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Terms from Mutations unit of 04-350 at NW

Quiz yourself by thinking what should be in each of the black spaces below before clicking on it to display the answer.
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Term
Definition
primary structure   show
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secondary structure   show
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alpha helix   show
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beta pleated sheets   show
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tertiary structure   show
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show when multiple polypeptides fuse together to form a functional protein  
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mutation   show
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germinal mutation   show
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show a mutation that occurs within a cell that does not go through meiosis and therefore does not produce gametes. passed on to daughter cells when mitosis occurs but is not transmitted to offspring  
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show elimination of nucleotides within a chromosome, may be small scale (1-2 nt) or large scale (100s-1000s)  
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translocation   show
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inversion   show
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duplication   show
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indel   show
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show a potential consequence of an indel if it occurs in the DNA sequence that will code for a portion of the ORF in the mRNA, alters all downstream codons and produces a nonfunctional protein  
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show replacing one nitrogenous base for another within a DNA strand, also known as a point mutation  
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transition   show
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show a type of base substitution that occurs when a purine replaces a pyrimidine or a pyrimidine replaces a purine  
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show potential consequence of a base substitution that occurs in a sequence coding for an ORF if a codon is altered so that it codes for a different amino acid than it had prior to the mutation  
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nonsense mutation   show
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show a mutation that does not affect the ability of a protein to function, may be due to a mutation outside of the ORF or a mutation in the ORF that alters a codon but it still codes for the same amino acid  
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synonymous mutation   show
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show mutation that significantly alters the tertiary structure of a polypeptide so that it completely loses its ability to carry out its normal functional abilities, usually a recessive mutation  
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amorphic mutation   show
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show another term for a loss of function mutation  
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partial loss of function mutation   show
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show another term for a partial loss of function or leaky mutation  
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show a mutation that alters the tertiary structure of a polypeptide so that it functions better than it did before the mutation  
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hypermorphic mutation   show
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show a mutation that alters the tertiary structure of a polypeptide so that it loses its previous ability but now has a different reaction or ability that it can perform, usually a dominant mutation  
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show another term for a gain of function mutation  
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neutral mutation   show
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show a version of a gene generated as a result of mutations taking place  
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show altering a wild type allele so that it is now mutant  
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reverse mutation   show
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show a "normal" version of a gene  
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suppression   show
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show a second mutation within the same gene that corrects for the effects of the first  
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show a second mutation within a second gene that corrects for the effects of a first mutation in a different gene  
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nonsense suppression   show
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show chromosomes that are copies of one another but may not be exactly identical for all alleles on those chromosomes  
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homozygous   show
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heterozygous   show
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show a version of a gene that codes for a protein that is able to function normally (wild type) or in a new way due to a gain of function mutation  
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recessive allele   show
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show a mutation due to natural events in the cell with no external cause  
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DNA polymerase   show
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show the ability of a polymerase to correct errors that it makes, highly effective in DNA polymerase but minimal in RNA polymerase  
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3' to 5' exonuclease   show
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show cause of replication error spontaneous mutations, due to improper pairing between two strands of nucleic acid when the same base or same series of bases is repeated, results in indel mutations  
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depurination   show
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show spontaneous chemical damage to the DNA molecule when an amino group is lost from one of the nitrogenous bases, altering its ability to hydrogen bond with complementary bases  
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transposon   show
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induced mutations   show
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mutagen   show
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show covalent bond that forms between adjacent thymines in the same DNA strand, alter the shape and hinder proper base pairing with complementary bases, due to uv light exposure  
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show artificial substances with chemical structures similar to natural nitrogenous bases but may have altered base pairing rules, a type of chemical mutagen  
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alkylating agents   show
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show mutagen that increases the rate of deamination  
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show mutagen that may alter cytosine so it will pair with adenine  
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ames test   show
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show DNA repair mechanism used by the cell to identify and correct improper base pairing caused by replication errors  
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show enzyme that adds methyl group to adenine anywhere the sequence GATC is found, resulting in the ability to distinguish old and new strands of DNA for a short period of time  
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show when only one of two strands of DNA has been methylated, state for a short time immediately after replication  
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show enzyme able to cut DNA in the middle of the molecule, breaking phosphodiester bonds  
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ligase   show
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photoreactivation   show
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nucleotide excision repair   show
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show repair mechanism used to remove chemically damaged bases by removing the damaged base by cutting the glycosidic bond, creates an AP site which is then repaired  
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AP site   show
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show enzyme that repairs AP sites generated by base excision or spontaneous depurination  
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