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PowerLecture: Chapter 11
Observing Patterns in Inherited Traits
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Early Ideas about Heredity
Blending theory Problem: Variation in traits persists
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Gregor Mendel Fig. 11-2, p.170
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Genes Fig. 12-2, p.188
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Allele Combinations Homozygous Heterozygous
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A pair of homologous chromosomes, each in the unduplicated state (most often, one from a male parent and its partner from a female parent) A gene locus (plural, loci), the location for a specific gene on a chromosome. Alleles are at corresponding loci on a pair of homologous chromosomes A pair of alleles may be identical or nonidentical. They are represented in the text by letters such as D or d Three pairs of genes (at three loci on this pair of homologous chromosomes); same thing as three pairs of alleles Fig. 11-4, p.171
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Genotype & Phenotype Genotype - the particular genes an individual carries Phenotype - an individual’s observable traits
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Probability The chance that each outcome of a given event will occur is proportional to the number of ways that event can be reached
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Tracking Generations Parental generation P mates to produce
First filial F1 mate to produce Second filial F2
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Experimental intercross between
Monohybrid Crosses Experimental intercross between two F1 heterozygotes AA X aa Aa (F1 monohybrids) Aa X Aa ?
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Monohybrid Cross Illustrated
True-breeding homozygous recessive parent plant homozygous dominant An F1 plant self-fertilizes and produces gametes: F1 PHENOTYPES F2 PHENOTYPES aa Aa AA A a Monohybrid Cross Illustrated Figure 11.7 Page 173
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Mendel’s Monohybrid Cross Results
5,474 round 1,850 wrinkled 6,022 yellow 2,001 green 882 inflated 299 wrinkled 428 green 152 yellow F2 plants showed dominant-to-recessive ratio that averaged 3:1 705 purple 224 white 651 long stem 207 at tip 787 tall 277 dwarf Fig. 11-6, p. 172
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F2 Dominant-to- Recessive Ratio
Trait Studied Dominant Form Recessive Form F2 Dominant-to- Recessive Ratio SEED SHAPE 5,474 round 1,850 wrinkled 2.96:1 SEED COLOR 6,022 yellow 2,001 green 3.01:1 POD SHAPE 882 inflated 299 wrinkled 2.95:1 POD COLOR 428 green 152 yellow 2.82:1 FLOWER COLOR 705 purple 224 white 3.15:1 FLOWER POSITION 651 long stem 207 at tip 3.14:1 STEM LENGTH 787 tall 277 dwarf 2.84:1 Fig. 11-6, p.172
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Mendel’s Theory of Segregation
An individual inherits a unit of information (allele) about a trait from each parent During gamete formation, the alleles segregate from each other
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Mendel’s Theory of Segregation
Homozygous dominant parent Homozygous recessive parent Mendel’s Theory of Segregation (chromosomes duplicated before meiosis) meiosis I meiosis II (gametes) (gametes) fertilization produces heterozygous offspring Fig. 11-5, p.172
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Test Cross dominant phenotype crossed with recessive phenotype
Examining offspring determines genotype of dominant individual
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Punnett Squares of Test Crosses
True-breeding homozygous recessive parent plant F1 PHENOTYPES aa True-breeding homozygous dominant parent plant Aa Aa a a A Aa Aa AA A Aa Aa Aa Aa Fig. 11-7b1, p.173
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Punnett Squares of Test Crosses
An F1 plant self-fertilizes and produces gametes: F2 PHENOTYPES Aa AA Aa A a A AA Aa a Aa aa Aa aa Fig. 11-7b2, p.173
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Dihybrid Cross: F1 Results
purple flowers, tall white flowers, dwarf TRUE- BREEDING PARENTS: AABB x aabb GAMETES: AB AB ab ab AaBb F1 HYBRID OFFSPRING: All purple-flowered, tall
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Dihybrid Cross: F2 Results
AaBb X AaBb 1/4 AB 1/4 Ab 1/4 aB 1/4 ab 9/16 purple-flowered, tall 1/4 AB 1/16 AABB 1/16 AABb 1/16 AaBB 1/16 AaBb 3/16 purple-flowered, dwarf 3/16 white-flowered, tall 1/4 Ab 1/16 AABb 1/16 AAbb 1/16 AaBb 1/16 Aabb 1/16 white-flowered, dwarf 1/4 aB 1/16 AaBB 1/16 AaBb 1/16 aaBB 1/16 aaBb 1/16 AaBb 1/16 Aabb 1/16 aaBb 1/16 aabb 1/4 ab
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Independent Assortment
Mendel concluded that “units” one trait assorted independently of the “units” for the other trait homologous chromosomes are sorted at random during meiosis
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Independent Assortment
Metaphase I: OR A A a a A A a a B B b b b b B B Metaphase II: A A a a A A a a B B b b b b B B Gametes: B B b b b b B B A A a a A A a a 1/4 AB 1/4 ab 1/4 Ab 1/4 aB
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(n is the number of gene loci at which the parents differ)
Tremendous Variation Number of genotypes possible in offspring due to independent assortment and hybrid crossing is 3n (n is the number of gene loci at which the parents differ)
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Impact of Mendel’s Work
Mendel presented his results in 1865 Paper received little notice Mendel discontinued his experiments in 1871 Paper rediscovered in 1900
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Dominance Relations Complete dominance Incomplete dominance
Codominance
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Incomplete Dominance X All F1 offspring heterozygous for flower color:
homozygous parent X homozygous parent All F1 offspring heterozygous for flower color: Cross two of the F1 plants and the F2 offspring will show three phenotypes in a 1:2:1 ratio: Fig , p.176
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Codominance: ABO Blood Types
ABO type Gene codes for enzyme that dictates structure of a blood cell glycolipid Two alleles (IA and IB) are codominant when paired Third allele (i) is recessive to others
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ABO Blood Type Range of genotypes: IAIA IBIB or or IAi IAIB IBi ii
Fig a, p.176
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ABO and Transfusions Recipient’s immune system attacks blood cells with unfamiliar glycolipid on surface Type O is universal donor because it has neither type A nor type B glycolipid
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Pleiotropy Alleles at a single locus may have effects on two or more traits Marfan syndrome - Mutation in gene for fibrillin affects skeleton, cardiovascular system, lungs, eyes, and skin
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Epistasis Interaction between the products of gene pairs
Common among genes for hair color in mammals
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Epistasis Fig , p.177
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Coat Color in Retrievers (Epistasis)
BBEE X bbee F1 puppies are all BbEe F2 puppies BE Be bE be BE BBEE BBEe BbEE BbEe black Be BBEe BBee BbEe Bbee brown bE BbEE BbEe bbEE bbEe yellow be BbEe Bbee bbEe bbee
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Comb Shape in Poultry rose comb pea comb walnut comb single comb X
RRpp pea rrPP F1 all walnut RrPp RrPp RrPp F2 9/16 walnut RRPP, RRPp,RrPP, or RrPp 3/16 rose RRpp or Rrpp 3/16 pea rrPP or rrPp 1/16 single rrpp Fig , p.177
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Crossing Over
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Linkage Groups Genes on one type of chromosome travel together
Degree of linkage may vary
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Full Linkage A B a b x Parents: A B a b AB ab F1 offspring: All AaBb
meiosis, gamete formation Equal ratios of two types of gametes: A B a b Figure Page 178 50% AB 50% ab
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Incomplete Linkage AC ac A C a c x Parents: A C a c F1 offspring:
All AaCc meiosis, gamete formation A a A a Unequal ratios of four types of gametes: C c c C parental genotypes recombinant genotypes Figure Page 178
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Crossover Frequency Proportional to the distance that separates genes
B C D Crossing over will disrupt linkage between A and B more often than C and D In-text figure Page 178
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Linkage Mapping in Humans
Linkage maps based on pedigree analysis through generations Color blindness and hemophilia are very closely linked on X chromosome
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Environmental Effects on Plant Phenotype
Hydrangea macrophylla Action of gene responsible for floral color is influenced by soil acidity Flower color ranges from pink to blue
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Environmental Effects on Plant Phenotype
Fig a, p.179
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Environmental Effects on Plant Phenotype
Fig b, p.179
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Temperature Effects on Phenotype
This Rabbit is homozygous for allele producing heat-sensitive version of an enzyme in melanin-producing pathway Melanin is produced in cooler areas of body Figure Page 179
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This Siamese cat, raised in a cold environment in Moscow in the late 20s, developed a relatively dark coat. An area on his shoulder was shaved, and the cat wore a warm jacket while the fur was growing back. When the shaved hair grew back in, it was white, the same color as the cat's belly, due to the increased temperature under the jacket. This was not due to scarring, as the hair grew in normally colored later.
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Campodactyly: Unexpected Phenotypes
Effect of allele varies: Bent fingers on both hands Bent fingers on one hand No effect Many factors affect gene expression
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Continuous Variation Relatively continuous range of differences in a given trait among individuals More genes and environmental factors affect trait - more continuous variation
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Human Variation Some human traits occur as a few discrete types
Attached or detached earlobes Many genetic disorders Other traits show continuous variation Height Weight Eye color
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Continuous Variation Variation in human eye color Fig , p.180
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Describing Continuous Variation
Range of values for the trait Number of individuals with some value of the trait Range of values for the trait Number of individuals with some value of the trait (line of bell-shaped curve indicates continuous variation in population)
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Describing Continuous Variation
Fig , p.181
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Fig , p.183
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