Blueprint of Life Topic 6: Linking Mendel’s Findings to Modern Genetics Biology in Focus, HSC Course Glenda Childrawi, Margaret Robson and Stephanie Hollis DOT POINT(s) describe outcomes of monohybrid crosses involving simple dominance using Mendel’s explanations describe the aspects of the experimental techniques used by Mendel that led to his success Outline the reasons why the importance of Mendel’s work was not recognised until some time after it was published Introduction Monohybrid: a monohybrid is an individual that has contrasting factors for one characteristic (mono = one; hybrid = mixed or contrasting). Monohybrid inheritance is therefore the inheritance of a single pair of contrasting characteristics. Tt bitofearthfarm.wordpress.com Introduction The characteristics of an organism are determined by factors that occur in pairs. Only one member of a pair of factors can be represented in any gamete (segregation). Offspring inherit one factor from each parent. www.biography.com Introduction When two hybrids breed, statistically they will produce a ratio of three offspring showing the same trait as the parents (termed the dominant trait) to one offspring showing the contrasting recessive trait. www.biography.com Introduction Mendel called the traits that pass from one generation to the next ‘factors’, today we call them ‘genes’ and we call contrasting forms of the same gene ‘alleles’. For example, tall and short are alleles of the gene for height. However, chromosomes and genes were not discovered for another 35 years. www.csulb.edu Introduction A letter of the alphabet is used to represent each ‘factor’ (e.g. stem length in plants). The different forms are distinguished by using a capital letter for the dominant form (e.g. T ) and a lower case version of the same letter for the recessive form (e.g. t). Note: capital and lower case versions of the same letter signify dominant and recessive forms of the same factor. Explaining the Outcomes of Monohybrid Crosses This is how we would demonstrate how Monohybrid offspring are created when pure-breeding parents with contrasting characteristics are crossed. www.biography.com Explaining the Outcomes of Monohybrid Crosses All gametes from pure-bred tall will contain the factor ‘T’; similarly gametes from purebred short will all contain ‘t’. Each hybrid F1 individual inherits one factor from each parent (Tt). www.biography.com Explaining the Outcomes of Monohybrid Crosses The monohybrid plants of the first filial generation all resemble the parent possessing the dominant characteristic. The factor that is expressed is dominant in preference to the other factor (recessive), which is hidden. www.biography.com Explaining the Outcomes of Monohybrid Crosses When the hybrid plants produce gametes, the factors for tallness and shortness segregate or separate, with the result that one half of the gametes contain the factor for tallness (T) and the other for shortness (t). During fertilisation, the gametes fuse, each contributing one factor to the resulting F2 offspring. www.biography.com Explaining the Outcomes of Monohybrid Crosses In the plants of the second filial generation, the dominant characteristic appears three times more frequently than the recessive characteristic. That is, as a result of a monohybrid cross, the average ratio of dominant to recessive offspring observed is 3:1. www.biography.com Explaining the Outcomes of Monohybrid Crosses The cross of gametes from the F1 hybrids is complex, so it could also be shown more simply using a Punnett square. A Punnett square is the alternate way of representing Mendel’s monohybrid cross. www.biography.com Explaining the Outcomes of Monohybrid Crosses Mendel’s explanations as outlined in this figure can be applied to any monohybrid cross involving factors such as those he describes, i.e. factors that are inherited as ‘discrete units’ and not dependent on whether they come from the male or female parent. www.biography.com Mendel’s Laws Mendel’s model of inheritance is based of the following conditions: ■ Each characteristic or trait in an individual is controlled by a pair of inherited factors. ■ Mendel’s factors (characters or traits from parents) pass as unmodified ‘units’ (individual ‘Mendelian’ factors today are called ‘genes’) to successive generations according to set ratios. www.biography.com Mendel’s Laws ■ Individuals have two factors for each characteristic and they may have two factors the same (in pure-breeding individuals) or the two factors could differ (in hybrid individuals). ■ The trait that is expressed (appears) in the hybrid individuals is dominant, whereas the one that is hidden or masked is the recessive trait (Mendel’s first law— dominance). www.biography.com Mendel’s Laws ■ During gamete formation, the pair of factors for a trait segregate (separate) and each gamete receives only one factor for the trait (Mendel’s first law—segregation). ■ When the inheritance of more than one trait is studied, the pairs of factors for each trait separate independently of the other pairs of factors (Mendel’s second law— independent assortment). www.biography.com Mendel’s Laws Mendel’s ratios provided supporting evidence for his model and the establishment of his universal laws. www.biography.com Mendel’s Further Experiments Mendel carried out similar experiments involving monohybrid crosses for the other six characteristics that he studied in pea plants. He made predictions based on his model, which he tested with further crosses, all of which validated his previous conclusions. www.biography.com Mendel’s Further Experiments Mendel carried out more complex experiments involving dihybrid crosses to establish his second law—Mendel’s law of independent assortment. www.biography.com Mendel’s Further Experiments In Mendel’s second law, he established further ratios that show that when individuals with two or more pairs of unrelated, contrasting characteristics are crossed (e.g. tall plants with yellow pods × short plants with green pods), the different pairs of factors separate out independently of each other. That is, tall is not always inherited with yellow and short with green— some tall green offspring and some short yellow offspring will result. www.biography.com Mendel’s Experimental Techniques Mendel’s scientific experiments were well controlled, he tested only one variable at a time and the first-hand data that he gathered was quantitative, leading to his successful analysis of results. He drew valid conclusions, which eventually became known as Mendel’s laws. www.smithsonianmag.com Mendel’s Experimental Techniques His techniques were: ■ Valid and reliable: Mendel changed only one variable at a time and controlled all others. He used large sample sizes and repeated his experiments for different traits. He analysed his results mathematically to identify patterns and trends and then applied appropriate formulae to draw valid conclusions. www.exploringnature.org Mendel’s Experimental Techniques His techniques were: ■ Accurate: He reduced the possibility of experimental error— all experiments were conducted in a controlled environment (a greenhouse). Those crosses that relied on self-fertilisation (e.g. to establish pure-breeding lines) were conducted by keeping the plants isolated from any others, ensuring that no accidental crosspollination would occur. www.flickr.com Mendel’s Experimental Techniques In plants that required crosspollination, Mendel removed the stigma of some and the anthers of others and then manually transferred pollen from the anthers of one plant to the stigma of another, preventing errors arising from accidental self-pollination. www.biography.com Mendel Ignored Mendel published his work on genetic inheritance in garden peas in 1866 in the publication Proceedings at the Natural History Society of Britain. Despite its later significance and its originality, his work made little impression on anyone for almost 35 years. archive.fieldmuseum.org Mendel Ignored In 1900 his work was rediscovered and its value recognised independently by three different cytologists. They read his original paper, experimented and confirmed his findings and so publicised its significance to the biological world. www.bookdepository.co.uk Mendel Ignored So why was Mendel ignored for all of those years? There are several possibilities, but the truth is probably a combination of all of them: ■ Mendel’s work was too progressive—it appeared to be based on very little known background. At that time, very little was known about cells; chromosomes, mitosis and meiosis were unknown and studies of genetics did not exist. participle.wordpress.com Mendel Ignored ■ He presented his papers to a very small group of scientists (about 40) at two meetings (February and March 1865) of The Natural Science Society of Britain (founded by his colleagues)— a fairly low profile gathering of scientists in the province of Moravia. www.biography.com Mendel Ignored ■ His work differed quite radically from previous research and the scientists to whom he presented may not have understood it—they certainly did not recognise its significance. The accepted belief at the time was the ‘blending’ of characteristics in the offspring of contrasting pure-breeding parents (e.g. a tall parent crossed with a short one was thought to give offspring of medium height). Mendel’s use of mathematics and statistics to analyse results and make predictions in biology was also different to the norm of that time and may not have been understood. Mendel Ignored ■ He had no established reputation or recognition in the broader scientific world because he had done no prior significant research and had no interaction with other well-known scientists. As a result, his standing as a ‘scientist’ may have been doubted. He was also known to be fairly shy and may not have had the confidence or the desire to try to convince others of his findings. www.pcmag.com Activity/Homework -Students to complete Mendel's experimental Technique Worksheet