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Topic 3.4 14 Explain how a phenotype is the result of an interaction between genotype and the environment (e.g. animal hair colour, human height, monoamine oxidase A (MAOA) and cancers), but the data on the relative contributions of genes and environment is often difficult to interpret. 15 Explain how some phenotypes are affected by alleles at many loci (polygenic inheritance) as well as the environment (e.g. height) and how this can give rise to phenotypes that show continuous variation. What is a phenotype? • The characteristics of an organism. • What determines the phenotype? Genotype and environment What is meant by the term gene? • A length of DNA which codes for a certain protein • The same gene is always found at the same location on the same chromosome (same locus) and on its homologous pair Read page 134 What is discontinuous variation? • distinct groups: Give examples • blood type • Sex (gender), • tongue rolling, • attached ear lobes Cause? • one gene at a single locus What is continuous variation: • Many possibilities within a range, no distinct groups. • Bell-shaped curve: normal distribution Examples? • height in humans, • length of feet, • weight Cause? • several genes at different loci and environmental influences. Read page 135-136 and do the following: • Define: locus, allele, polygenic, susceptibility, multi-factorial • Complete questions 3.18 and 3.19. Locus: • specific location of a gene on a chromosome. Allele: • one form of a gene Polygenic inheritance: • An inheritable characteristic that is controlled by the interaction of several alleles at many loci (seveal genes). Susceptibility to a condition: Inheriting a gene making you more likely to get to a certain condition- environmental factors will increase or decrease this chanceMulti-factorial: • Conditions where several genes and environmental factors are interacting. Human height Hair colour MAOA (monoamine oxidase A) Cancer It has changed over the last two centuries. People in the UK are on average 8cm taller than in 1850. What is the evidence that the environment plays a role? • Improved nutrition Increased protein in diet leading to more muscle and bone growth leading to increased average height. Increased Calcium in diet leading to more bone growth • Improved health (less infectious diseases, cleaner water, increased use of vaccinations, antibiotics…etc) leading to more energy for growth. • More energy available for growth End of child labour Better insulation- It has changed over the last two centuries. People in the UK are on average 8cm taller than in 1850. What evidence is there from the graph below to suggest that height is affected by genotype as well as the environment. • Maximum height potential It has changed over the last two centuries. People in the UK are on average 8cm taller than in 1850. How could the gene pool (collection of all alleles in a population) change? Note: in this time period there can be no significant change due to evolution. • Migration- emigration or immigration from or to countries where more people are on average taller/shorter Activity 3.16 Many Genes can affect a single characteristic Activity 3.17 Are we still getting taller? Collect data for homework Analyse data using laptops Describe the shape of the graph. What does this show about the type of variation? If the shape is not what you expected explain. What is meant by standard deviation? How can calculating it for a set of data help us? Define these words Melanin: • A dark pigment (light absorbing chemical) Melanocytes: • Cells that make melanin. These cells found in the skin and in hair follicles. Melanocyte stimulating hormone (MSH) • regulates the production of melanin MSH receptors: • MSH bind with them to activate melanin producing genes in the melanocytes Melanosomes: • Organelles, melanocytes place melanin into them. They transfer the melanin to nearby skin or hair follicle cells Genetic component? • Different alleles for different number of MSH receptors- more receptors results in darker colour Environmental factors? • UV light increases the amount of MSH and number of MSH receptors in skin • UV light destroys the melanin in hair Arctic Foxes- Read pages 138 and 139 What happens in summer? • In summer white fur grows under the brown fur because fewer MSH receptors are produced • Therefore, MSH has less effect • Less melanin in hair results in (almost)white fur. What happens in autumn? • In autumn the dark fur is shed and the white fur can be seen Suggest what the environmental factor could be. What is the role of genes in this? Answer questions 3.21, 3.22 Describe the fur of a himalayan rabbit. Write down the word equation for the reaction producing melanin. What is the environmental factor? What happens when it is at normal body temperature? Below normal body temperature? What is the role of genes? Answer Q3.24 Monoamine oxidase A: What is it? • This enzyme speeds up the breakdown of neurotransmitters and has been linked to dealing with stress What is the link between low levels of this enzyme and aggressive behaviour in humans? • Studies have shown no/little link between low levels and aggressive behaviour • However, low levels combined with maltreatment of children has been linked to aggressive behaviour/violent crime What is the environmental factor? What it the role of the genotype? Read page 139-141 What is a tumour? • A mass undifferentiated of cells. The cells multiply faster than they die. What causes a tumour to form? • Damage to DNA. Carcinogens (e.g. in cigarette smoke) or ionising radiation, like UV rays/X-Rays, can increase the chance of DNA getting damaged (mutating) Tumours more likely to develop in the lungs, bowel, skin, bone marrow: why? • In these areas there is more mitosis and more chance of mutation What are the steps of the cell cycle? How is the cell cycle controlled? • G1, S, G2, Mitosis (pages 114-117) • The cell cycle is controlled by regulatory proteins. • When these proteins are present they either stimulate or inhibit the cell cycle from progressing. What are oncogenes? • They are genes which code for these regulatory proteinsones which stimulate the progression from one stage to the next of the cell cycle. What happens when there are mutations in oncogenes? • Cell cycle occurs uncontrolled and without stopping. What are tumour suppressor genes? • They code for proteins which stop the cell from moving from one stage to the next in the cell cycle. What happens when there are mutations in tumour suppressor genes? • The cell cycle continues (cell moves from one stage to the next) without stopping. Give an example of a gene which a person can inherit which makes them susceptible (predisposes) them to cancer? Describe the function of the protein which this gene codes for. How can you reduce your risk of getting cancer? • don’t smoke • avoid excessive exposure to UV light, X-rays, other ionising radiation • eat a diet high in antioxidants 1. 2. 3. 4. 5. Describe the relationship between UV light and the production of melanin in human skin cells. (3) Explain how differential gene expression could result in the specialisation of cells. (3) Describe the distribution of colour in a Siamese cat. (2) Suggest an explanation for the distribution of dark-coloured fur in a Siamese cat. (3) Define the following terms1. Polygenic (1) 2. Allele (1) 3. Multifactorial (1) 4. Phenotype (2) 1. UV light increases the amount of MSH/ MSH receptors; In melanocytes; Causing them to produce more melanin (3) 2. 3. Black tips; white body (2) 4. idea that ears etc., have a lower temperature (than the rest of body); (therefore) enzyme is {active / not denatured / eq}; pigment produced / eq; no pigment produced in other parts because enzyme is {inactive / denatured} / eq; max 3 5. 1. When a number of genes code for one characteristic 2. different form of a gene 3. Conditions where several genes and the environment are involved in its development 4. characteristics of an organism; can be affected by the genotype and/or the environment (5)