Lecture 7

Functional Units of the

Nervous System
Genes, Cells, and Behavior
 Genes, Cells, and Behavior
Nucleus of each human somatic cell contains 23 pairs of
chromosomes, or 46 in all
One member of each pair of chromosomes comes from the
mother, and the other member comes from the father.
The chromosome pairs are numbered from 1 to 23
 Chromosomes and Genes
Human somatic cells have 23 pairs of chromosomes

Chromosome pairs 1 through 22 are called autosomes

Autosomes contain the genes that contribute most to our physical

appearance and behavioral functions

The 23rd pair comprises the sex chromosomes, which contribute

to our physical and behavioral sexual characteristics
 Chromosomes and Genes
Allele
A cell contains two copies of every gene, one inherited from your
mother, the other from your father; matching copies are alleles

Homozygous
Having two identical alleles for a trait

Heterozygous
Having two different alleles for the same trait
 Chromosomes and Genes
Genotype:
the genetic makeup of a cell, organism, or individual (i.e. the specific
allele makeup of the individual) usually with reference to a specific
characteristic or trait under consideration.

Phenotype:
composite of an organisms observable characteristics or traits
Includes things like morphology, development, biochemical or physiological properties,
behavior, and products of behavior (such as a beavers dam).
phenotypes result from the expression of an organism's genes as well as
the influence of environmental factors and the interactions between the
two.

Wildtype:
Refers to a normal (most common in a population) phenotype or
genotype

Mutation:
Alteration of an allele that yields a different version of that allele
 Dominant and Recessive Alleles
Dominant Allele
The member of the gene pair that is routinely expressed

Recessive Allele
The member of the gene pair that is routinely unexpressed
 Dominant and Recessive Alleles
Complete Dominance
Only the dominant alleles trait is expressed in the phenotype

Incomplete Dominance
The phenotypic expression of the dominant alleles trait is only
partial

Codominance
The traits of both alleles of a gene pair are expressed completely
in the phenotype
 Genetic Mutations
Genetic Mutations
Can have positive effects (gain of
function), neutral effects, or negative
effects (loss of function)

Effects may be specific or wide spread

Most mutations have negative effects

Example: Sickle Cell Anemia

Sickle shape offer some protection against
malaria
Sickle shape significantly reduces oxygen-
carrying capacity
 Genetic Disorders
Tay-Sachs Disease

Inherited birth defect caused by

a mutation in a gene that
encode an enzyme necessary
for breaking down certain fatty
substances

Appears 46 months after birth

and results in retardation,
physical changes, and death
by about age 5

Caused by recessive allele

 Genetic Disorders
Huntingtons Chorea
Autosomal dominant disorder that results in motor and cognitive
disturbances, ultimately results in death
Caused by an increased number of CAG (cytosine-adenine-
guanine) repeats on human chromosome 4
What is Huntington's Disease?
 Genetic Disorders
Chromosomal Abnormalities
aberrations in part of a chromosome (or
the entire chromosome) rather than a
single defective allele

Example: Down Syndrome

Chromosomal abnormality resulting in
mental retardation and other abnormalities

usually caused by an extra copy of

chromosome 21 (trisomy)

One parent (usually mom) passes on two

copies of chromosome 21 to the child,
rather than the normal single chromosome

Children with Down syndrome can learn to

compensate greatly for the brain changes
that cause their mental handicaps
 Genetic Engineering
Adding or removing genes from a genome, or
modification of a gene

Approaches
Selective breeding
Cloning
Transgenic Techniques
Knockouts
 Selective Breeding
Process by which humans breed other animals or plants
for specific traits

Effective way to alter gene expression

Maintaining spontaneous mutations is one objective of

selective breeding

Selective breeding of dogs has produced breeds that

can run fast, haul heavy loads, retrieve prey, dig for
burrowing animals, etc.

Selective breeding of mice has lead to mouse

populations with heavy alcohol consumption and/or
sensitivity to alcohol.
 Cloning
Producing an offspring that
is genetically identical to
another animal

Clones can be used to

preserve valuable traits, to
study the relative influences
of heredity and environment,
or to produce new tissue or
organs for transplant to the
donor
 Transgenic Techniques
Enable scientists to introduce genes into an embryo or
remove genes from it

Chimeric animals have cells with genes from both parent species
and behaviors that are a product of those gene combinations

Knock-in technology is used to add a number of genes from one

species to the genome of another species
The genes are expressed in subsequent generations

Knockout technology is used to inactivate a gene so that a line of

rodents fails to express it
 Phenotypic Plasticity and Epigenetics
The extent of our phenotypic variation, given the same
genotype, can be dramatic

Every individual has a capacity to develop into more than

one phenotype

Phenotypic plasticity: the capacity of the genome to express a

large number of phenotypes

Epigenetics: the influence of environment in selecting one or

another phenotype
 Epigenetics
The environment can allow a gene to be expressed or
prevent its expression
Epigenetics is viewed as a second code
Describes how a single genetic code produces each different
somatic cell type

Explains how a single genome can code for many different

phenotypes

Describes how cells go astray in their function to produce

diseases ranging from cancer to brain dysfunction

Epigenetic mechanisms influence protein production

1. By blocking a gene so that it cannot be transcribed
2. Unlocking a gene so that it can be transcribed
 Epigenetics
An environmental influence can induce or remove one or
more blocks, allowing the environment to regulate gene
expression
1. Histone modification: DNA may unwrap or be stopped from
unwrapping from the histone
2. DNA modification: Transcription of DNA into mRNA may be
enabled or blocked
3. mRNA modification: mRNA translation may be enabled or
blocked
 Epigenetic
Modification