Replications + Mutations in DNA

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33 Terms

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initiation

the DNA double helix “unwinds” (or denatures)

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DNA helicase

an enzyme that “unzips” the DNA by acting as a wedge to drive it apart

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replication fork

a point at which a DNA molecule is replicating

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ATP hydrolysis

ATP is broken down and releases energy which is used by cells to perform various functions

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topoisomerase

breaks the sugar-phosphate backbone of DNA, allowing the strands of DNA to untwist, then reforming it

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goal of DNA replication

to generate two daughter molecules from each parent DNA molecule

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primer

a strand of nucleic acid that is necessary to begin synthesis of a new DNA strand (usually RNA)

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primase

an RNA enzyme that starts the synthesis of an RNA primer, using a DNA template

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polymerase

an enzyme that synthesizes nucleic acid polymers

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elongation

synthesize a new strand of DNA

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leading strand

synthesized continuously

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lagging strand

synthesized discontinuously; has multiple RNA primers

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Okazaki fragment

newly formed DNA making up the lagging strand in replication

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DNA ligase

links together Okazaki fragments together to give a continuous strand and unites broken DNA strands

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telomeres

repeated DNA sequences at the ends of eukaryotic chromosomes, allows chromosomes to be extended at the ends + triggers repair pathways

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incorporation error rate

the probability that an incorrect base will be inserted into a new strand during DNA replication

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proofreading

DNA polymerase excises a base that is incorrectly inserted according to the template

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mismatch repair

a mechanism that scans DNA after it has been replicated and corrects any mismatches

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base-pair substitutions

a change of a single base pair in a nucleotide sequence

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point mutation

a mutation that results from the gain, loss, or substitution of a single nucleotide

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spontaneous mutations

a genetic change caused by internal cellular mechanisms (errors in DNA replication)

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mutagens

any agent that increases mutation rate

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induced mutations

changes in the sequence of DNA caused by a mutagen

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excision repair proteins

Definition:

recognize the distortions in the DNA helix, excise incorrect segments, and facilitate the synthesis of the correct DNA sequence

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silent mutations

a change in the gene sequence that has no effect on the amino acid sequencing

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loss-of-function mutations

results in the loss of a functional protein

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gain of function mutations

results in a protein with a new function

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conditional mutations

a mutation that results in a characteristic phenotype under certain conditions environmentally

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deletions

a mutation resulting from the loss of a continuous segment of a gene or chromosome

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duplications

mutation in which a segment of a chromosome is duplicated

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inversions

a rare 180 reversal of the order of genes within a segment of a chromosome

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translocations

segments of chromosomes break off and become joined to different chromosomes

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nonhomologous end joining

a repair pathway that functions to join together the two ends of a broken chromosome