Genetics: Mendel and Beyond
Genetics: Mendel and Beyond
• The Foundations of Genetics
• Mendel's Experiments and the Laws of Inheritance
• Alleles and Their Interactions
• Gene Interactions
• Genes and Chromosomes
• Sex Determination and Sex-Linked Inheritance
• Non-Nuclear Inheritance
The Foundations of Genetics
• Five thousand years ago or earlier, people were using ________ genetics in the form of plant and animal breeding.
• The foundation for the science of genetics was laid in 1866, when Gregor Mendel used varieties of ________ to conduct experiments on inheritance.
• Mendel's research was ________ until the turn of the twentieth century.
The Foundations of Genetics
• Plants have some desirable characteristics for genetic studies:
§ They can be grown in large quantities.
§ They produce large numbers of offspring.
§ They have relatively short generation times.
§ Many have both male and female reproductive organs, making ________ possible.
§ It is easy to control which individuals mate.

The Foundations of Genetics
• Josef Gottlieb Kφlreuter made a few observations that Mendel later found useful.
• His study of reciprocal crosses helped prove that both male and female parents contribute ________ to the characteristics inherited by offspring.
• Before the acceptance of Mendel's research, the concept of ________ was favored.
• It was thought, for example, that the purple flowers resulting from red and blue parents could not be separated.
The Foundations of Genetics
• Gregor Mendel worked out the basic principles of inheritance in plants in the mid-1800s but his theory was generally ignored until the 1900s.
• After meiosis had been described, several researchers realized that ________ and meiosis provided an explanation for Mendel's theory.
Mendel's Experiments and the Laws of Inheritance
• Mendel selected varieties of peas that could be studied for their ________ characters and traits.
• Mendel looked for characters that had well-defined alternative traits and that were true- breeding, or that occur through many generations of breeding individuals.
• Mendel developed true-breeding strains to be used as the parental generation, designated P.
Mendel's Experiments and the Laws of Inheritance
• The progeny from the cross of the P parents are called the first ________ generation, designated F1.
• When F1 individuals are crossed to each other or self-fertilized, their progeny are designated F2.
• Mendel's well-organized plan allowed him to observe and record the traits of each generation in sufficient quantity to explain the relative proportions of the kinds of progeny.
Mendel's Experiments and the Laws of Inheritance
• Mendel's experiment 1:
§ A monohybrid cross involves one________ (seed shape) and different________ (spherical or wrinkled).
§ The F1 seeds were all spherical; the wrinkled trait failed to appear at all.
§ Because the spherical trait completely masks the wrinkled trait when true-breeding plants are crossed, the spherical trait is considered dominant and the wrinkled trait recessive.
Mendel's Experiments and the Laws of Inheritance
• Mendel's experiment 1 continued:
§ The F1 generation was allowed to self-pollinate to produce F2 seeds.
§ In the F2 generation, the ratio of spherical seeds to wrinkled seeds was 3:1.

Mendel's Experiments and the Laws of Inheritance
• From these results, Mendel reached several conclusions:
§ The units responsible for inheritance are discrete particles that exist within an organism in ________ and separate during gamete formation; this is called the ________ theory.
§ Each pea has ________ units of inheritance for each character.
§ During production of gametes, only one of the pair for a given character passes to the gamete.
§ When fertilization occurs, the ________ gets one unit from each parent, restoring the pair.
Mendel's Experiments and the Laws of Inheritance
• Mendel's units of inheritance are now called genes; different forms of a gene are called________
• True-breeding individuals have two copies of the same________ (i.e., they are homozygous).
• Some smooth-seeded plants are Ss or ________ although they will not be true-breeding.
• The physical appearance of an organism is its ________ the actual composition of the organism's alleles for a gene is its genotype.
Mendel's Experiments and the Laws of Inheritance
• Mendel's first law is called the law of segregation: Each gamete receives one member of a pair of alleles.
• Determination of possible allelic combinations resulting from fertilization can be accomplished by means of a Punnett square.

Mendel's Experiments and the Laws of Inheritance
• Now it is known that a gene is a portion of the chromosomal DNA that resides at a particular site (called a locus) and that the gene codes for a particular function.
• Mendel arrived at the law of segregation with no knowledge of meiosis or chromosomes. Today, the known mechanism of chromosome separation in meiosis I explains his law of segregation.

Mendel's Experiments and the Laws of Inheritance
• Mendel verified his hypothesis by performing a test cross.
• A test cross of an individual with a ________ trait with a true-breeding________ (homozygous recessive) can determine the first individual's genotype.
• If the unknown is heterozygous, approximately half the progeny will have the dominant trait and half will have the recessive trait.
• If the unknown is homozygous ________ all the progeny will have the dominant trait.

Mendel's Experiments and the Laws of Inheritance
• Mendel's second law, the law of independent assortment, states that alleles of different genes (e.g., Ss and Yy ) assort into gametes independently of each other.
• To determine this, he used dihybrid crosses, or hybrid crosses involving additional characters.
• The dihybrid SsYy produces four possible gametes that have one allele of each gene: SY, Sy, sY, and sy.
• Random fertilization of gametes results in offspring with phenotypes in a 9:3:3:1 ratio.

Mendel's Experiments and the Laws of Inheritance
• The basic conventions of probability:
§ If an event is certain to happen, its probability is 1.
§ If the event cannot happen, its probability is 0.
§ Otherwise the probability is between 0 and 1.
Mendel's Experiments and the Laws of Inheritance
• To determine the probability that two ________ events will both happen, the general rule is to multiply the probabilities of the individual events.
• Monohybrid cross probabilities:
§ In the example of smooth and wrinkled seeds, the probability of a gamete being S is ½.
§ The probability that an F2 plant will be SS is
1/2 x 1/2 = 1/4

Mendel's Experiments and the Laws of Inheritance
• The probability of an event that can occur in two or more different ways is the ________ of the individual probabilities of those ways.
• The genotype Ss can result from s in the female gamete (egg) and S in the male gamete (sperm), or vice versa.
• Thus the probability of heterozygotes in the F2 generation of a monohybrid cross is
1/4 + 1/4 = 1/2
Mendel's Experiments and the Laws of Inheritance
• To calculate the probabilities of the outcomes of dihybrid crosses, multiply the outcomes from each of the individual monohybrid components.
• An F1 (dihybrid) cross of SsYy generates 1/4 SS, 1/2 Ss, 1/4 ss, and 1/4 YY, 1/2 Yy, 1/4 yy.
• The probability of the SSYy genotype is the probability of the SS genotype (1/4), times the probability of the Yy genotype (1/2), which is 1/8 (1/4 x 1/2 = 1/8).
Mendel's Experiments and the Laws of Inheritance
• Because humans cannot be studied using planned crosses, human geneticists rely on ________ which show phenotype segregation in several generations of related individuals.
• Since humans have such small numbers of offspring, human pedigrees do not show clear proportions.
• In other words, outcomes for small samples fail to follow the expected outcomes closely.
Mendel's Experiments and the Laws of Inheritance
• If neither parent has a given phenotype, but it shows up in their progeny, the trait is recessive and the parents are heterozygous.
• Half of the children from such a cross will be carriers (heterozygous for the trait).
• The chance of any one child's getting the trait is 1/4.

Mendel's Experiments and the Laws of Inheritance
• A pedigree analysis of the dominant allele for ________ disease shows that:
§ Every affected person has an affected parent.
§ About half of the offspring of an affected person are also affected (assuming only one parent is affected).
§ The phenotype occurs equally in both sexes.

Alleles and Their Interactions
• Differences in alleles of genes consist of slight differences in the DNA sequence at the same locus, resulting in slightly different protein products.
• Some alleles are not simply dominant or recessive. There may be many alleles for a single character or a single allele may have multiple ________ effects.
Alleles and Their Interactions
• Different alleles exist because any gene is subject to mutation into a stable, heritable new form.
• Alleles can ________ randomly.
• The most common allele in the population is called the ________ type.
• Other alleles, often called ________ alleles, may produce a phenotype different from that of the wild-type allele.
• A genetic locus is considered ________ if the wild-type allele has a frequency of less than 99 percent in a population.
Alleles and Their Interactions
• A population can have more than two alleles for a given gene.
• In rabbits, coat color is determined by one gene with four different alleles. Five different colors result from the combinations of these alleles.
• Even if more than two alleles exist in a population, any given individual can have no more than ________ of them: one from the mother and one from the father.

Alleles and Their Interactions
• Heterozygotes may show an intermediate ________ which might seem to support the blending theory.
• The F2 progeny, however, demonstrate Mendelian genetics. For self-fertilizing F1 pink individuals the blending theory would predict all pink F2 progeny, whereas the F2 progeny actually have a phenotypic ratio of 1 red:2 pink:1 white.
• This mode of inheritance is called ________ dominance.

Alleles and Their Interactions
• In codominance, two different alleles for a gene are both expressed in the heterozygotes.
• In the human ABO blood group system the alleles for blood type are IA, IB, and IO.
§ Two IA, or IA and IO, results in type A.
§ Two IB, or IB and IO, results in type B.
§ Two IO results in type O.
§ IA and IB results in type AB. The alleles are called codominant.

Alleles and Their Interactions
• Pleiotropic alleles are single alleles that have more than one distinguishable phenotypic effect.
• An example is the coloration pattern and crossed eyes of Siamese cats, which are both caused by the same allele.
• These unrelated characters are caused by the same protein produced by the same allele.
Gene Interactions
• Epistasis occurs when the alleles of one gene cover up or alter the expression of alleles of another gene.
• An example is coat color in mice:
§ The B allele produces a banded pattern, called agouti. The b allele results in unbanded hairs.
§ The genotypes BB or Bb are agouti. The genotype bb is black.
§ Another locus determines if any coloration occurs. The genotypes AA and Aa have color and aa are albino.

Gene Interactions
• In another form of epistasis, two genes are mutually dependent: The expression of each depends on the alleles of the other,and they are called complementary genes.
• For example, two genes code for two different enzymes that are both required for purple pigment to be produced in a flower.
• The recessive alleles code for nonfunctional enzymes. If the plant is homozygous for ________ a or b, no purple pigment will form.
Gene Interactions
• When two homozygous strains of plants or animals are crossed, the offspring are often phenotypically stronger, larger, and more vigorous than either parent.
• This phenomenon is called hybrid ________ or heterosis. Hybridization is now a common agricultural practice used to increase production in plants.
• A hypothesis called overdominance proposes that the heterozygous condition in certain genes makes them superior to either homozygote.

Gene Interactions
• Genotype and environment interact to determine the phenotype of an organism.
• Variables such as light, temperature, and nutrition can affect the translation of genotype into phenotype.
• Penetrance is the proportion of individuals in a group with a given genotype that express the corresponding phenotype.
• The expressivity of the genotype is the degree to which it is expressed in an individual.
Gene Interactions
• Complex inherited characteristics are controlled by groups of several genes, called quantitative trait loci.
• Each allele intensifies or diminishes the phenotype.
• Variation is continuous, or quantitative, rather than qualitative.
• Variation is usually due to two factors: multiple genes with multiple alleles, and environmental influences on the expression of these genes.

Genes and Chromosomes
• How do we determine the ________ and ________ between the genes that are located on the same chromosome?
• In 1909, Thomas Hunt Morgan's lab began its pioneering studies in Drosophila melanogaster.
Genes and Chromosomes
• A ________ cross between flies that were hybrids for two alleles and flies that were recessive for both alleles did not give the expected results of 1:1:1:1.
• Instead, two of the four possible genotypes occurred at a higher frequency.
• These results make sense if the two loci are on the same chromosome, and thus their inheritance is linked.
• Absolute or total linkage of all loci is extremely rare.

Genes and Chromosomes
• Homologous chromosomes can exchange corresponding segments during prophase I of meiosis (crossing over).
• Genes that are close together tend to stay together.
• The farther apart on the same chromosome genes are, the more likely they are to separate during recombination.

Genes and Chromosomes
• The progeny resulting from crossing over appear in repeatable proportions, called the ________ frequency.
• Recombinant frequencies are greater for loci that are farther apart on the chromosomes because a chiasma is more likely to cut between genes that are far apart.

Genes and Chromosomes
• Recombinant frequencies for many pairs of linked genes can be used to create genetic maps showing the arrangement of genes along the chromosome.
• Scientists now measure distances between genes in ________ units.
• One map unit corresponds to a recombination frequency of 0.01. It also is referred to as a centimorgan (cM).

Sex Determination and Sex-Linked Inheritance
• Sex is determined in different ways in different species.
• In corn (and peas), which are monoecious, every ________ adult has both male and female reproductive structures.
• Other plants and most animals are dioecious: Some individuals produce only male gametes and others produce only female gametes.
Sex Determination and Sex-Linked Inheritance
• Honeybees: A fertilized egg (2n) gives rise to a female worker or queen bee, an unfertilized egg (n) gives rise to a male drone.
• Grasshoppers: Females have two X chromosomes, males have one. The sperm determines the sex of the zygote.
• Mammals: females have two X chromosomes, males have X and Y. Sex of offspring is determined by the sperm.
Sex Determination and Sex-Linked Inheritance
• Disorders can arise from abnormal sex chromosome constitutions.
• Turner syndrome is characterized by the XO condition and results in females who physically are slightly abnormal but mentally normal and ________ sterile.
• The XXY condition, Klinefelter syndrome, results in males who are taller than average and ________ sterile.
Sex Determination and Sex-Linked Inheritance
• Some XY individuals lacking a small portion of the Y chromosome are phenotypically female.
• Some XX individuals with a small piece of the Y chromosome are male.
• This fragment contains the maleness-determining gene, named SRY (for sex-determining region on the Y chromosome).
• The SRY gene codes for a functional protein. If this protein is present, testes develop; if not, ovaries develop.
Sex Determination and Sex-Linked Inheritance
• A gene on the X chromosome, DAX1, produces an anti-testis factor.
• The role of SRY gene product in a male is actually to inhibit the maleness inhibitor encoded by DAX1.
Sex Determination and Sex-Linked Inheritance
• In Drosophila the mechanism is different:
§ The males are XY and females XX, but the ratio of X chromosomes to the autosomal sets determines sex.
§ Two X chromosomes for each diploid set yield females.
§ One X for each diploid set yields males. (XO is sterile; XY is fertile).
Sex Determination and Sex-Linked Inheritance
• Birds, moths, and butterflies have XX males and XY females. These are called ZZ males and ZW females to help prevent confusion.
• In these organisms, the ________ rather than the ________ determines the sex of the offspring.
Sex Determination and Sex-Linked Inheritance
• The Y chromosome carries very few genes (about 20 are known), whereas the X carries a great variety of characters.
• Females with XX may be heterozygous for genes on the X chromosome.
• Males with XY have only one copy of a gene and are called hemizygous.
• This difference generates a special type of inheritance called sex-linked inheritance.

Sex Determination and Sex-Linked Inheritance
• Pedigree analysis of X-linked recessive phenotypes:
§ The phenotype appears much more often in males than in females.
§ A male with the mutation can pass it only to his daughters.
§ Daughters who receive one mutant X are heterozygous carriers.
§ The mutant phenotype can skip a generation if the mutation is passed from a male to his daughter and then to her son.

Non-Nuclear Inheritance
• Mitochondria, ________ and other plastids possess a small amount of DNA.
• Some of these genes are important for organelle assembly and function.
• Mitochondria and plastids are passed on by the mother only, as the egg contains abundant cytoplasm and organelles.
• A cell is highly polyploid for organelle genes.
• Organelle genes tend to mutate at a faster rate.

Animation 10.1 Independent Assortment of Alleles
Animation 10.2 Alleles That Do Not Sort Independently
Video 10-01