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Genetics: Mendel and Beyond

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1 Genetics: Mendel and Beyond

2 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 chromosomes and meiosis provided an explanation for Mendel’s theory.

3 Mendel’s Experiments and the Laws of Inheritance
Mendel selected varieties of peas that could be studied for their heritable 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.

4 Mendel’s Experiments and the Laws of Inheritance
The progeny from the cross of the P parents are called the first filial 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.

5 Mendel’s Experiments and the Laws of Inheritance
A monohybrid cross involves one character (seed shape) and different traits (round or wrinkled). When crossing P1 pure-breeding round plants with wrinkled plants, the F1 seeds were all round; 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.

6 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.

7 Figure 10. 3 Mendel’s Experiment 1 (Part 1)

8 Figure 10. 3 Mendel’s Experiment 1 (Part 2)

9 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 pairs and separate during gamete formation. Each pea has two units of inheritance for each character. During production of gametes, only one pair for a given character passes to the gamete. When fertilization occurs, the zygote gets one unit from each parent, restoring the pair.

10 Mendel’s Experiments and the Laws of Inheritance
Mendel’s units of inheritance are now called genes; different forms of a gene are called alleles. True-breeding individuals have two copies of the same allele (i.e., they are homozygous). Some smooth-seeded plants are Ss or heterozygous, although they will not be true- breeding. The physical appearance of an organism is its phenotype; the actual composition of the organism’s alleles for a gene is its genotype.

11 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. The can be determined by means of a Punnett square.

12 Figure 10.4 Mendel’s Explanation of Experiment 1

13 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. Today, the known mechanism of chromosome separation in meiosis I explains his law of segregation.

14 Figure 10.5 Meiosis Accounts for the Segregation of Alleles (Part 1)

15 Figure 10.5 Meiosis Accounts for the Segregation of Alleles (Part 2)

16 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.

17 Figure 10.7 Independent Assortment

18 Mendel’s Experiments and the Laws of Inheritance
Because humans cannot be studied using planned crosses, human geneticists rely on pedigrees, 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.

19 Figure 10.10 Pedigree Analysis and Dominant Inheritance

20 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 phenotypic effects.

21 Alleles and Their Interactions
A population can have more than two alleles for a given gene. Even if more than two alleles exist in a population, any given individual can have no more than two of them: one from the mother and one from the father.

22 Alleles and Their Interactions
Heterozygotes may show an intermediate phenotype 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 incomplete dominance.

23 Figure 10.13 Incomplete Dominance Follows Mendel’s Laws

24 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 A, B, and O. AA, or AO, results in type A. BB, or BO, results in type B. OO results in type O (O is completely recessive). AB results in type AB. The alleles are called codominant.

25 Figure 10.14 ABO Blood Reactions Are Important in Transfusions

26 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.

27 Gene Interactions Complex inherited characteristics are controlled by groups of several genes. For example, height. 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.

28 Figure 10.17 Quantitative Variation

29 Genes and Chromosomes Homologous chromosomes can exchange corresponding segments during prophase I of meiosis (crossing over).

30 Figure 10.19 Crossing Over Results in Genetic Recombination

31 Sex Determination and Sex-Linked Inheritance
In mammals, sex is determined by which sex chromosomes you possess. The sex chromosomes are labeled as X and Y. Females have two X chromosomes. Males have X and Y. Females can only produce one type of egg – one containing a X. Thus, sex of offspring is determined by the sperm – if a sperm containing an X chromosomes fertilizes the egg = female; if sperm contains a Y = male.

32 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. This difference generates a special type of inheritance called sex-linked inheritance.

33 Figure 10.23 Eye Color Is a Sex-Linked Trait in Drosophila

34 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.

35 Color blindness is an example of an X-linked recessive trait.
Figure Red-Green Color Blindness Is a Sex-Linked Trait in Humans Color blindness is an example of an X-linked recessive trait.

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