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BIOL*1090 Lectures 22-24
Allele variation, gene function, Genotype/Phenotype, Gene Regulation
39
Biology
Undergraduate 1
04/12/2013

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Term
True or False
Genes usually only have two alleles
Definition
False, genes often have more than two alleles
Term
Define Wild Type
Definition
Most common allele
Term
If an allele is found at a minimum 1% frequency in a population, what is this called?
Definition
Polymorphism
Term
True or False
Recessive alleles involve a loss of gene function
Definition
True, almost always
Term
Why would a mutation be recessive?
Definition
Because usually just 1 functional copy is enough to produce a normal (wild type) phenotype
Term
Define Null Allele
Definition
Complete loss of function
Term
Define Hypomorphic Allele
Definition
Partial loss of function
Term
An allele having the same phenotype in heterozygotes as in homozygotes is....dominant or recessive?
Definition
Dominant
Term
True or False
Dominant mutations always involve a loss of protein function
Definition
False
Dominant mutations can involve a loss OR gain of function
Term
What will be exhibited if 1 functional copy of the dominant gene is not enough to produce a wild type?
Definition
Incomplete/partial dominance
Term
Define Dominant Negative mutation
Definition
loss of function mutation
interferes with function of the wild type allele
Term
What does a 'gain of function' mutation do?
Definition
enhances normal function of the gene
Term
If a black hamster X a white hamster produces a grey hamster, what may you conclude about the dominance of the black & white genes?
Definition
They are incomplete/partially dominant
Term
If a brown cat with white feet is crossed to a grey cat, and the offspring are grey with white feet, what can you conclude about the dominance of the genes?
Definition
They are co-dominant
Term
How do you describe the dominance hierarchy of multiple alleles
Definition
An allelic series
Term
True or False
All alleles act independently
Definition
False
Different combinations/interactions between alleles can produce different phenotypes
Term
What factors can influence a phenotype?
Definition
Genetic & Environmental
Term
True or false
Only the internal environment can affect the phenotype
Definition
False
The external (physical) environment can also affect phenotype
Term
What is the name for a mutation that is dependent on the environment
Definition
Conditional mutation
Term
The dietary influence on the mutation of PAH protein is an example of what kind of mutation?
Definition
A conditional mutation
Term
What is the name of a gene that affects multiple phenotypes
Definition
Pleotropic
Term
If a group of individuals all exhibit the same phenotype, but in varying degrees, how would you describe the gene?
Definition
It exhibits variable expresivity
Term
If an individual possesses the appropriate genotype, but does not exhibit the corresponding phenotype, how would you describe it?
Definition
Incomplete penetrance
Term
Define epistasis
Definition
An allele from one gene overrides the effect of other genes on the overall phenotype
Term
True or False
All cells contain different DNA & identical mRNA
Definition
False
All cells have identical DNA & different mRNA
Term
True or False
During cell differentiation, some genes are 'lost'
Definition
False, genes are not lost
Term
True or False
Genome size is proportional to the complexity of the organism
Definition
False
A more complex organism has a larger genome typically, but there is no complexity:size ratio
Term
Which would have a larger genome?
A fruit fly or a butterfly
Definition
Most likely, the butterfly
Term
How is gene expression regulated in eukaryotes?
Definition
Transcription
Term
What do interactions between proteins & DNA sequences regulate?
Definition
Gene transcription
Term
In addition to basic regulatory & coding regions of a gene, what else might you find?
Definition
Tissue specific enhancers
Term
These proteins bind to specific sequences within the promoter region
Definition
Basal transcription factors
Term
These proteins bind to sequences in promoters OR enhancers
Definition
Regulatory transcription factors
Term
What do basal transcription factors do?
Definition
Facilitate the binding of RNA polymerase
Term
These transcription factors are expressed in almost all cells
Definition
Basal transcription factors
Term
What do regulatory transcription factors do?
Definition
Facilitate the function of basal transcription factors & RNA polymerase
Term
These transcription factors are expressed in tissue-specific patterns
Definition
Regulatory transcription factors
Term
True or False
Chromosomes are all condensed to the same degree
Definition
False
They are not uniformly condensed
Term
True or false
DNA compaction is regulated & a factor in gene expression
Definition
True!
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