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Mutagen
things that cause errors in DNA; UV radiation, chemicals, viruses, reaction oxygen species (ROS)
Transition mutation
a nucleotide mutation that turns a purine into another purine or a pyrimidine into another pyrimidine
Transversion
a nucleotide mutation that turns a purine into a pyrimidine or the other way around
Double mutation
2 mutations occurring near each other
Reversion mutation
a mutation that reverts a mutation to being unmutated, undoes a mutation
Chromosomal inversion
a piece of a chromosome flips
Chromosomal translocation
a piece of a chromosome joins a different chromosome
Chromosomal deletion
a piece of a chromosome is deleted
Chromosomal insertion
an extra piece of a chromosome is inserted
De Novo mutation
a mutation that is not previously in a genome
Multiple sequence alignment (MSA)
a way to look at protein sequences by looking at residues or amino acids, comparing different species, a way to look at evolution
Silent mutation
a mutation with no phenotypic effect
Loss of function mutation
a mutation that causes a protein to lose its function
Gain of function mutation
a mutation that causes something new to happen, a new function, or overproduction
Hot spots
locations with many mutations
mutations
All errors in DNA are ________
About __ _______________bases are incorrectly added by DNA polymerase
1 in every 100,000
DNA polymerase has an ___________ ability to remove incorrect nucleotides
exonuclease
DNA acts as its own _________
repair manual
________________ incorrectly added bases aren’t fixed
1 in 10,000
Mismatch repair enzymes (MMR)
goes back through replicated DNA to find and fix mistakes
MMR has an ___________ function
endonuclease
Mismatch pairs create __________ in DNA that are seen by repair enzymes
bumps
____________ fills holes made by the MMR
DNA polymerase
__________ seals the gaps made from base removal and repair
Ligase
Excision repair
repair completed by endonucleases to fix damage from mutagens, also involves DNA polymerase and ligase
Transcription and translation are specially separated by _____________
organelles
RNA is ____________
single-stranded
Pre-mRNA ___________ before leaving the nucleus
matures
Translation begins in the ____________
cytoplasm
Proteins go through _____________________________ before they are complete and ready for function
post-translational modification
Translation has 3 main steps ________________________________
initiation, elongation, and termination
The ribosome is the location of ________________________
all modifications in translation
Amino acids
protein building blocks, 20 of them, 21 in eukaryotic organisms
Transcriptome
all the mRNA in a cell or organism at a certain time
Proteogenic
the amino acids that are directly coded from the codon table
RNA polymerase is recruited to a ______________ to transcribe a specific gene or dsDNA
particular gene
Promoter
in every organism, specific dsDNA sequences, non mRNA coding, that indicate the beginning of genes
Transcription factors
proteins that bind to both RNA polymerase and DNA to help the RNA polymerase bind
RNA polymerase has a _____________ function in translation
helicase
RNA polymerase ______________ the double helix in translation
unwinds
Synthesis always occurs ___________
5’ to 3’
The transcript
the newly made mRNA
DNA template
the DNA strand that is read and built from, read 3’ to 5’
Coding/ complementary strand
the strand that is the same as mRNA with Ts instead of Us
DNA takes __________ to rewind
no energy
5’ and 3’ UTR
the untranslated region, the DNA between the transcription start site and the start codon
Termination site
where transcription stops
Termination complex
a location on mRNA that ends translation
Release factors
bind to the stop codon and remove everything from the mRNA
Genetic code
the informational key by which a sequence of nucleotides corresponding to a gene is translated into the sequence of amino acids composing the protein expressed by that gene
Codon
a group of 3 nucleotides which specify a particular amino acid
Genetic code is redundant meaning ________________________________________________
more codons than there are amino acids
Genetic code is universal and ______________________
identical across multiple species
3 primary end modifications include _____________________________________________
pre-mRNA capping, splicing, and pre-mRNA tailing
The GTP cap can be added after the mRNA ______________________________________________
exits the RNA polymerase
Splicing can begin as the ______________________________
1st exon moves through the RNA polymerase
Pre-mRNA tailing can be added _____________________________________________
after the last exon leaves the RNA polymerase
GTP cap
a protective sequence that is added 5’ to 5’ to the mRNA
The GTP cap protects mature mRNA from being degenerated by ____________________
nucleases
Ribosomes _______________ to the GTP cap
locate and bind
Proteins that ______________________ bind to the GTP cap
assist or disable translation
LARP
a protein that binds to the GTP cap assisting or disabling translation
Poly-adenyline (A) tail
a sequence of AAUAAA added to the end of a eukaryotic mRNA, contributes to the protection and stability of mRNA
The poly-adenyline tail is added to the ______________ eukaryotic mRNA
3’ end of
Poly-adenyline binding proteins
bind to the poly-A tail which can stimulate translation
Intron
non-coding regions of mRNA
Exon
the coding part of mRNA, end up spliced together
Mature mRNA has _________________________________
UTRs, a start codon, exons, and a stop codon
Not mature mRNA has _______________________
a promoter, introns, and a terminator
Splice sites
boundaries between introns and exons where introns are removed and exons are spliced together
____________ cut introns out of mRNA
Endonucleases
RNA splicing
the removal of introns from pre-mRNA resulting in much smaller mature mRNA
Splicing uses a _________________
looping process
Alternative splicing
the mix and matching of exons during splicing, can create multiple different mRNAs
Isoforms
different proteins made from 1 gene, made by alternative splicing
Small nuclear ribonucleic proteins (snRNPs)
proteins that form loops in introns and splice exons
snRNPs are small _________ proteins
ribonucleic
snRNPs have ______________ to the splice site
RNA complementary
Ribozymes
RNA with catalytic ability
Ribosomes are comprised of a _________________
small and a large subunit
Ribosomes are mostly made up of ___________
RNA
Initiation complex
where the small ribosomal subunit binds, the large subunit binds opposite completing the complex
A ribosome has 3 sites that are _____________
E, P, and A
The large subunit has ______________
catalytic RNA
The mRNA enters the ribosome __________
A site
The mRNA leaves the ribosome ____________
E site
Polysome
multiple ribosomes bound to one mRNA
Shine Dalgarno sequence
a ribosomal binding site in prokaryotes, helps the ribosome stabilize on the mRNA
The Shine Dalgarno sequence is located _______________________
upstream of the start codon
Every Eukaryotic cell has _________________
every gene
Genome
all of the DNA in a cell or organism
Proteome
all the proteins in a cell or organism at a certain time
Gene expression
which cells turn on transcription and how much
Gene regulation
the process of determining the amount and timing of RNA production and transcription
Regulation
a dynamic process of modulating production, modification, and targeting of RNA and proteins
Transcriptional regulation
the dynamic start and stop of transcription
Protein regulation
modification of post-translational modifications, like protein folding
Leaky expression
low level or rare expression of a not-needed gene
Housekeeping genes
genes that are usually on, have high-affinity promoters, do not need activators