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Terms from Mutations unit of 04-350 at NW

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Term
Definition
show the order of amino acids in a polypeptide which influences all higher levels of structure, determined by the order of codons in the mRNA ORF  
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show shapes within a polypeptide chain due to hydrogen bonds that occur between the amino groups and carboxyl groups of amino acids in the same chain, may be alpha helix or beta pleated sheets  
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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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quaternary structure   show
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mutation   show
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show a mutation that occurs within a cell responsible for producing gametes (sperm or egg) and is therefore passed on to the products of sexual reproduction (offspring)  
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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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show large scale chromosomal mutation that provides additional copies of a segment of a chromosome  
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show general term used to describe a relatively small insertion or deletion within a DNA molecule  
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frameshift   show
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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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transversion   show
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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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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 stop codon instead of an amino acid. results in premature termination, likely producing a non functional protein  
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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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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 the same amino acid as it did prior to the mutation due to redundancy in the genetic code.  
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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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show a mutation that alters the tertiary structure of a polypeptide so that it retains some functional ability but not as much as prior to the mutation, also known as a leaky mutation, may be due to small changes in shape  
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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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allele   show
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forward mutation   show
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reverse mutation   show
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wild type allele   show
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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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intergenic suppression   show
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nonsense suppression   show
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homologous chromosomes   show
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show when homologous chromosomes carry copies of the same allele of a particular gene  
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heterozygous   show
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dominant allele   show
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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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show the enzyme responsible for making new strands of DNA during replication prior to each cell division  
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proofreading   show
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show ability of DNA polymerase to remove nucleotides from the 3' end of the chain if it makes an error during replication, helps to reduce the number of mutations  
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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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deamination   show
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show also known as a transposable element, a segment of DNA that is able to remove itself and insert itself within a chromosome at random  
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induced mutations   show
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show any substance that can cause mutations to occur at higher than the spontaneous rate, include radiation (x rays, uv light) and chemical exposure  
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thymine dimer   show
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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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show chemical that will add small hydrocarbon chains (alkyl groups) to nitrogenous bases, altering their base pairing abilities  
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show mutagen that increases the rate of deamination  
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hydroxylamine   show
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show common test used to identify chemicals that have mutagenic effects  
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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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adenine methylase   show
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hemimethylated   show
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endonuclease   show
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ligase   show
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show ability of single celled prokaryotes and eukaryotes to use the enzyme photolyase to break the bond between thymine dimers, correcting damage caused by uv light  
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nucleotide excision repair   show
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base excision repair   show
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AP site   show
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AP endonuclease   show
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