Genotype, Environment and

their Interaction
 genetic make-up of an individual
organism
 set of instructions for growth and

development
 ‘genotype’ is usually used when
talking about the genetics of a
particular trait (like eye colour)

observable physical or biochemical
characteristics of an individual organism,
 determined by genetic make-up and

environmental influences,
 for example, height, weight and

skin colour.
 phenotype that is affected by more than one
factor is known
 It is a trait affected by two or more factors,
either environmental or genetic.
 A multifactorial trait could also be
polygenic,
Birth defects such as neural tube defects and cleft palate.
Cancers of the breast, ovaries, bowel, prostate, and skin.
High blood pressure and high cholesterol.
Diabetes.
Alzheimer disease.
Schizophrenia.
Bipolar disorder.
Arthritis.
NTDs occur when the neural tube
does not close properly. The neural
tube forms the early brain and
spine. These types of birth defects
develop very early during
pregnancy, often before a woman
knows she is pregnant. The two
most common NTDs are spina
bifida (a spinal cord defect)
and anencephaly (a brain
defect).
 When two or more genes influence the trait.
 The environment can play a role in a
multifactorial trait just like multiple genes
can play a role in a multifactorial trait.

Height is a polygenic trait, controlled by at least

three genes with six alleles.

Height in humans very strongly genetically

controlled
 The environment can mean things like
climate, location, food we eat, the drugs we
take, or toxins that are around us.
 is really any non-genetic contribution.

 The Gene-Environment Interaction describes

how the genotype and the environmental
conditions surrounding an individual can
influence a phenotype.
 when two different genotypes respond to
environmental variation in different
ways
 some possess a low risk for developing a
disease through an environmental
insult, while others are much more
vulnerable
Gene-Environment Interaction
 Used to understand gene functions

 Development of some diseases

 Virtually all-human diseases result from
 the interaction of genetic susceptibility
factors (an increased likelihood of
developing a particular disease based on a
person's genetic makeup) and
 modifiable environmental factors,
 broadly defined to include infectious,
chemical, physical, nutritional,
 and behavioural factors.
 some rare diseases, such as Huntington or
Tay Sachs disease, may be the result of a
deficiency of a single gene product, but these
diseases represent a very small proportion of
all human disease
 Common diseases, such as diabetes or
cancer, are results of the complex interplay
of genetic and environmental factors.

Variations in genetic makeup are
associated with almost all disease.

Even so-called single-gene disorders
actually develop from the interaction of both
genetic and environmental factors.
 A variant leading to deficient metabolism of
the phenylalanine
 in the presence of normal protein intake,
phenylalanine accumulates and is neurotoxic.
both the genetic (phenylalanine hydoxylase
deficiency)
 and the environmental exposure (dietary
phenylalanine) are present.
 Subjects with XP mutations are susceptible to
skin cancer on exposure to ultraviolet
 In theory, if individuals with XP mutations
completely avoid ultraviolet light their risk of
skin cancer becomes close to the
background risk
 Emphysema is a lung condition that causes
shortness of breath. In people with emphysema, the
air sacs in the lungs (alveoli) are damaged. Over time,
the inner walls of the air sacs weaken and rupture —
creating larger air spaces instead of many small ones.
 Mutation in the α - 1
antitrysin gene
 Mutant non-smokers
and wild type smokers
have an equal risk
 Mutant smokers have
highest risk.
 Genetic variants do not cause disease rather
influence a person’s susceptibility to
environmental factors.
 We do not inherit a disease as it is.
 we inherit set of susceptibility factors
to environmental factors
 and hence inherit a higher risk of certain
diseases.
 why individuals are differently affected by the
same environmental factors.

For example, some individuals with
acceptable cholesterol levels suffer an early
myocardial infarction.

 Others in spite of smoking, poor diet,

and obesity do not
 Genetic variations account for this difference
in response to the same environmental
factors.
 We all carry genetic variants that increase our
susceptibility to some diseases.
 By identifying and characterizing gene-
environment interactions, we have more
opportunities to effectively target
intervention strategies.
 The degree to which your phenotype is
determined by your genotype
 If environmental factors have a strong
influence, the phenotypic plasticity is high.
 If genotype can be used to reliably predict
phenotype, the phenotypic plasticity is low.
 BEHAVIOR CAUSED BY CHEMISTRY OF THE BRAIN

“The way in which one acts or conducts oneself.. “

Animation: Communication among neurons

 2 Neurotransmitters
Brain chemicals that can change our moods and
actions

Neurotransmission: Neurotransmitters released

when certain neurons in the brain fire

Impulse travels to synapse, neurotransmitter is

released

Increases or decreases in the release of the

neurotransmitter, may change behavior
Synapse
Drugs Mimic Neurotransmitters
5 Single-Gene Defect and Aggressive Behavior
Large family with aggressive and violent behavior

Only in men, many committed violent offenses

Mapped to short arm of X chromosome

Gene encodes monoamine oxidase type A (MAOA) that

breaks down neurotransmitters

Mutated form of gene, MAOA deficiency

monoamine oxidase A (MAOA); a gene
encoding an enzyme responsible for
catabolising amine neurotransmitters such as
dopamine, serotonin and noradrenaline.
Brunner described an extended
Aggression
family in which 5 males had
impulsive aggression including:
–Exhibitionism
•
–Arson
–Rape
Pedigree of Family with Violent Behavior
Data from a 2007 study suggests that MAOA-L
individuals are hypersensitive, so are affected more
by negative experiences (thus react more
aggressively in defence) as opposed to being
hyposensitive, and lacking emotion for harming
others.
Male members of a large Dutch kindred
displaying abnormal violent behaviour were found
to have low MAO-A activity linked to a deleterious
point mutation in the 8th exon of the gene.
Knock out Mice for Serotonin Receptors
Failure to rapidly break down neurotransmitters such as
serotonin

Does not allow the normal transmission, disrupts

normal functions in the nervous system

Can cause abnormal behavior

Researchers deactivate (“knock out”) serotonin

receptor gene in mouse
Knockout mouse aggressive to unfamiliar mouse
Knockout Mice