LIFESCI 2G03 Questions and Answers Test 1
mutation - Answers a change in the DNA sequence
germline mutation - Answers heritable, occurs in germ-line cells, and is passed on/present in all cells of the progeny
somatic mutation - Answers non heritable, does not occur in germ-line cells, is not pas...
germline mutation - Answers heritable, occurs in germ-line cells, and is passed on/present in all cells of
the progeny
somatic mutation - Answers non heritable, does not occur in germ-line cells, is not passed onto progeny,
is passed onto all descendants of that cell
what regions of the DNA are affected by germline and somatic mutations, respectively? - Answers both
types of mutations may affect the protein coding regions or the non-coding regions
what is the effect of mutations in protein coding regions? - Answers affects the polypeptide sequence,
and may impact protein function
what is the effect of mutations in non-coding regions? - Answers in non-coding RNA: impacts gene
expression
in introns: impacts polypeptide sequence
wildtype allele - Answers the more abundant allele
mutant allele - Answers the more rare allele
loss of function mutation + the 2 types - Answers reduces or abolishes protein function.
1. null (amorphic): complete loss of protein function
2. hypomorphic: incomplete, reduced activity
gain of function mutation + the 3 types - Answers increased activity or new function; or expression in the
wrong place/time
1. hypermorphic: more protein or increased activity
2. neomorphic: generates a new function
3.dominant negative/anti-morphic: prevents the normal protein from performing its homeostatic
function
are loss-of-function and gain-of-function mutations usually dominant or recessive? - Answers -loss of
function: can be either
-gain of function: almost always dominant
Tp53 - Answers transcription factor that acts as the gatekeeper of cell cycle progression; stopping the
cell cycle if there is DNA damage; tumor suppressor
, what is Tp53 supposed to do when there is damaged DNA? - Answers promote apoptosis genes,
promote DNA repair genes, and inhibit cell cycle genes
DBD + function - Answers the DNA binding domain, important for Tp53 to bind to DNA and regulate
transcription
What happens when there is a loss of function of DBD? - Answers reduction in DNA binding capacity,
abolished gene expression, increased proliferation of mutated cells
what type of mutation causes a mutant p53 protein? - Answers dominant negative/anti-morphic
mutation
what happens when there is a mutant p53 protein? - Answers -suppresses the function of wild type p53
-does the opposite of what's supposed to happen: inhibits apoptosis genes, inhibits DNA repair genes,
and promotes cell cycle genes
spontaneous mutation - Answers occurs randomly with no known cause
induced mutation - Answers arises due to exposure to mutagenic agents and radiation
what happens more often, spontaneous or induced mutations? - Answers induced
point mutation + types - Answers change in a single nucleotide, or a few base pairs. types: substitution,
deletion, insertion
chromosomal rearrangement - Answers large deletions, insertions, inversions, or translocations. at the
chromosomal level, sometimes deletions and insertions happen together
aneuploidy - Answers changes in chromosome number
3 types of point mutations - Answers 1. nonsense
2. missense
3. silent
nonsense mutation - Answers codes for a stop codon
missense mutation - Answers codes for a different amino acid, resulting in a nonfunctional protein, or a
protein with a different function
silent mutation - Answers code for the same or different amino acid, but there is no functional change in
the protein
what is tautomeric shift? - Answers the sudden change to a tautomer, a transient isomeric form of a
nitrogenous base
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