DNA mutation & repair
This type of mutation alters a codon sequence but does not change the encoded amino acid, typically having no effect on protein function
Silent (synonymous) mutation
Although regulation happens at every step, this is considered the most important regulated step in the gene expression pathway
Glucose is reduced to sorbitol by this enzyme
Aldose reductase
This Mendelian law states that each individual carries two alleles for a trait, but only one is passed to the next generation at each mating
Law of Segregation
By scientific convention, the primary structure of a protein is always written starting from this terminus and ending at this terminus
N-terminus and C-terminus
This error-free repair mechanism is used to fix double-strand breaks by using an intact homologous chromosome as a template
Homologous recombination
Prokaryotic transcription initiation is specified by these factors, which are components of RNA polymerase that bind to specific -10 and -35 consensus sequences
Sigma factors
This amino acid is essential in children
Arginine
This phenomenon occurs when a mating between two individuals with the same recessive phenotype results in unaffected offspring because the mutations are in different gene
Complementation
These stable units of protein organization fold independently and often confer separate functional modules to a large protein
protein domains
This autosomal recessive syndrome is caused by a defect in Nucleotide Excision Repair (NER), leading to extreme photosensitivity and a high risk of skin cancer
Xeroderma Pigmentosum (XP)
These short, ~22-nucleotide RNA molecules function with the RISC complex to inhibit translation or trigger mRNA degradation
microRNAs (miRNAs)
In the small intestine, the ApoB gene undergoes this process where deamination of a cytosine creates a premature stop codon, producing a truncated protein
mRNA editing
This disorder often presents with delayed motor milestones and the use of Gower’s maneuver to rise from the floor
Duchenne Muscular Dystrophy (DMD)
These are the three amino acids characterized by aromatic R-groups
Triple points!!!
phenylalanine, tyrosine, tryptophan
These flat, planar molecules like ethidium bromide can slide between stacked bases, causing insertions or deletions during replication
This protein regulates the expression of Ferritin and the Transferrin Receptor post-transcriptionally by binding to mRNA in the absence of iron
Iron Response Element Binding Protein (IRE-BP)
This structure supports the development and function of the syncytiotrophoblast
May result in multiple affected children even when genetic testing of parents is negative
germline mosaicism
This is the primary driver for the folding of globular proteins, where nonpolar side chains are sequestered into the interior core to avoid water
hydrophobic effect
This protein, which is mutated in Nijmegen Breakage Syndrome, is specifically involved in the repair of double-stranded DNA breaks
Nibrin
In reticulocytes, the translation of globin is regulated by the phosphorylation of this specific initiation factor based on heme availability
eIF2
What lacks glycerol kinase and can only produce glycerol 3-Phosphate from glucose
White adipose tissue
A researcher observes a pedigree for a rare deafness disorder where two affected parents have only unaffected children. Conversely, in a different family with a common blood type trait, a vertical transmission pattern is observed despite the trait being recessive. In a third family, an unaffected woman whose brother has Cystic Fibrosis marries her first cousin. To calculate the risk of their first child being affected, you must first apply this fractional rule to the woman’s genotype
TRIPLE points (3 answers)
complementation, pseudodominance, and the 2/3 rule
These are imperfect gene copies within a single species that often acquire new functions
Paralogs