Terms from Mutations unit of 04-350 at NW
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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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