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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