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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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secondary structure   show
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alpha helix   show
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beta pleated sheets   show
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show the overall three dimensional shape of a polypeptide, formed due to chemical interactions between R groups in the polypeptide. interactions may be covalent, hydrogen bonding, ionic, hydrophobic interactions, or van der Wals forces.  
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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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somatic mutation   show
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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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show large scale chromosomal mutation that reverses a segment of a chromosome  
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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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base substitution   show
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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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silent mutation   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 the same amino acid as it did prior to the mutation due to redundancy in the genetic code.  
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loss of function mutation   show
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show another term for a loss of function mutation, implying complete loss of shape (morph)  
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null mutation   show
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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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hypomorphic mutation   show
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increase of function mutation   show
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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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neomorphic mutation   show
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neutral mutation   show
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allele   show
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forward mutation   show
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show altering a mutant allele so that normal function is restored by converting it back to a wild type allele  
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show a "normal" version of a gene  
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suppression   show
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intragenic suppression   show
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intergenic suppression   show
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show a type of intergenic suppression where a mutation in a tRNA gene creates an anticodon that is able to bind to a codon that normally serves as a stop... therefore correcting for a nonsense mutation  
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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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show when homologous chromosomes carry copies of different alleles of a particular gene  
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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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DNA polymerase   show
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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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show spontaneous chemical damage to the DNA molecule when a glycosidic bond is broken between a purine (A or G) and the 1' carbon, results in a hole in the double stranded DNA helix  
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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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show mutations caused by some substance (mutagen) external to the cell, occurs at a rate higher than spontaneous mutations  
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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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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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show chemical that will add small hydrocarbon chains (alkyl groups) to nitrogenous bases, altering their base pairing abilities  
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nitrous acid   show
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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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adenine methylase   show
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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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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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show repair mechanism used to remove thymine dimers by recognizing the abnormal shape created by the dimer and cutting the DNA on either side to remove multiple nucleotides, creating a single stranded segment in the DNA molecule that then must be repaired  
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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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show apurinic site, when a purine is lost from a double stranded DNA molecule, leaving a gap in the middle of the helix  
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show enzyme that repairs AP sites generated by base excision or spontaneous depurination  
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