Genetic diversity + adaptation - Chapter 9 +biodiversity- Chapter 10 Flashcards
What is gene mutation ?
Any change to one or more nucleotide bases or a change in the sequence of bases in the DNA
When can gene mutation arise, and what do they include ?
They can arise spontaneously during DNA replication and include base substitution, base deletion or base addition
What is location ?
Germline in gametes or somatic in body cells
What are the two types of gene mutations ?
1) Point mutation
2) Frameshift mutations
What is a point mutation ?
A change in a single nucleotide (also known as substitution)
What is a frameshift mutation ?
Addition or deletion of nucleotides resulting in a shift of the reading frame
What are the three types of point mutations ?
1) Silent point mutation
2) Nonsense point mutation
3) Missense point mutation
What is a silent mutation ?
There is no change to the primary structure of the polypeptide despite the change in a nucleotide base
[If a substitution does not change the amino acid)
Why is a silent mutation possible?
Due to the degenerate nature of the genetic code.
Mutation would have no effect on the production of the final polypeptide
What is a missense mutation ?
There is a change to a single amino acid at the point of the mutation
[If a substitution changes the amino acid ]
What is the effect of a missense mutation ?
It will be determined by the role of the amino acid in the final polypeptide.
( May be that it was involved in the formation of bonds to structure the active site of an enzyme )
What does a missense mutation occur due to ?
A mutation in the hameoglobin gene
What is a nonsense mutation ?
The new codon is now a stop codon so translation stops at the point of mutation
[If a substitution changes the amino acid to a “stop” ]
What does a nonsense mutation lead to ?
The premature end to the synthesis of a polypeptide
What is a reading frame?
A way of dividing the sequence of nucleotides on a DNA/RNA molecule into consecutive,
non- overlapping triplets
What is deletion mutation (type of frameshift mutation) ?
A base is lost /deleted
This occurs when a nucleotide is lost from the DNA sequence
What can deleting a base lead to ?
The codons not being read properly.
This is due to the fact bases are read in triplets, therefore the subsequent bases would all be shifted forward by one base ( a frameshift )
Usually the amino acid sequence of the ‘new’ code will be entirely different
What will happen to the reading frame + bases when deleting a base ?
The reading frame changes, the bases don’t move
What is base insertion (type of frameshift mutation) ?
The insertion (addition) of a single nucleotide base
[ an extra base is added/ inserted ]
What will happen to the amino acid sequence in base insertion + deletion mutation ?
The amino acid sequence codes for something different
Define the term mutagenic agent ?
A factor that increases the rate of mutations
What is the importance of meiosis?
In sexual reproduction, two gametes fuse to give rise to new offspring.
It is responsible for the formation of gametes
What are the gametes in humans ?
Egg + sperm
What are the gametes in plants ?
Egg + pollen
What is the difference between meiosis compared to mitosis?
Meiosis: two nuclear divisions, haploid cells (one set of chromosomes), introduces genetic variation
Mitosis: one nuclear division, diploid cells ( two sets of chromosomes ), create genetically identical cells
What is the process in crossing over of chromatids ?
- Homologous pairs of chromosomes associate/form a bivalent
- Chiasmata form
- Equal lengths of (non-sister) chromatids / alleles are exchanged
- Producing new combinations of alleles
[When homologous chromosome pairs line up opposite each other at the equator in meiosis 1, the non -sister chromatids of the two chromosomes wrap around each other : called crossing -over
- This puts tension on the chromatids, causing pairs of the chromatids to break off, and exchange between the homologous chromosomes
- because the chromosomes have exchanged DNA, that means they exchange alleles, so crossing over results in new combinations of alleles ]
What is a bivalent ?
The attached pair of chromosomes
What is chiasmata ?
The points where the chromatids are joined
What causes genetic variation in meiosis?
[Chiasmata can form at multiple points so a large number of alleles can be exchanged]
This exchange of alleles is a major source of genetic variation in meiosis
Unlike mitosis, where does cell division by meiosis only take place in ?
Sex organs, producing gametes
What does meiosis produce
4 haploid cells from a single diploid cell
What type of chromosomes do gametes have ?
Individual chromosomes, not pairs
Why is it important that gametes are haploid cells?
During fertilisation, gametes fuse together to produce a fertilised egg (zygote)
What are homologous chromosomes ?
Chromosomes of similar length with the same genes at the same loci
What is independent segregation (detailed explanation ) ?
In meiosis 1, homologous pairs of chromosomes line up opposite each other at the equator of the cell.
It is random which side of the equator the paternal + maternal chromosomes from each homologous pair lie.
These pairs separated, so one of each homologous pair ends up in the daughter cell
What does independent segregation create?
A large number of possible combinations of chromosomes in the daughter cells produced
How are the large number of possible combinations of chromosomes in the daughter cells produced calculated ?
2^n
2= chromosome pairs (2 chromosomes each time )
n = number of homologous pairs
What happens in meiosis 1 and 2?
In meiosis 1, homologous chromosomes are separated from each other
In meiosis 2, sister chromatids are separated from each other, producing 4 haploid cells
What are the stages of meiosis ?
Interphase 1, prophase 1, metaphase 1, anaphase 1, telophase 1, cytokinesis, prophase 2, metaphase 2, anaphase 2, telophase 2, cytokinesis
What is interphase 1 ?
[same stage as mitosis stage ]
Before meiosis starts, the cell will have been through interphase
During interphase, DNA replicates (S phase), the cell copies the chromosomes and the organelles (chromosomes not visible)
First the cell enters meiosis 1
What happens in prophase 1?
- the chromosomes condense and become visible
- homologous chromosomes link together forming chiasmata
- At this point, crossing over can take place, exchanging alleles between homologous chromosomes
- the nuclear membrane also breaks down
- the centrioles move to opposite poles of the cell
- spindle fibres also start to assemble into the spindle apparatus
What happens in metaphase 1?
The pairs of homologous chromosomes are now lined up on the equator of the spindle apparatus
What happens in anaphase 1?
- The spindle fibres shorten and the homologous chromosomes move towards opposite poles
~~> for this to happen, the chiasmata between homologous chromosomes break
What happens in telophase 1?
- The chromosomes have now reached the poles of the cell
- At this point, the nuclear membranes reform and the chromosomes uncoil back to their chromatin state
What happens in cytokinesis?
- cell undergoes cytokinesis, dividing into two cells
~~> these cells are haploid, because they no longer contain pairs of homologous chromosomes
What happens in prophase 2?
- the chromosomes condense + become visible again
- Again the nuclear membrane breaks down and spindle fibres begin to develop
What happens in metaphase 2?
- the chromosomes are lined up on the equator of the spindle apparatus
What happens in anaphase 2?
- the centromere of each chromosome divides
- the spindle fibres shorten
- the sister chromatids are now pulled towards opposite poles of the cell
What happens in telophase 2 ?
- the sister chromatids have reached the poles of the cells : chromosomes
- the nuclear membranes reform + the chromosomes uncoil back to their chromatin state
What happens in cytokinesis, after meiosis 2 ?
Each cell undergoes cytokinesis to produce 2 haploid cells
How can mutations in the number of chromosomes arise spontaneously by ?
Chromosome non-disjunction during meiosis
What does non - disjunction mean?
When the chromosomes or chromatids do not split equally during anaphase
(Detailed explanation :
Sometimes the homologous pairs of chromosomes/chromatids - depending on stage of meiosis
fail to separate leading to the production of gametes with one too many or one too few chromosomes
What are 2 possibilities of chromosome mutation ?
- Aneuploidy
- Polyploidy
What is aneuploidy ?
Changes in the number of individual chromosomes leads to aneuploidy (n+1 or n-1) , happens usually in anaphase