SPEARS MOUSE
Increased histone acetylation catalyzed by histone acetyltransferases leads to what?
increased transcription
what changes a mutation back to wild-type phenotype?
revertant mutation
What is the most abundant DNA modification?
5mC
Are enzymopathies recessive or dominant
Recessive
What is it called when the product of the mutant allele interefers with the function of the product of the wild type allele
Dominant negative
What is the diffusible substance regulating the developmental fate of cells
morphogen
Two or more proteins can be involved in the same pathway or physically interact with one another
Second site mutation
What added to DNA tends to silence expression of genes
methylation
What disease led to the development of statins
Is O1 Type 1 haploinsufficient or dominant negative
haploinsufficient
What primarily determines your cell fate
where you are
Blank can initiate a cascade of events through activating other blank and multiple target genes. What is blank?
transcription factors
What three things are needed to produce a transgene
Regulatory region, gene, Poly A cassette
In the absence of phenylalanine hydroxylase does PHE increase or decrease
increase
What is the name of this: a person may have two alleles that are mutated but differently mutated - hint associated with recessive traits
compound heterozygote
What were the mutations in C. elegans?
Lin-14 and Lin-4
Lin-4 binds 3'UTR of Lin-14 to reduce Lin-14 protein levels
What is the mutation called when body parts are in the wrong places?
homeotic mutation
What is the specific name of an animal in which a segment of DNA has been physically inserted into the genome
Transgenic animal
what is the name of the first widely used newborn screening method
Guthrie
Between LDLR, ApoB, PCSK9 which is/are the gain-of function mutation
PCSK9
Name some disadvantages of transgenic mice
integrates randomly, endogenous gene counterparts still exist
Good way to overexpress genes, but many mutations are loss of expression / function
Better for gain of function than loss of function
What are the earliest zygotic genes
GAP
What ligand is added to a conditional knockout gene to make it be expressed in the nucleus? Hint it binds to the estrogen receptor (not estrogen)
Tamoxifen
Name at least two reasons a genetic disease may be found at higher frequency in a population
mutant allele confers advantage to disease in a certain environment, founder effect, consanguinity, certain mutation s may not reduce reproductive fitness
What is the name of the signaling pathway associated with Alagille Sydrome
Notch