B6 - Inheritance, Variation & Response
Genetic Engineering
Selective Breeding
Cloning
Mutations
DNA
Reproduction
Inherited Disorders
Genetic Diagrams
Variation
Mendel
Evolution
Fossils
Speciation
Antibiotic-Resistant Bacteria
Classification
Genes
What is it?
Your DNA determines what inherited characteristics you have
Found in the nucleus of cells
It contains coded information - the instructions to put an organism together and make it work
It is made up of two strands coiled together in the shape of double helix
DNA stands for deoxyribonucleic acid
DNA is a polymer
Chromosomes are long molecules of DNA
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Chromosomes come in pairs
Chemical that makes up all of the genetic material in a cell
DNA determines what proteins the cell produces (eg. haemoglobin, keratin)
A small section of DNA found on a chromosome
Codes for a particular sequence of amino acids which are put together to make a specific protein
Only 20 amino acids are used, but they make up thousands of different proteins
Genes tell cells in what order to put the amino acids together
This, in turn, determines what type of cell it is (eg. a red blood cell, a skin cell)
Genome
Every organism has a genome
Scientists have worked out the complete human genome
The entire set of genetic material in an organism
This is a really important tool for science and medicine
Allows scientists to identify genes that are linked to different types of disease
Knowing which genes are linked to inherited genes could help us understand them better and help develop effective treatments
Scientists can look at genomes to trace the migration of certain populations around the world
All modern humans are descended from a common ancestor who lived in Africa, now humans are all over the planet
The human genome is mostly identical in all individuals, but as different populations migrated from Africa, they gradually developed tiny differences
By investigating this, scientists can work out when new populations split off in a different direction and what route they took
The Structure of DNA
Each nucleotide consists of one sugar molecule, one phosphate molecule, and one 'base'
DNA strands are polymers made up of lots of repeating units called nucleotides
The sugar and phosphate molecules in the nucleotides form a 'backbone' to the DNA strands
The sugar and phosphate molecules alternate
One of the four different bases - A, T, C or G - joins to each sugar
Each base links to a base on the opposite strand in the helix
Complementary base paring
A & T
C & G
The order of the bases in a gene decides the order of amino acids in a protein
Each amino acid is coded for by a sequence of three bases in the gene
Non-coding parts
The amino acids are joined together to make various proteins, based on the order of the bases
There are parts of DNA that don't code for proteins
They can switch genes on and off, so they control whether or not a gene is expressed (used to make a protein)
Protein Synthesis
The DNA, however, is found in the nucleus and can't move out of it as it is too big
So the cell needs to get the code from the DNA to the ribosome by copying it
To make proteins, ribosomes use the code in the DNA
A molecule called mRNA is made by copying the code from DNA
Proteins are made in the cell cytoplasm on ribosomes
mRNA acts as a messenger between the DNA and the ribosome carrying the code between them
The correct amino acids are brought to the ribosomes in the correct order by carrier molecules
When the protein chain is complete, it folds to form a unique shape
This enables the proteins to do their jobs
Function of Proteins
Hormones
Structural Proteins
Enymes
act as biological catalysts to speed up chemical reactions in the body
used to carry messages around the body (eg. insulin is a hormone released into the blood by the pancreas to regulate the blood sugar level)
are physically strong, eg. collagen is a structural protein that strengthens connective tissues (like ligaments and cartilage)
What is it?
Types
Deletions
Substitutions
Insertions
They change the sequence of the DNA bases
Most mutations have little/no effect on the protein and some will change it slightly so that its function/appearance is unaffected
The chance increases by exposure to certain substances or some types of radiation
Some mutations can seriously affect a protein
Occur continuously & spontaneously
If there is a mutation in the non-coding DNA, it can alter how genes are expressed
A random change in an organism's DNA
They are changes to the genetic code
They can be inherited
eg. when a chromosome isn't replicated properly
Produces a genetic variant (different form of the gene)
The sequence of bases codes for the sequence of amino acids, mutations can lead to changes in the protein that it codes for
Sometimes, the mutation will code for an altered protein with a change in its shape
This could affect its ability to perform its function
eg. if the shape of an enzyme's active site is changed, its substrate will no longer bind to it
eg. structural proteins, eg. collagen, could lose their strength if their shape is changed, making them useless at providing structure and support
This changes the way the groups of three bases are 'read', which can change the amino acids that they code for
Can change more than one amino acid as they have a knock-on effect on the bases further in the sequence
Where a new base is inserted into the DNA sequence where it shouldn't be
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A random base is deleted from the sequence
This changes that the way that the base sequence is 'read' and has knock-on effects further down the sequence
A random base is change to a different base
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Sexual
Asexual
Mother and father produce gametes be meiosis (eg. egg and sperm cells in animals)
In humans, each gamete has 23 chromosomes - half the number of chromosomes in a normal cell
Where genetic information from two organisms (a father and mother) is combined to produce offspring which are genetically different to either parent
The egg (from the mother) and the sperm cell (from the father) fuse together (fertilisation) to form a cell with the full number of chromosomes
Produces genetically different cells
Produces genetically identical cells (as there is only one parent)
Happens via mitosis - an ordinary cell makes a new cell by splitting in two
The new cell is a clone - it has exactly the same genetic information as the parent cell
There is no fusion of gametes, no mixing of chromosomes and no genetic variation
Bacteria, some plants and some animals reproduce asexually
Instead of having two of each chromosome, a gamete just has one of each
Because there are two parents, the offspring contains a mixture of their parents' genes
Flowering plants can reproduce in this way. they have egg cells, but their version of sperm is pollen
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|This is why the offspring inherits features from both parents - it's received a mixture of chromosomes from both
This mixture in genetic information produces variation in the offspring
Advantages & Disadvantages
Meiosis
Gamete Fusion
Process
In humans, it only happens in the reproductive organs (the ovaries in females, the testes in males)
Meiosis involves two cell divisions
Gametes are produced by meiosis
In the second division, the chromosomes line up again in the center of the cell
The pairs are then pulled apart so each new cell only has one copy of each chromosome (some of the father's and some of the mother's go into each new cell)
The arms of the chromosomes are pulled apart
In the first division, the chromosome pairs line up in the centre of the cell
You end up with 4 gametes, each with only a single set of chromosomes in it
After replication, the chromosomes arrange themselves into pairs
Each of the gametes is genetically different from the others because the chromosomes all get shuffled up during meiosis and each gamete only gets half of them, at random
Before the cell starts to divide, it duplicates its genetic information (forming two armed chromosomes - one arms of each chromosome is an exact copy of the other)
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As the embryo develops, these cells then start to differentiate into the different types of specialised cell that make up an whole organism
Mitosis repeats many times to produce lots of new cells in an embryo
After two gametes have fused during fertilisation, the resulting new cell divides by mitosis to make a copy of itself
Sexual reproduction advantages
Asexual reproduction advantages
Variation increases the chance of a species surviving a change in the environment
There only needs to be one parent
Therefore, it uses less energy than sexual reproduction as organisms don't need to find a mate
Therefore, its faster
Many identical offspring can be produced in favourable conditions
We can use selective breeding to speed up natural selection
As they are more likely to survive, they are more likely to breed successfully and pass the genes for the characteristic on. This is natural selection
A change in the environment may kill some individuals, it's likely that variation will have led to some of the offspring being able to survive in the new environment. They have a survival advantage
This is where individuals with the desired characteristic are bred to produce offspring that also have that characteristic
This means that we can increase food production (eg. by breeding animals that produce a lot of meat)
Allows us to produce animals with the desirable characteristcs
Examples
Fungus
Plants
Malaria
The parasite reproduces sexually when it's in the mosquito
It reproduces asexually when it's in the human host
When a mosquito carrying the parasite bites a human, the parasite can be transferred to the human
Caused by a parasite that's spread my mosquitos
Spores can be produced sexually and asexually
Asexually-produced spores form fungi that are genetically identical to the parent fungus
They release spores which can become new fungi when they land in a suitable place
Sexually-produced spores introduce variation and are often produced in response to an unfavourable change in the environment, increasing the chance that the population will survive the change
eg. Daffodils
eg. Strawberry plants
Loads of species of plant produce seeds sexually, but can reproduce asexually
They produce 'runners' which are stems that grow horizontally on the surface of the soil away from the plant
At various points along the runner, a new strawberry plant forms that is identical to the original plant
Each new bulb can grow into a new identical plant
New bulbs can form from the main bulb and divide off
Gender
The 23 pair are labelled XY or XX
When making sperm, the X and Y chromosomes are drawn apart in the first division in meiosis
The other 22 are matched pairs that just control characteristics
Your 23 pair of chromosomes determines your sex
Males have an X and a Y chromosome: XY
Females have two X chromosomes: XX
The Y chromosome causes male characteristics
The XX combination allows female characteristics to develop
A similar thing happens when making eggs but the original cell has two X-chromosomes, so all the eggs have one X-chromosome
There's a 50% chance each sperm cell gets an X-chromosome, and a 50% chance it gets a Y-chromosome
Possible Gamete Combinations
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The probability of getting a boy or a girl is the same
Genetic diagrams are just models used to show all the possible genetic outcomes when you cross together different genes or chromosomes
You can draw a genetic diagram to find the probability of getting a boy or a girl
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Key words
Homozygous
Genotype
Heterozygous
Phenotype
Allele
Different version of the same gene
If two alleles for a particular gene are different
If two alleles for a particular gene are the same
What genes you have
What genes are being expressed
Dominant
Need 1 copy of the gene to be expressed
Recessive
Need 2 copies of the gene to be expressed
Genes
Heterozygous
All genes exist in different alleles
Different genes control different characteristics
What genes you inherit control what characteristics you develop
Some characteristics are controlled by a single gene (eg. mouse fur colour and red-green colour blindness in humans)
Most characteristics are controlled by several genes interacting
You have 2 alleles of every gene in your body - one on each chromosome in a pair
If the two alleles are different, only one can determine what characteristic is present
This is the dominant allele (represented by a capital letter)
The other allele is recessive (represented by a lower case letter)
For an organism to display a recessive characteristic, both allels must be recessive (eg. cc)
For an organism to display a dominant characteristic, it can either be CC or Cc as the dominant allele overrules the recessive one
Genetic Diagrams
Show the possible alleles of offspring
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Cystic Fibrosis
Polydactyly
Embryo Screening
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For a child to have the disorder, both parents must be carriers or have the disease
It's a genetic disorder of the cell membranes
Caused by a recessive allele
Results in the body producing lots of thick mucus in the air passages and in the pancreas
It doesn't usually cause any problems so isn't life-threatening
It can be inherited if just one parent carries the defective allele
It's a genetic disorder where a baby's born with extra fingers or toes
The parent that carries the allele will also have the disease as it is dominant - there are no carriers
Caused by a dominant allele
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Screening for Genetic Disorders
SEE Implications
For
Against
Treating disorders costs the taxpayer a lot of money
There are laws to stop it going to far (eg. parents can't select the sex of their baby)
It will help stop suffering
It implies that people with genetic problems are 'undesirable' - this could increase prejudice
There may come a point where everyone wants to screen their embryos so they can pick the most 'desirable' (eg. a blue-eyed, blond-haired, intelligent boy)
It's expensive
This, however, is very controversial
Embryos produced by IVF would be destroyed if they had 'bad' alleles
It's also possible to get DNA from an embryo in the womb and test that for disorders
Screening could lead to a decision to terminate the pregnancy for embryos in the womb
Many genetic disorders can be detected in the way (eg. cystic fibrosis)
Before being implanted, it's possible to remove a cell from each embryo and analyse its genes
During IVF (in vitro fertilisation), embryos are fertilised in a lab, and then implanted into the mother's womb
Conclusions
Scientific Advances
Pea Plants
Pea Plant Experiment
His results became the foundation of modern genetics
His results were published in 1866
Mendel found out that the height characteristic was determined by separately inherited "hereditary units" passed on from each parent
Noted how characteristics in plants were passed on from one generation to the next
Who was he?
Trained in mathematics and natural history at the University of Vienna
Gregor Mendel was an Austrian monk
Second cross
First cross
He bred pea plants together to see the correlation with the offspring
Parents: a tall pea plant and a dwarf pea plant are crossed
Offspring: all tall pea plants
Parents: two tall pea plants from the 1st set of offsrping
Offspring: three tall pea plants, one dwarf pea plant
The ratio of tall and dwarf plants in the offspring showed that the units for tall plants, T, was dominant over the unit for dwarf plants, t.
Mendel reached 3 important conclusions
1) Characteristics in plants are determined by "hereditary units"
2) Hereditary units are passed on to offspring unchanged from both parents, one unit from each parent
3) Hereditary units can be dominant or recessive
His work was a starting point as the observations of many different scientists have contributed to our understanding of genes
This is because his work was new to the scientists of the day
The significance of his work was only realised after his death
They didn't have the background knowledge to properly understand his findings - they din't know about genes, DNA and chromosomes
In the early 1900s, scientists realised that they were striking similarities in the way that chromosomes and Mendel's "units" acted
In 1953, the structure of DNA was determined
In the late 1800s, scientists becamse familiar with chromosomes
They were able to observe how they behaved during cell division
Based on this, it was proposed that the "units" were found on the chromosomes
These "units" are now known as genes
This allowed scientists to find out exactly how genes work
Genetic variation
Environmental variation
Differences within organisms
Mutations
There are 2 types of vartiation - genetic & environmental
There is variation within as well as among species
Caused by genes
All plants/animals have characteristics that are in some way similar to their parents
This is because an organism's characteristics are determined by the genes inherited from their parents
These genes are passed on in gametes, from which the offspring develop
Most animals (and some plants) get some genes from the mother and some from the father
This combining of genes causes genetic variation (sexual reproduction)
eg. a plant grown in plenty of sunlight would be luscious and green, but the same plant grown in darkness would grow tall and spindly and have yellow leaves
The environment, inc. the conditions that organisms live and grow in, cause differences between members of the same species
They are changes to the sequence of bases in DNA which can lead to changes in the protein a gene codes for
Although very rare, mutations can result in a new phenotype being seen in a species
Mutations introduce variation
If the environment changes, and the new phenotype makes an individual more suited to the new environment, it can become more common through the species - natural selection
Genes are the codes inside your cells that control how you're made
Some characteristics are determined only by genes
In animals these include: eye colour, blood group and inherited disorders (eg. haemophilia or cystic fibrosis)
Theory: all of today's species have evolved from simple life forms that started to develop over 3 billion years ago
Survival of the Fittest
He also knew that organisms have to compete for limited resources in an ecosystem
He concluded that the organisms with the most suitable characteristics for the environment would be more successful competitors and would be more likely to survive - survival of the fittest
Darwin knew that within a species there is variation in their characteristics (phenotypic variation)
The organisms that survive are more likely to reproduce and pass on the genes for the characteristics that made them successful to their offspring
He used observations from a round-the-world trip as well as experiments, discussions and new knowledge of fossils and geology to suggest the theory
The organisms less well adapted would less likely survive and reproduce, so they are less likely to pass on their genes to then next generation
Charles Darwin came up with the theory of evolution
Over time, beneficial characteristics become more common in the population and the species changes - it evolves
New Discoveries
We now know that phenotype is controlled by genes
Darwin's theory wasn't perfect because the relevant scientific knowledge wasn't available at the time
He couldn't give a good explanation for why new characteristics appeared or exactly show individual organisms passed on beneficial adaptations to their offspring
New phenotypic variations arise because of genetic variants produced by mutations
Extinction
Reasons for extinction
The fossil record contains many species that are extinct
Is when no individuals of a species remain
A new disease kills them all
They can't compete with another/new species for food
A new predator kills them all (eg. humans hunting them)
A catastrophic event happens that kills them all (eg. a volcanic eruption/collision with an asteroid)
The environment changes too quickly (eg. destruction of habitat)
Controversy
Darwin couldn't explain why these new, useful characteristics appeared or how they were passed on from individual organisms to their offspring
There wasn't enough evidence to convince many scientists
It went against common religious beliefs about how life on Earth developed
Darwin published the book "On the Origin of Species" in 1859 but it was very controversial because:
It was the first plausible explanation for the existence of life on earth without the need for a "Creator"
Back then he didn't know anything about genes/mutations - they were discovered about 50 years after his theory was published
Because not many other studies had been done into how organisms change over time
Lamarck
eg. if a rabbit used its legs to run a lot (to escape predators), then its legs would get longer. The offspring of that rabbit would then be born with longer legs
eg. he though that if a characteristic was used a lot by an organism it would become more developed during it's lifetime and the offspring would inherit the acquired characteristic
Jean-Baptiste Lamarck (1744-1829) argued that changes that an organism acquired during its lifetime will be passed on to its offspring
At the time, there were different scientific hypotheses about evolution
Different Hypotheses
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