Name: dna changes from point mutations to uv damage
Uploaded: 2026-08-26T08:19:55.800Z
Duration: 2 min 27 s
Channel: JoVE

K12 Standards

Tennessee Academic Standards

High School

Biology

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From Molecules to Organisms: Structures and Processes

BIO1.LS1.3

Mutations

- Mutaciones puntuales, donde
se cambia un solo nucle&#xF3;tido,

pueden producir una prote&#xED;na
que es totalmente normal

O completamente no funcional,
dependiendo del tipo.

Estos incluyen: silencioso,
carente de sentido, sin sentido,

y mutaciones de cambio de marco.

Mutaciones silenciosas, como
su nombre lo indica, no tienen

efecto en la secuencia de
amino&#xE1;cidos de una prote&#xED;na.

Por ejemplo, si el cod&#xF3;n
CCA se cambia a CCG,

todav&#xED;a codificar&#xE1; para
el amino&#xE1;cido, prolina,

y la prote&#xED;na funcionar&#xE1; normalmente.

Las mutaciones sin sentido, por otro lado,

dan lugar a la sustituci&#xF3;n
de un amino&#xE1;cido

por otro, como la arginina
en lugar de la prolina,

Lo que puede causar el mal
funcionamiento de la prote&#xED;na.

Las mutaciones sin sentido se producen

cuando un cod&#xF3;n para un amino&#xE1;cido

Se cambia a un cod&#xF3;n de parada.

Esto se&#xF1;ala a la c&#xE9;lula
para detener la traducci&#xF3;n,

dando como resultado una
prote&#xED;na prematuramente truncada

que a menudo es no funcional.

Finalmente, se producen
mutaciones de desplazamiento de

Marco cuando el marco de
lectura, como los conjuntos

e tres nucle&#xF3;tidos se agrupan en codones,

Se desplaza, a menudo debido
a la inserci&#xF3;n o eliminaci&#xF3;n

de uno o m&#xE1;s nucle&#xF3;tidos.

Esto da lugar a una
serie de nuevos codones.

codificaci&#xF3;n para diferentes amino&#xE1;cidos,

Creando una prote&#xED;na anormal.

mutaciones

Las mutaciones son cambios en la secuencia del ADN. Estos cambios pueden producirse espont&#xE1;neamente durante la replicaci&#xF3;n del ADN o ser inducidos por factores ambientales. Las mutaciones pueden caracterizarse de varias maneras: seg&#xFA;n si alteran la secuencia de amino&#xE1;cidos de la prote&#xED;na y c&#xF3;mo lo hacen, seg&#xFA;n la escala del ADN afectado y seg&#xFA;n si afectan a c&#xE9;lulas som&#xE1;ticas o germinales.
Consecuencias de las mutaciones puntuales a nivel molecular
Las mutaciones que afectan a un solo nucle&#xF3;tido se denominan mutaciones puntuales. Cuando las mutaciones puntuales surgen dentro de los genes, sus consecuencias pueden variar en gravedad en funci&#xF3;n de c&#xF3;mo alteren la secuencia de amino&#xE1;cidos codificada. Una mutaci&#xF3;n silenciosa no cambia la secuencia de amino&#xE1;cidos y suele ser neutra. Una mutaci&#xF3;n con cambio de sentido cambia un solo amino&#xE1;cido, y sus efectos pueden ser graves si el cambio altera la funci&#xF3;n de la prote&#xED;na. Una mutaci&#xF3;n sin sentido introduce un cod&#xF3;n de terminaci&#xF3;n, lo que trunca la prote&#xED;na y probablemente hace que deje de ser funcional. Las inserciones o deleciones de nucle&#xF3;tidos pueden causar mutaciones por desplazamiento del marco de lectura si alteran el marco de lectura, lo que afecta a todos los codones posteriores y, a menudo, altera gravemente la funci&#xF3;n de la prote&#xED;na.
Las alteraciones cromos&#xF3;micas son mutaciones a gran escala
El tipo de mutaci&#xF3;n m&#xE1;s dr&#xE1;stico, la alteraci&#xF3;n cromos&#xF3;mica, cambia la estructura o el n&#xFA;mero de cromosomas. Los cambios estructurales pueden incluir deleciones, duplicaciones, inversiones y translocaciones de grandes segmentos de ADN dentro de un &#xFA;nico cromosoma. Las anomal&#xED;as num&#xE9;ricas, como la aneuploid&#xED;a, implican la ganancia o p&#xE9;rdida de cromosomas completos. Las mutaciones cromos&#xF3;micas suelen ser mucho m&#xE1;s graves que las mutaciones puntuales porque afectan a muchos genes y elementos reguladores. Las alteraciones cromos&#xF3;micas pueden detectarse mediante el an&#xE1;lisis del cariotipo de la c&#xE9;lula afectada.
Solo las mutaciones germinales se heredan
Las mutaciones pueden surgir en cualquier c&#xE9;lula, pero solo las mutaciones germinales &#x2014;las presentes en los &#xF3;vulos y espermatozoides&#x2014; pueden transmitirse a la descendencia. Las enfermedades hereditarias son un subtipo de trastornos gen&#xE9;ticos causados por mutaciones germinales perjudiciales. Pueden ser autos&#xF3;micas, cuando afectan a los cromosomas del 1 al 22, o ligadas al sexo, cuando afectan al cromosoma X o Y. Un ejemplo de enfermedad hereditaria es la fibrosis qu&#xED;stica (CF), que afecta principalmente a los pulmones. Est&#xE1; causada por una deleci&#xF3;n en el gen CFTR que elimina un solo amino&#xE1;cido de la prote&#xED;na CFTR. La CF es una enfermedad autos&#xF3;mica recesiva, lo que significa que una persona con una copia mutada del gen y una copia normal no desarrollar&#xE1; la enfermedad. Por otro lado, enfermedades como la enfermedad de Huntington, un trastorno neurodegenerativo, son autos&#xF3;micas dominantes, lo que significa que basta una sola copia mutada del gen para que se desarrolle la enfermedad.
Algunas mutaciones est&#xE1;n causadas por factores ambientales
Tanto las mutaciones som&#xE1;ticas como las mutaciones germinales pueden surgir espont&#xE1;neamente, pero tambi&#xE9;n pueden ser inducidas por agentes ambientales conocidos como mut&#xE1;genos. Entre ellos se incluyen la radiaci&#xF3;n ambiental o sustancias qu&#xED;micas que da&#xF1;an el ADN. Un mut&#xE1;geno ambiental bien caracterizado es la radiaci&#xF3;n ultravioleta (UV). La radiaci&#xF3;n UV induce la formaci&#xF3;n de enlaces covalentes entre bases de timina adyacentes de la misma cadena de ADN, lo que crea d&#xED;meros de timina que distorsionan la estructura del ADN. El Sol es una fuente natural de radiaci&#xF3;n UV. Los rayos UV-C m&#xE1;s perjudiciales son absorbidos por la atm&#xF3;sfera, mientras que los rayos UV-A y UV-B alcanzan la superficie terrestre. Entre las fuentes artificiales de exposici&#xF3;n a los rayos UV se encuentran las camas de bronceado, que transmiten principalmente rayos UV-A y cantidades menores de UV-B.
Afortunadamente, las c&#xE9;lulas cuentan con mecanismos para reparar el ADN da&#xF1;ado, pero a veces el da&#xF1;o no se repara antes de la divisi&#xF3;n celular, especialmente en c&#xE9;lulas que se dividen r&#xE1;pidamente, como las c&#xE9;lulas de la piel, y las mutaciones pueden acumularse. Cuando estas mutaciones afectan a genes que regulan el crecimiento y la divisi&#xF3;n celular, pueden contribuir al desarrollo del c&#xE1;ncer.

Mutaciones

Overview

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

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Education

Educación

JoVE Core

Biología

Genetics

Genética

DNA Structure and Function

Estructura y función del ADN

KEY TERMS AND CONCEPTS

TÉRMINOS Y CONCEPTOS CLAVE

dna changes from point mutations to uv damage

Mutations are changes in the DNA sequence. They can happen by chance during DNA copying, or they can be caused by environmental factors such as radiation and chemicals. Scientists also describe mutations by how much DNA they affect, how they change a protein, and whether they happen in body cells or germline cells.

Some mutations affect only one nucleotide, which is a point mutation. When a point mutation falls inside a gene, the outcome depends on how the amino acid sequence changes. A silent mutation leaves the amino acid the same and usually has no effect. A missense mutation changes one amino acid, and the result can be serious if the protein no longer works well.

Other point mutations can stop protein production early. A nonsense mutation creates a stop codon, which truncates the protein and often makes it nonfunctional. A frameshift mutation happens when nucleotides are inserted or deleted in protein-coding DNA. This shifts the reading frame and changes all downstream codons.

Some mutations are large-scale chromosomal alterations. These changes affect the physical structure of a chromosome and can include deletion, duplication, inversion, or the addition of DNA from another chromosome. Because they can involve many genes and regulatory elements, they are usually more serious than point mutations. Cells with these changes can be identified by karyotyping.

Only germline mutations are inherited. These mutations are present in egg and sperm cells and can pass to offspring, while somatic mutations stay outside the germline. Hereditary diseases are caused by harmful germline mutations. They can be autosomal, on chromosomes 1 through 22, or sex-linked, on the X or Y chromosome.

Cystic fibrosis is one example of a hereditary disease. It affects the lungs and is caused by a deletion in the CFTR gene that removes a single amino acid from the CFTR protein. It is autosomal recessive, so one normal copy can prevent disease. Huntington's disease is another example, and it is autosomal dominant, which means one mutated copy is enough for the disorder to develop.

Mutations can also come from mutagens, which are external agents that damage DNA. Ultraviolet, or UV, radiation is a well-known mutagen. It has more energy than visible light and can create thymine dimers when bases on the same DNA strand bond with each other. The sun is a natural source of UV radiation, and tanning beds are artificial sources that mainly emit UV-A with some UV-B.

Cells can repair DNA damage, but repair is not always complete before cell division. This matters most in rapidly dividing cells such as skin cells. If the damage affects genes that help control cell growth and division, it can contribute to cancer.

DNA Changes From Point Mutations to UV Damage

dna-changes-from-point-mutations-to-uv-damage

the dna helix

How DNA Stores Genetic Information

DNA stores genetic information that is passed from one generation to the next in organisms and most viruses. It is built from two strands of nucleotides that twist together into a double helix. The story of how scientists uncovered this structure developed step by step over nearly a century. Each DNA strand is made of nucleotides. A nucleotide contains the sugar deoxyribose, a phosphate group, and one of four nitrogen bases: adenine (A), guanine (G), cytosine (C), or thymine (T). Adenine and...

dna packaging

Chromatin and Histones in DNA Packing

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organization of genes

Genes, Introns, and Regulatory DNA

Eukaryotic genes are arranged within DNA along with non-coding regions that help control gene activity. A DNA strand includes genes and intergenic regions, which are the stretches between genes. These regions do not code for proteins, but they can contain important regulatory elements such as promoters, enhancers, and silencers. A gene itself is not a single continuous coding block. It usually contains protein-coding exons and non-coding introns. After DNA is transcribed into pre-mRNA in the...

karyotyping

Chromosome Stains for Detecting Disorders

Chromosome staining helps scientists find genetic disorders by showing the number and physical features of chromosomes. These features appear after DNA condenses into chromosomes during mitosis. Cytogeneticists then stop mitosis and stain the chromosomes to study their banding pattern. The pattern reveals details such as chromosome number, shape, and type. A chromosome description like this is called a karyotype. To create one, scientists take an image of the stained chromosomes and identify...

replication in prokaryotes

How Prokaryotic DNA Is Copied

Prokaryotic DNA is copied through a coordinated process with three main stages: initiation, elongation, and termination. It begins when initiator proteins bind to the single origin of replication, or ori, on the cell’s circular chromosome. The DNA then copies around the circle in both directions, starting from two replication forks, and this produces two DNA molecules. Several proteins work together to open and protect the DNA during replication. Topoisomerase cuts one side of the...

replication in eukaryotes

Eukaryotic DNA Copying and Telomeres

Eukaryotic DNA copying is tightly regulated and must duplicate many linear chromosomes before cell division. The process is highly conserved and uses many proteins with specialized roles. It moves through initiation, elongation, and termination, and it ends with two complete sets of chromosomes in the nucleus. Eukaryotic replication shares basic steps with prokaryotic DNA replication, but the larger genome and linear chromosomes require more proteins. Replication begins at multiple origins of...

proofreading

DNA Polymerase Fixes Replication Errors

DNA polymerase helps copy DNA and fix mistakes during replication. It adds nucleotides in a sequence that matches the template DNA strand. The enzyme also has a higher affinity for the correct base, which helps keep DNA replication accurate. As new genomic DNA is made, it is synthesized in the 5’ to 3’ direction. In many cells, DNA polymerases have different jobs in this process. DNA polymerase delta and DNA polymerase epsilon can proofread when nuclear DNA is being copied. These polymerases...

mismatch repair

DNA Mismatch Repair in Replication

DNA mismatch repair fixes copying errors that happen during DNA replication. When DNA polymerase makes a mistake, the cell can detect a wrong base pair, such as A with G or T with C, and replace it with the correct nucleotide. This repair system works in both prokaryotes and eukaryotes and depends on several proteins. The Mutator protein family plays a central role in this process. In bacteria such as Escherichia coli, MutS first binds the mismatch. MutL then helps identify which strand is the...

nucleotide excision repair

DNA Damage Repair by Excision

DNA damage repair by excision protects cells from mutagens that can change DNA. Exposure to environmental mutagens can create bulky lesions that bend the double helix or block transcription. If these changes are not repaired, they can lead to mutations and may contribute to cancer or disease, depending on which DNA sequences are affected. Nucleotide excision repair, or NER, is the process that detects and removes this kind of damage. Specialized proteins scan the DNA for a damaged region, then...

mutations

Mutations are changes in the DNA sequence. They can happen by chance during DNA copying, or they can be caused by environmental factors such as radiation and chemicals. Scientists also describe mutations by how much DNA they affect, how they change a protein, and whether they happen in body cells or germline cells. Some mutations affect only one nucleotide, which is a point mutation. When a point mutation falls inside a gene, the outcome depends on how the amino acid sequence changes. A silent...

transcription

Transcription and Gene Control

Transcription and gene control explain how cells make RNA from DNA and decide which genes are active. RNA polymerase copies a DNA sequence into RNA, and this is the first step in making a protein from a gene. Many other proteins and control sequences help make messenger RNA, or mRNA, correctly. In eukaryotes, the DNA is first copied into a primary RNA, also called pre-mRNA. This RNA can then be processed into mature mRNA, which serves as the template for protein synthesis. In prokaryotes such...

translation

Protein Synthesis and mRNA Decoding

Protein synthesis begins when ribosomes decode messenger RNA (mRNA) and build a chain of amino acids. This final step of gene expression is called translation. The finished chain is a polypeptide, which can later become a functional protein. Proteins are often called the building blocks of life because they make up much of the body, from muscle fibers to hairs and immune system parts. The instructions for each protein are encoded in genes found in the DNA of every cell. In biology, the central...

bacterial transformation

Griffith’s Mouse Experiment and DNA

Bacterial transformation explains how DNA can move into bacteria and change their traits. Frederick Griffith first noticed this in 1928 while studying pneumonia-causing Streptococcus pneumoniae in mice. He compared one pathogenic strain with one non-pathogenic strain and found that only the pathogenic strain killed the host mice. Griffith made an unexpected discovery when he killed the pathogenic bacteria and mixed their remains with live, non-pathogenic bacteria. The mixture killed the mice,...

key terms and concepts

Explore how point mutations, chromosomal alterations, and UV exposure change DNA. Learn which mutations are inherited and how some can lead to disease.

DNA Changes From Point Mutations to UV Damage | JoVE K12

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Life Science

LS.10

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New Jersey Student Learning Standards for Science

HS-LS1-1

Next Generation Science Standards

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New York State Science Learning Standards

Inheritance and Variation of Traits

HS-LS3-1.

Characteristics of Life

Biology is a natural science that studies life and living organisms, including their structure, function, development, interactions, evolution, ...

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Levels of Organization

Biological organization is the classification of biological structures, ranging from atoms at the bottom of the hierarchy to the Earth&#x27;s biosphere. ...

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The Tree of Life - Bacteria, Archaea, and Eukaryotes

Prokaryotic Cells

Prokaryotes are small unicellular organisms that include the domains &#8212; Archaea and Bacteria. Bacteria include many common microorganisms, such as ...

Introduction to Virus

Viruses are unique biological entities that blur the boundary between living and non-living systems. Although they lack cellular structure and metabolic ...

Size and Structure of Viral Genomes

Viral genomes exhibit remarkable diversity in size, structure, and composition, influencing their replication strategies and interactions with host cells. ...

Compare and contrast existing models, identify patterns, and use structural and functional evidence to analyze the characteristics of life. Engage in argument about the designation of viruses as non-living based on these characteristics.
EXPLANATION: Students begin to develop patterns of living and non-living organisms in kindergarten and build on detailed characteristics of different classifications of living organisms throughout elementary and middle school. Biology 1 discussions introduce viral particles and viral cycles, building on student understanding of living organisms to engage in an argument regarding the classification of a viral particle as either living or non-living.

BIO1.LS1.1

What are Cells?

Cells are the smallest and basic units of life, whether it is a single cell that forms the entire organism, e.g., in a bacterium, or trillions of them, ...

Eukaryotic Compartmentalization

One of the distinguishing features of eukaryotic cells is that they contain membrane-bound organelles, such as the nucleus and mitochondria, that carry ...

Eukaryotic Evolution

The endosymbiont theory is the most widely accepted theory of eukaryotic evolution; however, its progression is still somewhat debated. According to the ...

Animal and Plant Cell Structure

Animal and plant cells not only differ in their structure, function, and mode of nutrition but also in how they reproduce, specialize, and organize into ...

Evaluate comparative models of various cell types with a focus on organic molecules that make up cellular structures.
EXPLANATION: Students explicitly discuss the structure and function of major cellular organelles in seventh grade. Building on this understanding, Biology I students should shift their focus to the different types of cells found in organisms and how the role of each cell type relates to its composition and the prevalence of different organelles within that cell. An example might include the absence (or enucleation) of the nucleus in red blood cells in mammals providing for increased levels of oxygen transport in organisms or the lack of centrioles in most neurons. Varying cell types can include both prokaryotic and eukaryotic cell types.

BIO1.LS1.2

Nucleic Acids

Nucleic acids are the most important macromolecules for the continuity of life. They carry the cell&#39;s genetic blueprint and carry instructions for its ...

The DNA Helix

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DNA Base Pairing

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The Central Dogma

The central dogma explains the flow of genetic information from DNA nucleotides to the amino acid sequence of proteins.
RNA is the Missing Link Between ...

DNA Packaging

Overview

Eukaryotes have large genomes compared to prokaryotes. In order to fit their genomes into a cell, eukaryotes must pack their DNA tightly inside ...

Organization of Genes

Overview

The genomes of eukaryotes can be structured in several functional categories. A strand of DNA is comprised of genes and intergenic regions. ...

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by ...

Replication in Prokaryotes

Overview

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

Replication in Eukaryotes

Overview

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

Transcription

Overview
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene ...

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following ...

RNA Structure

Overview
The basic structure of RNA consists of a five-carbon sugar and one of four nitrogenous bases. Although most RNA is single-stranded, it can form ...

RNA Stability

Intact DNA strands can be found in fossils, while scientists sometimes struggle to keep RNA intact under laboratory conditions. The structural variations ...

pre-mRNA Processing

In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or ...

Types of RNA

Overview
Three main types of RNA are involved in protein synthesis: messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). These RNAs ...

MicroRNAs

siRNA - Small Interfering RNAs

Small interfering RNAs, or siRNAs, are short regulatory RNA molecules that can silence genes post-transcriptionally, as well as the transcriptional ...

piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while ...

CRISPR and crRNAs

Bacteria and archaea are susceptible to viral infections just like eukaryotes; therefore, they have developed a unique adaptive immune system to protect ...

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding ...

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Protein Folding

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Conservation of Protein Domains Over Different Proteins

Protein domains are small structurally independent units that are part of a single amino acid chain.&#160; Although these domains are often structurally ...

Globular and Fibrous Proteins

Many proteins can be classified into two distinct subtypes - globular or fibrous. These two types differ in their shapes and solubilities.
Globular ...

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows ...

Protein Complex Assembly

Proteins can form homomeric complexes with another unit of the same protein or heteromeric complexes with different types.&#160; Most protein complexes ...

Conjugated Proteins

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Allosteric Proteins-ATCase

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Amyloid Fibrils

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Cooperative Allosteric Transitions

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Antibody Structure

Phosphorylation

Ligand Binding Sites

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Protein Kinases and Phosphatases

Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, ...

Protein-protein Interfaces

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GTPases and their Regulation

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Conserved Binding Sites

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Covalently Linked Protein Regulators

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The Equilibrium Binding Constant and Binding Strength

The equilibrium binding constant (Kb) quantifies the strength of a protein-ligand interaction. Kb can be calculated as follows when the reaction is at ...

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Protein Complexes with Interchangeable Parts

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Cofactors and Coenzymes

Mechanical Protein Functions

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Allosteric Regulation

Structural Protein Function

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Ligand Binding and Linkage

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Integrate evidence to develop a structural model of a DNA molecule. Using the model, develop and communicate an explanation for how DNA serves as a template for self-replication and encodes biological information.
EXPLANATION: Discussions of DNA in earlier grades have been limited to discussions of genes and the role of genes in the appearance and activities of an organism. Biology 1 represents a student's introduction to a molecular model of a DNA as well as the organization of DNA into genes and genes subsequently into chromosomes. Students should address interactions between genes in proteins which regulate both the shape and reproduction of DNA molecules. It is important to note that not all segments of DNA are transcribed for proteins. Portions of DNA are involved in regulating the expression of genes or affect the structure of the chromosomes (replication origin, centromeres, and telomeres).

DNA Changes From Point Mutations to UV Damage

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