topic 6- inheritance, variation and evolution

dna

chromosomes are long molecules of dna

dna is the chemical that genetic material in a cell is made up from

it contains code instructions that make an organism work

dna determines the inherited characteristics you have

dna is found in the nucleus of animal and plant cells in chromosomes

chromosomes come in pairs

dna is a polymer- made of two strands in a double helix

gene codes for specific protein

a gene is a small section of dna found on a chromosome

each gene codes for a particular sequence of amino acids which are put together to form a specific protein

only 20 amino acids are used, but they make thousands of different proteins

genes simply tell cells in what order to put amino acids together

dna determines what proteins the cell produces and what type of cell it is

every organism has a genome

genome= the entire set of genetic material in an organism

it is important to understand:
-allows scientists to identify genes linked to diseases
-knowing what genes causes inherited diseases may help us find cures for them
-scientists can use genome to trace migration of people around world

the structure of dna and protein synthesis

dna is made up of nucleotides/ bases

dna strands are polymers made up of repeating units called nucleotides

each nucleotide consists of one sugar molecule, one phosphate molecule and one 'base'

the sugar and phosphate molecules form backbone of dna strands as they alternate. one of 4 bases (A,T,C,G) join to each sugar

each base links to another base on opposite strand of helix

A with T and C with G- complementary base pairing

its the order of amino acids in a gene that decides the order of amino acids in protein

the amino acids are joined to make various proteins, depending on order of genes bases

some parts of dna don't code for protein, they can control whether other genes are expressed

RNA carries code for ribosomes

proteins are made in ribosomes in cytoplasm

to make proteins ribosomes use code in dna - dna cant move out of nucleus so rna copies form of dna

rna acts as a messenger between dna and ribosome- carries code between the two

the correct amino acids are bought to ribosomes in correct order by carrier molecule

proteins have many different functions

when a chain of amino acids is formed it folds into a unique shape which allows the protein to perform the task its meant to

enzymes= act as biological catalysts (speed up reactions)

hormones= used to carry messages around body

structural proteins= are physically strong e.g. collagen strengthens connective tissue (ligaments)

mutations

mutations are changes to genetic code

mutation is random change in an organisms dna (can be inherited)

they occur continuously but chance can be increased by exposure to radiation and certain substances

mutations change sequence of dna bases in a gene which produces a genetic variant, as dna codes for a sequence of amino acids it can change the protein coded for

most mutations have very little/no effect on protein

some mutations can seriously effect protein, shape can be altered, could effect ability to perform function

bad change= shape of active site might be changed so substrate will no longer bind, structural proteins will lose strength

different forms of mutation

insertions

= when a new base is inserted into dna base sequence where it shouldn't be

an insertion changes the way groups of 3 bases(which code for a particular amino acid) are read which can change what amino acids code for

insertions can change more than one amino acid as have knock on effect on bases further on in sequence

deletions

=when a random base is deleted from dna base sequence

they change the way that the base sequence (3 bases) is read and have knock on effects further on in sequence

substitutions

= when a random base in the dna base sequence is changed to a different base

reproduction

sexual reproduction produces genetically different cells

sexual reproduction= when genetic information from 2 different organisms is combined to produce offspring that are genetically different to either parent

the mother and father produce gametes by meiosis (egg and sperm in animal s

in humans each gamete has 23 chromosomes- half normal number

the egg and sperm fuse together by fertilization to form a cell with full number of chromosomes

sexual reproduction involves the fusion of male and female gametes because there are 2 parents, offspring has a mixture of parents genes

the mixture of genetic material creates variation in offspring

asexual reproduction produces genetically identical cells

there is only 1 parent so offspring are genetically identical

happens by mitosis - and ordinary cell makes new cell by dividing in 2

clone of parent

bacteria, some plants and animals produce asexually

meiosis

gametes are produced by meiosis

to make a gamete which has half normal number of chromosomes, cells divide by meiosis

this process involves 2 cell divisions

in humans it only happens in reproductive organs (ovaries, testes)

meiosis steps

1) before cell divides it duplicates genetic info forming two armed chromosomes which rearrange themselves into pairs

2) in first division chromosomes line up down centre of cell

3) the pairs are pulled apart so each new cell has only 1 copy of each chromosome, some of fathers some of mothers in new cell

4) in second division the chromosomes line up again down centre of cell, the arms of chromosome are pulled apart

5) you get 4 gametes each with only a single set of chromosomes in it, each gamete is genetically different from others, random which chromosomes they get

more on reproduction

sexual reproduction has advantages over asexual

offspring of sexual have mixture of two sets of chromosomes, which produces variation in offspring

variation increases chance of species surviving a change in environment

natural selection occurs best in sexual reproduction

we can use selective breeding to speed up natural selection and get desired characteristics

asexual over sexual advantages

only needs one parent

uses less energy, as organisms don't have to find mate

faster

many identical offspring can be produced in favorable conditions

some organisms can do both

malaria - the parasite produces sexually while in mosquito and asexually while in human host

fungus - spores can be spread asexually and sexually

x and y chromosomes

control whether your male or female

the 23rd pair are labelled XY or XX

these chromosomes decide your sex

males= XY

female= XX

there is a 50% during the first division of meiosis each sperm cell gets an x or y chromosome

genetic diagrams

some characteristics are controlled by single genes

what genes you inherit control what characteristics you develop

different genes control different characteristics, some by a single gene e.g. mouse fur colour

however most are controlled by several genes interacting

all genes exist in different versions called alleles

you have two alleles of each genes in the body (one on each chromosome pair)

homozygous= when organism has 2 alleles that are the same

heterozygous= when two alleles for a particular gene are different

dominant= allele expressed if one copy is present

recessive= allele expressed if two copies of allele are present

genotype= genetic alleles present, combination of alleles that can be expressed as phenotype

phenotype= physical characteristic, physical appearance resulting from inherited alleles

genetic diagrams show possible alleles of offspring

PUNNET SQUARES

inherited disorders

cystic fibrosis is caused by recessive allele

people with 1 copy of the allele cant get it- they are carriers

for a child to have the disorder, the parents must both be carriers or have the disease themselves

polydactyly is caused by a dominant allele

caused by a dominant allele, can be inherited if just one parent carries defective allele

the parent that has defective allele will also have the disease as its dominant

theres a 50% chance of child getting it

embryos can be screened for genetic disorders

during IVF embryos are fertilized and implanted in womb

before being implanted it is possible to remove a cell from each embryo and analyze its genes

many genetic disorders can be detected in this way

many ethical, economic and social concerns about it

all embryos with bad alleles are destroyed

for= help stop people suffering, treating disorders is expensive for government, there is a lot of laws stopping it from going too far

against= implies that people with genetic problems are undesirable- causes prejudice, its expensive, cause playing god

the work of mendel

did genetic experiments with pea plants

Mendel had shown that the height characteristic was determined by separately inherited 'hereditary units' passed on from each parent

the ratio showed that tall T was dominant to short t

3 important conclusions

characteristics in plants were determined by 'hereditary units'

'hereditary units' are passed onto offspring unchanged from both parents, one unit from each parent

'hereditary units' are dominant or recessive

understanding his work

wasn't understood by people of his time

in 1800's scientists became familiar with chromosomes and understood cell division

in the 20th century realized 'hereditary units' were chromosomes

in 1953 the structure of dna was determined

variation

organisms of the same species have differences

these differences are called variation within a species

2 types of variation

genetic variation

environmental variation

different genes cause genetic variation

all organisms have characteristics similar to their parents

an organisms characteristics are determined by the genes inherited from their parents

the genes are passed on in gametes, from which the offspring develop

most organisms get some genes from their father and some from their mother

this combining of genes from 2 parents causes genetic variation- no two of the same species are genetically identical

some characteristics are only inherited by genes (blood group, inherited disorders)

characteristics are also influenced by the environment

environmental variation

environmental variation covers a wide range of differences (suntan)

most characteristics are due to genes and environment

e.g. the maximum height someone grows to depends on their genes but whether they grow to that height depends on environment

mutations introduce variation

mutations are changes to the sequences of bases in DNA which can change the protein the gene codes for. most mutations have no effect so don't effect the phenotype

if the environment changes and the new phenotype makes an individual more suited to the new environment it can become common throughout a species by natural selection

some mutations have a small influence and alter the phenotype slightly. however some mutations result in a new phenotype

evolution

THEORY OF EVOLUTION= all of today's species have evolved from simple life forms that started to develop over 3 billion years ago

survival of the fittest

created by Charles Darwin

he used observations from his trip around the world to suggest the theory of evolution by natural selection

Darwin knew that organisms in a species have a wide phenotype variation. he also knew that organisms compete for limited resources in an ecosystem

Darwin realized that organisms which have characteristics most suited to their environment would be more likely to survive

the successful organisms that survive are more likely to reproduce so they will pass on their genes to next gem

the organisms that are less well adapted are less likely to survive and reproduce so they are less likely to pass on their genes to the next gen

overtime beneficial characteristics become more common in the population and the species evolves

new discoveries helped develop this theory

Darwin's theory could not explain why new characteristics appeared or exactly how organisms passed on beneficial adaptations to their offspring

we now know the phenotype is controlled by genes. new phenotypic variations arise from genetic variants caused by mutations

the development of new species is called SPECIATION

Over a long time the phenotype of organisms can change so much because of natural selection that a new species is formed

speciation happens when populations of the same species change enough to become reproductively isolated - they cant interbreed to produce fertile offspring

extinction is when no individuals of a species remain

reasons for it

environment changes too quickly

a new predator kills them all

a new disease kills them all

they cant compete with another new species for food

a catastrophic event happens that kills them all

more about evolution

not everyone agreed with Darwin

it went against common religious beliefs about how the earth developed

Darwin could not explain why these new useful characteristics appeared or how they were passed on from individuals to their offspring

there wasn't enough evidence to convince many scientists

Lamarck's ideas

he argued that changes in an organism will be passed on to its offspring

he thought that if a characteristic was used a lot by an organism then it would become more developed during its lifetime and its offspring would inherit it

scientists developed different hypotheses from observations

Lamarck's hypothesis was rejected because experiments did not support his hypothesis

the discovery of genetics supported Darwin's idea because it showed how organisms with a beneficial characteristic could pass it on

other evidence was found by looking at fossil record which showed how organisms changed overtime

selective breeding

its simple

selective breeding= when humans artificially select the plants or animals that are going to be bred so that the gene's for a particular characteristic remain

reasons

to develop more useful features

to make an organism more attractive

the process

1) from existing stock select organisms that have desired charcteristics

2) breed them with eachother

3) select the best of the offspring and breed them together

4) continue process over several generations and the desirable trait gets stronger- eventually all offspring will have that characteristic

the main drawback is reduction in gene pool

reduces number of alleles in a population- this is because the best are bred together (which are closely related) this is inbreeding

inbreeding can cause health problems because there's more chance of organism inheriting genetic defects when the gene pool is limited

there can also be problems if a new disease appears because there's not much variation in a population. increases likelihood of all population dying

genetic engineering

genetic engineering transfers genes between organisms

genetic engineering= to transfer a gene responsible for a desirable characteristic from one organisms genome into another organism so it has that desired trait

1) a useful gene is isolated (cut) from one organism's genome using enzymes and is inserted into a vector

2) the vector is usually a virus or a bacterial plasmid depending on the type of organism that the gene is being transferred into

3) when the vector is introduced to the target organism, the useful gene is inserted into its cells

4) in some cases the transfer of the gene is carried out when the organism receiving the gene is at an early stage of development . this means the organism develops with the characteristic coded for by the gene

controversial

concerns about long term effects

side effects on human beings

pros

increase the yield of food

people who live in developing countries who are not getting required nutrients. GM crops could be engineered to contain them

GM crops are already being grown in some places and have had no problems

cons

GM crops will effect number of wild flowers- reducing biodiversity

GM crops might not be safe and effects on human health long term have not been investigated

transplanted gene's might get out into natrual environment

cloning

plants can be cloned from cuttings or tissue culture

tissue culture

where a few plant cells are put in a growth medium with hormones

they grown into new plants (clones of the parent)

they can be grown quickly in very little space

cuttings

gardeners can take cuttings from good parent plants and then plant them to produce genetically identical copies of the parent plant

these plants can be produced quickly and cheaply

you can make animal clones using embryo transplants

sperm cells are taken from a male organism and an egg is taken from female organism of same species

the sperm is used to artificially fertilize the egg. the embryo then develops and splits many times to form many clones before any cells are specialized

these cloned embryos can be implanted into lots of other female organisms from that species where they produce genetically identical offspring

adult cell cloning

adult cell cloning involves taking an unfertilized egg and removing its nucleus. this nucleus is them removed from an adult body cell and is inserted into the empty egg

the egg cell is then stimulated with an electric shock which makes it divide

when the embryo is a ball of cells its implanted into the womb of an adult female . it grows into an identical clone of the original adult body cell as it has the same genetic info

issues surrounding cloning

cons

pros

cloning could be used to preserve an endangered species

however study of animal clones could improve understanding of the embryo and aging related disorders

it can reduce the gene pool which could result in a species being wiped out if a disease was introduced

cloned animals could be less healthy than normal animals

concerns that humans could be cloned in the future

fossils

fossils= remains of organisms from thousands of years ago found in rocks

fossil formation

gradual replacement by minerals

things like teeth, bones don't decay easily so last a long time when buried

they're eventually replaced by minerals as they decay forming rock like substances shaped like the original part

the surrounding sediments also turn to rock but the fossil stays distinct inside the rock and eventually someone digs it up

from casts and impressions

sometimes fossils are formed when an organism is buried in a soft material like clay. the clay later hardens around it and the organism decays leaving a cast of its self

from preservation in places where no decay happens

in amber and tar pits there is no oxygen or moisture so decay organisms can't survive

in glaciers its too cold for decay microbes to work

peat bogs are too acid for decay microbes

no one knows how life began

lots of hypotheses suggesting how life came along

no support for hypotheses because of lack of evidence

many early forms of life were soft bodied which means they decay completely- fossil record is incomplete

fossils that did form millions of years ago may have been destroyed by geological activity

speciation

speciation is the development of a new species

a species is a group of similar organisms that can reproduce to produce fertile offspring

speciation occurs when populations of the same species become so different that they can no longer successfully interbreed to produce fertile offspring

isolation and natural selection may lead to speciation

isolation= where populations of a species are separated. this can happen due to a physical barrier (flood)

conditions on either side of barrier might be slightly different

because of the environments are different, different characteristics will become common in each population due to natural selection

1) each population shows genetic variation because of range of alleles

2) in each population individuals with traits that make them more adapted to their environment are more likely to survive and breed

3) so the alleles that control the beneficial characteristics are more likely to be passed on to next gen

wallace

Wallace was a scientist who contributed to idea of speciation

together with Darwin they published work on natural selection in 1858. which prompted Darwin to write 'on the origin of species'

observations made by Wallace as he travelled the world

he did work on warning colours of prey which is used to deter predators

antibiotic resistant bacteria

bacteria can evolve and become antibiotic resistant

bacteria can develop random mutations in their dna which can lead to changes in the bacteria's characteristics. this can lead to antibiotic resistant strains forming as the gene for antibiotic resistance becomes more common in the population

bacteria reproduce and evolve quickly

for bacteria antibiotic resistance is and advantage as its better able to survive and reproduce

the bacteria easily spread as there is no treatment

resistant bacteria are becoming more common

M R S A

antibiotic resistance is becoming more common

the problems of antibiotic resistance is getting worse

caused by

over use/ prescription of antibiotics

people not finishing their courses

classification

kingdom, phylum, class, order, family, genus, species

Linnaean system