind (PRA) Blind 3 chocolate coat, normal vision 1 chocolate coat, blind (PRA) Using a Testcross to Determine an Unknown Genotype • A testcross is a mating between – an individual of dominant phenotype (but unknown genotype) and – a homozygous recessive individual. © 2013 Pearson Education, Inc. Figure 9.10 Testcross Genotypes bb B_ Two possible genotypes for the black dog: BB Gametes B b Offspring Bb or Bb All black b B b Bb bb 1 black : 1 chocolate The Rules of Probability • Mendel’s strong background in mathematics helped him understand patterns of inheritance. • The rule of multiplication states that the probability of a compound event is the product of the separate probabilities of the independent events. © 2013 Pearson Education, Inc. F1 Genotypes Bb female Bb male Formation of eggs Formation of sperm F2 Genotypes Male gametes 1 2 Female gametes Figure 9.11 1 2 B B B B 1 2 b B 1 4 1 4 ( 1 1) 2 1 2 b b 2 b B 1 4 b b 1 4 Family Pedigrees • Mendel’s principles apply to the inheritance of many human traits. © 2013 Pearson Education, Inc. DOMINANT TRAITS Figure 9.12 Widow’s peak Free earlobe No freckles Straight hairline Attached earlobe RECESSIVE TRAITS Freckles Family Pedigrees • Dominant traits are not necessarily – normal or – more common. • Wild-type traits are – those seen most often in nature and – not necessarily specified by dominant alleles. © 2013 Pearson Education, Inc. Family Pedigrees • A family pedigree – shows the history of a trait in a family and – allows geneticists to analyze human traits. © 2013 Pearson Education, Inc. Figure 9.13 First generation (grandparents) Second generation (parents, aunts, and uncles) Third generation (brother and sister) Aaron Ff Betty Ff Evelyn Fred Gabe Hal FF ff ff Ff or Ff Kevin ff Female Male Attached Female Male Free Cletus ff Ina Ff Lisa FF or Ff Debra Ff Jill ff Figure 9.13a Figure 9.13b Figure 9.13c Human Disorders Controlled by a Single Gene • Many human traits – show simple inheritance patterns and – are controlled by single genes on autosomes. © 2013 Pearson Education, Inc. Table 9.1 Recessive Disorders • Most human genetic disorders are recessive. • Individuals who have the recessive allele but appear normal are carriers of the disorder. © 2013 Pearson Education, Inc. Figure 9.14 Parents Hearing Dd Hearing Dd Offspring D Sperm d D DD Hearing Dd Hearing (carrier) Dd Hearing (carrier) dd Deaf Eggs d Recessive Disorders • Cystic fibrosis is – the most common lethal genetic disease in the United States and – caused by a recessive allele carried by about one in 31 Americans. © 2013 Pearson Education, Inc. Recessive Disorders • Prolonged geographic isolation of certain populations can lead to inbreeding, the mating of close relatives. • Inbreeding increases the chance of offspring that are homozygous for a harmful recessive trait. © 2013 Pearson Education, Inc. Dominant Disorders • Some human genetic disorders are dominant. – Achondroplasia is a form of dwarfism. – The homozygous dominant genotype causes death of the embryo. – Thus, only heterozygotes have this disorder. – Huntington’s disease, which leads to degeneration of the nervous system, does not usually begin until middle age. © 2013 Pearson Education, Inc. Figure 9.15 Figure 9.16 Parents Normal (no achondroplasia) dd Dwarf (achondroplasia) Dd d Sperm D d Dd Dwarf Dd Dwarf dd Normal dd Normal Eggs d Jeremy Molly Jo Jacob Zachary Matt Amy The Process of Science: What Is the Genetic Basis of Coat Variation in Dogs? • Observation: Dogs come in a wide variety of physical types. • Question: What is the genetic basis for canine coats? • Hypothesis: A comparison of genes of a wide variety of dogs with different coats would identify the genes responsible. © 2013 Pearson Education, Inc. The Process of Science: What Is the Genetic Basis of Coat Variation in Dogs? • Prediction: Mutations in just a few genes account for the coat appearance. • Experiment: Compared DNA sequences of 622 dogs from dozens of breeds. • Results: Three genes in different combinations produced seven different coat appearances, from very short hair to full, thick, wired hair. © 2013 Pearson Education, Inc. Figure 9.17 Genetic Testing • Today many tests can detect the presence of disease-causing alleles. • Most genetic tests are performed during pregnancy. – Amniocentesis collects cells from amniotic fluid. – Chorionic villus sampling removes cells from placental tissue. • Genetic counseling helps patients understand the results and implications of genetic testing. © 2013 Pearson Education, Inc. VARIATIONS ON MENDEL’S LAWS • Some patterns of genetic inheritance are not explained by Mendel’s laws. © 2013 Pearson Education, Inc. Incomplete Dominance in Plants and People • In incomplete dominance, F1 hybrids have an appearance between the phenotypes of the two parents. © 2013 Pearson Education, Inc. Figure 9.18-1 P Generation White rr Red RR Gametes R r Figure 9.18-2 P Generation White rr Red RR Gametes r R F1 Generation Pink Rr Gametes 1 2 R 1 2 r Figure 9.18-3 P Generation White rr Red RR Gametes r R F1 Generation Pink Rr Gametes 1 2 R F2 Generation 1 2 r Sperm 1 2 1 2 R Eggs 1 2 R 1 2 r RR Rr Rr rr r Incomplete Dominance in Plants and People • Hypercholesterolemia – is a human trait that is an example of incomplete dominance and – is characterized by dangerously high levels of cholesterol in the blood. © 2013 Pearson Education, Inc. Incomplete Dominance in Plants and People • In hypercholesterolemia, – heterozygotes have blood cholesterol levels about twice normal, and – homozygotes have about five times the normal amount of blood cholesterol and may have heart attacks as early as age 2. © 2013 Pearson Education, Inc. GENOTYPE Figure 9.19 HH Homozygous for ability to make LDL receptors Hh Heterozygous hh Homozygous for inability to make LDL receptors Mild disease Severe disease PHENOTYPE LDL LDL receptor Cell Normal ABO Blood Groups: An Example of Multiple Alleles and Codominance • The ABO blood groups in humans are an example of multiple alleles. • The immune system produces blood proteins called antibodies that bind specifically to foreign carbohydrates. © 2013 Pearson Education, Inc. ABO Blood Groups: An Example of Multiple Alleles and Codominance • If a donor’s blood cells have a carbohydrate (A or B) that is foreign to the recipient, the blood cells may clump together, potentially killing the recipient. • The clumping reaction is the basis of a bloodtyping lab test. • The human blood type alleles IA and IB are codominant, meaning that both alleles are expressed in heterozygous individuals who have type AB blood. © 2013 Pearson Education, Inc. Figure 9.20 Blood Group (Phenotype) Genotypes Red Blood Cells Carbohydrate A Antibodies Present in Blood A IAIA or IAi B IBIB or IBi AB IAIB — O ii Anti-A Anti-B Carbohydrate B Anti-B Anti-A Reactions When Blood from Groups Below Is Mixed with Antibodies from Groups at Left A O B AB Figure 9.20c Pleiotropy and Sickle-Cell Disease • Pleiotropy is when one gene influences several characters. • Sickle-cell disease – exhibits pleiotropy, – results in abnormal hemoglobin proteins, and – causes disk-shaped red blood cells to deform into a sickle shape with jagged edges. © 2013 Pearson Education, Inc. Figure 9.21 Individual homozygous for sickle-cell allele Sickle-cell (abnormal) hemoglobin Colorized SEM Abnormal hemoglobin crystallizes into long flexible chains, causing red blood cells to become sickle-shaped. Sickled cells can lead to a cascade of symptoms, such as weakness, pain, organ damage, and paralysis. Figure 9.21a Polygenic Inheritance • Polygenic inheritance is the additive effects of two or more genes on a single phenotype. © 2013 Pearson Education, Inc. Figure 9.22 short allele tall allele P Generation aabbcc (very short) AABBCC (very tall) F1 Generation AaBbCc (medium height) Sperm F2 Generation 1 8 AaBbCc (medium height) 1 8 1 8 1 8 1 8 1 8 1 8 1 8 20 64 Fraction of population 1 8 1 8 Eggs 1 8 1 8 1 8 1 8 1 8 1 8 15 64 6 64 1 64 Very short 1 64 6 64 15 64 20 64 15 64 6 64 1 64 Adult height Very tall Figure 9.22a short allele tall allele P Generation aabbcc (very short) AABBCC (very tall) F1 Generation AaBbCc (medium height) AaBbCc (medium height) Figure 9.22b F2 Generation 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 1 8 short allele tall allele 1 64 6 64 15 64 20 64 15 64 6 64 1 64 Figure 9.22c Fraction of population 20 64 15 64 6 64 1 64 Very short Adult height Very tall The Role of Environment • Many human characters result from a combination of – heredity and – environment. • Only genetic influences are inherited. © 2013 Pearson Education, Inc. Figure 9.23 THE CHROMOSOMAL BASIS OF INHERITANCE • The chromosome theory of inheritance states that – genes are located at specific positions (loci) on chromosomes and – the behavior of chromosomes during meiosis and fertilization accounts for inheritance patterns. © 2013 Pearson Education, Inc. THE CHROMOSOMAL BASIS OF INHERITANCE • It is chromosomes that – undergo segregation and independent assortment during meiosis and – account for Mendel’s laws. © 2013 Pearson Education, Inc. Figure 9.24 P Generation Round-yellow seeds (RRYY) r y Y Y Wrinkled-green seeds (rryy) R R r y MEIOSIS FERTILIZATION Gametes y R Y F1 Generation All round-yellow seeds (RrYy) R R Y The R and r alleles segregate in anaphase I of meiosis. Y r MEIOSIS r R y Metaphase I (alternative arrangements) Y y r R Only one long chromosome ends up in each gamete. Gametes y Y R 1 4 Metaphase II r 1 4 Y y Y r 1 4 rY FERTILIZATION AMONG THE F1 PLANTS 9 : 3 : 3 They are arranged in either of two equally likely ways at metaphase I. R r ry Law of Independent Assortment: Follow both the long and the short chromosomes. r Y y r RY Fertilization recombines the r and R alleles at random. F2 Generation y Y Y R y r Law of Segregation: Follow the long chromosomes (carrying R and r) taking either the left or right branch. r :1 They sort independently, giving four gamete types. y y R R 1 4 Ry Fertilization results in the 9:3:3:1 phenotypic ratio in the F2 generation. Figure 9.24a F1 Generation All round-yellow seeds (RrYy) Law of Independent Assortment: Follow both the long and the short chromosomes. R Law of Segregation: Follow the long chromosomes. Y The R and r alleles segregate in anaphase I. R Only one long chromosome ends up Y in each gamete. R r r R Y y Y y Y R 1 4 RY Fertilization recombines the r and R alleles at random. r R y Y y Y y r r 1 4 They are arranged in either of two equally likely ways at metaphase I. r y Y R y r ry r 1 4 rY y y Y r They sort independently, giving four gamete types. R R 1 4 Ry Fertilization results in the 9:3:3:1 phenotypic ratio in the F2 generation. Linked Genes • Linked genes – are located close together on a chromosome and – tend to be inherited together. • Thomas Hunt Morgan – used the fruit fly Drosophila melanogaster and – determined that some genes were linked based on the inheritance patterns of their traits. © 2013 Pearson Education, Inc. Figure 9.25-1 Dihybrid testcross Gray body, long wings (wild-type) Black body, short wings (mutant) GgLl ggll Female Male Figure 9.25-2 Dihybrid testcross Gray body, long wings (wild-type) Black body, short wings (mutant) GgLl ggll Female Male Results Offspring Gray-long GgLl 965 Black-short ggll 944 Parental phenotypes 83% Gray-short Ggll 206 Black-long ggLl 185 Recombinant phenotypes 17% Genetic Recombination: Crossing Over • Crossing over can – separate linked alleles, – produce gametes with recombinant gametes, and – produce offspring with recombinant phenotypes. • The percentage of recombinant offspring among the total is called the recombination frequency. © 2013 Pearson Education, Inc. Figure 9.26 A B a b A B Parental gametes a b Pair of homologous chromosomes Crossing over A b a B Recombinant gametes Figure 9.27 GgLl (female) GL gl gl gl ggll (male) CROSSING OVER gl GL Gl gL gl Sperm Parental gametes Recombinant gametes Eggs FERTILIZATION Offspring GL gl Gl gL gl gl gl gl Parental Recombinant Linkage Maps • Early studies of crossing over were performed using the fruit fly Drosophila melanogaster. • Alfred H. Sturtevant, a student of Morgan, – developed a method for mapping the relative gene locations, – which resulted in the creation of linkage maps. © 2013 Pearson Education, Inc. Figure 9.28 Chromosome g c l 17% 9% 9.5% Recombination frequencies SEX CHROMOSOMES AND SEX-LINKED GENES • Sex chromosomes influence the inheritance of certain traits. For example, humans that have a pair of sex chromosomes designated – X and Y are male or – X and X are female. © 2013 Pearson Education, Inc. Figure 9.29a Male 44 XY 22 X Female 44 Somatic cells XX 22 Y Sperm 44 XX 22 X Egg Offspring Female 44 XY Male Figure 9.29b X Colorized SEM Y Sex Determination in Humans • Nearly all mammals have a pair of sex chromosomes designated X and Y. – Males have an X and Y. – Females have XX. © 2013 Pearson Education, Inc. Sex-Linked Genes • Any gene located on a sex chromosome is called a sex-linked gene. – Most sex-linked genes are found on the X chromosome. – Red-green colorblindness is – a common human sex-linked disorder and – caused by a malfunction of light-sensitive cells in the eyes. © 2013 Pearson Education, Inc. Figure 9.30 Figure 9.31 XNXN Xn X nY Y XNXn XN Sperm Eggs XN XNXn XNY Eggs XN XN XNXn XNY Xn (a) Normal female colorblind male XNY Y XNXn Carrier X nY (b) Carrier female normal male Colorblind individual Xn Sperm XNXN XNY Key Unaffected individual XNXn Eggs XN Xn X nY Y Sperm XNXn XNY X nX n X nY (c) Carrier female colorblind male Figure 9.31a XNXN XnY Key Unaffected individual Xn Y Sperm Carrier Colorblind individual Eggs XN XNXn XNY XN XNXn XNY (a) Normal female colorblind male Figure 9.31b XNXn XNY Key Unaffected individual XN Y Sperm Carrier Colorblind individual Eggs XN XNXN XNY Xn XNXn XnY (b) Carrier female normal male Figure 9.31c XNXn XnY Key Unaffected individual Xn Y Sperm Carrier Colorblind individual Eggs XN Xn XNXn XNY XnXn XnY (c) Carrier female colorblind male Sex-Linked Genes • Hemophilia – is a sex-linked recessive blood-clotting trait that may result in excessive bleeding and death after relatively minor cuts and bruises and – has plagued the royal families of Europe. © 2013 Pearson Education, Inc. Figure 9.32 Albert Queen Victoria Alice Louis Alexandra Czar Nicholas II of Russia Alexis Evolution Connection: Barking Up the Evolutionary Tree • About 15,000 years ago in East Asia, people began to cohabit with ancestral canines that were predecessors of modern wolves and dogs. • As people settled into geographically distinct populations, – different canines became separated and – eventually became inbred. © 2013 Pearson Education, Inc. Evolution Connection: Barking Up the Evolutionary Tree • A 2010 study indicated that small dogs were developed within the first permanent agricultural settlements of the Middle East around 12,000 years ago. • Continued over millennia, genetic tinkering has resulted in a diverse array of dog body types and behaviors. © 2013 Pearson Education, Inc. Figure 9.33 Wolf Ancestral canine Chinese shar-pei Akita Basenji Siberian husky Alaskan malamute Afghan hound Saluki Rottweiler Sheepdog Retriever Figure 9.33a Figure 9.UN08