a mutation resulting in the change of a nucleotide sequence in a gene
frameshift mutations
mutations that cause a shift in the reading frame of the gene, therefore different amino acids are coded instead
insertion point mutation
when an extra base is added, causing a shift in the reading frame
deletion point mutation
one nucleotide is removed, shifts reading frame
types of point mutations
silent, missense, nonsense
silent mutation
a single nucleotide is changed, but the same amino acid is still coded
missense mutation
a single nucleotide is changed and the codon codes for a different amino acid
nonsense mutation
a nucleotide is changed and accidentally codes for a stop codon, so no protein is made
chromosome mutations
changes in chromosome structure involving many genes
types of chromosome mutations
deletion, duplication, inversion, translocation
deletion in chromosome
entire coding regions of a gene are removed, leading to a loss of a part of a chromosome, so that certain protein cannot be coded
duplication chromosomal mutation
when a segment of genes in a chromosome is copied again, can lead to an overproduction of proteins, which can be toxic to the body
inversion chromosomal mutation
a certain section of a gene or chromosome is flipped around, can cause problems depending on which codon should be read first
translocation chromosomal mutation
when one section of a chromosome breaks off and attaches to another chromosome
spontaneous causes of mutations
when an error during DNA replication occurs and a mutation happens
induced cause of mutation
a mutation caused by an environmental agent (mutagen)
mutagen
chemical or physical agents in the environment that interact with DNA and may cause a mutation
chemical mutagen
substance that causes genetic changes, or mutations, in the DNA of an organism
examples of chemical mutagens
CO, HNO2, ethidium bromide
examples of radiation mutagens
UVB rays, X-Rays
gene regulation
the control of the level of gene expression
constitutive genes
genes that are always transcribed (e.g. amylase)
Why are some genes regulated?
so the body doesn't waste time producing molecules when they are not needed, and an overproduction of molecules can be toxic to the body
4 types of control mechanisms
transcriptional control, post-transcriptional control, translational control, post-translational control
transcriptional control
controls the rate of transcription so not too many mRNA molecules are transcribed, mRNA stays inside the nucleus without any modifications
examples of transcriptional control
- access to promoters is provided by loosening DNA from histones
- activator and repressor proteins bind to the promotor and impact the rate of transcription
- methyl groups are added to cytosine bases so RNA cannot bind and transcribe
post-transcriptional control
controls modifications of mRNA while in the nucleus (does not allow it to be translated)
examples of post-transcriptional control
- Alternative Splicing of mRNAs (different combinations of introns are removed and remaining exons join together)
- masking proteins bind to mRNA and inhibit further processing
- rate of degradation of mRNA is dependent on the need of the cell for the gene product
translational control
controls how often mRNA is translated
example of translational control
variation of poly-a tail is related to the rate of translation
post-translational control
controls which proteins should become active
example of post-translational control
- processing occurs and the polypeptide is chemically modified to render an active protein
- the presence of hormones may lengthen or shorten the length of time that a protein is functional
- ubiquitin-tagged-proteins are degraded
operon
cluster of genes under the control of a single promoter
inducer
a signal molecule that triggers the expression of an operon's genes
lac operon
a gene system whose operator gene and three structural genes code for lactase production
What is a repressor protein?
a regulatory protein that binds to the operator of the operon and blocks transcription
repressor protein for lac operon
Lacl protein
what happens if lactose is present?
the Lacl protein binds to the lactose molecule to break it down into its monomers, changing the shape of the Lacl protein, so it cannot bind to the operator anymore. therefore, the RNA polymerase can transcribe mRNA since it is not blocked
what happens when there is no lactose present?
the repressor protein (Lacl protein) binds to the operator of the operon, blocking RNA polymerase from transcribing RNA, so the gene cannot operate