A frameshift mutation is a particular type of mutation that involves either insertion or deletion of extra bases of DNA Now, what's important here is the number three The number of bases that are either added or subtracted can't be divisible by three And that's important because the cell reads a gene in groups of three basesINSERTION One or more extra nucleotides are inserted or added into the replicating DNA, often resulting in frameshift As a result, the protein made by the gene may not function properly DELETION Changes the number of DNA bases by removing a piece of DNAPoint mutation Insertion One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift One form of betathalassemia Deletion One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted
Chapter 12 Dna Damage And Repair Chemistry
One or more extra nucleotides are inserted into replicating dna often resulting in a frameshift
One or more extra nucleotides are inserted into replicating dna often resulting in a frameshift-• Inserts or Deletes in a number of nucleotides in the specific site at which splicing of an intron takes place during the processing of precursor mRNA into mature mRNA • The abolishment of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of aberrant proteins Frameshift mutations are insertions or deletions in the genome that are not in multiples of three nucleotides They are a subset of insertiondeletion (indel) mutations that are specifically found in the coding sequence of polypeptides Here the number of nucleotides that are added or removed from the coding sequence are not multiples of three
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As a result, during DNA replication, DNA polymerase may either skip replicating several nucleotides (creating a deletion) or insert extra nucleotides (creating an insertion) Either outcome may lead to a frameshift mutationDNA replication, DNA polymerase may either skip replicating several nucleotides (creating a deletion) or insert extra nucleotides (creating an insertion) Either outcome may lead to a frameshift mutation Combustion products like polycyclic aromatic hydrocarbons are particularly dangerous intercalating agents that can lead to mutationcausedInsertions add one or more extra nucleotides into the DNA They are usually caused by transposable elements , or errors during replication of repeating elements Insertions in the coding region of a gene may alter splicing of the mRNA ( splice site mutation ), or cause a shift in the reading frame ( frameshift ), both of which can significantly alter the gene product
DNA replication is a highly accurate process, but mistakes can occasionally occur, such as a DNA polymerase inserting a wrong base Uncorrected mistakes may sometimes lead to serious consequences, such as cancer Repair mechanisms correct the mistakes In rare cases, mistakes are not corrected, leading to mutations; Classification of Mutation Types By Effect on Structure Point mutations, often caused by chemicals or malfunction of DNA replication, exchange a single nucleotide for another (eg, conversion of adenine A into a cytosine C) Insertions, add one or more extra nucleotides into the DNA An insertion mutation involves the addition of one (or more) nucleotide base pairs into the DNA sequence Insertion mutations can vary in size, ranging from the insertion of just one base pair into the DNA sequence to the insertion of a section of a chromosome into another chromosome The end result is a potentially malfunctioning protein
Frameshift mutations are insertions or deletions of nucleotides in DNA that change the reading frame (the grouping of codons) and create mistakes during DNA synthesis The dangers of any mutation usually include An abnormally transcribed DNA sequence (mRNA) Resulting abnormal translated proteinDNA replication is called semiconservative because the two resulting DNA molecules each have one new DNA strand and one old strand from the original DNA molecule An extra three nucleotides inserted into a gene will cause a frameshift mutation False Point mutation occurs when a single nucleotide base is substituted, inserted or deleted entirely inside one gene Point mutations have a variety of effects on the final protein product— there can be no effect on the protein sequence (silent mutations) to deleterious effects (nonsense/missense mutations/frameshift mutation) a) Substitution
Chapter 12 Dna Damage And Repair Chemistry
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As a result, during DNA replication, DNA polymerase may either skip replicating several nucleotides (creating a deletion) or insert extra nucleotides (creating an insertion) Either outcome may lead to a frameshift mutation Combustion products like polycyclic aromatic hydrocarbons are particularly dangerous intercalating agents that can lead Insertion One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift One form of betathalassemia Deletion One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted When the substitution results in a stop codon being inserted, this is called a "nonsense mutation" I remember this by thinking that "nonsense" is similar to saying "no more", so the protein is ended Insertion and deletion mutations can result in frameshift mutations, when the reading frame of the gene is changed
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A DNA mismatch is generated by the misincorporation of a base during DNA replication MutSα recognizes basebase mismatches MutLα nicks the 3′ or 5′side of the mismatched base on the discontinuous strand The resulting DNA segment is excised by the EXO1 exonuclease, in cooperation with the singlestranded DNAbinding protein RPAOne or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift Example Cystic fibrosisA DNA repair system that recognizes bulges in the DNA double helix, removes the damaged strand, and replaces it extragenic suppression Reversion of a mutation by a second change that is within a different gene frameshift Mutation in which the reading frame of a proteinencoding gene is altered by insertion or deletion of one or a few bases
Chapter 12 Dna Damage And Repair Chemistry
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As a result, during DNA replication, DNA polymerase may either skip replicating several nucleotides (creating a deletion) or insert extra nucleotides (creating an insertion) Either outcome may lead to a frameshift mutation Combustion products like polycyclic aromatic hydrocarbons are particularly dangerous intercalating agents that can lead One or more extra nucle otides are inserted into replicating DNA, often resulting in a frameshift_____2 One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift_____3 One base is incorrectly added during replication and replaces/ substituted the pair in the corresponding position onOn the complementary strand Sicklecell anemia Insertion One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift One form of betathalassemia Deletion One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift Cystic fibrosis
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Substitution One base is incorrectly added during replication and replaces the pair in the corresponding position on the complementary strand Insertion One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift Deletion One or more nucleotides is "skipped" during replication A frameshift mutation is a deletion or insertion of one or more nucleotides that changes the reading frame of the base sequence Deletions remove nucleotides, and insertions add nucleotides Consider the following sequence of bases in RNA AUGAAUACGGCU = methionineasparaginethreoninealanine Now assume that an insertion occurs in thisInsertion One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift One form of betathalassemia Deletion One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted
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Answer to Compare and contrast Illumina sequencing and Ion Torrent sequencing(10 marks) Compare and contrast Sanger sequencing and Illumina Sequencing (10A deletion, resulting in a frameshift, results when one or more base pairs are lost from the DNA (see Figure above) If one or two bases are deleted the translational frame is altered resulting in a garbled message and nonfunctional product A deletion of three or more Generally, a single base pair deletion shifts the entire gene It leads to a frameshift mutation which changes all of the original triplet codons producing a completely nonfunctional gene Three or more nucleotides removing from a gene can result in a different amino acid sequence producing functional defects in the final protein
Chapter 12 Dna Damage And Repair Chemistry
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A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the way the sequence is read Therefore, frameshift mutations result in abnormal protein products with an incorrect amino acid sequence that can be either longer or shorter than the normal proteinPoint mutations involve changes in one or a few nucleotides This is because they occur at a single point in the DNA sequence They generally occur during replication Frameshift mutations shift the reading frame for every amino acid that comes after the mutated area If a gene in one cell is altered, the alteration can be passed on to every cell that develops from the original one Mutation Mutations result from damage to DNA which is not repaired, errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements Insertions add one or more extra nucleotides into the DNA They are usually caused by transposable elements, or errors during replication of repeating elements
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Insertions add one or more extra nucleotides into the DNA They are usually caused by transposable elements, or errors during replication of repeating elements (eg AT repeats) Insertions in the coding region of a gene may altersplicing of the mRNA (splice site mutation), or cause a shift in the reading frame (frameshift), both of which canINSERTION (an extra base is inserted) missense, silent or nonsense (hint deletion or insertion will always be frameshift) Original DNA Sequence T A C A C C T T G G C G A C G A C T Name one amino acid that has more than one codon Name one amino acid that has only one codon 3 Look at the following sequence THE FAT CAT ATE THE RATIn other cases, repair
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Effects of Mutations on DNA Sequence There are several types of mutations that are classified according to how the DNA molecule is altered One type, called a point mutation, affects a single base and most commonly occurs when one base is substituted or replaced by anotherMutations also result from the addition of one or more bases, known as an insertion, or the removal of one or moreSmallscale mutations, such as affecting a small gene is one or a few nucleotides, including Point mutations, often caused by chemicals or malfunction of DNA replication, exchange a single nucleotide for another Most common is the transition that exchanges a purine for a purine (A ↔ G) or a pyrimidine for a pyrimidine, (C ↔ T)B They change the nucleotide sequence of a gene but do not change the sequence of the resulting protein c They result in the insertion or deletion of a small number of nucleotides to the DNA d They convert a codon for a particular amino acid within a gene into a stop codon e They cannot revert or back mutate to wildtype
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One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift deletion mutation One or more nucleotides is "skipped" during replication or otherwise excised, often resulting in a frameshift If an insertion or deletion consists of nucleotides numbering a factor of 3, then a frameshift will not occur It's also important to note that insertions and deletions can cause nonsense mutations there are two types of frame shift mutations They are insertions and deletions Insertions involve the insertion of one of more extra nucleotides into a DNA chain Why is it called a missense mutation?
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A frameshift mutation, an alteration in the normal reading frame of a gene, results if the number of inserted nucleotides is not divisible by three, ie, the number of nucleotides per codon Frameshift mutations will alter all the amino acids encoded by the gene following the mutation In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence This can often happen in microsatellite regions due to the DNA polymerase slipping On a chromosome level, an insertion refers to the insertion of a larger sequence into a chromosomeA missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein
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