Module 6 – Genetics, Evolution & Ecosystems Flashcards
C19) What is the meaning of mutation
A mutation is a change in the sequence of bases in DNA
C19) What are the causes of Gene mutations
Substitution, deletion or insertion of one or more nucleotide within a gene.
If only one nucleotide is affected it is called a point mutation
C19) What are the effects of substitution in gene mutations
Changes the codon on in which it occurs.
New codon codes for a different amino acid this will lead to a change in the primary structure of the protein
Degenerate nature of the genetic code may mean however that the new codon make code still for the same amino acids leading to no change in protein synthesis
C19) What are the effects of insertion and deletion in gene mutations
Lead to a frameshift.
Each group of three bases correspond to one amino acid the addition or deletion of a nuclear tide moves the reading frame of the sequence of bases therefore changing every code on from the point of mutation
C19) what are the effects of different genetic mutations on the phenotype
No effect – because normally functioning proteins are still synthesised
Damaging - than the phenotype is affected negatively because proteins are no longer synthesised or non-functional affecting with essential processes
Beneficial - very rare a protein is synthesise that results in a new and useful characteristic in the phenotype. For example a mutation in a protein in the cell surface membrane means that HIV cannot bind and enter the cells
C19) what are the causes of mutations
Mutations can occur spontaneously during DNA replication but the rate of mutation is increased by mutagens
The loss of bases often occur spontaneously. The absence of a base can lead to the insertion of an incorrect base through complimentary base pairing during DNA replication
Free radicals are oxidising agents which affect the structures of nuclear tides and disrupt base pairing during DNA replication
Antioxidants vitamins that are known as anticarcinogens because of the ability to negate the effects of free radicals
C19)What is a silent mutation
They do not change any proteins or the activities of any proteins synthesised meaning they have no effect on the phenotype.
Can occur inThe non-coding regions of DNA or code for the same amino acid because of the degenerate nature of the genetic code
May result in the change of the primary structure but do not change the overall structure or function of the protein
C19)What is a nonsense mutation
Results in a code on becoming a stop codon instead of coding for an amino acid
Resulting in the shortening of the protein being synthesised resulting in non-functionality. Negative or harmful effect on the phenotype
C19 what is a missense mutation
Result in the incorporation of an incorrect amino acid into the primary structure when the proteins synthesised
The result depends on the role of the amino acid in the structure and function of the protein
Conservative mutations occur when the amino acid change leads to an amino acid being coded for with similar properties of the original meaning the mutation is less serious
Non-Conservative mutation is when the new amino acid coded for has different properties to the original so more likely to have an effect on the protein structure and cause disease
C19) what is an example of a beneficial mutation
The ability to digests lactose is thought to be the result of a mutation.
Majority of mammals become lactose intolerant after they cease to suckle
The ability to digest lactate is found in European population because they are more likely to farm cattle
The ability to drink milk and processed lactose as an adult prevents individuals with the mutation from starving from famines
C19) What are the changes in chromosome structure after a chromosomal mutation
Caused by mutagens and normally occur during meiosis
Deletion – a section of chromosome breaks off and lost within the cell
Duplication - Sections get duplicated on a chromosome
Translocation - A section of one chromosome breaks off and joins another homologous chromosome
Inversion-a section of chromosome breakoff, is reversed and then joins back onto the chromosome
C19) what are housekeeping Genes
Enzymes which are necessary for reactions like respiration are constantly needed and the genes that code for these are called housekeeping Genes
C19) Why do bacteria regulate gene
They are able to respond to changes in their environment because of gene regulation
Expressing genes only when the products are needed also provides vital resources being wasted
C19) What are the different ways in which genes are regulated
Transcriptional - Genes can be turned on or off
Post transcriptional - MRNA they can be modified which regulates translation and the types of proteins produced
Translational - translation can be stopped or started
Post-translational-proteins can be modified after synthesis which could change their function
C19) what are different transcriptional controls for Gene regulation
Chromatin remodelling
Histone modification
Lac operon (Prokaryotes)
Role of Cyclic AMP (prokaryotes)
C19) How does chromatin remodelling Regulate gene expression
DNA is a very long molecule that has to be wound around proteins called histones allowing to be packed into the nucleus of a cell this is DNA/histone complex is called chromatin.
Heterochromatin is tightly wound DNA causing chromosomes to be visible during cell division
Euchromatin is loosely wound DNA present during interphase
Gene transcription is not possible when DNA is tightly wound because RNA polymerase cannot access genes,So euchromatin can be translated
Does not occur during cell division but during interphase
Regulation insures the proteins necessary for cell division are synthesised in time and prevents the complex and energy consuming process taking place during cell division
C19) How does histone modification Regulate gene expression
DNA coil around histones because they are positively charged and DNA is negatively charged
Histones can be modified to increase or decrease the degree of condensation
The addition of an acetyl group (acetylation) or phosphate group (phosphorylation) reduce the positive charge of the histone causing DNA to coil less tightly allowing for transcription
The addition of a methyl Group (methylation) making the histones more hydrophobic so they bind more tightly to each other causing DNA to coil tightly and preventing transcription of jeans
C19) what is the meaning of Epigene
Used to describe the control of gene expression by modifying DNA
C19) What is a lac operon
An operon is a group of genes that are under the control of the same regulatory mechanisms and are expressed at the same time
More common in prokaryotes because of the smaller and simpler structure of their genome
Also very efficient way of saving resources because if each gene products are not needed then all of the genes involved in the production are switched off
C19) How does lac operon Regulate gene expression on a prokaryote
E. coli is glucose is in short supply lactose can be used as a Respiratory substrate.
The lack operon is a group of three genes,LacZ,LacY and LacA involved in the breakdown of lactose
They are structural genes as they code for three enzymes (beta Galactoside, lactose permease and transacetylase) and they are transcribed into a single long molecule of RNA
The regulatory gene (LacI) codes for a repressor protein which prevents the transcription of the structural genes in the absence of lactose
The repressor protein binds to an area called the operator which prevents RNA polymerase binding to DNA at the promoter and begin transcription this is called down regulation
When lactose is present and binds to the repressor protein causing it to change shape so it is no longer bound to the operator allowing RNA polymerase to transcribe the enzymes
C19) how does the role of cyclic AMP regulate gene expression in a prokaryote
The binding of RNA polymerase results in slow rate of transcription which needs to be upregulated to produce the required quantity of enzymes to metabolise lactose
only possible when CRP is bound to cAMP
The transport of glucose into E. coli cells decrease the levels of CAMP reducing the transcription of the genes responsible for metabolise lactose, glucose becomes the primary. respiratory substrate
C19) What are the post transcriptional gene expression controls
RNA processing
RNA editing
C19) how does RNA processing control gene expression at the post transcriptional level
Transcription produces a precursor molecule called pre-mRNA this is modified forming mature mRNA before it can join to a ribosome and synthesise a protein
A cap is added to the five end and a tail is added to the three end helping to stabilise the mRNA and delay degradation in the cytoplasm. The cap binding of mRNA to ribosomes
Splicing occurs when RNA is cut at specific points. Intron (non-coding DNA) are removed and exons (coded DNA) are join together
C19) how does RNA editing Control gene expression at the post transcriptional level
The nucleotide sequence of some mRNA molecule can also be changed through base addition, deletion or substitution which results in the synthesis of different proteins with different functions
This increases the range of proteins that can be produced from a single mRNA molecule or gene
C19) What are the different translational controls that control Gene expression
Degradation of mRNA-more resistant the molecule the longer it will last of the cytoplasm therefore greater quantity of protein synthesised
Binding of inhibitory proteins to mRNA prevents it binding to ribosomes and synthesising proteins
Activation of initiation factors which aid the binding of mRNA to ribosomes (the eggs of many organisms produce large amounts of mRNA which is not required until after fertilisation with the use of initiation factors)
C19) What are the different post-translational controls that control Gene expression
Addition of non-protein groups such as carbohydrate chains, lipids and phosphate
Modifying amino acids and the formation of bonds such as disulfide bridges
Folding or shortening of proteins
Modification by cAMP
C19)What is the meaning of morphogenesis
The regulation of the pattern of anatomy development
C19)What are homeobox genes
A homeobox genes are a group of jeans which contain a homeobox
homeobox is section of DNA coding for a part of the protein 60 amino acid long and is highly conserved in plants ,animals and fungi
A homeodomain binds to homeobox and switches other genes on and off therefore homeobox genes are regulatory genes
pa6x when mutated causes blindness in humans. Mice and fruit flies also have this gene causing them to be blind as well.
C19) What are Hox genes
Are a group of homeobox genes that are only present in animals.
Responsible for the correct positioning of body parts
Found in gene clusters- mammals have four clusters on different chromosomes
The order in which the gene appears along the chromosome is the order in which the effects are expressed on the organism
C19) What are the layouts of living organisms
Body plans are usually represented as cross-section through the organism following the fundamental arrangement of tissue layers
The common feature of animals is that they are segmented (backbone of vertebrals)
The segments have multiplied over time becoming specialised for different functions
Hox genes in the head control the development of mouthparts while Hox genes in the thorax control the development of wings, limbs or ribs
C19) what is a Diploblastic animal and triploblastic
Animals that have two primary tissue layers
Animals that have three primary tissue layers
C19) how are humans segmented
Individual vertebra and associate structures have been developed from segments in the embryo called somites
The somites on directed by Hox genes to develop in a particular way depending on their position in the sequence
C19) What is Radial symmetry
It is seen in Diploblastic animals like jellyfish. They have no left or right only a top on the bottom
C19) What is bilateral symmetry
Seen in most animals means the organism has both left and right side and a head and tail
C19) What is meant by asymmetry of an organism
Seen in sponges which have no line of symmetry
C19) How does mitosis and apoptosis affect the body plan of an animal
Mitosis which results in cell division and proliferation
apoptosis which is programmed cell death
Mitosis increases the number of cells leading to growth. apoptosis remove unwanted cells and tissue. Cells undergoing apoptosis can also release chemical signals which stimulate mitosis leading to remodelling of tissue
Controlled by hox genes
C19) What factors are affecting the expression of regulatory genes
Can be affected by the environment both internal and external
Stress can be defined as the condition produced When the homoeostatic balance between an organism is upset
Can be due to external factors such as a change in temperature or intensity of light. Internal factors can change due to the release of hormones or psychological stress impact during the growth and development
Drugs can affect the activity of regulatory genes for example the drug thalidomide
C20) what is the definition of variation
As a result of mutations, changes to the genetic code which are random and constantly taking place
Essential for natural selection and therefore evolution
C20) what is chlorosis and how is it caused
When the leaves look pale or yellow occurs because the cells are not producing the normal amount of chlorophyll
Lack of chlorophyll reduces the ability of the plant to make food
Change in phenotype is the result of environmental factors
C20 what are three examples of causes of chlorosis
Lack of light- when a toy or garden to his left on a lawn, with the absence of light plants will turn off the chlorophyll production to conserve resources
Mineral deficiencies- a lack of iron or magnesium. Iron is needed as a cofactor by some of the enzymes that produce chlorophyll and magnesium is found at the heart of the chlorophyll molecule. Plants that lack these elements simply cannot make chlorophyll
Viral infections- when the virus is infected plants they interfere with the metabolic system of cells. Common symptom is yellowing of the infected tissue as they cannot support synthesis of chlorophyll
C20) How is animal body-mass an example of both genetic and environmental variation
The majority of cases dramatic variation in size such as obesity and being severely underweight or a result of environmental factors. (The amount of food eating, the quality of exercise
Obesity can be a result of the genetic make up of an organism
c20) how does interspecific variation occur
Is determined by sexual reproduction involving meiosis and the random fusion of gametes at fertilisation
C20) what is the definition of genotype
The combination of alleles an organism inherit for a characteristic
The genetic make up of an organism in respect of that gene
C20) what is the definition of phenotype
The obvious characteristics of an organism
The actual characteristics that an organism displays are often Influenced by the environment.
Any changes the environment makes to a person are referred to as a modification
C20 what is the definition of homozygous
They have two identical alleles for a characteristic
Homozygotes dominant- contains two dominant alleles for a particular phenotype
Homozygous recessive – contains two alleles for the recessive phenotype
C20) what is the definition of heterozygous
They have two different alleles for a characteristic
The allele for the dominant phenotype will be expressed
C20) what is the characteristic of continuous variation
Characteristic that can take any value within a range
There are two extremes, with every degree of variation possible in between
Height and weight
Many genes involved and the environment has a large effect
C20)What is the definition of co-dominance
Occurs when two different alleles occurs for a gene-both of which are equally dominant
As a result both alleles of the gene are expressed in the phenotype of the organism
C20) how do you write codominant crosses
A letter is chosen to represent the gene
The different alleles are then represented using a second letter which is shown as a superscript
C20) what is the definition of multiple alleles,
Some genes have more than two versions
An organism can only carry two versions of a gene
C20) how is sex determined
In humans sex is genetically determined
Humans have 23 pairs of chromosomes of varying sizes and shapes
In 22 pairs the members are the same
The 23rd pair known as the sex chromosome are different
Human females have 2 X chromosomes whereas males have an X and Y chromosome
The X-chromosome is large and contains many jeans not involved in sexual development.
The Y chromosome is very small containing almost no genetic information but does carry a gene that causes the embryo to develop as a male
C20) what are the characteristics of sex linkage
Some characteristics are determined by genes carried on the sex chromosomes
These jeans are called sex linked
As the Y-chromosome is much shorter than the X-chromosome, there are a number of genes in the X-chromosome that males only have one copy of
meaning that any characteristics caused by a recessive allele on the section of X-chromosome which is missing the Y-chromosome occurs frequently in males
Females will have a dominant allele present in the other X-chromosome
C20) what is the notation for sex linkage
The alleles are shown linked to the sex chromosome they are formed on with a superscript
C20) What is the importance of a dihybrid cross
Used to show the inheritance of two different characteristics caused by two genes which may be located on different pairs of homologous chromosomes. Each gene can have two or more alleles
C20 what is the expected ratio of a dihybrid cross
9:3:3:1
C20) what are the reasons for the actual ratio of a genetic cross different to the expected ratio
The fertilisation of gametes is a random process so in a small sample a few chance events can lead to a skewed ratio
The genes being studied are both on the same chromosome. These are known as linked genes. If no crossing over occurs the alleles for the two characteristics always be inherited together
C20)What is the meaning of autosomal linkage
Meaning that the genes are located on the same chromosome
Occurs on one of the 22 chromosomes
C20) what is the meaning of autosomal linkage
When the genes that are linked are found on one of the other pairs of chromosomes
Cannot undergo normal random Shuffling of alleles during meiosis and expected ratio will not be produced in the offspring
The linked genes are inherited effectively as a single unit
C20) What are the effects of autosomal linkage
Due to crossing over which results in the separation of some of the linked genes is the reason for the offspring not reaching the expected ratio
The closer the geans are on a chromosomes the less likely they are to be separated during crossing over and The fewer recombinant offspring produced
C20) What is the meaning of recombinant offspring
They have different combinations of alleles than either parent
Occurs as a result of crossing over
C20) What is the equation for recumbency frequency
Number of recombinant offspring/ total number of offspring
C20) What is the recombination frequency
A measure of the amount of crossing over that has happened in meiosis
A recombination frequency of 50% indicate that there is no linkage and the genes are on separate chromosomes
Less than 50% indicates that the gene is linked and the random process of independent assortment has been hindered
The degree of crossing over is determined by how close the genes are on the chromosome, the closer they are the less likely they will be separated
C20) What is the chi-squared test
Measures the size of the difference between the result you actually get (observed) and those you expected to get
Helps determine whether differences in the expected and observe results are significant or not
Used to test the null hypothesis: That there is no significant difference between expected and observed. Therefore is down to chance
C20) what does a large chi-squared value mean
There is a statistically significance between the observed and expected results
Probability that these differences are due to chance is low
Must be a reason rather than chance for the unexpected result
C20) What does it mean if the x2 value is less than the critical
There is no significant difference
We do not have significantly strong evidence to reject The null hypothesis
Therefore we accept the normal hypothesis, there is no significant difference between what we observed and what we expected
C20) What does it mean if the x2 value is more than the critical
There is a significant difference
We reject the null hypothesis
Some other factor, outside our ordinary expectation is likely to be causing a significant difference between expected and observed
C20 what is epistasis
The interaction of genes at different Loki
Gene regulation is a form of epistasis with regulatory genes controlling the activity of structural genes
Also occurs in biochemical pathways involving only structural genes
The characteristics of plants and animals that show continuous variation involve multiple genes and epistasis occurs frequently
C20) How does epistasis occur
The products of a gene in a multi step pathway codes for an enzyme
the product of the enzyme acts as a substrate for the next enzyme
If the gene that produces the enzyme is not expressed then the intermediate molecule for the next reaction in the sequence is not produced
Therefore a lack of substrate for the next enzyme in the pathway and so the expression of this gene will not be observed in the phenotype
The gene is effectively masked by the lack of expression of the previous gene in the pathway
C20) what is hypostatic and epistatic genes
A gene that is affected by another gene is said to be hypostatic
A gene that affects the expression of another gene is said to be epistatic
C20) What is dominant and recessive epistasis
2 recessive alleles at the same gene Loki would cause epistasis
A dominant allele of the same gene Loki would cause epistasis
C20) What is a gene pool
The sum total of all the genes in a population at a given time
The gene pool of a population include millions of jeans but you will look at the variation in the different alleles of a single gene within the gene pool
C20) what is the allele frequency
The relative frequency of a particular allele in a population
The frequency an allele occurs in a population is not linked to whether it is codes for a dominant or recessive characteristic and is not fixed
Changes over time in response to changing conditions
Evolution involves a long-term change in the Allelle frequency of a population