Gregor Mendel Austrian monk Studied science and mathematics at University of Vienna Conducted breeding experiments with the garden pea Pisum sativum Carefully gathered and documented mathematical data from his experiments Formulated fundamental laws of heredity in early 1860s Had no knowledge of cells or chromosomes Did not have a microscope

Gregor Mendel

Fruit and Flower of the Garden Pea

Garden Pea Traits Studied by Mendel

Blending Inheritance Theories of inheritance in Mendel’s time: Based on blending Parents of contrasting appearance produce offspring of intermediate appearance Mendel’s findings were in contrast with this He formulated the particulate theory of inheritance Inheritance involves reshuffling of genes from generation to generation

One-Trait Inheritance Mendel performed cross-breeding experiments Used “true-breeding” (homozygous) plants Chose varieties that differed in only one trait (monohybrid cross) Performed reciprocal crosses Parental generation = P First filial generation offspring = F1 Second filial generation offspring = F2 Formulated the Law of Segregation

Mendel’s Monohybrid Crosses: An Example

Law of Segregation

Law of Independent Assortment

Figure 11A

Modern Genetics View Each trait in a pea plant is controlled by two alleles (alternate forms of a gene) _____________ allele (capital letter) masks the expression of the _______ allele (lower- case) Alleles occur on a homologous pair of chromosomes at a particular gene locus ____________ = identical alleles ____________ = different alleles

Homologous Chromosomes

Genotype Versus Phenotype Refers to the two alleles an individual has for a specific trait If identical, genotype is ____________ If different, genotype is ____________ Phenotype Refers to the physical appearance of the individual

Punnett Square Table listing all possible genotypes resulting from a cross All possible sperm genotypes are lined up on one side All possible egg genotypes are lined up on the other side Every possible zygote genotypes are placed within the squares

Punnett Square Showing Earlobe Inheritance Patterns

Monohybrid Testcross Individuals with recessive phenotype always have the homozygous recessive genotype However, Individuals with dominant phenotype have indeterminate genotype May be homozygous dominant, or Heterozygous Test cross determines genotype of individual having dominant phenotype

One-Trait Test Cross Unknown is Heterozygous

One-Trait Test Cross Unknown is Homozygous Dominant

Two-Trait Inheritance Dihybrid cross uses true-breeding plants differing in two traits Observed phenotypes among F2 plants Formulated Law of Independent Assortment The pair of factors for one trait segregate independently of the factors for other traits All possible combinations of factors can occur in the gametes

Two-Trait (Dihybrid) Cross

Dihybrid Cross

Mendelian Inheritance Reflects Rules of Probability Rules of Multiplication: The probability that independent events will occur simultaneously is the product of their individual probabilities.

Mendelian Inheritance Reflects Rules of Probability Question: In a Mendelian cross between pea plants that are heterozygous for flower color (Pp), what is the probability that the offspring will be homozygous recessive? Answer: Probability that an egg from the F1 (Pp) will receive a p allele = ½ Probability that a sperm from the F1 will receive a p allele = ½ Overall probability that 2 recessive alleles will unite at fertilization: ½ x ½ = ¼

Mendelian Inheritance Reflects Rules of Probability Works for Dihybrid Crosses: Question: For a dihybrid cross, YyRr x YyRr, what is the probability of an F2 plant having the genotype YYRR? Answer: Probability that an egg from a YyRr parent will receive the Y and R alleles = ½ x ½ = ¼ Probability that a sperm from a YyRr parent will receive the Y and R alleles = ½ x ½ = ¼ Overall probability of an F2 plant having the genotype YYRR: ¼ x ¼ = 1/16

Mendelian Inheritance Reflects Rules of Probability Rules of Addition: The probability of an event that can occur in two or more independent ways is the sum of the separate probabilities of the different ways. Question: In a Mendelian cross between pea plants that are heterozygous for flower color (Pp), what is the probability that the offspring will being a heterozygote? Answer: There are 2 ways in which a heterozygote may be produced: the dominant allele may be in the egg and the recessive allele in the sperm, or the dominant allele may be in the sperm and the recessive allele in the egg.

Mendelian Inheritance Reflects Rules of Probability Probability that the dominant allele will be in the egg with the recessive in the sperm is ½ x ½ = ¼ Probability that the dominant allele will be in the sperm with the recessive in the egg is ½ x ½ = ¼ Therefore, the overall probability that a heterozygote offspring will be produced is ¼ + ¼ = ½

Incomplete Dominance Heterozygote has phenotype intermediate between that of either homozygote Homozygous red has red phenotype Homozygous white has white phenotype Heterozygote has pink (intermediate) phenotype Phenotype reveals genotype without test cross

Incomplete Dominance

Multiple Allelic Traits Some traits controlled by multiple alleles The gene exists in several allelic forms (but each individual only has two) ABO blood types The alleles: IA = A antigen on red cells, anti-B antibody in plasma IB = B antigen on red cells, anti-AB antibody in plasma i = Neither A nor B antigens, both antibodies

Multiple Allelic Traits Phenotype (Blood Type) Genotype A (actually AA or AO) IAIA or IAi B (actually BB or BO) IBIB or IBi AB IAIB O (actually OO) ii

Inheritance of Blood Type

Polygenic Inheritance Occurs when a trait is governed by two or more genes having different alleles Each dominant allele has a quantitative effect on the phenotype These effects are additive Result in continuous variation of phenotypes

Height in Human Beings

Frequency Distributions in Polygenic Inheritance

Terminology Pleiotropy Codominance __________________________ ______________________________ Sickle-cell (incomplete dominance) Codominance __________________________ ABO blood type (multiple allelic traits) Epistasis ________________________________ Human skin color (polygenic inheritance)

Epistasis Epistasis: absence of expected phenotype as a result of masking expression of one gene pair by the expression of another gene pair. The homozygous recessive condition masks the effect of a dominant allele at another locus.

Environment and Phenotype: Himalayan Rabbits Both genotype and environment affect phenotype; relative importance of both influences vary. Fur was plucked out & an ice pack applied. New fur grew in black. Temperature can affect the phenotypes of some plants (e.g., primroses) and animals (e.g.,Siamese cats, Himalayan rabbits). Conclusion: the enzyme that produces melanin (a dark pigment) in rabbits is active only at low temperatures.

Human Genetic Disorders Autosome - Any chromosome other than a sex chromosome Genetic disorders caused by genes on autosomes are called autosomal disorders Some genetic disorders are autosomal dominant An individual with AA has the disorder An individual with Aa has the disorder An individual with aa does NOT have disorder Other genetic disorders are autosomal recessive An individual with AA does NOT have disorder An individual with Aa does NOT have disorder, but is a carrier An individual with aa DOES have the disorder

Autosomal Recessive Pedigree Chart

Autosomal Dominant Pedigree Chart

Autosomal Recessive Disorders Tay-Sachs Disease Progressive deterioration of psychomotor functions Cystic Fibrosis Mucus in bronchial tubes and pancreatic ducts is particularly thick and viscous Phenylketonuria (PKU) Lack enzyme for normal metabolism of phenylalanine

Cystic Fibrosis Therapy

Autosomal Dominant Disorders Neurofibromatosis Tan or dark spots develop on skin and darken Small, benign tumors may arise from fibrous nerve coverings Huntington Disease Neurological disorder Progressive degeneration of brain cells Severe muscle spasms Personality disorders

A Victim of Huntington Disease

Human Genetic Disorders Review Blending Inheritance Monohybrid Cross Law of Segregation Modern Genetics Genotype vs. Phenotype Punnett Square Dihybrid Cross Law of Independent Assortment Human Genetic Disorders