Final Review

244 flashcardsby Vincent
Study these flashcardsFree · spaced repetition · iPhone, Android, Mac & web

All cards

1
What is the purpose of translation?
To convert mRNA sequence into an amino acid sequence using ribosomes, tRNAs, and translation factors.
2
Where does translation occur in eukaryotic cells?
In the cytoplasm, on free ribosomes or on ER-bound ribosomes.
3
What are the functional sites of the ribosome?
A site (Aminoacyl), P site (Peptidyl), and E site (Exit).
4
What is the role of 16S rRNA in prokaryotes?
It ensures correct codon-anticodon pairing.
5
What initiates translation in prokaryotes?
Binding of the 30S subunit to mRNA and initiator tRNA carrying fMet.
6
What is the Shine-Dalgarno sequence?
A sequence in prokaryotic mRNA that positions the ribosome at the start codon.
7
What is the role of eIF4E in eukaryotic translation initiation?
It binds to the 5′ cap of mRNA to facilitate translation.
8
What is the function of the 43S pre-initiation complex?
It includes the 40S subunit and initiator tRNA for mRNA scanning.
9
What is the role of EF-Tu in elongation?
It guides aminoacyl-tRNA into the A site.
10
What catalyzes peptide bond formation?
The peptidyl transferase activity of rRNA.
11
What are the stop codons?
UAA, UAG, UGA.
12
What is the function of release factors?
They bind stop codons and release the polypeptide.
13
What are polyribosomes?
Clusters of ribosomes translating the same mRNA simultaneously.
14
How do prokaryotic and eukaryotic ribosomes differ?
Prokaryotic: 70S; eukaryotic: 80S.
15
What is the lac operon?
An inducible operon regulating lactose metabolism in E. coli.
16
What happens when lactose is present in the lac operon?
Allolactose inactivates the repressor, allowing transcription.
17
What is catabolite repression?
High glucose lowers cAMP, reducing lac operon transcription.
18
What is the trp operon?
A repressible operon controlling tryptophan synthesis.
19
What is feedback inhibition in the trp operon?
Tryptophan activates the repressor to stop transcription.
20
What is attenuation?
A mechanism regulating transcription based on tryptophan levels.
21
What is the purpose of gene regulation?
To produce correct proteins at the right time and conserve energy.
22
What are levels of gene regulation?
Transcriptional, post-transcriptional, translational, post-translational.
23
What is chromatin remodeling?
Altering DNA accessibility for transcription.
24
What are enhancers and silencers?
Enhancers increase transcription, silencers decrease it.
25
What is the significance of epigenetics?
Heritable changes in expression without altering DNA sequence.
26
What is the role of chaperones?
Assist proper protein folding.
27
What modifications occur post-translation?
Phosphorylation, glycosylation, acetylation, methylation, ubiquitination, disulfide bonds.
28
What is the function of signal peptides?
Direct proteins to specific locations like the ER or mitochondria.
29
What mechanisms ensure translation quality control?
Stalled ribosome rescue, tRNA proofreading, mRNA surveillance.
30
What happens when tryptophan levels are high?
Leader peptide is translated quickly, forming a terminator hairpin that stops transcription.
31
What happens when tryptophan levels are low?
Ribosome stalls; an antiterminator hairpin forms; transcription continues.
32
What is required for attenuation?
Coupled transcription and translation.
33
What are repressors?
Proteins that bind the operator to block transcription.
34
What are activators?
Proteins that increase transcription by helping RNA polymerase bind.
35
What are inducers?
Molecules that inactivate repressors.
36
What are corepressors?
Molecules that activate repressors.
37
Why is eukaryotic transcription more complex?
Chromatin structure, enhancers/silencers, many transcription factors.
38
What are the forms of chromatin?
Euchromatin and heterochromatin.
39
What is the effect of histone acetylation?
Increases transcription by loosening DNA-histone interaction.
40
What does deacetylation do?
Condenses chromatin and decreases transcription.
41
What is methylation?
A modification that usually decreases transcription.
42
What do chromatin remodeling complexes do?
Move or remove nucleosomes using ATP.
43
What is the core promoter?
TATA box, Inr, DPE, BRE—determines transcription start.
44
What are enhancers?
DNA sequences that increase transcription.
45
What are silencers?
DNA sequences that decrease transcription.
46
What are general transcription factors?
Proteins required for Pol II transcription.
47
What is the difference between specific and general transcription factors?
Specific factors regulate particular genes; general are required for all Pol II genes.
48
What is epigenetic regulation?
Changes in expression independent of DNA sequence.
49
What is alternative splicing?
Producing multiple proteins from one gene.
50
How does RNA stability affect gene regulation?
Poly-A tail length affects degradation.
51
What is RNA interference?
miRNA or siRNA repress or degrade mRNA.
52
What is ferritin mRNA regulation?
An example of translational control by iron levels.
53
What was the Meselson-Stahl result?
DNA replication is semi-conservative.
54
What is the Origin Recognition Complex?
Binds origins throughout the cell cycle.
55
What does licensing ensure?
Each origin fires once per cycle.
56
What is MCM helicase?
Unwinds DNA ahead of replication fork.
57
What is DNA polymerase α-primase complex?
Synthesizes RNA primer and initial DNA.
58
What is DNA ligase I?
Seals nicks between Okazaki fragments.
59
What are telomeres?
TTAGGG repeats protecting chromosome ends.
60
What is telomerase?
Reverse transcriptase extending telomeres.
61
What is the end-replication problem?
Lagging strand cannot fill final primer gap.
62
What is TERT?
Catalytic protein of telomerase.
63
What is TERC?
RNA template of telomerase.
64
Where is telomerase active?
Germ cells, embryonic stem cells, cancer cells.
65
What inhibits telomerase in somatic cells?
It is inactive, causing aging.
66
What is the purpose of cell cycle regulation?
Ensures replication occurs once per cycle.
67
What initiates DNA replication in S phase?
CDK/DDK activation and CMG helicase formation.
68
What is geminin?
Inhibits Cdt1 to prevent relicensing.
69
What are spontaneous DNA damages?
Replication errors or chemical changes.
70
What is depurination?
Loss of A or G.
71
What is deamination?
C→U or 5-mC→T conversion.
72
What are pyrimidine dimers?
UV-induced lesions.
73
What are point mutations?
Single nucleotide changes.
74
What is a missense mutation?
Changes one amino acid.
75
What is mismatch repair?
Fixes replication errors.
76
What is base excision repair?
Glycosylase removes damaged base → repair.
77
What is nucleotide excision repair?
Removes bulky lesions.
78
What is NHEJ?
Error-prone double-strand break repair.
79
What is homologous recombination?
Accurate double-strand break repair.
80
What did Griffith show?
A transforming principle converts R cells to S.
81
What did Avery, MacLeod, McCarty prove?
DNA is the hereditary molecule.
82
What did Hershey-Chase demonstrate?
DNA enters cells, not protein.
83
What are nucleotide components?
Base, deoxyribose, phosphate.
84
What are Chargaff rules?
A=T, G=C.
85
What is DNA structure?
Double helix.
86
What are DNA strand orientations?
5'→3' and 3'→5'.
87
What stabilizes DNA base pairs?
Hydrogen bonds and base stacking.
88
What are major and minor grooves?
Major = wide; minor = narrow.
89
Why is the major groove important?
Proteins read DNA there.
90
What are A-, B-, Z-DNA?
Three DNA forms.
91
What is B-DNA helix sense?
Right-handed.
92
What distinguishes A-DNA?
Compressed and dehydrated.
93
What is a gene?
A hereditary unit encoding RNA or protein.
94
What are coding genes?
Genes producing mRNA.
95
What are noncoding genes?
Genes producing functional RNA.
96
What is a gene vs allele?
Gene = sequence; allele = variant.
97
Who discovered transformation?
Griffith.
98
What did Avery et al. identify?
DNA is the transforming principle.
99
What is RNA polymerase?
Synthesizes RNA from DNA.
100
What are stages of transcription?
Initiation, elongation, termination.
101
How do DNA and RNA nucleotides differ?
RNA has ribose and U instead of T.
102
What are transcription base pairing rules?
A–U, T–A, G–C, C–G.
103
What is prokaryotic RNA polymerase structure?
Core enzyme + sigma factor.
104
What are conserved promoter elements?
-35 and -10 boxes.
105
What is the TATA box?
TFIID binding site.
106
What is the sigma factor?
Directs polymerase to promoters.
107
What is the CTD tail of Pol II?
Phosphorylation triggers promoter escape.
108
What are prokaryotic termination mechanisms?
Rho-independent and Rho-dependent.
109
What is Rho protein?
Moves along RNA and releases it.
110
What is the polyadenylation signal?
AAUAAA.
111
What is Poly-A polymerase?
Adds ~200 adenines to mRNA.
112
What happens without capping?
RNA destabilizes; torpedo model applies.
113
What is first step of capping?
Removal of γ-phosphate.
114
What is added in capping?
m⁷G cap.
115
What are functions of the cap?
Protection, ribosome binding, export.
116
What triggers polyadenylation?
Recognition of AAUAAA.
117
What is CPSF?
Binds AAUAAA.
118
What are poly-A binding proteins?
Stabilize mRNA and enhance translation.
119
How do prokaryotic vs eukaryotic transcription differ?
Prokaryotes: 1 polymerase; eukaryotes: Pol I/II/III.
120
What is the significance of splicing?
Removes introns.
121
What are intron elements?
GU, branch A, polypyrimidine tract, AG.
122
What are snRNPs?
Spliceosome components.
123
What are the two transesterification reactions?
Lariat formation & exon ligation.
124
What types of alternative splicing exist?
Exon skipping, mutually exclusive exons, alt 5'/3' sites, etc.
125
What is tRNA’s role?
Links codons to amino acids.
126
What is tRNA structure?
Cloverleaf.
127
What is the acceptor stem?
CCA end attaching the amino acid.
128
What are aminoacyl-tRNA synthetases?
Charge tRNAs with amino acids.
129
What is rRNA’s function?
Catalyzes peptide bonds.
130
What are prokaryotic ribosome components?
50S (23S+5S) + 30S (16S).
131
What is the Shine-Dalgarno sequence?
Aligns mRNA with ribosome.
132
What is amino acid structure?
α-carbon, NH₂, COOH, H, R group.
133
What distinguishes L-isomers?
Protein amino acids are L-isomers.
134
What is the only achiral amino acid?
Glycine.
135
How are amino acids classified?
Hydrophobic or hydrophilic.
136
Examples of hydrophobic AAs?
Glycine, alanine, valine.
137
What characterizes hydrophilic AAs?
Found on protein surfaces.
138
What bond forms between amino acids?
Peptide bond.
139
What reaction forms peptide bonds?
Condensation.
140
What is primary structure?
Amino acid sequence.
141
What stabilizes secondary structure?
Hydrogen bonds.
142
Major secondary structures?
α-helix and β-sheet.
143
What is tertiary structure?
3D folding of one polypeptide.
144
What is quaternary structure?
Multiple polypeptide subunits.
145
What is a codon?
Three-base mRNA sequence.
146
What is the start codon?
AUG.
147
What is the wobble hypothesis?
Flexible third-base pairing.
148
What is a Holliday junction?
Four-stranded recombination intermediate.
149
What initiates meiosis DSBs?
Spo11.
150
Outcomes of Holliday junction resolution?
CO and NCO.
151
What are cohesins?
Hold sister chromatids.
152
What happens in G1?
Chromosomes unreplicated.
153
What happens in S phase?
DNA replication.
154
What is the function of telomeres?
Stabilize chromosome ends.
155
Why is the genetic code universal?
Shared evolutionary ancestry.
156
What is tRNA’s role in translation?
Reads codons, carries amino acids.
157
What stabilizes tertiary protein structure?
Hydrophobic, H-bonds, ionic, disulfide, van der Waals.
158
What is the peptide bond’s function?
Links amino acids.
159
What is the R group’s role?
Defines amino acid properties.
160
What is the 30-nm fiber?
Higher chromatin condensation requiring H1.
161
What is the synaptonemal complex?
Aligns homologs in meiosis.
162
What is recombination’s role?
Creates variation.
163
How does meiosis differ from mitosis?
Produces haploid gametes, not identical cells.
164
How many divisions in meiosis?
Two.
165
When do homologs pair?
Prophase I.
166
What is crossing-over?
Exchange between homologs.
167
What is independent assortment?
Random alignment of homolog pairs.
168
What is 2ⁿ?
Number of possible gametes.
169
How does fertilization create variation?
Random gamete fusion.
170
Main chromosome components?
Chromatin, centromeres, telomeres, origins.
171
What happens in G1?
Single chromatids.
172
Role of recombination beyond variation?
Ensures correct segregation.
173
What is the Law of Segregation?
Alleles separate in gamete formation.
174
What is a monohybrid cross?
Single-trait inheritance.
175
Monohybrid phenotype ratio?
3:1.
176
What is a dihybrid cross?
Two-trait inheritance.
177
Dihybrid phenotype ratio?
9:3:3:1.
178
Genotype vs phenotype?
Genotype = genes; phenotype = traits.
179
What is complete dominance?
One allele fully masks another.
180
What is incomplete dominance?
Heterozygote intermediate.
181
What is codominance?
Both alleles expressed.
182
What is pleiotropy?
One gene affects multiple traits.
183
What is epistasis?
One gene masks another.
184
What is Hardy-Weinberg equilibrium?
Alleleenotype frequencies remain constant.
185
Assumptions of Hardy-Weinberg?
Large population, random mating, no mutation/migration/selection.
186
How do allele frequencies behave?
Remain constant in equilibrium.
187
Effect of natural selection?
Increases beneficial alleles.
188
Fates of new alleles?
Fixation, maintenance, loss, drift.
189
What is Mendelian inheritance?
Single-gene traits.
190
What governs multigene crosses?
Independent assortment.
191
Role of mutations?
Create new alleles.
192
Hardy-Weinberg provides what?
Baseline to detect evolution.
193
How are alleleenotype frequencies predicted?
Hardy-Weinberg equation.
194
What is gene mapping?
Determining gene order and distance.
195
What is partial linkage?
Linked genes separated by crossing-over.
196
What happens during crossing-over?
Synapsis and DSB formation.
197
What is recombination frequency?
% recombinants.
198
Low RF indicates what?
Genes are close.
199
What is a testcross?
Heterozygote × recessive.
200
What is three-point mapping?
Determines gene order and distances.
201
What is interference?
One crossover reduces nearby crossover chance.
202
What are molecular markers for?
Mapping disease genes.
203
Role of recombination in variation?
Creates new allele combinations.
204
What is Sanger sequencing?
Uses ddNTPs to terminate strands.
205
Strengths of short-read sequencing?
High throughput, accuracy, low cost.
206
Limitation of long-read sequencing?
Lower accuracy historically.
207
Human gene density?
≈1 per 100,000 bp.
208
Human nuclear genome size?
≈3.2 billion bp, 24 chromosome types.
209
Purpose of pedigree analysis?
Determine inheritance and linkage.
210
High RF indicates what?
Genes far apart.
211
Significance of DCO classes?
Reveal middle gene.
212
What are SNPs?
Single-base polymorphisms used in mapping.
213
Role of computational algorithms?
Assembly into contigs/scaffolds.
214
Maximum RF and why?
50% due to multiple crossovers.
215
% coding DNA?
~1.5%.
216
% noncoding DNA?
~98.5%.
217
What are introns?
Noncoding gene regions removed in splicing.
218
Role of noncoding DNA?
Regulatory, structural, evolutionary roles.
219
What are transposable elements?
Movable DNA sequences (~45%).
220
What are LINEs and SINEs?
Long/short interspersed nuclear elements.
221
What are tumor suppressor genes?
Negative regulators of growth.
222
What is a point mutation?
Single nucleotide change.
223
What is a missense mutation?
Amino acid substitution.
224
What is the Philadelphia chromosome?
Leukemia-associated translocation.
225
What is somatic gene therapy?
Targets non-reproductive cells.
226
What is germline gene therapy?
Targets gametes/embryos; heritable.
227
Ethical concerns in gene therapy?
Safety, access, enhancement vs. treatment.
228
Purpose of GM crops?
Improve yield, resistance, nutrition.
229
Example of herbicide-resistant crop?
Roundup Ready.
230
What is Bt corn?
Expresses Bacillus thuringiensis toxin.
231
What is Golden Rice?
Produces β-carotene.
232
Risks of GM crops?
Gene flow, superweeds, biodiversity effects.
233
What is GINA?
Law preventing genetic discrimination.
234
Implications of germline editing?
Heritable effects, unknown risks.
235
What was Buck v. Bell?
Case upholding forced sterilization.
236
Impacts of eugenics?
Human rights abuses, distrust, ethical debates.
237
Role of repetitive DNA?
Major genomic component, includes transposons.
238
What are lncRNAs?
Regulate gene expression and chromatin.
239
What is a splice-site mutation?
Alters splicing; can cause disease.
240
What are repeat expansions?
Cause disorders like Huntington’s and Fragile X.
241
What is pharming?
Producing pharmaceuticals in GM plants/animals.
242
Major gene classes in cancer?
Proto-oncogenes and tumor suppressors.
243
Impact of chromosomal abnormalities?
Disorders like Down syndrome.
244
Challenges of somatic gene therapy?
Delivery, immune response, temporary expression.
Study all 244 cards for free