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NEU Genetics Fall 2010 Vollmer Lec 22
These flashcards go over most lecture material from Lec 22 of Vollmer's fall 2010 genetics section
28
Microbiology
Undergraduate 1
11/16/2010

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Term
Can specific mutations actually be controlled? Also, how is the rate of mutation for specific gene measured?
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

Term
How can the rate of mutations in a particular individual be increased?
Definition

By exposing the individual to mutagens which induce new mutations

Term
What is so devastating about germ-line mutations and what differs them from somatic mutations?
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

Term
What are three key things to note about somatic mutations?
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

Term
What are conditional mutations? Give one example
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)

Term
What does a loss-of function mutation result in?
Definition

It results in complete gene inactivation or in a completely nonfunctional gene product

Term
What effect does a hypomorphic mutation have?
Definition

It reduces the level of expression of a gene or activity of a product

Term
What effect does a hypermorphic mutation have?
Definition

It will increase the level of gene expression becasue it changes the regulation of the gene so that the gene product is overproduced

Term
What effect does a gain-of-function mutation have and what kind of expression is this called?
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

Term
What effect does a transition nucleotide base substituion have?
Definition

The pyrimidines are changed (T to C or vice versa)

Term
What effect does a transversion nucleotide base substitution have?
Definition

Purines and pyrimidines interchange (A or G to C or T and vice versa)

Term
Why are transition nucleotide base substitutions favored so heavily in a 2:1 ratio over transversions? How does this particular transition work?
Definition

Methylated cytosine can easy convert to thymine. By removing the NH2 group from the metC, T can be obtained

Term
What does a missense or nonsynonymous base substitution result in with regards to the protein product?
Definition

These substitutions result in an amino acid being replaced with another

Term
What does a synonymous or silent base substitution do in regards to the amino acid product
Definition

They don't affect the amino acid sequence

Term
What effect does a nonsense base substitution have in regards to the codon sequence?
Definition

A nonsense mutation creates a new stop codon

Term
What effect does a frameshift mutation have in regards to the amino acid sequence? When is this a really bad or neutral result?
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

Term
What is the mutation involved in sickle cell anemia?
Definition

It is a mutant in the beta-globin gene which shifts a GAG sequence to GUG (glutamic acid is changed to valine)

Term
How are sickle cell anemia and malaria related to each other?
Definition

People who are heterozygous for SCA are affected less by malaria than people who're free of the SCA alleles.

Term
What are dynamic mutations and what effect do they have? What is a good example of this?
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

Term
What are the molecular symptoms of Fragile-X Syndrome? What specific sequence is FXS caused by?
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

Term
What effect does an excessive number of CGG repeats have on the FMR1 gene (fragile-site mental retardation-1)?
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

Term
What is strange about the inheritance of Fragile X?
Definition

Heterozygous daughters of heterozygous males will often have affected children of both sexes

Term
What effect does methylation of the CGG repeats have on FMR1 transcription?
Definition

It shuts down the transcription

Term
What is a transposable element?
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

Term
What are transposons and what effect do they normally have?
Definition

Transposons are mobile DNA elements and they normally disrupt normal gene function

Term
What is so special about Long Terminal Repeats (LTRs or LTR retrotransposons) in D mel?
Definition

They transpose using an RNA intermediate that is made into DNA for transposition using reverse transcriptase (which the LTR encodes for)

Term
What form(s) can transposable elements form when brought to different sites when they're in the same direction in regards to orientation?
Definition

While in direct orientation they can either result in deletions or free circles

Term
What DNA form will transposable elements in the opposite direction form when recombining?
Definition

The result will be an inversion mutation

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