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Mutation Detection: Answers

Mutation Detection: Answers. Original DNA sequence GGC [TAC GAGCTTCGAAATTTGCCG ATC] CCA mRNA:AUG – CUC – GAA – GCU – UUA – AAC – GGC – UAG A.A.s MET – LEU – GLU – ALA - LEU – ASP – GLY – STOP

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Mutation Detection: Answers

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  1. Mutation Detection: Answers • Original DNA sequence • GGC[TACGAGCTTCGAAATTTGCCGATC]CCA • mRNA:AUG – CUC – GAA – GCU – UUA – AAC – GGC – UAG • A.A.s MET – LEU – GLU – ALA - LEU – ASP – GLY – STOP • Identify the reading frame by transcribing the DNA & identifying the start codon. Then group the codons in 3’s until you reach the stop codon. • Mutant one: FRAMESHIFTthe original reading frame is affectedGGCTACGAGCTTCGAAAATTTGCCGATCCCA… Homework • Mutant 2: NONSENSEan internal stop codon is inserted GGCTACGAGCTTCGAACTTTGCCGATCCCA • Mutant 3: MISSENSE a new amino acid is made with the mutationGGCTACGAGCCTCGAAATTTGCCGATCCCA • Mutant 4: SILENT the gene isn’t affected as GAC & GAG both code for the same amino acidGGCTACGACCTTCGAAATTTGCCGATCCCA UUU – AAA – CGG – CUA – GGG  MET – LEU – GLU – ALA – PHE – LYS – ARG – LEU – GLY MET – LEU – GLU – ALA – STOP MET – LEU – GLU – ALA – GLU  GLY MET – LEU – GLU – ALA – LEU  LEU

  2. Intro • You all learned in MITOSIS that cells reproduce through the process of cell division. • This includes mitosis & cytokinesis • The process creates 2 identical daughter cells, also called clones for the reasons of replacing, growing the # of, and repairing our body’s cells. • In this lesson you are going to learn the processes by which organisms reproduce. • Next you’ll learn how gametes form… through meiosis.

  3. Common Sense • “The chief function of the reproductive system is to ensure survival of the species.” • http://www.daviddarling.info/encyclopedia/R/reproductive_system.html • You all should know by now that, for humans, it takes a mom and a dad to produce a baby through the mechanism of sex. • But questions we must answer: • Is this the only way organisms reproduce? • How do each of the methods that satisfy the need to reproduce work? (in general) • Why do the methods work? • What are the advantages and disadvantages?

  4. Objectives. Organism Reproduction • Compare the genetics of offspring in asexual reproduction with the parent. • Describe how the offspring in sexual reproduction compare genetically with the parent. • Chromosome Number Objectives: • Explain why chromosomes are important to an organism. • Compare the number of sets of chromosomes between a haploid cell and a diploid cell. • Create a karyotype to determine chromosome number.

  5. Vocabulary • Gamete • Zygote • Diploid • Haploid • Homologous chromosome

  6. Asexual Reproduction • In asexual reproduction (like MITOSIS) a single parent passes a complete copy of its genetic information to each of its offspring. • The offspring formed by asexual reproduction are genetically identical to its parent. • Clones… • Asexual reproduction is broken down into (at least) 4 types: • Binary fission • Fragmentation • Budding • Parthenogenesis

  7. Asexual Reproduction • Binary Fission. • Similar to MITOSIS without the nucleus. • One parent splits into two genetically identical offspring. • Like bacteria. • Many unicellular eukaryotes also reproduce asexually. • Amoeba…for example

  8. Asexual Reproduction • Some multicellular eukaryotes, such as starfish or Planarian, go through fragmentation. • Fragmentation is a kind of asexual reproduction in which the body breaks into several pieces. Each piece can grow into a new organism.

  9. Asexual Reproduction • Other animals, such as the hydra or a potato, go through budding. • In budding, new individuals split off from existing ones. • Other plants can reproduce from roots or leaves.

  10. Asexual Reproduction • Parthenogenesisis a process in which a female makes a viable egg that grows into an adult without being fertilized by a male. • Ex. • Aphids (pictured) • Water fleas • Boas • Komodo dragons • Sharks • Others.

  11. Check for Understanding • What are 4 types of asexual reproduction we discussed so far? • 1. binary fission • 2. fragmentation • 3. budding • 4. parthenogenesis • List the appropriate definition next to the word • A. a viable egg produced by the mother that grows into an adult without fertilization • B. new individuals split off from existing ones • C. body breaks into several pieces • D. reproduction through cell division • Answers: d, c, b, a

  12. Sexual Reproduction Multicellular Organisms have two types of cells. • Somatic cells: Body cells. • Skin cells, muscle cells, nerve cells, etc. • These grow in number through MITOSIS. • Somatic cells do not participate in sexual reproduction. • Germ cells: Cells that are created for sexual reproduction • Examples: Sperm, egg, pollen, spores • These undergo MEIOSIS division to create gametes. • Only germ cells can produce gametes.

  13. Sexual Reproduction • Most eukaryotic organisms reproduce sexually. • In sexual reproduction, gametes from genetically different parents produce offspring that are a genetic hybrid of the parents. • Each parent produces a reproductive cell, called a gamete. • Male Gamete = sperm • Female Gamete = egg • Gametes fuse during fertilization to form a zygote. • The zygote then develops through mitosis into an organism. • Because both parents give genetic material, the offspring has traits of both parents but is not exactly like either parent.

  14. Sexual • Offspring - Genetically varied • Asexual • Offspring - Genetically identical Germ cell Meiosis Gametes • Egg • Sperm • Pollen • Spore Fertilization Zygote ♀ ♂ Parent Offspring • Cellular reproduction = MITOSIS • Asexual Reproduction • Binary fission • Fragmentation • Budding • Parthenogenesis

  15. Reproduction • We have learned the two types of reproduction. • They are: • 1. Asexual • 2. Sexual • How do the offspring produced from each of these types of reproduction compare to its parent? • Asexual = they are genetically identical • Sexual = they are genetically different (but express traits from both parents)

  16. Asexual Reproduction

  17. Sexual Reproduction

  18. Why is Genetic Variability A Benefit? • Sexual reproduction is only beneficial if it creates a wide variety of traits in offspring. • Variation creates possibilities for the species to survive changing environments. • Fundamental in Natural Selection & Evolution.

  19. In Summary. Genetic Variation from Sexual Reproduction. • Asexual Reproduction is efficient but doesn’t change the genetics of a population. • Can reproduce quickly but they all have the same traits. • Sexual Reproduction is less efficient but does change the genetics of a population. • Reproduce slower but some born are better prepared to survive than others.

  20. Part II Chromosome Number • Organisms are organized by how they reproduce. • They are also organized by their chromosome arrangement.

  21. Chromosomes • Each species has a specific arrangement of chromosomes, both numbers and sizes. • Chromosome • Large (sometimes millions of nucleotides long) • Continuous (it is one or two strands, unbroken) • Contains all genes (part encode for proteins) • An organism is part of a species if it has the same number of chromosomes as other members of the species.

  22. Chromosome Number of Various Organisms

  23. Chromosome Number • Every organism has a specific number of chromosomes and sets. • The arrangement of chromosomes can be determined by observing the karyotype of the organism. • We’ll see this again soon, but for now look at yours.

  24. What is ‘n’? • b. ‘n’ = the number of chromosomes in one set. • a. The number of chromosomes in an organism or cell is determined by inheritance patterns. • Asexual or sexual • What the parent(s) has the offspring has. • Ex. Humans have 23 chromosomes in one set. • Each parent contributes one set so humans have 2 sets of 23, for a total 46 chromosomes. • ‘n’ for humans is 23. • It is written 2n = 46 • Literal translation = human cells have 2 sets of chromosome, 46 in total. • We could calculate the number of chromosomes in a set using simple math (divide by 2)

  25. Decide • Here we have a karyotype from a human. • How many chromosomes are there? • How many chromatids? • Are these chromosomes duplicated or single copy? • How many sets? • How many in one set? • Human gametes have 23 chromosomes in their sets, so for humans n = 23.

  26. Chromosome Number Haploid and Diploid Cells • c. If a cell has one set of chromosomes it’s considered haploid. • Describes a cell, nucleus, or organism that has only one set of unpaired chromosomes • d. A cell, such as a somatic cell, that has two sets of chromosomes is diploid. • A cell that contains 2 haploid sets of chromosomes • There does exist a third kind, polyploid, which can have many more than two copies of each chromosome. Polyploid types are labeled according to the number of chromosome sets in the nucleus: triploid (three sets; 3x), for example the phylumTardigrada[3] tetraploid (four sets; 4x), for example Salmonidae fish pentaploid (five sets; 5x), for example hexaploid (six sets; 6x), for example wheat, kiwifruit[4] octaploid (eight sets; 8x), for example Acipenser (genus of sturgeon fish) decaploid (ten sets; 10x), for example certain strawberries dodecaploid (twelve sets; 12x), for example the plant Celosia argentea and the amphibian Xenopus ruwenzoriensis

  27. Chromosome Number Haploid and Diploid Cells • f. Recall: In organisms that reproduce with two parents there are two types of cells. • g. Somatic cells (also called body cells) • h. Muscle, nerve, etc. • i. Somatic cells are diploid (in humans) • Germ cells (sex cells) are also diploid, but they undergo meiosis, which creates gametes. • j. Gametes are also called reproductive cells. • k. Sperm, egg, pollen, spores. • l. Gametes are haploid, meaning they have one set of chromosomes.

  28. From Dad Chromosome Types • From Mom • The same genes but usually different versions. Homologous Chromosomes • m. Each diploid cell has pairs of chromosomes made up of two homologous chromosomes. • n. Homologous chromosomesare chromosomes that are similar in size, in shape, and in kinds of genes. • Each chromosome in a homologous pair comes from one of the two parents. • Homologous chromosomes can carry different forms of the same genes. • Mom may have the black hair gene where dad could have blond.

  29. Chromosome Types Autosomes and Sex Chromosomes • In a nucleus, there are two types of chromosomes. • p. Autosomesare chromosomes with genes that do not determine the sex of an individual. • What are these genes? • q. Sex chromosomes have genes that determine the sex of an individual.

  30. Chromosome Types Autosomes and Sex Chromosomes • In humans and many other organisms, the two sex chromosomes are referred to as the X and Y chromosomes. • The genes that cause a zygote to develop into a male are located on the Y chromosome. • r. Human males have one X chromosome and one Y chromosome (XY), • s. and human females have two X chromosomes (XX).

  31. Summary • Tell me: • What are the 4 types of asexual reproduction? • As a result of asexual reproduction, how do offspring compare to their parents? • How do offspring of sexual reproduction compare to their parents? • What does haploid mean? • What does diploid mean?

  32. Summary • This is a karyotype. • Tell me what homologous chromosomes are. • Does this show a haploid or diploid organism? • What is this individual’s haploid number? • n = • What is this individual’s diploid number? • 2n =

  33. What’s Next? • Now that you have the necessary information you will begin to explore the process of meiosis. • You will have these assignments to help you practice with it. • Today: Meiosis Notes. Read and Research the steps and highlights of meiosis in groups. • By Monday: Complete the Meiosis Web Lesson. • Pay really close attention to the web lesson. Go through it several times to completely understand it. • By Monday: Have read and outlined CH10

  34. The Benefit of Diversity • EX: Variation in eye color provides different benefits. • Eye color has a direct correlation to absorbing sunlight or being able to see in the dark better. • Light eyes can see better in the dark, dark eyes have less glare in the sun. • EX: Variation in skin color provides different benefits. • Skin color changes the overall affect of UV radiation due to melanin absorption. • Dark skin converts UV radiation into heat, light skin has higher frequency of skin cancer but can tan to accommodate extra sunlight. [The photochemical properties of melanin make it an excellent photoprotectant. It absorbs harmful UV-radiation and transforms the energy into harmless heat through a process called "ultrafast internal conversion".] This property enables melanin to dissipate more than 99.9% of the absorbed UV radiation as heat[3] • Where there’s more sunlight then the skin colors are generally, historically darker.

  35. The Benefits of Genetic Variability • Each version of the gene has advantages in some circumstances, disadvantages in others.

  36. What does this mean? • Having two parents that are genetically different creating a genetically different offspring allows for several ways to keep genetic diversity evolving, and this is a good thing. • 1st: New combinations from parents with different genes allow for new, maybe unseen traits to be created. • 2nd: Because we carry two copies of each gene, sometimes a trait that is bad right now will be kept in the gene pool, hidden by a more dominant form. Sometimes these traits turn out to be good later on down the road. • 3rd: If the environment suddenly changes, the estimate is 10% of the human population contains the trait necessary to survive almost any biologically significant event. • Viral or bacterial infection resistance. • Metabolic stress = lack of food/water. • Changes in O2 levels. • Changes in amounts of sunlight. • Temperature fluctuations.

  37. Karyotyping. • Today you will create and analyze a karyotype, one tool doctors & scientists use to determine ploidy number in an organism. • A karyotype can also be used as a pre-natal diagnostic tool to determine & predict abnormal births. • Review this assignment

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