Complex pattern of

inheritance(gene interaction)
 Pleiotropism
• Pleiotropism is a central term in
developmental genetics.
• In pleiotropism, a single gene affects a number
of phenotypic traits in the same organism
• These pleiotropic effects often seem to be
unrelated to each other. The usual underlying
mechanism is that the same gene is activated
in several different tissues, producing
apparently different effects. It follows that the
phenomenon must be extremely common,
since most genes will have effects in more
than one tissue.
 Examples
• In human beings, Marfan’s syndrome is
characterized by long limbs, selender body,
hypermobility of joints, lens dislocation, and
susceptibility to cardiac diseases are caused by
single pleiotropic gene
• Another example of pleiotropy is phenylketonuria, an
inherited disorder that affects the level
of phenylalanine in the body. Phenylalanine is an amino
acid that can be obtained from food. Phenylketonuria
causes this amino acid to increase in amount in the body,
which can be very dangerous. The human disease is
caused by a defect in a single gene on chromosome 12
that affects multiple systems, such as the nervous and
integumentary system.
•  Other examples of pleiotropy are albinism, sickle cell
anemia, and certain forms of autism and schizophrenia.
 Epistasis
• The term epistasis describes a certain
relationship between genes, where an allele of
one gene hides or masks the visible output, or
phenotype, of another gene.
• Epistasis is entirely different from dominant
and recessive, which are terms that apply to
different alleles of the same gene
• Gene responsible for albinism in humans is
epistatic gene
 Phenocopies
• A phenocopy is a variation
in phenotype (generally referring to a
single trait) which is caused by environmental
conditions (often, but not necessarily, during
the organism's development), such that the
organism's phenotype matches a phenotype
which is determined by genetic factors.
• It is not a type of mutation, as it is non-
hereditary.
• A phenocopy is an individual whose 
phenotype (generally referring to a specific
trait) is environmentally induced to mimic the
phenotype of an organism whose phenotype
was genetically determined
 Example
• The Vanessa genus of butterflies can change phenotype based
on the local temperature. If introduced to Lapland they mimic
butterflies localised to this area; and if localised to Syria they
mimic butterflies of this area.
• Phenocopy can also be observed in Himalayan rabbits. When
raised in moderate temperatures, Himalayan rabbits are white
in colour with black tail, nose, and ears, making them
phenotypically distinguishable from genetically black rabbits.
However, when raised in cold temperatures, Himalayan rabbits
show black colouration of their coats, resembling the
genetically black rabbits. Hence this Himalayan rabbit is a
phenocopy of the genetically black rabbit
• Diabetics dependent on insulin are
phenocopies of normal individuals in the
sense that the drug environment prevents the
effect of the disease.
Nature versus Nurture
 Nature
• People behave the way
they do because they
are animals who act in
accordance with their
animal instincts and are
determined by their
biology.
 Nurture
• People behave the way they do because they
are determined by the things other people
teach them, the things they observe around
them, and because of the different situations
they are put in.
• The argument of genetic makeup versus environmental
influences, however, has researchers working to determine
what really shapes us. Some say genotypes control how people
think, feel, and behave. Others believe it is the environment
alone that is responsible for molding humans into who they
are. There is much unknown in this field, but the perusal and
review of twin, adoption, and family studies is a significant
stepping stone in better understanding this topic. Even today,
the sole sculptor of human personality, behavior, and
psychopathology remains unknown; modern research
indicates that a combination of biology and environment
constructs us all.
 Twin studies
• Twins provide a valuable source of
information for health and psychological
research, as their unique relationship allows
researchers to pull apart and examine genetic
and environmental influences.  Twin study
findings have been influential in detecting and
treating various diseases and psychological
disorders. 
 How are they able to do this? 
• Twin studies allow researchers to examine the
overall role of genes in the development of a trait
or disorder.  Comparisons between monozygotic
(MZ or identical) twins and dizygotic (DZ or
fraternal) twins are conducted to evaluate the
degree of genetic and environmental influence on a
specific trait.  MZ twins are the same sex and share
100% of their genes.  DZ twins can be the same- or
opposite-sex and share, on average, 50% of their
genes.
• If MZ twins show more similarity on a given
trait compared to DZ twins, this provides
evidence that genes significantly influence
that trait.  However, if MZ and DZ twins share
a trait to an equal extent, it is likely that the
environment influences the trait more than
genetic factors.  
• For example, Figure 1 presents MZ and DZ
twin correlations for several physical and
psychological characteristics.  As shown in the
figure, MZ twins, on average, are twice as
similar as DZ twins for these characteristics,
suggesting that genes influence the
development of these traits.
• In addition to traditional twin studies, children-of-twins studies
are a particularly useful way to examine genetic and
environmental influences on traits and disorders and their
transmission across generations.  
• For example, since MZ (identical) twins share 100% of their
genes, the children of MZ twins are as genetically related to
their twin parent’s twin sister or twin brother as they are to their
parent.  Given this, their cousins through that aunt or uncle are
like genetic half-siblings.  As these cousins typically live in
different households, this relationship allows for a unique
perspective into possible interactions between genetic
influences and environmental factors. 
• Results from twin studies may suggest that a particular trait or
disorder has a genetic component, but this does not provide
information about the location of this gene or genes. 
Nevertheless, twin designs and methods are extremely useful
for understanding the extent to which psychological and
medical disorders, as well as behaviors and traits, are
influenced by genetic factors.  This information can then be
used to develop better ways to prevent and treat disorders and
maladaptive behaviors.  Indeed, some of the most effective
treatments for medical disorders (e.g., early onset breast
cancer) have been developed partly as a result of twin study
research.
 Adoption studies
• A very significant portion of studying heredity and
environmental effects on human traits and
psychopathology is devoted to adoption studies. Adoption
studies are important because they include two sets of
factors that may account for differences in behavior,
personality, and psychopathology: biological parents and
environmental parents. Of course, any links between the
biological parents and the child that is given away is
usually explained by genetics, and any links between the
adoptive, or environmental parents, to the adopted child
is usually attributed to environment (Plomin et al., 1997).
 Family Studies

• Family studies are not as oft cited as twin and adoption studies, but
nonetheless they are still a valid and important piece in the puzzle of
heredity versus the environment. Family studies are mostly used to
identify the degree of risk of relatives developing mental disorders
that other family members suffer from. Case-control family studies
are employed, including estimates of relative risk and population
relative risk of a mental illness. Relative risk compares how large the
likelihood is that one relative of a person with a mental disorder will
also develop the disorder than the relative of a person with no
mental disorder. Population relative risk calculates approximately
how much risk there is that the relatives of a person suffering from
mental illness will also be affected as opposed to relatives of a person
who does not suffer from any mental illness (Jang, 2005).