Term
Can specific mutations actually be controlled? Also, how is the rate of mutation for specific gene measured? |
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Definition
Mutations can't be controlled as they're spontaneous; they're unpredictable, random events. Each gene has a rate of spontaneous mutation which can be measured as the probability of a change in the DNA sequence within the timeframe of a single generation |
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Term
How can the rate of mutations in a particular individual be increased? |
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Definition
By exposing the individual to mutagens which induce new mutations |
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Term
What is so devastating about germ-line mutations and what differs them from somatic mutations? |
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Definition
Germ-line mutations are passed down to offspring since those mutations occur in the gametic cells. Somatic mutations are all mutations that don't occur in reproductive cells |
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Term
What are three key things to note about somatic mutations? |
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Definition
1. Somatic mutations are inherited in the cell line that the mutation occured in. 2. Somatic mutation yields an organism that is a genetic mix (mosaic) of normal and mutant tissue. 3. Most cancers are the result of somatic mutation |
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Term
What are conditional mutations? Give one example |
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Definition
Conditional mutations are mutations that produce phenotypic changes under specific (restrictive) conditions but not others (permissive conditions). A classification used in conditional mutations is known as temperature-sensitive mutations (whose expression depends on temperature) |
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Term
What does a loss-of function mutation result in? |
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Definition
It results in complete gene inactivation or in a completely nonfunctional gene product |
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Term
What effect does a hypomorphic mutation have? |
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Definition
It reduces the level of expression of a gene or activity of a product |
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Term
What effect does a hypermorphic mutation have? |
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Definition
It will increase the level of gene expression becasue it changes the regulation of the gene so that the gene product is overproduced |
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Term
What effect does a gain-of-function mutation have and what kind of expression is this called? |
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Definition
This kind of mutation qualitatively alters the action of a gene. These mutations can cause a gene to become active in a type of cell or tissue in which the gene is not normally active; this kind of expression is called ectopic expression |
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Term
What effect does a transition nucleotide base substituion have? |
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Definition
The pyrimidines are changed (T to C or vice versa) |
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Term
What effect does a transversion nucleotide base substitution have? |
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Definition
Purines and pyrimidines interchange (A or G to C or T and vice versa) |
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Term
Why are transition nucleotide base substitutions favored so heavily in a 2:1 ratio over transversions? How does this particular transition work? |
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Definition
Methylated cytosine can easy convert to thymine. By removing the NH2 group from the metC, T can be obtained |
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Term
What does a missense or nonsynonymous base substitution result in with regards to the protein product? |
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Definition
These substitutions result in an amino acid being replaced with another |
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Term
What does a synonymous or silent base substitution do in regards to the amino acid product |
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Definition
They don't affect the amino acid sequence |
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Term
What effect does a nonsense base substitution have in regards to the codon sequence? |
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Definition
A nonsense mutation creates a new stop codon |
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Term
What effect does a frameshift mutation have in regards to the amino acid sequence? When is this a really bad or neutral result? |
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Definition
Frameshift mutations shift the reading frame of the codons in the mRNA. If the amount of the added or deleted base sequences is divisible by three then there is not a significant effect but if the remainder of the sequence in question is 1 or 2 then there is a significant effect such as a faulty start codon or a premature stop codon |
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Term
What is the mutation involved in sickle cell anemia? |
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Definition
It is a mutant in the beta-globin gene which shifts a GAG sequence to GUG (glutamic acid is changed to valine) |
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Term
How are sickle cell anemia and malaria related to each other? |
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Definition
People who are heterozygous for SCA are affected less by malaria than people who're free of the SCA alleles. |
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Term
What are dynamic mutations and what effect do they have? What is a good example of this? |
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Definition
Dynamic mutations have extraordinary genetic instability because of trinucleotide repeat expansion (the continuous repeat of a codon). These are caused by replication slippage (the 3' end detaches and attaches later down the line which causes extensive trinucleotide repeats). Fragile X syndrome is a good example of this |
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Term
What are the molecular symptoms of Fragile-X Syndrome? What specific sequence is FXS caused by? |
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Definition
The molecular symptoms primarily include tendency of the X chromosomes to fracture in cultured cells that are starved of DNA precursors. An expansion of a CGG TNS repeat has been found to be the culprit in this case |
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Term
What effect does an excessive number of CGG repeats have on the FMR1 gene (fragile-site mental retardation-1)? |
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Definition
The excessive repeats cause loss of function so therefore the needed protein is essential in keeping individuals within the non-retarded phenotype. Most fragile X patients exhibit no FMR1 mRNA |
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Term
What is strange about the inheritance of Fragile X? |
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Definition
Heterozygous daughters of heterozygous males will often have affected children of both sexes |
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Term
What effect does methylation of the CGG repeats have on FMR1 transcription? |
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Definition
It shuts down the transcription |
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Term
What is a transposable element? |
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Definition
A transposable element is a genetic element that can move (transpose) within the genome and could also cause modification in the expression of genes at or near its insertion site |
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Term
What are transposons and what effect do they normally have? |
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Definition
Transposons are mobile DNA elements and they normally disrupt normal gene function |
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Term
What is so special about Long Terminal Repeats (LTRs or LTR retrotransposons) in D mel? |
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Definition
They transpose using an RNA intermediate that is made into DNA for transposition using reverse transcriptase (which the LTR encodes for) |
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Term
What form(s) can transposable elements form when brought to different sites when they're in the same direction in regards to orientation? |
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Definition
While in direct orientation they can either result in deletions or free circles |
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Term
What DNA form will transposable elements in the opposite direction form when recombining? |
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Definition
The result will be an inversion mutation |
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