Name: mutations in dna and inherited disease
Uploaded: 2023-04-30T10:30:03.000Z
Duration: 1 min 35 s
Channel: JoVE

K12 Standards

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NC K-12 Science Standard Course of Study

9-12

Biology

heredity-inheritance-and-variation-of-traits

Heredity- Inheritance and Variation of Traits

LS.Bio.6.2

Mutations

A mutation is an alteration in a DNA sequence that can occur due to copying errors during replication or any physical or chemical damage to DNA.
The most common types of mutations are point mutations.
Here, a single nucleotide change can produce a protein that is either totally normal or completely non-functional, depending on the type of point mutation. These include silent, missense, nonsense, and frameshift mutations.
Silent mutations do not alter the amino acid sequence of a protein. For instance, if the codon CCA is changed to CCG, it will still encode for the amino acid, proline, and the protein will function normally.
Missense mutations, on the other hand, result in the substitution of one amino acid for another, such as glutamine instead of proline, which can cause the protein to malfunction.
Nonsense mutations occur when a codon for an amino acid is changed to a stop codon. This signals the cell to stop translation, resulting in a prematurely truncated protein that is often non-functional.
Finally, in the case of frameshift mutations, insertion or deletion of one or more nucleotides shifts the reading frame on the mRNA. This results in new codons that encode for a different amino acid sequence and an abnormal protein.

mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in DNA, chromosomal alterations are changes in the number or structure of a chromosome. Chromosomal alterations can include deletion, duplication, or inversion of large stretches of DNA within a single chromosome, or integration of a portion of a different chromosome. These mutations are typically far more serious than point mutations because they encompass many genes and regulatory elements. Chromosomal alterations can be detected by karyotyping the affected cell.
Only Germline Mutations Are Inherited
Mutations can occur in any cell, but only germline mutations&#8212;those present in egg and sperm cells&#8212;can be transmitted to offspring. For instance, hereditary diseases are a subtype of genetic disorder that are caused by deleterious germline mutations. They can be autosomal, occuring on chromosomes one through 22, or sex-linked, occurring on the X or Y chromosome. One example of a hereditary disease is cystic fibrosis (CF), a disease that primarily affects the lungs. It is caused by a deletion within the gene CFTR that removes a single amino acid from the CFTR protein. CF is an autosomal recessive disease, meaning that a person with one mutated copy of the gene and one normal copy will not develop the disease. Other diseases, like Huntington&#39;s disease, a neurodegenerative disorder, are autosomal dominant, meaning that only one mutated copy of the gene is necessary for the disease to develop.
Some Mutations Are Caused by Environmental Factors
Both somatic mutations&#8212;those that occur outside the germline&#8212;and germline mutations can arise spontaneously during DNA replication, but they can also be caused by exposure to radiation or chemicals in the environment. External factors that damage DNA and cause mutations are called mutagens. One well-characterized environmental mutagen is ultraviolet (UV) radiation. UV radiation carries more energy than visible light and damages DNA by breaking the bonds between base pairs, causing thymine bases on the same strand of DNA to pair with one another in characteristic thymine dimers. The sun is a natural source of UV radiation. Artificial sources of UV exposure include tanning beds, which transmit primarily UV-A rays with smaller amounts of UV-B. Fortunately, cells have mechanisms to repair damaged DNA, but sometimes the damage is not repaired before the next round of cell division, especially in rapidly-dividing cells, such as skin cells. If the DNA damage occurs in a genomic region that is important for regulation of cell growth and division, it can lead to cancer if left unrepaired.

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations ...

Education

JoVE Core

Cell Biology

Unit 1

Cells, Genomes, and Evolution

KEY TERMS AND CONCEPTS

mutations in dna and inherited disease

Mutations are changes in the DNA sequence. They can happen on their own during DNA copying, or they can be caused by environmental factors. Scientists describe mutations in several ways, including whether they change the amino acid sequence of a protein, how much DNA they affect, and whether they occur in somatic cells or germline cells.

Some mutations are point mutations. A point mutation changes a single nucleotide in DNA. Other mutations are chromosomal alterations, which change the number or structure of a chromosome. These large-scale changes can include deletion, duplication, inversion, or the insertion of a piece of another chromosome. Because they can affect many genes and regulatory elements, chromosomal alterations are often more serious than point mutations. They can be detected by karyotyping the affected cell.

Mutations can occur in any cell, but only germline mutations are inherited. Germline mutations are found in egg and sperm cells, so they can be passed to offspring. These mutations can cause hereditary diseases, which are genetic disorders caused by harmful germline changes. Hereditary diseases can be autosomal, meaning they occur on chromosomes 1 through 22, or sex-linked, meaning they occur on the X or Y chromosome.

Cystic fibrosis is one example of a hereditary disease. It mainly affects the lungs and is caused by a deletion in the CFTR gene that removes one amino acid from the CFTR protein. Cystic fibrosis is autosomal recessive, so a person with one mutated copy and one normal copy usually does not develop the disease. Huntington’s disease is another example. It is a neurodegenerative disorder and is autosomal dominant, which means one mutated copy of the gene is enough for the disease to appear.

Some mutations are caused by environmental factors. These external factors that damage DNA are called mutagens. Both somatic and germline mutations can happen spontaneously, but they can also result from radiation or chemicals in the environment. One well-known mutagen is ultraviolet, or UV, radiation. UV light has more energy than visible light and can damage DNA by breaking bonds between base pairs. This can cause thymine bases on the same DNA strand to pair with each other and form thymine dimers.

The sun is a natural source of UV radiation. Tanning beds are an artificial source, and they transmit mostly UV-A rays with smaller amounts of UV-B. Cells can repair damaged DNA, but sometimes the damage is not fixed before the next round of cell division. This is more likely in rapidly dividing cells, such as skin cells. If the damage affects a region that helps control cell growth and division, it can lead to cancer if it is left unrepaired.

Mutations in DNA and Inherited Disease

what are cells?

Cells as the Building Blocks of Life

Cells are the basic building blocks of life. A bacterium can be a single cell, while a human is made of trillions of cells. Even with this range, cells share key features that support life. A living cell has a plasma membrane. This is a bilayer of lipids that separates the cytoplasm inside the cell from the outside environment. A cell also carries genetic information in the form of DNA. In prokaryotic cells, DNA is found in a region called the nucleoid. In eukaryotic cells, DNA is enclosed...

the tree of life - bacteria, archaea, and eukaryotes

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Three Domains on the Tree of Life

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prokaryotic cells

How Prokaryotes Survive Without a Nucleus

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eukaryotic compartmentalization

How Organelles Keep Cells Working

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eukaryotic evolution

How Eukaryotic Cells Became Complex

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cytoplasm

Cytoplasm and the Cell’s Internal Support

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the nucleus

Nuclear DNA, Chromatin, and Nucleoli

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the dna helix

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Mutations are changes in the DNA sequence. They can happen on their own during DNA copying, or they can be caused by environmental factors. Scientists describe mutations in several ways, including whether they change the amino acid sequence of a protein, how much DNA they affect, and whether they occur in somatic cells or germline cells. Some mutations are point mutations. A point mutation changes a single nucleotide in DNA. Other mutations are chromosomal alterations, which change the number...

genome size and the evolution of new genes

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Genome Size and Gene Evolution

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gene families

Shared Origins of Gene Families

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gene evolution - fast or slow?

Gene Evolution Rates and Selection

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types of genetic transfer between organisms

types-of-genetic-transfer-between-organisms

Vertical and Horizontal Gene Transfer

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key terms and concepts

Explore how DNA mutations happen, how chromosomal alterations differ from point mutations, and why germline mutations can cause inherited disease and cancer.

Mutations in DNA and Inherited Disease | JoVE K12

cell biology

JoVE Core Cell Biology illustrates complex cellular processes in easy-to-understand yet comprehensive animated video lessons. This collection focuses on the essential components and functions of cells, including organelles and membranes, cellular transport, and cell energetics. It is complemented by scientist-in-action videos that demonstrate the application of cell biology in real-world research experiments.

Pennsylvania State Academic Standards

Life Science

Inheritance and Variation of Traits

3.1.9-12.P

3.1.9-12.Q

Structure and Function

3.1.9-12.A

Louisiana Student Standards for Science

High School

Life Sciences

Heredity: Inheritance And Variation Of Traits

HS-LS3-3

Biological Evolution: Unity And Diversity

HS-LS4-1

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Ohio’s Learning Standards and Model Curriculum

Heredity

Virginia  Standards of Learning

HIgh School

BIO.2

BIO.2.d

BIO.5

BIO.5.b

Arizona Science Standards

HS.L3

HS.L3U1.25

HS+B.L3

HS+B.L3U1.12

Next Generation Science Standards

Physical Science

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Waves and Their Applications in Technologies for Information Transfer

HS-PS4-4

Florida Department of Education

SC.912.L.16

SC.912.L.16.4

Texas Essential Knowledge and Skills

BIO.7

BIO.7.C

What is Meiosis?

Meiosis is the process by which diploid cells divide to produce haploid daughter cells. In humans, each diploid cell contains 46 chromosomes, half from ...

Meiosis I

Meiosis II

Meiosis vs. Mitosis

Crossing Over

Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to ...

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This ...

Spermatogenesis

Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of ...

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from ...

Fertilization

During fertilization, an egg and sperm cell fuse to create a new diploid structure. In humans, the process occurs once the egg has been released from the ...

Cleavage and Blastulation

After a large-single-celled zygote is produced via fertilization, the process of cleavage occurs while zygotes travel through the uterine tube. Cleavage ...

Gastrulation

Gastrulation establishes the three primary tissues of an embryo: the ectoderm, mesoderm, and endoderm. This developmental process relies on a series of ...

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three ...

Cell Migration

Cell migration, the process by which cells move from one location to another, is essential for the proper development and viability of organisms ...

Determination

During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. ...

Use models to explain how DNA is passed from parents to offspring through the processes of meiosis and fertilization in sexual reproduction.

LS.Bio.6.1

Genome Size and the Evolution of New Genes

Types of Genetic Transfer Between Organisms

Base-pairing and DNA Repair

The DNA Replication Fork

Lagging Strand Synthesis

The Replisome

Proofreading

Synthesis of new DNA molecules is carried out by the enzyme DNA polymerase, which adds nucleotides on the daughter strand complementary to the template ...

Replication in Prokaryotes

DNA replication has three main steps: initiation, elongation, and termination. Replication in prokaryotes begins when initiator proteins bind to the ...

Replication in Eukaryotes

In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before ...

Overview of DNA Repair

Base Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens&#8212;factors in the environment that can damage DNA and generate mutations. UV ...

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the ...

Fixing Double-strand Breaks

Homologous Recombination

Gene Conversion

Restarting Stalled Replication Forks

Construct an explanation to summarize how inheritable genetic variations may result from: new genetic combinations in meiosis, mutations during replication, or mutations caused by environmental factors.

An Overview of Genetic Analysis

An organism&#8217;s physical traits, or phenotype, are a product of its genotype, which is the combination of alleles (gene variants) inherited from its ...

Genetic Crosses

To dissect genetic processes or create organisms with novel suites of traits, scientists can perform genetic crosses, or the purposeful mating of two ...

Punnett Squares

Monohybrid Crosses

Dihybrid Crosses

Trihybrid Crosses

Trihybrid Crosses
Some of Mendel&#8217;s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A ...

Law of Independent Assortment

Chi-square Analysis

The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an ...

Pedigree Analysis

Multiple Allele Traits

Incomplete Dominance

Gregor Mendel&#39;s work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid ...

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cu&#233;not discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is ...

Polygenic Traits

background-and-environment-affect-phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as ...

Use mathematics and computational thinking to predict the variation and distribution of expressed traits based on: Mendelian inheritance, co-dominance, incomplete dominance, multiple alleles, and sex-linked inheritance.

LS.Bio.7.1

Overview

A pedigree is a diagram displaying a family&#x2019;s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or ...

Probability Laws

Overview

The probability of inheriting a trait can be calculated using the sum and product rules. The sum rule is used to calculate the probability of ...

The Concept of Multiple Allelism

Multiple allelism describes genes that exist in three or more allelic forms. Although diploid organisms, like humans, ...

Analyze and interpret data to explain how polygenic traits result in a wide range of phenotypes.

LS.Bio.7.2

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause ...

Nature and Nurture

Many human characteristics, like height, are shaped by both nature&mdash;in other words, by our genes&mdash;and by nurture, or our environment. For ...

Construct an explanation to summarize how traits result from interactions of genetic factors (multiple genes and/or alleles) and environmental factors.

LS.Bio.7.3

PCR: The Polymerase Chain Reaction

The polymerase chain reaction, or PCR, is a technique used to amplify DNA through thermocycling &#8211; cyles of temperature changes at fixed time ...

DNA Gel Electrophoresis

DNA gel electrophoresis is a technique used for the detection and separation of DNA molecules. An electric field is applied to a gel matrix comprised of ...

Analyze and interpret data to compare DNA samples.

LS.Bio.8.1

Understand genetic mechanisms for variation.

Mutations in DNA and Inherited Disease

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