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The Inheritance of Traits. Offspring resemble their parents, but not exactly. Siblings resemble each other, but not exactly. How much is because of environment? How much is inherited?. The Inheritance of Traits. The human life cycle: Adults produce gametes in their gonads by meiosis .
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The Inheritance of Traits Offspring resemble their parents, but not exactly. Siblings resemble each other, but not exactly. How much is because of environment? How much is inherited?
The Inheritance of Traits The human life cycle: Adults produce gametes in their gonads by meiosis. Sperm cells fertilize egg cells to form single-celled zygotes. Repeated cell divisions form the embryo.
The human life cycle, cont.: The embryo grow to become a fetus. After birth, the individual continues to grow until reaching adulthood.
The Inheritance of Traits Genes are segments of DNA that code for proteins. Analogous to words in an instruction manual for building a human We have many genes on each of our chromosomes. Chromosomes are analogous to pages in the instruction manual. Each “page” contains thousands of “words” Different types of cells use different words, in different orders
The Inheritance of Traits - Producing Diversity in Offspring Mistakes in copying DNA (mutations) produce different versions of genes (alleles), with different results.
The Inheritance of Traits - Producing Diversity in Offspring Parent cell has two complete copies of the manual: 23-page copy from mom and 23-page copy from dad 23 pairs of homologous chromosomes
Segregation: in meiosis, one member of each homologous pair goes into a gamete Gamete gets just one copy of each page of the manual Independent assortment randomly determines which member of a pair of chromosomes goes into a gamete This is due to random alignment during metaphase I About 8 million different combinations of chromosomes.
Parent cells have 2 copies of each chromosome—that is, 2 full sets ofinstruction manual pages, 1 from each parent. Sperm and egg cells each have only 1 full set—a random combinationof maternal and paternal instruction manual pages. Possible sperm cell 1 Possible sperm cell 2 Page 9Eye-colorgenes fromdad Page 3Blood-groupgene from dad Page 9Eye-color genesfrom mom Page 3Blood-groupgene from mom • Siblings share 50% of alleles with each other, on average Figure 6.6
Random fertilization produces more diversity: 64 trillion possibilities! No two humans are genetically identical, except for monozygotic twins. Dizygotic twins are 50% identical - just like siblings born at different times.
Mendelian Genetics: When the Role of Genes Is Clear Gregor Mendel: first to accurately describe rules of inheritance for simple traits His research involved controlled mating between pea plants. His pattern of inheritance occurs primarily in traits that are due to a single gene with a few alleles. Mendel’s principles also apply to many genetic diseases in humans.
Phenotype: physical traits of an individual Genotype: description of the alleles for a particular gene in an individual Homozygous (-ote): both alleles for a gene are identical Heterozygous (-ote): the gene has two different alleles Recessive: the phenotype of an allele is seen only when homozygous Dominant: the phenotype is seen when homozygous or heterozygous
2 3 1 A pea flower normally self-pollinates. Pollen from another flower is dabbedon to stigma. Paint brush Stigma Anthers(containspollen) Ovule Pollen containing structures can beremoved to prevent self-fertilization. Tweezers The resulting seeds willcontain information onflower color, seed shapeand color, and plantheight from both parents.
Monohybrid Crosses • A monohybrid cross is a cross between parent plants that differ in only one characteristic.
Mendelian Genetics: When the Role of Genes Is Clear • Mendel developed four hypotheses from the monohybrid cross: • There are alternative forms of genes, called alleles. • For each characteristic, an organism inherits two alleles, one from each parent. • Alleles can be dominant or recessive. • Gametes carry only one allele for each inherited characteristic.
Mendel’s law of segregation • The two members of an allele pair segregate (separate) from each other during the production of gametes. • An explanation of Mendel’s results, including a Punnett square
Cystic fibrosis: a recessive human genetic disease Defect in chloride ion transport Causes recurrent lung infections, dramatically shortened lifespans Heterozygotes (carriers) do not show the symptoms Most common recessive disease among Europeans
Huntington’s disease: a dominant human genetic disease Progressive, incurable, always fatal Symptoms occur in middle age Mutant protein forms clumps inside nerve cell nuclei, killing the cells Having a normal allele cannot compensate for this
Punnett square: graphic way to predict possible outcomes of a cross Consider a cross between two cystic fibrosis carriers “F” = normal allele; “f” = recessive disease allele The cross would be: F f x F f What offspring could result?
Animation: Mendel’s Experiments Click “Go to Animation” / Click “Play”
Quantitative Genetics: When Genes and Environment Interact Quantitative traits show continuous variation: Large range of phenotypes E.g., height, weight, intelligence Variation due to both genetic and environmental differences Heritability: proportion of the variation within a population due to genetic differences among individuals
(a) Normal distribution of student height in onecollege class 5 ft, 10 in (1.78 m ) Mean Bell-shapedcurve Number of men Variability Height (ft, in) • Mean: sum up all the phenotypic values and divide by the number of individuals; same as the average. Figure 6.16a
Quantitative Genetics - Why Traits Are Quantitative Quantitative traits, with continuous variation, are polygenic traits. Result of several genes Each with more than one allele Interaction of multiple genes with multiple alleles results in many phenotypes. Example: human eye color Heritability: proportion of the variation within a population due to genetic differences among individuals
Quantitative Genetics - Calculating Heritability in Human Populations Have to use correlation to measure heritability in humans Scientists seek “natural experiments,” situations in which either the overlap in genes or environment is removed Twins are often used Monozygotic twins share all their genes and their environment Dizygotic twins share environment, but only half their genes
Usually influenced by both genes and environment • Monozygotic twins, genetically identical, but different environments Figure 6.17
Genes, Environment, and the Individual - The Use and Misuse of Heritability Differences between groups may be environmental, despite a high heritability A heritability value pertains just to the population in which it was measured, and to the environment of that population Imagine a laboratory population of mice of varying weights Divide this population into 2 genetically identical groups Give one group a rich diet, the other a poor diet The “rich diet” mice will be bigger than the “poor diet” mice.
Genes, Environment, and the Individual - The Use and Misuse of Heritability Allow the mice in each group to breed, maintaining their diets. Measure the weight of adult offspring; correlation with parents shows high heritability.
Genes, Environment, and the Individual - The Use and Misuse of Heritability Instead of body weight in mice, consider IQ in humans. Affluent group: higher IQs Impoverished group: lower IQs Conclude that the difference is probably due to genetics?
Heritability does not tell us about individual differences. Heritability is based on variances in populations. High heritability value for a trait does not automatically mean that most of the difference between two individuals is genetic.
Genes, Environment, and the Individual - How Do Genes Matter? Genes have a strong influence on even complex traits. But, independent assortment of multiple genes with multiple alleles produces a large number of phenotypes. Environment can also have big effects. For quantitative traits, it is difficult to predict the phenotype of children from the phenotypes of the parents.
Quantitative Genetics - Measuring Heritability in Animals • Artificial selection: • Only the cow giving the most milk was allowed to breed • The next generation has a higher mean milk production • Milk production has a high heritability
2.6 Average = 2.6gallons of milkper day Selective breedingof most productivecow with a bull 3.2 Average = 3.2gallons of milkper day • Artificial selection: Figure 6.19
Genes are segments of DNA that code for ________. • proteins • centromeres • carbohydrates • karyotypes
Prokaryotes typically contain _______. • single, circular chromosomes • multiple, circular chromosomes • multiple, linear chromosomes • no chromosomes
Which of these events does not contribute to unique combinations of alleles. • Mutations • Independent assortment • Random fertilization • Cell cycle checkpoints
True or False: Monozygotic twins occur when two separate eggs fuse with different sperm. • True. • False.
A pea plant has one recessive allele for wrinkled seeds and one dominant allele for smooth seeds. What will the pea plant look like? • Wrinkle • Smooth • Half wrinkled, half smooth • Not enough information to tell
Two heterozygotes mate. What are the odds that their offspring will be homozygous recessive? • 100% • 75% • 50% • 25%
Does nature or nurture play a bigger role in determining who we are? • Nature • Nurture • They both play a large role
The Punnett square shown here illustrates the outcome of a cross between a man who carries a single copy of the dominant Huntington’s disease allele and an unaffected woman. What are the odds that Huntington’s disease will not be passed to this offspring? • 100% • 75% • 50% • 25%
This Punnett square illustrates the likelihood that a woman who carries the cystic fibrosis allele would have a child with cystic fibrosis if the sperm donor were also a carrier. What are the odds that this offspring will have cystic fibrosis? • 100% • 75% • 50% • 25%