DNA mutations can occur through DNA damage from environmental agents like UV light or mistakes during DNA replication. There are different types of mutations such as point mutations, frameshift mutations, deletions, insertions, inversions, and DNA expression mutations. Point mutations are either transitions which don't change the amino acid or transversions which do. Mutations can be silent, nonsense which add stop codons, or missense which change the amino acid.
DNA mutations can occur through DNA damage from environmental agents like UV light or mistakes during DNA replication. There are different types of mutations such as point mutations, frameshift mutations, deletions, insertions, inversions, and DNA expression mutations. Point mutations are either transitions which don't change the amino acid or transversions which do. Mutations can be silent, nonsense which add stop codons, or missense which change the amino acid.
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DNA mutations can occur through DNA damage from environmental agents like UV light or mistakes during DNA replication. There are different types of mutations such as point mutations, frameshift mutations, deletions, insertions, inversions, and DNA expression mutations. Point mutations are either transitions which don't change the amino acid or transversions which do. Mutations can be silent, nonsense which add stop codons, or missense which change the amino acid.
Copyright:
Attribution Non-Commercial (BY-NC)
Available Formats
Download as PPT, PDF, TXT or read online from Scribd
each person has slight differences in their physical make up — and therefore in their DNA. • These subtle variations in DNA are called polymorphisms (literally "many forms"). • Many of these gene polymorphisms account for slight differences between people such as hair and eye color. DNA MUTATIONS
• But some gene variations may result in
disease or an increased risk for disease.
• Although all polymorphisms are the result
of a mutation in the gene, geneticists only refer to a change as a mutation when it is not part of the normal variations between people. What Causes DNA Mutations?
• Mutations in DNA sequences generally
occur through one of two processes: – DNA damage from environmental agents such as ultraviolet light (sunshine), nuclear radiation or certain chemicals – Mistakes that occur when a cell copies its DNA in preparation for cell division. DNA damage from environmental agents DNA damage from environmental agents
• Modifying nucleotide bases
– Ultraviolet light, nuclear radiation, and certain chemicals can damage DNA by altering nucleotide bases so that they look like other nucleotide bases. DNA damage from environmental agents
• When the DNA strands are separated and
copied, the altered base will pair with an incorrect base and cause a mutation. In the example below a "modified" G now pairs with T, instead of forming a normal pair with C. DNA damage from environmental agents DNA damage from environmental agents
• Breaking the phosphate backbone
• Environmental agents such as nuclear radiation can damage DNA by breaking the bonds between oxygens (O) and phosphate groups (P). • Breaking the phosphate backbone of DNA within a gene creates a mutated form of the gene. It is possible that the mutated gene will produce a protein that functions differently. DNA damage from environmental agents
• Breaking the phosphate backbone
• Cells with broken DNA will attempt to fix the broken ends by joining these free ends to other pieces of DNA within the cell. • This creates a type of mutation called "translocation." If a translocation breakpoint occurs within or near a gene, that gene's function may be affected DNA damage from environmental agents
• Breaking the phosphate backbone
Mistakes created during DNA duplication – Prior to cell division, each cell must duplicate its entire DNA sequence. This process is called DNA replication. – DNA replication begins when a protein called DNA helicase separates the DNA molecule into two strands. Mistakes created during DNA duplication • Next, a protein called DNA polymerase copies each strand of DNA to create two double-stranded DNA molecules. • Mutations result when the DNA polymerase makes a mistake, which happens about once every 100,000,000 bases. Mistakes created during DNA duplication How Do Mutations Occur? • Copying errors are introduced when DNA replicates itself. – Everyone acquires some changes to their DNA during the course of their lives. – Sometimes there are simple copying errors that are introduced when DNA replicates itself. – Other changes are introduced as a result of DNA damage through environmental agents including sunlight, cigarette smoke, and radiation. How Do Mutations Occur? • Copying errors are introduced when DNA replicates itself. – Our cells have built in mechanisms that catch and repair most of the changes that occur during DNA replication or from environmental damage. – As we age, however, our DNA repair does not work as effectively and we accumulate changes in our DNA. How Do Mutations Occur? • Germline mutations are what cause diseases to run in families. – other errors can occur in the DNA of cells that produce the eggs and sperm. – These are called germline mutations and can be passed from parent to child. If a child inherits a germline mutation from their parents, every cell in their body will have this error in their DNA. How Do Mutations Occur? • Germline mutations are what cause diseases to run in families.
– Germline mutations are what cause diseases
to run in families, and are responsible for the kind of hereditary diseases covered by Genetic Health. What Kind of Mutations Are There? • A gene is essentially a sentence made up of the bases A, T, G, and C that describes how to make a protein. • Any changes to those instructions can alter the gene's meaning and change the protein that is made, or how or when a cell makes that protein. • There are many different ways to alter a gene, just as there are many different ways to introduce typos into a sentence. • In the following examples of some types of mutations, we use the sentence "The fat cat ate the wee rat" as a sample gene: What Kind of Mutations Are There? • Point Mutation • Frame-shift mutation • Deletion • Insertion • Inversion • DNA expression mutation What Kind of Mutations Are There? • Point Mutation – A point mutation is a simple change in one base of the gene sequence. This is equivalent to changing one letter in a sentence, such as this example, where we change the 'c' in cat to an 'h':
• Original The fat cat ate the wee rat.
• Point Mutation The fat hat ate the wee rat. What Kind of Mutations Are There? • Frame-shift mutation – In a frame shift mutation, one or more bases are inserted or deleted, the equivalent of adding or removing letters in a sentence. – But because our cells read DNA in three letter "words", adding or removing one letter changes each subsequent word. – This type of mutation can make the DNA meaningless and often results in a shortened protein. • An example of a frame-shift mutation using our sample sentence is when the 't' from cat is removed, but we keep the original letter spacing: – Original The fat cat ate the wee rat. – Frame Shift The fat caa tet hew eer at. What Kind of Mutations Are There? • Deletion Mutations that result in missing DNA are called deletions. • These can be small, such as the removal of just one "word," or longer deletions that affect a large number of genes on the chromosome. • Deletions can also cause frameshift mutations. In this example, the deletion eliminated the word cat. – Original The fat cat ate the wee rat. – Deletion The fat ate the wee rat. What Kind of Mutations Are There? • Insertion – Mutations that result in the addition of extra DNA are called insertions. – Insertions can also cause frameshift mutations, and general result in a nonfunctional protein. • Original The fat cat ate the wee rat. • Insertion The fat cat xlw ate the wee rat. What Kind of Mutations Are There? • Inversion – In an inversion mutation, an entire section of DNA is reversed. – A small inversion may involve only a few bases within a gene, while longer inversions involve large regions of a chromosome containing several genes. • Original The fat cat ate the wee rat. • Insertion The fat tar eew eht eta tac. What Kind of Mutations Are There? • DNA expression mutation There are many types of mutations that change not the protein itself but where and how much of a protein is made. • These types of changes in DNA can result in proteins being made at the wrong time or in the wrong cell type. • Changes can also occur that result in too much or too little of the protein being made. POINT MUTATIONS • TRANSITION MUTATION – Pur Pur – Pyr pyr • TRANSVERSION MUTATION – Pur Pyr – Pyr Pur CONSEQUENCES OF ALTERING THE NUCLEOTIDE SEQUENCE • SILENT MUTATIONS – UUU (Phe) UUC (Phe) – DNA mutation did not change the amino acid • NONSENSE MUTATIONS – UGG(Try) UGA (stop) – DNA Mutation resulted to addition of stop codons
• MISSENSE MUTATIONS – UUC (Phe) UUA (Leu) – DNA Mutation resulted to a different amino acid