NS5: BBCF Flashcards
Autosomal v X linked disorders affect which populations more?
Autosomal disorders are more likely to affect both sexes, whereas X linked are more likely to affect exclusively males
expression profiling
Expression profiling allows researchers to see what genes are being expressed where. This allows for elimination of potential genes of interest that do not align with the area of interest.
what is the human genome largely comprised of, vs proj / unicellular euk
Nearly 95% of the human genome does not code for proteins or RNA; that’s because we have introns that we splice out after transcription, yielding us a functional unit of our genome.
In contrast, the genomes of both prokaryotes and unicellular eukaryotes largely lack introns. In these organisms, most genetic material does code for protein products.
Where is proline most likely to be found in a sequence of DNA?
The unusual cyclic structure of proline creates a high degree of rigidity in the primary structure of a protein and disrupts the normal formation of alpha or beta secondary structures. Thus proline is much more likely to be found in the unstructured “turn” regions of a protein between the larger secondary structures.
critical genes
Critical genes are often conserved across species.
In fact, many genes are so highly conserved that human homologues can be used interchangeably with their bacterial counterparts.
Mendel’s First Law
Law of Independent Assortment states that separate genes which encode separate traits are passed down from parent to offspring independently of each other.
Independent assortment clearly occurs for genes that are physically located on different chromosomes, because it is random whether an organism inherits the maternal or paternal copy of a given chromosome — that is, during meiosis, the orientation of homologous chromosomes on the metaphase plate is random.
Furthermore, even for genes on the same chromosome, recombination during meiosis ensures that they are inherited independently in most cases. However, genes that are physically located close to each other on a chromosome show a tendency to be inherited together.
Aerobic respiration processes of metabolism (3)
In human metabolism, the electron transport chain (ETC) and oxidative phosphorylation are aerobic processes, since oxygen is the final electron acceptor in the ETC. Therefore, oxygen is required to produce the proton gradient that leads to the formation of ATP via ATP synthase.
The Krebs cycle (also known as the citric acid cycle) is also considered aerobic, even though it does not use oxygen directly, since this cycle requires the reduction of NAD+ to NADH.
The opposite process (NADH to NAD+) happens in the ETC. When the ETC ceases to function in the absence of oxygen, then, NADH builds up and NAD+ becomes depleted, and the Krebs cycle eventually stops.
Anaerobic respiration processes of metabolism (2)
glycolysis is anaerobic, since it does not require oxygen. In fact, cells use glycolysis to function in low-oxygen conditions, since it produces ATP – albeit less than the cell would create aerobically.
Like the Krebs cycle, glycolysis requires NAD+, so a cytosolic process is required to regenerate it from NADH under anaerobic conditions.
This process is fermentation. In yeast cells, ethanol fermentation converts pyruvate into ethanol and carbon dioxide. In human cells and some bacteria, lactic acid fermentation uses the lactate dehydrogenase enzyme to convert pyruvate into lactate. In both cases, NADH is converted to NAD+, allowing glycolysis to continue.
nondisjunction
failure of chromosomes to separate properly during anaphase I of meiosis or the failure of sister chromatids to separate properly during anaphase II of meiosis
what would removing protons from an aqueous solution containing an acid do?
In acid dissociation reactions, aqueous H+ is a product. Le Châtelier’s principle states that removing one or more products will cause equilibrium to shift toward the product side of the reaction.
In other words, if protons are continually removed from the solution, any acid (even a weak one!) in solution will continue to dissociate.
tautomers
- definition
- list of examples
- contrast to resonance
Tautomers are structural isomers that interconvert with each other and exist in equilibrium.
Most commonly takes place as keto-enol isomerism but also takes place between enamines and imines (the second most important example), lactams and lactims, and amides and imidic acids
Contrasts to resonance bc resonance allows for delocalization of electrons, vs tautomers are two different structures that interconvert via the breaking and re-formation of bonds
keto-enol isomerism
tautermization in which a ketone interconverts with an enol (a structure with an C–OH group and an adjacent C=C bond, instead of a C=O bond and an adjacent C–C bond, as in a ketone).
At room temperature, the keto form is favored, but the enol form contributes significantly to some reaction mechanisms, and the deprotonated intermediate (known as an enolate ion) is also important for some reactions
vascularization
Vascularization is to develop or extend blood vessels or other fluid-bearing vessels or ducts; basically refers to the presence of blood vessels in an area of the body.
All aerobic metabolism processes (incl ETC, oxidative phosphorylation, and the Krebs cycle – basically everything in the mitochondria) relies on oxygen, which is supplied by the blood.
Dithiothreitol
a reducing agent often used during SDS-PAGE to further denature proteins by reducing/cleaving disulfide linkages and breaking up the quaternary protein structure (oligomeric subunits)
what develops out of each germ layer?
Ectoderm – skin, nervous tissue (including peripheral sensory neurons), adrenal medulla, epithelial lining of mouth and anus
Mesoderm – Heart, kidney, spleen, circulatory system / blood vessels, bone, lymphatic system, wall of gut, adrenal cortex, musculoskeletal system, reproductive system / gonads, excretory system
Endoderm – Epithelial lining of digestive tract (except for mouth and anus), liver, pancreas
