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Genetics: An Introduction
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A Question of Taste — Learn to determine if the ability to taste a chemical called phenylthiocarbamide (PTC) is inherited.
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Analyzing evolutionary processes. Analyzing molecular features of genes and regulation of gene expression. as well as to specific applications such as medical genetics. b. Boyer and Cohen’s first cloning (1973) of a recombinant DNA molecule. Genetic material of both eukaryotes and prokaryotes is DNA (deoxyribonucleic acid). 4. Powerful new techniques in genetics raise important ethical. genetics has become an important biological tool. Determining products of genes. b. 2. Recent important milestones in genetics include: a. Humans have long understood that offspring tend to resemble parents. Analyzing heredity in populations. is its genome. Basic Concepts of Genetics 1. and Chromosomes 1.Detailed Lecture Outline Classical and Modern Genetics 1. 2. In the last century. a phosphate group. f. or the DNA or RNA sequence of a virus. using defined crosses of pea plants. DNA has two chains. d. The principles of heredity were first explained by Mendel in the mid-nineteenth century. Identifying genes that control steps in processes. Invention by Mullis (1986) of the polymerase chain reaction (PCR) to amplify specific DNA sequences. Genes. . 5. An organism’s full DNA sequence. and social issues that will need thoughtful solutions. Mapping genes. and have selectively bred animals and plants for many centuries. The concepts and processes of genetics summarized here are intended as a review from the introductory biology course. c. The chains form a double helix (Figure 1. but some have RNA (ribonucleic acid) genomes instead. 3. e. DNA. Completion of genomic sequencing for an increasing number of organisms has spawned the new field of genomics. Many viruses also have DNA.1). 3. using mutants to gain an understanding of specific processes. Berg’s construction (1972) of the first recombinant DNA molecule in vitro. Knowledge of individual genes and their regulation will be important to basic biological research. c. each made of nucleotides composed of a deoxyribose sugar. and a base. legal. This work has included: a.
U (uracil) replaces T. a. After making genetic crosses. All observable traits of an organism are its phenotype.g. and that alternative versions of the genes (alleles) exist (e. 5. The progeny (F1) have yellow seeds. Transmission of Genetic Information 1.. The two factors for a particular trait assort independently of factors controlling other traits (Mendel’s second law.. b. and T (thymine). and a heterozygous genotype (Yy). He concluded that each organism contains two copies of each gene. Yy) is heterozygous. Eukaryotes generally have: i. b. 4. b. he counted the appearance of traits in the progeny and analyzed the results mathematically.g. ii. a. one from each parent. Prokaryotes generally have one circular chromosome. Transmission of traits from parents to offspring was addressed in Mendel’s work with peas. The genotype interacts with both internal and external environments of the organism to produce the phenotype. An organism that has the same alleles for a trait is homozygous (e. He selected strains differing in defined traits (e. pea seed color alleles are yellow. In RNA. YY or yy).2). smooth or wrinkled seeds. ii. c.g. the principle of independent assortment). Genetic material in cells is organized into chromosomes (literally “colored body” because it is visible only after being stained with biological dyes). True-breeding plants with yellow seeds (YY) are crossed with truebreeding plants with green seeds (yy).g. . Mendel considered the factors controlling the phenotypes he observed in peas. with different species having different numbers of chromosomes. c. Linear chromosomes in their nuclei.g. and green. 3. There are four bases in DNA: A (adenine). He deduced that the factors (now called genes) segregate randomly into gametes (Mendel’s first law. y). purple or white flowers) (Figure 1. c. the principle of segregation). b. The sequence of bases determines the genetic information.. The complete genetic makeup of an organism is its genotype. G (guanine). An example is seed color in peas: i. Genes are specific sequences of nucleotides that pass traits from parents to offspring. a. C (cytosine). mitochondria and chloroplasts) that is usually a circular molecule..4. DNA in organelles (e. a. 2.. Y. An organism with two different alleles (e.
6. Translation converts the information in mRNA into the amino acid sequence of a protein using ribosomes. and many are eukaryote-specific. Only some of the genes in a cell are active at any given time. Jacob and Monod (1961) proposed the operon model to explain prokaryotic gene regulation. . c. 3. Production of proteins requires two steps: a. but it has been shown to involve an array of controlling signals. a. 4. and some genes of the eukaryotic nematode Caenorhabditis elegans. In 1902. There are four main classes of RNA: i. which specify the amino acid sequence of a protein by using codons of the genetic code. Ribosomal RNAs (rRNA). iv. the material basis of gene segregation was shown. b. Much about their function remains unknown. When the progeny self-pollinate. Regulation of gene expression is not completely understood.4). Expression of Genetic Information 1.3). with genotypic ratios of 1 YY : 2 Yy : 1 yy. Small nuclear RNAs (snRNA). All three are necessary for the process of evolution.iii. In 1884. Messenger RNAs (mRNA). Beadle and Tatum (1941) showed in the fungus Neurospora crassa that there is a relationship between a gene and each enzyme needed in a biochemical pathway. Sutton and Boveri proposed that genes are on chromosomes and their movement explainable by the segregation of chromosomes during meiosis. Only those that escape the cell’s DNA repair mechanisms are fixed in the genome and passed to the next generation. Eukaryotic genetic switches usually are different and more complex. a. 5. and selection. Sources of Genetic Variation 1. recombination. since not all proteins are enzymes and some require more than one polypeptide). Genetic differences between organisms arise from mutations. showing that a genetic switch is used to control production of the enzymes needed to metabolize lactose. Mutations (heritable changes in the genetic material) may be spontaneous or induced. and activity also varies by tissue type and developmental stage. Transcription involves an enzyme (RNA polymerase) making an RNA copy of part of one DNA strand (Figure 1. Similar systems control many genes in bacteria and their viruses. b. 2. found only in eukaryotes. ii. iii. resulting in the one gene – one enzyme hypothesis (now modified to one gene – one polypeptide. Transfer RNAs (tRNA). large complexes of rRNAs and proteins (Figure 1. the F2 contains 3 yellow : 1 green. Gene expression is the process by which a gene produces its product and the product carries out its function.
Research is unpredictable. molecular genetics. In prokaryotes. b. Recombination (exchange of genetic material) is produced by enzymes that cut and rejoin DNA molecules. recombination via crossing-over is common in meiosis and occurs more rarely in mitosis. Different genotypes contribute alleles to the next generation in proportion to their selective advantage. Population genetics studies heredity in groups for traits determined by one or a few genes. Geneticists and Genetics Research 1. Basic research is done to understand fundamental phenomena. c. typically using the hypothetico-deductive method of investigation.) The Subdisciplines of Genetics 1. (An example of unpredictability is McClintock’s work with corn kernel color. Basic and Applied Research 1. finally. Forming hypotheses to explain the observations.b. In eukaryotes. resulting in new observations and another cycle of research. Quantitative genetics studies group heredity for traits determined by many genes simultaneously. Historically. Enormous amounts of genetic research have been done. d. Genetics is often divided into four subdisciplines: a. Testing the predictions. and. b. c. quantitative. c. 3. 2. which led to the discovery of transposons. Most of the information in this book comes . ii. Molecular genetics deals with the molecular structure and function of genes. transmission genetics developed first. recombination may occur when two DNA molecules with similar sequences become aligned. Making observations. and with genetic recombination. which consists of: a. Transmission (classical) genetics deals with movement of genes and genetic traits from parents to offspring. 2. Its main consequence is to change the frequency of genes affecting traits under selection. which helps motivate scientists by making the work exciting. Selection (favoring particular combinations of genes in a given environment) was described by Darwin. d. Making experimental predictions based on the hypotheses. regardless of any usefulness for immediate applications. i. followed by population. and are relevant to all fields of biology. Genes influence all aspects of an organism’s life.
Genetic Databases and Maps 1. criminal cases. c. and is important in agriculture and medicine. Recombinant DNA technology is an example of basic research that has led to many applications. and more milk or eggs. PubMed searches literature citations and abstracts and links to electronic versions of journals. OMIM (Online Mendelian Inheritance in Man) is a database of human genes and genetic disorders. b. Genetic maps can show whether genes with related functions are on the same chromosome. Applied research has the goal of an immediate application. d. Entrez is a system for searching linked databases. Diagnostic tests for many human diseases. b. and anthropological studies. e. The results of basic research are used to fuel basic and applied research.nih. Genetic databases have become more sophisticated as computer analysis tools have been developed. Both rely on an accumulated body of information. Desirable qualities for an experimental organism include: a. and genetic distances between them calculated from recombination in experimental crosses. GenBank is an annotated DNA sequence database. A well-known genetic history. 2. shelf life. Medicines including antibiotics. A large number of offspring from each mating. c. Many organisms are used in genetic research. Organisms for Genetics Research 1.6) have been constructed since 1902. clotting factors. Genetic maps (Figure 1. including: a. The National Center for Biotechnology Information (NCBI) has an important website for genetics (http://www. Plant breeding to improve disease resistance. 3. e. 2. b. which includes the following search tools: a. BLAST compares nucleotide or protein sequences. Basic research and applied research are closely related and use similar techniques.ncbi. as well as diagnostic tests and treatments for diseases. Forensics techniques that are used in paternity testing. and flavor. hormones. and human insulin. A short life cycle so that generations can be studied in a relatively short time.from basic research.nlm. .gov). d. Animal breeding to develop livestock that produce leaner meat. c. producing improved livestock and crop plants. They show the sites of genes (loci) on chromosomes. and are useful in cloning and genome sequencing.
8) are: a. The cytoplasm contains many materials and organelles. Drosophila melanogaster (fruit fly). Zea mays (corn). c. a pair of centrioles is associated with the centrosome region of the cytoplasm where spindle fibers are organized in mitosis or meiosis. Centrioles (basal bodies) are in cytoplasm of nearly all animals. 3. Caenorhabditis elegans (nematode). Ease of growing and handling the organism. iii. In animals. Saccharomyces cerevisiae (a unicellular baking yeast). Homo sapiens (human). Arabidopsis thaliana (a small weed in the mustard family). but not in most plants. b. Neurospora crassa (orange bread mold). d. Tetrahymena (unicellular protozoa). Gallus (chicken). The nuclear envelope is two layers of semipermeable membrane with pores that allow movement of materials (e. Generalized features of higher plant and animal cells (Figure 1. b. ER with ribosomes attached collects proteins that will be secreted from the cell or localized to an organelle. 5.d. c. Plant cells have a rigid cell wall.. Mus musculus (mouse). a discrete structure bounded by a nuclear envelope (absent in prokaryotes). Ribosomes synthesize proteins. c. e. In both. either free in the cytoplasm or attached to the cytoplasmic side of the ER. the nucleus contains DNA complexed with proteins and organized into chromosomes. Eukaryotes used in much of current genetic research (Figure 1. Eukaryotes can be unicellular or multicellular. Chlamydomonas reinhardtii (unicellular green alga). b. g. 2. Eukaryotes keep their DNA in the nucleus. d. e. The endoplasmic reticulum (ER) is a double membrane system that runs through the cell. e.g.7) include: a. ribosomes) between nucleoplasm and cytoplasm. The following are important in genetics: i. 6. Marked genetic variation within the population. A plasma membrane encloses the cytoplasm in both. 4. e. Paramecium (unicellular protozoa). Additional eukaryotes that have made important contributions in genetics include: a. f. f. Pisum sativum (garden pea). ii. d. .
All bacteria are prokaryotes. Epulopiscium fishelsoni. deep ocean). Archaebacteria. common organisms found in other organisms and in the environment. One species. a million times larger than E. a.g. The organelle has a triple-membrane layer. E. hot springs. Chloroplasts are photosynthetic structures that occur in plants.iv. b. and includes a genome encoding some of the genes needed for organelle functions. They contain their own DNA encoding some mitochondrial proteins.9). coli is in this group. coli. and tRNAs. 7. is 60× 800mm. and the type most often studied. Bacteria generally range in size from 100nm to 10× 60mm. Bacteria are divided into two distantly related groups: i. Key Terms alleles applied research base basic research bivalent cell cycle cell division chromosomes codon deoxyribonucleic acid (DNA) diploid eukaryotes gene expression genes genetic code genetic maps genetic recombination genetics genome genotype haploid heterozygous homozygous hypothetico-deductive method of investigation locus . v. with their shape maintained by a rigid cell wall outside the cell membrane (Figure 1. salt or methane marshes.. Eubacteria. ii. and most are single-celled. normally found in extreme environments (e. Mitochondria are large organelles surrounded by double membranes that play a key role in energy processing for the cell. rRNAs. Prokaryotes do not have a nuclear envelope.
meiosis messenger RNA (mRNA) molecular genetics mutation nucleolus nucleotides nucleus one gene – one enzyme hypothesis operon phenotype pistils population genetics quantitative genetics recombinant chromosome recombinant DNA technology recombination ribonucleic acid ribosomal RNA (rRNA) ribosomes RNA RNA polymerase selection small nuclear RNA (snRNA) stamens transmission genetics transcription transfer RNA (tRNA) translation iActivity A Question of Taste .
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