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Mutations and their causes

Source: Command Care, www.flickr.com, licencja: CC BY 2.0.

Link to the lesson

Before you start you should know
  • sexual reproduction is the cause of genetic variation;

  • some diseases are the results of errors which happened in DNA.

You will learn
  • to explain the difference between the inherited genetic variation and non‑inherited variation and give examples;

  • to explain what mutations are and what their connection with genetic variation is;

  • to give examples of mutagens.

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Nagranie abstraktu

During copying of the DNA strand errors happen. As a result of those errors, genetic information changes. Those sudden changes to the genetic material of the cell, which are lasting ones (they become permanent), are called mutations.mutationmutations. Most often, permanent changes in the DNA take place not as a result of an error in copying of the strand, but as a result of external factors, called mutagensmutagensmutagens. They can not only cause changes in the sequence of nucleotides (gene mutations), but also in the build and number of chromosomes (chromosome and genome mutationschromosome and genome mutations(chromosome and genome mutations. Mutagens are physical factors, e.g. UV radiation; chemical factors, e.g. some chemical compounds in exhaust fumes (dioxinesdioxinesdioxines) and cigarette smoke; and biological factors, such as some viruses and products of the metabolism of mould.

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Examples of mutagenic agents
Source: Dariusz Adryan, licencja: CC BY 3.0.

Mutations that take place in individual genes are called gene mutationgene mutationgene mutation. Those are the changes in the sequence of individual nucleotides in the DNA. Those can appear in any given DNA section.

Other types of mutations are chromosome and mutations which are based on the change of the structure of chromosomes, caused mainly by mutagenic agents. As a result of e.g. ionizing radiation, chromosomes can break into pieces, which can rearrange themselves in a different configuration. Changes in number of chromosomes (genome mutations) occurs when an individual either is missing a chromosome from a pair or has more than two chromosomes of a pair (e.g. Down syndrome).

Majority of small changes in the genetic material is neutral. Some of them are beneficial and give the organisms an upper hand over those, which did not undergo that particular mutation. Very few mutations are dangerous. Sometimes a change in one nucleotide in the DNA sequence can cause an incorrect function of an entire gene, and, as a result, the creation of an incorrect protein (or lack of a protein) and, in consequence, a genetic disease.

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Ilustracja interaktywna 1. Changes in the genetic material of a chromosome are usually based on losing a part of a chromosome(1), doubling a fragment of a chromosome (2), turning a fragment of a chromosome 180o (3) or moving it into a different place (4)., 2. It can happen that a fragment of one chromosome can be moved to another chromosome (1) or that fragments of 2 chromosomes are switched (2)., 3. In males that have additional X chromosome in somatic cells we observe higher stature than average and weakly developed tertiary sexual characteristics. Such men are infertile., 4. The cause of Down syndrome is the presence of additional chromosome no. 21. People suffering from Down syndrome usually are mildly or slightly intellectual disability. This syndrome is accompanied by a number of birth defects, including characteristic facial features
1-2 chromosome mutations, 3-4 genome mutations
Source: GroMar Sp. z o.o., licencja: CC BY-SA 3.0.

Organism has many ways of protecting itself from DNA damage. However, sometimes those mechanisms fail. Mutations can spread to offspring cells during the next reproduction. Mutagens appearing in somatic cells are not inherited by the offspring that is created as a result of sexual reproduction, but they can e.g. cause cancer in organisms where they took place. If a mutation is in the DNA of reproductive cells, it will be transferred to the offspring.

Task 1

Explain why during teeth x‑ray your torso is covered by a special apron that stops the radiation.

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Exercise 1
Ćwiczenie wskaż odpowiedź. Are mutations dangerous for the life on Earth? Select the correct answer. Możliwe odpowiedzi: 1. Majority of mutations is not dangerous. It is proved by the current biodiversity., 2. All mutations are dangerous. The effect of every mutation is a disease of the organism that underwent the mutation., 3. All mutations are beneficial. This is proved by lack of diseases caused by mutations., 4. It is unknown whether mutations are dangerous or beneficial. There hasn’t been any research done yet.
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Exercise 2
Ćwiczenie połącz w pary. Match definitions to the notions below. mutation Możliwe odpowiedzi: 1. chemical compounds that are the result of burning organic substances and are mutagenic, 2. sudden permanent changes in genetic information of organism, 3. factors that cause mutations. mutagens Możliwe odpowiedzi: 1. chemical compounds that are the result of burning organic substances and are mutagenic, 2. sudden permanent changes in genetic information of organism, 3. factors that cause mutations. dioxin Możliwe odpowiedzi: 1. chemical compounds that are the result of burning organic substances and are mutagenic, 2. sudden permanent changes in genetic information of organism, 3. factors that cause mutations
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Exercise 3
Ćwiczenie wskaż prawidłowe odpowiedzi. Select mutagenic factors on the following list. Możliwe odpowiedzi: 1. some viruses, 2. high temperature, 3. high humidity of air, 4. nuclear radiation, x-rays, UV radiation, 5. sugar present in food, 6. certain heavy metals
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Exercise 4
Ćwiczenie przyporządkuj elementy. Match the effect of the DNA mutation with the correct group. gene mutations Możliwe odpowiedzi: 1. the emergence of people suffering from Down syndrome in human population, 2. the emergence of allele that conditions blue colour of fur in the population of domestic cat, 3. the emergence of alleles that condition light coloured eyes in human population, 4. The emergence of allele that conditions pink colour of flowers, 5. the emergence of people with incorrect number of sex chromosomes in human population. chromosome and genome mutations Możliwe odpowiedzi: 1. the emergence of people suffering from Down syndrome in human population, 2. the emergence of allele that conditions blue colour of fur in the population of domestic cat, 3. the emergence of alleles that condition light coloured eyes in human population, 4. The emergence of allele that conditions pink colour of flowers, 5. the emergence of people with incorrect number of sex chromosomes in human population

Summary

  • Mutations change the genetic information; they can happen spontaneously, as a result of an error in the process of copying DNA, or can be caused by mutagenic agents.

  • Gene mutations take place in individual genes and are based on changes in the sequence of nucleotides in the DNA.

  • Chromosome and genome mutations are based on changes in the build and number of chromosomes, respectively.

Keywords

mutations, mutagens, gene mutations, chromosome and genome mutations

Glossary

dioxines
dioxines
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Nagranie słówka

dioksyny – związki chemiczne o działaniu mutagennymi i rakotwórczym; powstają głównie podczas spalania drewna, węgla, benzyny i innych substancji organicznych, w tym także odpadów komunalnych i przemysłowych, oraz podczas produkcji i przetwarzania metali

mutation
mutation
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Nagranie słówka

mutacja – nagła, trwała zmiana w informacji genetycznej organizmu, polegająca na zmianie struktury lub ilości materiału genetycznego

chromosome and genome mutations
chromosome and genome mutations
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Nagranie słówka

mutacja chromosomowa i genomowa – rodzaje mutacji polegające odpowiednio na zmienie struktury i liczby chromosomów

gene mutation
gene mutation
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Nagranie słówka

mutacja genowa – jeden z typów mutacji; polega na zmianie sekwencji nukleotydów w DNA, co może powodować powstanie nowych alleli genów

mutagens
mutagens
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Nagranie słówka

mutageny – czynniki powodujące mutacje, czyli zmiany w informacji genetycznej

genetic variation
genetic variation
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Nagranie słówka

zmienność genetyczna – naturalne różnice w sekwencji DNA, występujące u osobników danego gatunku, będące wynikiem rozmnażania płciowego i mutacji

non‑inherited variation
non‑inherited variation
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Nagranie słówka

zmienność niedziedziczna – zróżnicowanie cech osobników jednej populacji zachodzące pod wpływem środowiska; nie jest dziedziczona