Outline and Chapter notes to accompany chapter 2 GENES, CHROMOSOMES, AND DNA Jan., 2001 A. MENDEL OBSERVED PHENOTYPES AND FORMED HYPOTHESES INHERITANCE FOLLOWS THE SAME LAWS IN MOST ORGANISMS. THE BASIC LAWS OF GENETICS were first established by Gregor Mendel in 1865. Mendel used peas which could either be crossed or self-fertilized Earlier observers looked at many traits at once-- Mendel focused on one at a time. Earlier observers used parents of unknown hereditary background. Mendel bred PURE LINES first until they bred true. Earlier observers only observed a single generation at a time-- Mendel extended his observations over several generations. Earlier observers failed to quantify their results-- Mendel counted offspring and established ratios. TERMINOLOGY: PHENOTYPE = appearance ("pheno-"=visible, as in "phenomenon"); GENOTYPE = genetic make-up, not always visible, but detectable by performing crosses ALLELES = variants of a gene. HOMOZYGOUS = having two alleles that are alike; HETEROZYGOUS = having two unlike alleles DOMINANT = showing a phenotypic effect in heterozygous form RECESSIVE = showing a phenotypic effect only when homozygous MENDEL'S FINDINGS: Crosses between PURE LINES produce offspring of one (dominant) phenotype only Crossing of first generation plants produces 3:1 ratio of dominants to recessives in the second generation (F2). Explanation of 3:1 ratio in terms of PARTICULATE INHERITANCE. "LAW OF SEGREGATION" = dominant and recessive alleles of heterozygote separate from one another during meiosis "LAW OF INDEPENDENT ASSORTMENT" for 2 genes at a time: genes at different locations are chosen (sampled) independently of one another during gamete formation. B. THE CHROMOSOMAL BASIS OF INHERITANCE EXPLAINS MENDEL'S HYPOTHESES: Genes are located on chromosomes within the nucleus of each cell. Behavior of genes follows behavior of chromosomes. (This includes an exception to independent assortment in the case of "linked" genes on the same chromosome.) MITOSIS: Normal cell division is called MITOSIS; chromosome number doubles and is then halved, so the resulting chromosome number remains unchanged in the two daughter cells. MEIOSIS: Most animal and plant cells are DIPLOID (their chromosomes occur in pairs); the major exceptions are the egg and sperm cells, called GAMETES; gametes are always HAPLOID (their chromosomes occur as singletons). The cell division that produces haploid cells (such as gametes) is called MEIOSIS. During meiosis, the chromosomes double once and divide twice, resulting in four haploid cells that each have half of the original chromosome number, including one chromosome from each pair. The separation of chromosome pairs during meiosis is responsible for segregation. GENE LINKAGE: The independent separation of different pairs of chromosomes is responsible for independent assortment. Genes on the same chromosome segregate together (LINKAGE), unless a chromosomal cross-over brings about their recombination. CONFIRMATION OF THE CHROMOSOMAL THEORY: Experiments have shown that the inheritance of genes parallels the inheritance of visible chromosomes. When chromosomes have visible markers at opposite ends, recombination of genes (as observed in crosses) is always accompanied by the rearrangement of the visible chromosome markers. recombination of C. THE MOLECULAR BASIS OF INHERITANCE FURTHER EXPLAINS MENDEL'S HYPOTHESES. DNA AND GENETIC TRANSFORMATION: Griffith's experiment established the phenomenon of BACTERIAL TRANSFORMATION: dead bacteria of a virulent strain called IIIS were able to transform the nonvirulent strain IIR into IIIS. Avery, MacLeod & McCarty established that bacterial transformation required DNA. Hershey & Chase demonstrated that BACTERIOPHAGE viruses reproduced by using genetic material made of DNA. The viruses injected this DNA, but not their protein, into host bacteria during viral reproduction. THE CHEMICAL COMPOSITION OF DNA: DNA is composed of phosphate groups, deoxyribose sugar, and nitrogenous bases of four types (abbreviated A, G, C, and T). Chargaff discovered that the amount of adenine and thymine were equal (A=T) in DNA from a given species, as were the amounts of guanine and cytosine (G=C). THE THREE-DIMENSIONAL STRUCTURE OF DNA: Rosalind Franklin used X-RAY DIFFRACTION to study the 3-D structure of DNA Watson & Crick described double-helix model of DNA structure: Building blocks: phosphate groups, deoxyribose sugar, and nitrogen-containing bases (A = adenine, G = guanine, C = cytosine, and T = thymine) One phosphate + one deoxyribose sugar + one base = a NUCLEOTIDE. Nucleotides are connected by alternating chain of phosphates & sugars. There are two strands of nucleotides, arranged in opposite directions. Base-pairing of (A with T) and (C with G) holds the two strands together. The two strands are twisted to form a DOUBLE HELIX. A gene is a sequence of bases in DNA. The location of the gene on the DNA is called its LOCUS. DNA REPLICATION: DNA is made from DNA, using one strand as a TEMPLATE (pattern) to synthesize the missing strand one base at a time. TRANSCRIPTION: DNA unwinds in one area, then part of one DNA strand can be used as a template to synthesize a complementary strand of RNA, still keeping the message in the language of a series of nucleotides. TRANSLATION (changing nucleotide language into protein language): Within a ribosome, MESSENGER RNA comes together with a TRANSFER RNA molecule linked to an amino acid. A three-base sequence (CODON) on the messenger RNA matches a complementary sequence (ANTICODON) on the transfer RNA. The codon thus determines which transfer RNA molecule is used, and thus which amino acid is the next one to be inserted in a growing polypeptide strand. MUTATIONS: Mutations are heritable changes in genes or chromosomes. Most mutations are SINGLE-GENE MUTATIONS that arise from errors in replication or from unrepaired damage to DNA molecules. NOTE: Some geneticists restrict the term "mutation" to single- gene mutations only. Single-gene mutations include: base-pair substitutions frame-shift mutations (additions & deletions) CHROMOSOMAL ABERRATIONS, which arise from errors in meiosis, include: changes in chromosome number (including polyploidy in plants) duplications: a piece of a chromosome appears twice inversions: a piece of a chromosome turns 180 degrees deletions: a piece of a chromosome is missing translocations: a piece of a chromosome attaches to another chromosome ---------------------------------- Jan., 2001