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