Swarnendu Ghosh 22MS170 History of Biology and Genetics Contents Prehistoric Evidences 3 Discovery Of Cell (1665) 4 Anton van Leeuwenhoek (1677) 5 Cell eory (1839) 6 eory Of Evolution (1859) 7 Mendelian Inheritance (1860s) 8 Discovery Of DNA as Genetic Material (1940) 9 Discovery of the structure of DNA (1953) 10 Human Genome Project (HGP) (1990-2003) 11 3 H O B A G “In biology, nothing is clear, everything is too complicated, everything is a mess, and just when you think you understand something, you peel off a layer and find deeper complications beneath." ­ Richard Dawkins Prehistoric Evidences • Selective breeding of both plants and animals has been practiced since early Prehistory ; key species such as wheat, rice, and dogs have been significantly different from their wild ancestors for millennia, and maize, which required especially large changes from Teosinte, its wild form, was selectively bred in Mesoamerica. Selective breeding was practiced by the Romans. • This Chihuahua mix and Great Dane shows the wide range of dog breed sizes created using selective breeding. Figure 1: Chihuahua mix and Great Dane • Selective breeding has transformed Teosinte (few fruitcases left) into modern maize rows of exposed kernels (right) Figure 2: Teosinte and Modern Maize H O B A 4 G Discovery Of Cell (1665) • The Cell was first discovered by Robert Hooke in 1665 , which can be found to be described in his book Micrographia . In this book, he gave 60 observations in detail of various objects under a coarse, compound microscope. Figure 3: Robert Hooke’s Compound Microscope • One observation was from very thin slices of bottle cork. Hooke discovered a multi­ tude of tiny pores that he named "cells" . This came from the Latin word Cella, meaning ‘a small room’ like monks lived in, and also Cellulae , which meant the six­sided cell of a honeycomb.. Figure 4: Drawing of the structure of cork by Robert Hooke that appeared in Micrographia • However, Hooke did not know their real structure or function. What Hooke had thought were cells, were actually empty cell walls of plant tissues. With microscopes during this time hav­ ing a low magnification, Hooke was unable to see that there were other internal components to the cells he was observing. Therefore, he did not think the “cellulae" were alive. His cell observations gave no indication of the nucleus and other organelles found in most living cells. H O B A 5 G Anton van Leeuwenhoek (1677) • Using single­lensed microscopes of his own design and make, Van Leeuwen­ hoek was the first to observe and to experiment with microbes, which he orig­ inally referred to as dierkens, diertgens or diertjes (Dutch for "small animals" [translated into English as animalcules, from Latin animalculum = “tiny ani­ mal” ]) Figure 5: A replica of a Microscope by Van Leeuwenhoek • He was the first to relatively determine their size. Most of the animalcules are now referred to as unicellular organ­ isms , although he observed multicellular organisms in pond water. He was also the first to document microscopic ob­ servations of muscle fibers, bacteria, spermatozoa, red blood cells, crystals in gouty tophi , and among the first to see blood flow in capillaries . Figure 6: A microscopic section of a one­year­old ash tree (Fraxi­ nus) wood, drawing made by Van Leeuwenhoek • Van Leeuwenhoek’s main discoveries are: 1. 2. 3. 4. 5. infusoria (protists in modern zoological classification), in 1674 bacteria, (e.g., large Selenomonads from the human mouth), in 1683 the vacuole of the cell spermatozoa, in 1677 the banded pattern of muscular fibers, in 1682 H O B A 6 G Cell Theory (1839) • In biology, cell theory is a scientific the­ ory first formulated in the mid­nineteenth century, that organisms are made up of cells , that they are the basic structural/ organizational unit of all organisms, and that all cells come from pre­existing cells. Cells are the basic unit of structure in all organisms and also the basic unit of repro­ duction . The three tenets of the cell theory are: • All organisms are composed of one or more cells. • The cell is the basic unit of structure and organization in organisms. • Cells arise from pre­existing cells. Figure 7: Matthias Jakob Schleiden (1804–1881) Credit for developing cell theory is usually given to two scientists: Theodor Schwann and Matthias Jakob Schleiden. • The generally accepted parts of modern cell theory include: 1. All known living things are made up of one or more cells. 2. All living cells arise from pre­existing cells by division. 3. The cell is the fundamental unit of structure and function in all living or­ ganisms. 4. The activity of an organism depends on the total activity of independent cells. 5. Energy flow (metabolism and biochem­ istry) occurs within cells. 6. Cells contain DNA which is found specifically in the chromosome and RNA found in the cell nucleus and cyto­ plasm. Figure 8: Theodor Schwann (1810– 1882) H O B A 7 G Theory Of Evolution (1859) • The theory of descent with modifica­ tion (or "theory of evolution by common descent") essentially postulates that all or­ ganisms have descended from common ancestors by a continuous process of branching . In other words, all life evolved from one kind of organism or from a few simple kinds, and each species arose in a single geographic location, from another species that preceded it in time. Evolutionists have marshaled substantial evidence for the the­ ory of descent with modification. That is, the "pattern of evolution" is documented by the fossil record, the distribution patterns of existing species, methods of dating fossils, and comparison of homologous structures , among others. Figure 9: Darwin, c. 1854, when he was preparing On the Origin of Species • The second theory of Darwin, the “theory of modification through natural selection” (or, simply, “theory of natural selection”), holds that natural selection is the directing or cre­ ative force of evolution. It recognizes that individuals in a population are not all the same (there are variations), some of these variations are heritable, all organisms produce more off­ spring than can survive, and those surviving to reproduce have the best fit to the environment, such that favorable traits will accumulate and unfavorable traits will decline and be lost— perhaps to the extent that a new species will be formed. • Darwin strived to establish the “fact of evolution," countering the view of most people and scientists at the time that the world was constant. Darwin also looked at speciation as a populational phenomenon; the population gradually changed until it became a new species. Thirdly, Darwin also insisted that evolution was entirely gradual, that evolution proceeded by means of the slow, steady accumulation of slight favorable variations. • Indeed, he stated in the Origin of Species: 1. “As natural selection acts solely by accumulating slight, successive, favourable variations, it can produce no great or sudden modifications; it can act only by very short and slow steps.” 2. “If it could be demonstrated that any complex organ existed, which could not possibly have been formed by numerous, successive, slight modifications, my theory would ab­ solutely break down.” H O B A 8 G Mendelian Inheritance (1860s) • The principles of Mendelian inheritance were named for and first derived by Gregor Johann Mendel , a nineteenth­ century Moravian monk who formulated his ideas after conducting simple hybridi­ sation experiments with pea plants (Pisum sativum) he had planted in the garden of his monastery. Mendel selected for the experiment the following characters of pea plants: 1. Form of the ripe seeds (round or roundish, surface shallow or wrinkled) 2. Colour of the seed–coat (white, gray, or brown, with or without violet spot­ ting) 3. Colour of the seeds and cotyledons (yellow or green) 4. Flower colour (white or violet­red) 5. Form of the ripe pods (simply inflated, not contracted, or constricted between the seeds and wrinkled) 6. Colour of the unripe pods (yellow or green) 7. Position of the flowers (axial or termi­ nal) 8. Length of the stem Figure 10: Gregor Mendel, the Mora­ vian Augustinian monk who founded the Modernenum science of Genetics Law Definition Law of dominance and uniformity Some alleles are dominant while others are reces­ sive; an organism with at least one dominant allele will display the effect of the dominant allele Law of segregation During gamete formation, the alleles for each gene segregate from each other so that each gamete car­ ries only one allele for each gene. Law of independent assortment Genes of different traits can segregate indepen­ dently during the formation of gametes. H O B A 9 G • 1. Characters are unitary, that is, they are discrete. There is no medium­sized plant or lienumght purple flower. 2. Genetic characteristics have alternate forms, each inherited from one of two parents. Today these are called alleles. 3. One allele is dominant over the other. The phenotype reflects the dominant al­ lele. 4. Gametes are created by random segre­ gation. Heterozygotic individuals pro­ duce gametes with an equal frequency of the two alleles. Figure 11: Myosotis: Colour and distribution of colours are inherited independently Discovery Of DNA as Genetic Material (1940) • The Avery–MacLeod–McCarty experi­ ment was an experimental demonstration, reported in 1944 by Oswald Avery, Colin MacLeod, and Maclyn McCarty, that DNA is the substance that causes bacterial transformation, in an era when it had been widely believed that it was proteins that served the function of carrying genetic in­ formation . It was the culmination of research in the 1930s and early 20th century to purify and characterize the "transforming prin­ ciple" responsible for the transformation phenomenon first described in Griffith's experiment of 1928: killed Streptococcus pneumoniae of the virulent strain type III­S, when injected along with living but non­virulent type II­R pneumococci, resulted in a deadly in­ fection of type III­S pneumococci. . Figure 12: Hyder, Avery, MacLeod and McCarty used strands of purified DNA such as this, precipitated from solutions of cell components, to per­ form bacterial transformations H O B A 10 G • The Hershey–Chase experiments were a series of experiments conducted in 1952 by Alfred Hershey and Martha Chase that helped to confirm that DNA is genetic material . While DNA had been known to biologists since 1869, many scientists still assumed at the time that proteins carried the in­ formation for inheritance because DNA appeared to be an inert molecule, and, since it is located in the nucleus, its role was considered to be phosphorus storage. Figure 13: Scientist Martha Chase and Alfred Hershey In their experiments, Hershey and Chase showed that when bacteriophages, which are composed of DNA and protein, in­ fect bacteria, their DNA enters the host bacterial cell, but most of their protein does not. Hershey and Chase and subsequent dis­ coveries all served to prove that DNA is the hereditary material . Discovery of the structure of DNA (1953) • Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid was the first article published to de­ scribe the discovery of the double helix structure of DNA , using X­ray diffraction and the mathematics of a helix transform. This article is often termed a "pearl" of science because it is brief and contains the answer to a fundamental mystery about living organisms. This mystery was the question of how it is possible that genetic instructions are held inside organisms and how they are passed from generation to generation. Figure 14: Diagramatic representation of the key structural features of the DNA double helix. H O B A 11 G • It is not always the case that the structure of a molecule is easy to relate to its func­ tion. What makes the structure of DNA so obviously related to its function was described modestly at the end of the arti­ cle: “It has not escaped our notice that the specific pairing we have postulated immediately suggests a possible copying mechanism for the genetic material". The specific pairing is a key feature of the Watson and Crick model of DNA, the pairing of nucleotide subunits. In DNA, the amount of guanine is equal to cyto­ sine and the amount of adenine is equal to thymine. After realizing the structural similarity of the A:T and C:G pairs, Watson and Crick soon produced their double helix model of DNA with the hydrogen bonds at the core of the helix providing a way to unzip the two complementary strands for easy repli­ cation: the last key requirement for a likely model of the genetic molecule. Figure 15: DNA replication. The two base­pair complementary chains of the DNA molecule allow replication of the genetic instructions. Human Genome Project (HGP) (1990­2003) • The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequenc­ ing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and ended on 2003. It remains the world’s largest collabo­ rative biological project. Figure 16: Logo of the Human Genome Project.