Cell Differentiation

GENE EXPRESSION
 In a multicellular organism every cell contains the same genetic information but different cells perform different
functions
 Cells differentiate and develop into different tissues and organs
 As cell differentiation occurs, different types of cells produce more and more proteins which are specific to their
cell type
 Their shape and arrangement of the organelles also differ
 Almost all cells have a number of 'housekeeping' proteins in common. These are the proteins found in the
structures which are common to most cells
 Examples of such proteins include the structural proteins of the membranes and the enzymes needed in
cellular respiration
 Each cell type produces specific proteins that relate to the function of the cell means that different genes must
be expressed in different types of cell
 Example, insulin producing genes are only expressed in islets of Langerhans
HOW DO GENES CONTROL THE PHENOTYPE?

 Each chromosome has several genes each of which codes

for a particular protein
 Each gene is found at a particular place on the chromosome
and this location is known as the locus of the gene
 Each gene has at least two different forms known as alleles
MULTIPLE ALLELES
 Some features are determined by multiple alleles; there are more than two possible variants
 Any one diploid individual will only inherit two of them
Example, ABO blood group system
- Three possible alleles - A, B and O
- Both A and B are dominant to O
- Blood group O is recessive but A and B are codominant; both alleles are expressed and produce a protein
- So different combinations of alleles give you different blood groups
GENE LINKAGE
 Genetic linkage is when alleles that are close together on a chromosome are inherited together during
meiosis
 The closer the genes is on chromosomes, the lower the chance of crossing over occurring between them so it is
more likely to be inherited together
 Genetically linked is when genes whose loci are closer to each other are less likely to be separated on to
different chromatids during crossing over
POLYGENIC TRAITS
 Monohybrid genetic crosses involve only one gene locus
 Most characteristics are determined by several different genes
at different loci and in many cases, interactions with the
environment add further variety; polygenic
 The inheritance of two different genes is completely
independent in a process called digenic (dihybrid) inheritance
 Digenic crosses are breeding experiments
involving the inheritance of two pairs of
contrasting characteristics at the
same time
Monohybrid Inheritance
There are some occasions when the ratios are not what you expect. There can be several explanations for this:

 small sample size

 experimental error- especially when working with organisms such as Drosophila. which can escape or die
relatively easily
 the process is random and so sometimes the unexpected happens
 unexpected ratios can mean the genes being examined are both on the same chromosome (they are linked)
RATIOS IN DIHYBRID INHERITANCE
 The crossing of two non-linked heterozygotes in a dihybrid cross always results in a 9: 3: 3: I ratio of
phenotypes
 The crossing of two linked genes
 Linkage in fruit flies
IDENTIFYING LINKED GENES
 Genes close together on a chromosome will tend to
stick together and be inherited as a pair
 This is called genetic linkage

 Genes that are far apart on a chromosome or on

different chromosomes will follow the law of independent
assortment
 With completely unlinked genes, two genes are found on separate chromosomes and equal numbers of
gametes are formed which contain either the parental combinations of alleles or a different combination of
alleles (recombinant types)
 When genes are closely linked; located close to each other on the chromosome, then when gametes are
formed, recombination rarely occur during meiosis
 If the genes are more loosely linked, located further apart on the chromosome, then the number of
recombination events in meiosis will be higher. The tightness of the linkage of a pair of genes is related to how
close together the linked genes are located on the chromosome
 Genes that are very close together are less likely to be split during the crossing over stage of meiosis than
genes that are further apart. If two or more genes are positioned very close together on a chromosome, they
may be so tightly linked that they are never split up during meiosis and so the gametes formed will always be
of the parental types
 If the genes are further apart, crossing over between them
is more likely to occur. Although in the majority of cases they
will be passed on as a parental unit, sometimes they will be
mixed and recombinant gametes produced, which will be
reflected in the offspring
 INTERACTIONS BETWEEN GENES AND THE ENVIRONMENT
 Genotype is the genetic makeup of an organism or a cell; combination of alleles
 Phenotype is the appearance of organism or a cell/characteristic/feature/trait
 Genotype is important in determining the phenotype
 Phenotypes could result because of the interaction between environment and genes
 Phenotype is affected by the environment such as light, water and nutrients
 Phenotype is affected by genes:
 One single gene with two alternative alleles
 A single gene with multiple alleles; polygenic inheritance
 Polygenic inheritance can give rise to phenotypes that
show continuous variation
 Genetically identical plants (clones) grow very differently when exposed to varying amounts of light, water and
soil nutrients. This shows how an organism's environment has an impact on its appearance
 The ability of animals to grow as much as their genes allow also depends on environmental factors such as the
amount of food available

This is more difficult to investigate the impact of environment on the phenotype with animals because of the
difficulty of producing large numbers of cloned, genetically identical organisms, and the ethical aspects of
experimentation
 The impact of environment is seen in Siamese cats and certain rabbit breeds, that have dark 'points' on the
ears, the muzzle and the paws
E. coli AND THE LAC OPERON

 E. coli is a gut bacterium

 Lactose is a disaccharide found in milk that is broken down into galactose and glucose by the enzyme β-
galactosidase
 If there is no lactose present in the environment of the E. coli bacteria, then very few β-galactosidase enzyme
molecules are found in each bacterial cell
 If lactose becomes available (in your gut when you eat ice cream or drink a milkshake) each bacterial cell will
soon contain thousands of molecules of β-galactosidase and two other related enzymes
 The presence of lactose induces the bacterial cells to make the β-galactosidase enzymes
 This effect takes place at the level of the genes. They found a cluster of genes which function together to make
the enzymes for breaking down lactose, and they called the cluster the lac operon
 When lactose is present:

 It binds to the repressor substance, making it change shape. This new complex can't bind to the DNA
regulatory gene
 RNA polymerase has free access to the gene
 Transcription takes followed by translation at the ribosomes to produce the enzymes
 The bacterial cell can use lactose as a food source
 So changes in the environment directly cause the change in the phenotype from not producing β-
galactosidase to producing active enzyme
 When lactose is absent:

 Regulator gene produces a repressor protein that binds to the operator gene site
 No transcription takes place so no gene coding for lactose digesting enzyme
 RNA polymerase can’t bind to the gene
 No mRNA
 No protein or enzyme produced
STUDYING VARIATION IN HUMANS

 In mammals such as humans, the environment in the uterus affects

the development of the fetus before birth
 If the mother is malnourished, or the placenta is not very effective,
the fetus may be deprived of vital nutrients and not achieve its
full potential for growth
 If a mother smokes, her fetus will be deprived of oxygen and
this can affect the growth of both the body and the brain
 Some drugs and certain illnesses in a mother can all have serious
consequences for the phenotype of the fetus
TWIN STUDIES

 Identical twins are human clones - they have the same

genetic material
Non-identical twins are just like normal brothers and
sisters (siblings), with closely related but not identical
DNA but, because they are the same age, they are more
likely to have a similar environment than ordinary siblings
 Ordinary siblings are useful as a control group
 If they show a greater difference, it suggests that the
environment has a stronger influence on that
characteristic
 Identical twins can provide evidence for the relative effect of the factors that affect a phenotype
 Identical twins develop from the same egg (same genotype), any differences should be due to environmental
effect
 In some studies identical twins are separated at birth to be adopted by different families (compared them with
non separated identical twins, non identical twins and ordinary siblings)
 If the twins that had been separated show strong similarities in traits (height, weight) this suggests that the
effect of genotype on the characteristic is very strong
 If the twins that are not separated are quit similar for a particular trait, but the separated twin show a great
difference, this suggests that the environment has a stronger influence on that characteristic
 If it’s affected by genetics only, then if one twin has the condition the other will have 100% probability to have
the condition
 If the probability of the condition is less, then there is an effect of the environment on the development of the
condition
DISCONTINUOUS AND CONTINUOUS VARIATION

Variation can be classified into two types:

 Discontinuous variation
 No intermediate phenotypes between two extreme phenotypes
 Determined by one or few genes

 Continuous variation
 Many intermediate phenotypes between two extreme phenotypes
 Determined by multiple genes; polygenic
 Affected by the environment
STUDYING CONTINUOUS VARIATION
 Polygenic feature: different genes affect different factors related to size, such as whether the person is male or
female, the length of the bones in the legs or the size of the vertebrae
 Height in humans has a very strong genetic component
 The height of a human demonstrate how environmental factors interact with genotype
 The height of the person depends on growth of bones and muscles (genetic)
 If the individual is healthy and obtains a balanced diet which contains the right amounts of proteins and
calcium through the growing years its more likely to fulfill his potential genetic height
 If the person is suffering from malnutrition its unlikely to reach
the potential height (height in this case is affected by the environment; diet)
 Because there are variety of factors affecting height
(it shows continuous variation)
 When studying continuous variation in a population, you need m take large samples because chance can affect
the results
 You need to collect your sample randomly from as much of the organism's habitat as possible
 If you collect from only one area, you might not get a result that is accurate for the whole species because a
factor such as climate or diet may be different in that area
 Data like these can be displayed using a graph or histogram to show the frequency distribution of the
characteristic clearly