1. Copyright © 2013 Pearson Education, Inc. All rights reserved. Chapter 4 Genetics: From Genotype to Phenotype

2. Copyright © 2013 Pearson Education, Inc. All rights reserved. From Genotype to Phenotype Structural Genes Regulatory Genes

3. Copyright © 2013 Pearson Education, Inc. All rights reserved. From Genotype to Phenotype (cont’d) Genotype Phenotype

4. Copyright © 2013 Pearson Education, Inc. All rights reserved. From Genotype to Phenotype (cont’d) The ABO Blood Type System – Recessive, dominant and co-dominant alleles Obesity: A Complex Interaction – Genes, environment, and phenotype

5. Copyright © 2013 Pearson Education, Inc. All rights reserved. Mendelian Genetics Gregor Mendel (1822-1884) Experiments in particulate inheritance Discovered dichotomous variation Developed a series of postulates about inheritance

6. Gregor Mendel A monk living in what is now the Czech Republic Crossed different strains of purebred plants and studied their progeny. His work illustrates the basic rules of inheritance.

7. Copyright © 2013 Pearson Education, Inc. All rights reserved. Mendel’s Postulates Hereditary characteristics are controlled by particulate unit factors that exist in pairs in individual organisms When an individual has two different unit factors responsible for a characteristic, only one is expressed and is said to be dominant to the other, which is said to be recessive

8. Copyright © 2013 Pearson Education, Inc. All rights reserved. Mendel’s Postulates (cont’d) Mendel’s Law of Segregation: during the formation of gametes, the paired unit factors separate or segregate randomly so that each sex cell receives one or the other with equal likelihood Mendel’s Law of Independent Assortment: during gamete formation, segregating pairs of unit factors assort independently of each other

9. Hybrids Offspring of parents that differ from each other with regard to certain traits or certain aspects of genetic makeup; heterozygotes.

10. Traits Mendel Studied in Peas

11. Principle of Segregation Discrete units, or genes, occur in pairs because chromosomes occur in pairs. During gamete production, members of each gene pair separate so each gamete contains one member of a pair. During fertilization, the full number of chromosomes is restored and members of a gene or allele pairs are reunited.

12. Results When One Trait (Height) Is Considered at a Time

13. Dominance Dominant traits are governed by an allele that can be expressed in the presence of another, different allele. Dominant alleles prevent the expression of recessive alleles in heterozygotes.

14. Recessiveness Recessive traits are not expressed in heterozygotes. For a recessive allele to be expressed, there must be two copies of the allele.

15. Alleles Alternate forms of a gene. Alleles occur at the same locus on a pair of chromosomes and influence the same trait. However, because they are slightly different, their action may result in different expressions of that trait. The term is sometimes used synonymously with gene.

16. Locus The position on a chromosome where a given gene occurs. The term is sometimes used interchangeably with gene, but this usage is technically incorrect.

17. Phenotypes The observable or detectable physical characteristics of an organism; the detectable expressions of genotypes, frequently influenced by environment.

18. Principle of Independent Assortment The distribution of one pair of alleles into gametes does not influence the distribution of another pair. The genes controlling different traits are inherited independently of one another.

19. Random Assortment The chance distribution of chromosomes to daughter cells during meiosis; along with recombination, a source of genetic variation (but not new alleles) from meiosis.

20. Mendelian Traits Characteristics that are influenced by alleles at only one genetic locus. Examples include many blood types, such as ABO. Many genetic disorders, including sickle- cell anemia and Tay-Sachs disease, are also Mendelian traits.

21. Mendelian Inheritance in Humans Over 19,000 human traits are known to be inherited according to Mendelian principles (Online Mendelian Inheritance in Man www.ncbi.nlm.nih.gov/omim/) The human ABO blood system is an example of a simple Mendelian inheritance. The A and B alleles are dominant to the O allele. Neither the A or B allele are dominant to one another; they are codominant and both traits are expressed.

22. Codominance The expression of two alleles in heterozygotes. In this situation, neither allele is dominant or recessive; thus, both influence the phenotype.

23. What Dominance Doesn’t Mean Complete determinant of phenotype Better or stronger

24. Polygenic Inheritance Polygenic traits, or continuous traits, are governed by alleles at two or more loci, and each locus has some influence on the phenotype. Hair, eye and skin color are polygenic traits

25. Copyright © 2013 Pearson Education, Inc. All rights reserved. Linkage and Assortment Linkage: genes found on the same chromosome are said to be linked. The closer together two genes are, the greater the linkage Crossing Over: makes possible the independent assortment of linked genes

26. Copyright © 2013 Pearson Education, Inc. All rights reserved. X-Linked Disorders Genetic conditions that result from mutations to genes on the X chromosome. They are almost always expressed in males, who have only one copy of the X chromosome.

27. Copyright © 2013 Pearson Education, Inc. All rights reserved. Mendelian Genetics in Humans Over the past century, hundreds of human disorders and diseases have been cataloged, which can be explained in terms of Mendelian genetic transmission – Earlobe form – Phenylthiocarbamide (PTC) tasting or non- tasting

28. Copyright © 2013 Pearson Education, Inc. All rights reserved. Mendelian Genetics in Humans (cont’d) The Online Mendelian Inheritance in Man (OMIM) Web site: (http://www.ncbi.nlm.nih.gov/entrez/quer y.fcgi?db=OMIM ) provides an extraordinary database on genetic conditions in humans, from the most innocuous to the most lethal

29. Copyright © 2013 Pearson Education, Inc. All rights reserved. Genetics Beyond Mendel Qualitative variation Phenotypic variation that can be characterized as belonging to discrete, observable categories Quantitative variation Phenotypic variation that is characterized by the distribution of continuous variation within a population

30. Copyright © 2013 Pearson Education, Inc. All rights reserved. Genetics Beyond Mendel (cont’d) Polygenic Traits, the Phenotype, and the Environment – Heritability The proportion of total phenotypic variability observed for a given trait that can be ascribed to genetic factors

31. Copyright © 2013 Pearson Education, Inc. All rights reserved. Genetics Beyond Mendel (cont’d) Variability caused by genetics Variability caused by genetics + Variability caused by the environment

32. Copyright © 2013 Pearson Education, Inc. All rights reserved. Genetics Beyond Mendel (cont’d) Heritability and IQ Test Score Performance – IQ Test Score Performance Exhibit continuous variation in human populations, with a normal distribution Genetics is an important factor in producing the variation observed within populations Both genetics and environment effect IQ score variation

33. Copyright © 2013 Pearson Education, Inc. All rights reserved. Phenylketonuria: Illustrating Mendelian and Post-Mendelian Concepts Autosomal recessive condition that leads to the accumulation of large quantities of the amino acid phenylalanine, which causes mental retardation and other phenotypic abnormalities – Screening in newborns – Nutritional prognosis

34. Copyright © 2013 Pearson Education, Inc. All rights reserved. Genes and Environments Environment – From a gene’s perspective the “environment” is made up of other genes The genetic environment is just as critical to the production of phenotypes as any other kind of environment