Exam 3 Key Experiments and Molecular Medicine Flashcards
Families with non-sex linked Emery-Dreifuss muscular dystrophy had mutations in the single gene (___) encoding nuclear lamins A and C.
LMNA
Two hypotheses for how mutations in nuclear lamins cause different tissue-specific diseases:
One is the ___ ___ hypothesis that posits the correct interaction of lamin A and C with the nuclear envelope is essential for normal tissue-specific expression of certain genes.
gene expression
Two hypotheses for how mutations in nuclear lamins cause different tissue-specific diseases:
The other is the ___ ___ hypothesis that states the mutations in the nuclear lamin-emerin complex weaken the structural integrity of an integrated cytoskeleton network.
mechanical stress
The viral protein ___ ___ ___ was used as a model of study for finding nuclear localization signals in animal cells.
SV40 T antigen
By deleting/replacing single amino acids in the peptide chains of T antigen, they found that the amino acid sequence from residue ___ to ___ served as a nuclear localization signal.
127 to 132
In vitro translation of light-chain mRNA on free ribosomes yielded a protein that was ___ than the secreted light chain.
larger
Results indicated that a(n) ___ ___ ___ is removed by a microsomal protease as growing polypeptide chains are transferred across the membrane.
amino-terminal signal sequence
Thanks to the discovery of amino-terminal signal sequences, cell biologists have a better understanding of how all ___ are transferred across membrane-encolosed compartments in the cell.
proteins
___ disease is the most common of lysosomal storage diseases, which are caused by a failure of lysosomes to degrade substances that they would normally break down.
Gaucher disease
Gaucher disease is caused by a deficiency of the lysosomal enzyme ___ which catalyzes the hydrolysis of glucosylceramide to glucose and ceramide.
glucocerebrosidase
The only cells affected by Type 1 Gaucher disease are ___.
macrophages
A mutation in mitochondrial DNA causes LHON: The mutation affects one of the subunits of ___ ___ of the ETC.
complex 1 (NADH dehydrogenase)
LHON:
This mutation in mitochondria affects cells which rely on oxidative phosphorylation the most, primarily cells in the ___.
CNS (Central Nervous System)
Peroxisome biogenesis disorders result from mutations in the ___ proteins responsible for peroxisome assembly.
Pex proteins
A microtubule experiment identified a 110-kd polypeptide that was bound to microtubules in the presence of AMP-PNP, and released by subsequent incubation with ATP -> named ___.
kinesin
