Helps Prevent Mutations From Occurring Over and Over Again

Summary

Students learn about mutations to both DNA and chromosomes, and uncontrolled changes to the genetic code. They are introduced to pocket-sized mutations (substitutions, deletions and insertions) and large-calibration mutations (deletion duplications, inversions, insertions, translocations and nondisjunctions). The effects of different mutations are studied also every bit ecology factors that may increase the likelihood of mutations. Students do their agreement of different mutation types and processes with the associated activity based off of the childhood game "telephone" . A PowerPoint® presentation and pre/mail service-assessments are provided.

This applied science curriculum aligns to Next Generation Scientific discipline Standards (NGSS).

Engineering Connection

Genetic engineers are able to manipulate the genomes of organisms, however, the consequences are not e'er beneficial. In order to preclude harmful and unwanted mutations, information technology is important for engineers to empathise what effects consequence from certain changes to organisms' genomes (several of which can be seen by studying natural mutations) and how ecology factors tin can affect the probability of mutations occurring.

Learning Objectives

After this lesson, students should be able to:

  • List the different types of mutations.
  • Describe some possible furnishings of mutations.
  • Explicate the role of mutations in genetic syndromes.

Educational Standards

Each TeachEngineering lesson or activity is correlated to 1 or more than Grand-12 science, applied science, applied science or math (STEM) educational standards.

All 100,000+ K-12 STEM standards covered in TeachEngineering are nerveless, maintained and packaged by the Achievement Standards Network (ASN), a project of D2L (www.achievementstandards.org).

In the ASN, standards are hierarchically structured: get-go by source; e.g., by country; inside source by type; e.thou., science or mathematics; within blazon by subtype, then by form, etc.

NGSS: Next Generation Science Standards - Scientific discipline
NGSS Functioning Expectation

HS-LS3-ii. Make and defend a merits based on evidence that inheritable genetic variations may event from: (1) new genetic combinations through meiosis, (2) feasible errors occurring during replication, and/or (3) mutations caused by ecology factors. (Grades ix - 12)

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This lesson focuses on the following Three Dimensional Learning aspects of NGSS:
Science & Applied science Practices Disciplinary Core Ideas Crosscutting Concepts
Brand and defend a merits based on show about the natural world that reflects scientific knowledge, and educatee-generated show.

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In sexual reproduction, chromosomes tin sometimes swap sections during the process of meiosis (jail cell division), thereby creating new genetic combinations and thus more genetic variation. Although DNA replication is tightly regulated and remarkably accurate, errors do occur and issue in mutations, which are besides a source of genetic variation. Environmental factors tin can likewise cause mutations in genes, and feasible mutations are inherited.

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Environmental factors also affect expression of traits, and hence bear on the probability of occurrences of traits in a population. Thus the variation and distribution of traits observed depends on both genetic and environmental factors.

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Empirical evidence is required to differentiate between cause and correlation and make claims about specific causes and effects.

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International Applied science and Engineering Educators Association - Technology
  • The sciences of biochemistry and molecular biology have made it possible to manipulate the genetic data found in living creatures. (Grades 9 - 12) More Details

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Land Standards
Texas - Science
  • identify components of Deoxyribonucleic acid, and describe how information for specifying the traits of an organism is carried in the Deoxyribonucleic acid; (Grades 9 - 11) More Details

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  • identify and illustrate changes in Deoxyribonucleic acid and evaluate the significance of these changes; (Grades 9 - 11) More Details

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Worksheets and Attachments

Visit [www.teachengineering.org/lessons/view/uoh_mutations_lesson01] to print or download.

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Pre-Req Knowledge

Students should have a good understanding of how DNA is copied from one cell to some other through either meiosis or mitosis. They should besides know that changes in the DNA or genes result in the alteration of proteins that may or may not cause noticeable changes to organisms' traits.

Introduction/Motivation

(Be ready to show the class the 22-slide Mutations Presentation, a PowerPoint® file.)

(Slides 1-iii) Introduction/Motivation: Who tin can tell me how Cyclops from the X-Men got his superpowers? (Answer: He'southward a mutant and was born with his superpowers.) What about the Blob? (Answer: Mutation due to exposure to gamma radiation.) And Spiderman? (Answer: Mutated when bitten by a radioactive spider.)

So, we accept identified 3 superheroes who all gained some sort of special abilities from mutations. For Cyclops and any of the X-Men, the powers were caused past a pre-birth DNA or genome mutation. The Hulk and Spiderman powers happened a little differently since the mutations occurred later when they were exposed to radioactive decay in some form or some other.

Today we will discuss some of the science backside mutations. While the superpowers and abilities we but discussed may be fictional, it is true that mutations can accept pregnant impacts on people and prove exists that radiations exposure can lead to an increased rate of mutations. First, nosotros will discuss the different types of mutations, so where or how they tin can occur. We will also talk about some environmental factors that can influence the rate of mutations, and cease by looking at some possible effects of mutations.

(Continue on, presenting the content in the Lesson Background department.)

Lesson Background and Concepts for Teachers

(Slide four) Types of Mutations: Mutations can exist classified several dissimilar ways. In this lesson, we will focus on sorting mutations by their effects on the construction of Deoxyribonucleic acid or a chromosome. For this categorization, mutations tin can be organized into two main groups, each with multiple specific types. The two full general categories are small-scale and big-scale mutations. Similar to the childhood game of "telephone" the Mutation Telephone action helps students illustrate how mutations occur in nature.

Small-scale mutations are those that impact the DNA at the molecular level by irresolute the normal sequence of nucleotide base pairs. These types of mutations may occur during the procedure of DNA replication during either meiosis or mitosis. 3 possible types of small-scale mutations may occur: substitutions, deletions and insertions.

(Slide 5) Also referred to as a "point" mutation, substitutions occur when a nucleotide is replaced with a different nucleotide in the Dna sequence. The about mutual substitutions involve the switching of adenine and guanine (A ↔ G) or cytosine and thymine (C ↔ T). Since the total number of nucleotides is conserved, this type of mutation only affects the codon for a unmarried amino acrid.

(Slide half-dozen) A deletion is the removal of a nucleotide from the Deoxyribonucleic acid sequence. Deletions are referred to as "frameshift" mutations because the removal of even a single nucleotide from a cistron later alters every codon later on the mutation (it is said that the reading frame is "shifted"); this is illustrated in Figure one for both deletions and insertions. The alter in the number of nucleotides changes which ones are normally read together.

Four boxes illustrate normal DNA and three small-scale mutation examples. 1) A normal DNA sequence (TAT, CAT, CCT, AAG, GTA) and the resultant proteins (Tyr, His, Pro, Lys, Val), 2) the same normal DNA sequence with one base substituted for another (CCT > CGT) and the new resultant protein (Arg), 3) the same normal DNA sequence with a base inserted and the new resultant protein, 4) the same normal DNA sequence with a base deleted and the new resultant protein.
Figure 1. Instance modest-scale mutations. Substitutions are point mutations and change only ane amino acid in the protein. Insertions and deletions are frameshift mutations and alter every amino acid coded for after the mutation.

copyright

Copyright © 2015 Matthew Zelisko, GK-12 Program, Academy of Houston

(Slide 7) An insertion is the addition of a nucleotide to the DNA sequence. Similar to a deletion, insertions are also considered "frameshift" mutations and alter every codon that is read after the mutation.

(Slide 8) Large-scale mutations are those that affect entire portions of a chromosome. Some large-scale mutations touch only single chromosomes, others occur across nonhomologous pairs. Some large-scale mutations in the chromosome are coordinating to the small-scale mutations in DNA; the difference is that for large-scale mutations, entire genes or sets of genes are altered rather than but unmarried nucleotides of the Deoxyribonucleic acid. Single chromosome mutations are most probable to occur by some error in the DNA replication stage of cell growth, and therefore could occur during meiosis or mitosis. Mutations involving multiple chromosomes are more likely to occur in meiosis during the crossing-over that occurs during the prophase I. Most of these mutations are illustrated in Effigy 2.

A drawing shows five chromosome mutations. 1) a chromosome with a portion removed (deletion), 2) a chromosome with a portion duplicated (duplication), 3) a chromosome with a portion inverted (inversion) 4) two chromosomes with a portion of one removed and inserted in the other (insertion), and 5) two chromosomes with a portion of both removed and switched with the other (translocation).
Effigy two. Big-scale mutations affect unabridged sections of a chromosome.

copyright

Copyright © 2009 YassineMrabet, Wikimedia Commons {PD} http://commons.wikimedia.org/wiki/File:Chromosomes_mutations-en.svg

(Slide nine) Large-scale deletion is a unmarried chromosome mutation involving the loss of one or more cistron(due south) from the parent chromosome.

(Slide ten) Duplication is the addition of one or more gene(s) that are already present in the chromosome. This is a unmarried chromosome mutation.

(Slide 11) An inversion mutation involves the complete reversal of ane or more gene(s) within a chromosome. The genes are present, but the order is backwards from the parent chromosome. This is also a single chromosome mutation.

(Slide 12) Big-scale insertion involves multiple chromosomes. For this type of insertion, one or more gene(s) are removed from one chromosome and inserted into another nonhomologous chromosome. This can occur by an error during the prophase I of meiosis when the chromosomes are swapping genes to increase diversity.

(Slide thirteen) Translocation also involves multiple nonhomologous chromosomes. Here, the chromosomes bandy i or more gene(s) with some other chromosome.

(Slide 14) A nondisjunction mutation does non involve any errors in Dna replication or crossing-over. Instead, these mutations occur during the anaphase and telophase when the chromosomes are non separated correctly into the new cells. Common nondisjunctions are missing or extra chromosomes. When gametes with nondisjunctions are produced during meiosis, it tin outcome in offspring with monosomy or trisomy (a missing or extra homologous chromosome).

(Slide 15) The effects of mutations may range from cypher to the unviability of a cell. All mutations affect the proteins that are created during protein synthesis, only not all mutations take a significant impact. The effects can likewise exist looked at differently betwixt the pocket-sized-scale and big-scale mutations.

(Slide 16) The effects of small-scale-scale mutations: Frameshift mutations, insertions and deletions on genes take similar effects. When a nucleotide is added or removed from the DNA sequence, the sequence is shifted and every codon after the mutation is inverse, every bit shown in Effigy 1. This results in severe alterations to the proteins that are encoded by the Dna, which tin can atomic number 82 to a loss of functionality for those proteins.

Substitutions, or point mutations, are much more subtle and have three possible furnishings. The tabular array in Figure three shows how some point mutations may lead to common disorders.

  • Silent: The nucleotide is replaced, but the codon still produces the same amino acid.
  • Missense: The codon now results in a different amino acid, which may or may not significantly alter the protein'south office.
  • Nonsense: The codon now results in a "terminate" control, truncating the protein at the location where the mutated codon is read; this most ever leads to a loss of protein functionality.

These mutations may occur anywhere in the DNA, so the effect of the mutation actually depends on its location. If the mutation occurs in a factor, the result is an altered protein, but the mutation can also occur in a nongenic region of the DNA. In the latter example, the mutation has no effect on the organism.

A table aligns DNA/RNA to corresponding amino acids. Arrows connect common mutations to single nucleotides leading to various conditions, such as sickle-cell disease and Friedreich's ataxia. Clinically important missense mutations generally change the properties of the coded amino acid residue between being basic, acidic, polar or nonpolar, while nonsense mutations result in a stop codon. In the case of cancers, mutations cause aggravation of the conditions by impairing tumor suppressors or activating oncogenes. Every U (uracil) in the mRNA corresponds to a T (thymine) in the original DNA. Therefore, mutations are often noted using T rather than U.
Effigy 3. Notable pocket-sized mutations and resultant conditions.

copyright

Copyright © 2009 Mikael Häggström, Wikimedia Commons {PD} http://eatables.wikimedia.org/wiki/File:Notable_mutations.svg

(Slides 17-xviii) The effects of large-scale mutations are more obvious than those of small-scale mutations. Duplication of multiple genes causes those genes to be overexpressed while deletions issue in missing or incomplete genes. Mutations that change the order of the genes on the chromosome—such as deletions, inversions, insertions and translocations—outcome in close-together genes that were previously separated either past a ready of genes on the same chromosome or on some other chromosome birthday. When certain genes are positioned closely together, they may encode for a "fusion protein," which is a protein that would not normally exist simply is created by a mutation in which two genes were combined. Some of these new proteins give cells a growth advantage leading to tumors and cancer. Astrocytoma, a type of brain tumor, is the result of a deletion that creates a new fusion gene that permits the cells to become malignant.

An illustration shows 46 chromosomes numbered and organized into 23 homologous pairs.
Figure 4. A normal human being male karyotype with XY as the 23rd pair of chromosomes.

copyright

Copyright © 1997 National Cancer Institute, Wikimedia Eatables https://commons.wikimedia.org/wiki/File:Karyotype_%28normal%29.jpg

(Slide 19) Often, large-calibration mutations lead to cells that are non viable (and die due to the mutation). This is especially true with nondisjunction mutations in gametes in which entire chromosomes are missing or extra. In humans, when the gamete from a male (sperm) merges its chromosomes with the gamete from a female (egg), the offspring receive 23 chromosomes from each parent to class 23 homologous pairs, every bit shown in the karyotype in Effigy iv. However, when one of the gametes has a nondisjunction mutation, the resulting offspring end up with but one homolog in a pair (monosomy) or with three homologs in a pair (trisomy). Virtually of the time, these offspring are not viable. The ones that practise event in viable offspring will possess some noticeable differences due to the extra or missing chromosome; this alteration leads to a permanent syndrome in the offspring. The most well-known syndrome is trisomy 21, an actress 21st chromosome (this karyotype is shown in Figure five); this item nondisjunction mutation leads to Down syndrome.

An illustration that shows 47 chromosomes organized into numbered homologous pairs, with the exception being location 21 that has three copies of that chromosome (one extra).
Figure v. A karyotype illustrating trisomy 21—a mutation that leads to Downward syndrome.

copyright

Copyright © 2006 Homo Genome Project, National Institutes of Health, Wikimedia Commons http://commons.wikimedia.org/wiki/File:Down_Syndrome_Karyotype.png

(Slide xx) What tin can influence mutations? Mutations naturally occur over time, which is the underlying cause of development. As we can meet, development is a very boring process with a net benefit to an organism, but some environmental factors may influence or induce additional mutations. These induced mutations ofttimes lead to harmful diseases, such as cancer.

Exposure to certain chemicals is one ecology cistron that may induce DNA mutations. Typically, anything that nosotros identify as carcinogenic (may cause cancer) has negative side effects on DNA, and may pb to cancer. This includes the chemicals found in cigarette smoke as well as those found in meats cooked on the grill. These chemicals vest to a larger form called mutagens, meaning they can lead to changes in genetic material.

Chemicals are not the only types of mutagens that we run into; physical mutagens as well exist in the surroundings, namely radiations. Ultraviolet radiation from the sun can damage genetic material by irresolute the properties of nucleotides in the Deoxyribonucleic acid. Overexposure to ultraviolet radiation is known to lead to peel cancer. X-rays and gamma radiation are as well physical mutagens and forms of ionizing radiation; this means that these types of radiation possess enough energy to remove electrons from atoms, thus forming ions and affecting how different biomolecules collaborate. While a typical dose of ten-rays received during a medical procedure is low, it does marginally increase a person'southward cancer adventure.

Alternatively, retroviruses such as HIV naturally experience mutations at a much college rate than other organisms, which can exist attributed to the fact that they possess RNA instead of DNA. The procedure past which RNA is copied and replicated is not equally precise equally that of DNA. Therefore, by the time our immune system has adjusted to fight a virus like HIV, the HIV virus has already mutated again and the immune arrangement must start over. The mutations in the HIV'south RNA lead to alterations in the protein markers on the virus that the immune system targets, and if the target is ever irresolute, it is almost incommunicable for the allowed system to remove the virus.

(Slides 21-22) Applied science Connection: While mutations occur naturally over fourth dimension, biological engineers are able to genetically modify various organisms. Humans take been genetically modifying plants and animals for thousands of years. Humans have accomplished this by selectively breeding or inbreeding in order to produce and "amend" specific traits, such equally breeding watermelons to be larger and accept fewer seeds or breeding chickens to have more than white meat and more breast meat.

With the advancement of technology, engineers can directly manipulate the genetic lawmaking of plants and animals. Some examples of genetically modified (and controversial) organisms include disease-resistant papaya, vitamin A-rich rice and drought-tolerant corn. Currently, researchers are studying gene editing in the womb. If it is determined that an unborn kid has a disease or disability, so we may one day be able to edit the genes of the unborn child and preclude the consequence from appearing in the child.

Associated Activities

  • Mutation Telephone - As a style to illustrate how Dna mutations tin happen, students conduct an activeness like to the childhood "telephone" game that models the biological process related to the passage of DNA from 1 cell to another. Then, students act as predators to test how diverse mutation types (normal, exchange, deletion or insertion) touch the survivability of an organism in the wild, which serves equally a demonstration of natural option based on mutation.

Vocabulary/Definitions

chromosome: A long strand of DNA wrapped around a protein that stores instructions to create several proteins. Humans have 46 chromosomes equanimous of 23 pairs of homologous chromosomes.

disjunction: Normal separation of chromosomes during meiosis.

DNA: A molecule that contains an organism'southward complete genetic information. Abbreviation for deoxyribonucleic acid.

DNA replication: The process past which DNA is copied and passed on to new cells.

gamete: A sex cell. In mammals, the sperm and eggs. Has half the chromosomes of the parent organism.

gene: A subset of Deoxyribonucleic acid that provides instructions for a prison cell to build a single protein.

genome: The complete genetic information for an organism; it includes all of the chromosomes.

karyotype: A picture of an organism's genome with the chromosomes organized past homologous pairs.

meiosis: A type of prison cell division that occurs in sexually reproducing organisms and typically results in four cells with one-half the number of chromosomes of the parent. In humans, meiosis results in the creation of sperm or eggs with 23 chromosomes each.

mitosis: A type of jail cell segmentation that results in two identical cells with the same number of chromosomes equally the parent.

monosomy: A situation in which a homolog is missing from a chromosome pair. For example, if simply one homolog exists for chromosome 21, it is called monomsomy 21.

mutagen: A concrete or chemical agent that affects genetic material.

mutation: A permanent alteration in either the DNA nucleotide sequence during Deoxyribonucleic acid replication or a chromosome during meiosis or mitosis.

nondisjunction: The aberrant separation of chromosomes during meiosis.

poly peptide synthesis: A procedure past which the instructions contained in DNA are used to produce proteins for a cell or organism.

trisomy: A situation in which an extra chromosome is nowadays. For example, if three homologs exist for chromosome 21, information technology is chosen trisomy 21 or Down's syndrome.

Assessment

Pre-Lesson Assessment

Mutation Questions: At the beginning of course, have students write short answers to the 3 questions on the Pre-Lesson Worksheet. Tip: To salvage newspaper and ink, since the colour of the tiger in the photograph is important for this assessment, display the worksheet via projector and take students write their answers on their own papers. Students' answers reveal their base understanding of genetics, traits and mutations.

Lesson Summary Cess

Mutation Questions: After the lesson, have students write short answers to the 4 questions on the Post-Lesson Worksheet. Tip: To salvage paper and ink, since the colour of the tiger in the photograph is important for this assessment, display the worksheet via projector and have students write their answers on their own papers. Students' answers reveal their comprehension of the lesson subject matter and content.

Homework

Research: Have students choose a syndrome caused past a mutation (such as extra or missing chromosomes) and write a cursory, 3-5 sentence paragraph on it. Brand sure they mention the specific mutation to the chromosome that leads to the syndrome and what furnishings that mutation causes.

Copyright

© 2016 past Regents of the University of Colorado; original © 2015 Academy of Houston

Contributors

Matthew Zelisko; Kimberly Anderson; Kent Kurashima

Supporting Program

National Science Foundation GK-12 and Research Feel for Teachers (RET) Programs, Academy of Houston

Acknowledgements

This digital library content was adult by the University of Houston'due south College of Engineering under National Scientific discipline Foundation GK-12 grant number DGE 0840889. However, these contents practise non necessarily stand for the policies of the NSF and you should non assume endorsement past the federal government.

Last modified: April 16, 2022

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