Genetics: A Review

Chapter 5

Cyrelle M. Besana
Instructor
Dept. of Biological Sciences, CSM,USM
 Genetics: A Code for All Life

Principle of hereditary transmission

• Central tenet of all life on Earth
• All organisms inherit a structural and
functional organization from their progenitors
(parents/ancestors)

James Watson and Francis Crick (1953)

• Stated the nature of coded instructions in
genes formed by DNA
• Leads to evolution by genetic variations and
mutations in populations

Rosalind Franklin, an English chemist also played an

important role in the understanding of the DNA as her work
in X-ray crystallography which led to the discovery of the
double helix structure of the DNA
 Mendel’s Investigation

Gregor Johann Mendel (1822–1884)

– First person to formulate the principles of heredity

– Augustinian monk who lived in Brunn, Moravia of modern Czech

Republic

– Bred peas in monastery garden from 1856 to 1864

– Discoveries were published in 1866, coming after Darwin’s Origin of

Species

– However, Mendel’s ideas remained unappreciated and forgotten until

1900
 Garden Peas

• Mendel chose to work with pure strains of garden peas

– Example: dwarf and tall varieties

• The plants were self-fertilizing but subject to experimental

cross-fertilization
– He studied single characteristics that displayed sharply
contrasting traits

• Mendel knew nothing of the cellular basis of heredity, since

chromosomes and genes were not yet discovered
 Chromosomal Basis of Inheritance

• Sex cells (gametes) transmit

genetic information from parents
to offspring in sexually reproducing
organisms

• Chromosomes occur in pairs,

homologous chromosomes
– One member of the pair is
donated by the mother, the
other by the father
– Homologs contain similar genes
encoding the same set of
characteristics
• Usually have the same size
and shape
 Meiosis – Reduction Division

• Meiosis is a special type of

reductional division
– Associated with gamete
production
– Genetic material replicates
once, followed by two
successive nuclear divisions
– Cross-over occurs in the first
division
– Produces four daughter cells
• Each with only one
member of each
homologous chromosome
pair or one set of
chromosomes (haploid)
• Each daughter cell is
different genetically
A) Meiosis in a sex cell with two pairs of
chromosomes. (B) Synapsis occurs in prophase I.
 Fertilization
- Gametes combine in
fertilization
- Reestablishes the diploid
chromosome number
- Union of egg and sperm
produces a zygote (single
cell)
- Contains chromosomes of
egg and sperm or two sets of
chromosomes (diploid)
- Each zygote is genetically
unique
Unique Features of Meiosis
Most unique features of meiosis occur in
Meiosis I:
Prophase I
- The two members of each pair of
homologs make side-by-side
contact (synapsis) to form a
bivalent
- Bivalent composed of two pairs of
chromatids (each pair termed a
dyad) or four future chromosomes
and is called a tetrad
- Homologs cross-over and
exchange genetic information
 Meiosis I

Metaphase I
• Homologs line up side by side on the metaphase plate

Anaphase I
• Tetrads are separated into dyads and moved to opposite
poles of cell
• Centromeres do not divide
• At end of Meiosis I each daughter cell contains one
chromosome (made of two chromatids) from each
homologous pair
• Each of these cells (now haploid) enter Meiosis II
• No interphase between Meiosis I and Meiosis II
 Meiosis II

• Meiosis II resembles mitosis

– Dyads are split
– Single-stranded chromosome move toward poles
– Results in four daughter cells, each with one haploid set of
chromosomes
 Sex Determination

• Sex determination in some insects

– Presence or absence of accessory
chromosomes determine whether
offspring are female or male
– XX–XO type
• Sex determination in humans
– 46 chromosomes (23 pairs) in somatic
cells
• Pairs 1–22: Autosomes (do not
determine sex)
• Pair 23: Sex chromosomes
(determine sex)
– Two sex chromosomes, X and Y, are
heteromorphic Normal male (XY) and female (XX)
• Do not contain the same linear chromosomes
sequence of genes
• Males are XY, females are XX
XX–XO and XX–XY sex determination. Only sex chromosomes are
shown.
 Other Types of Sex Determination

• Sex determination in birds, moths, butterflies, and some fishes

– The male has two X (or sometimes called ZZ) chromosomes
and the female an X and a Y (or ZW).

• Sex determination in other invertebrates and vertebrates

– Affected by environmental or behavioral conditions rather
than by sex chromosomes
– Or by genetic loci whose variation is not associated with
visible difference in chromosomal structure
 Mendel’s First Law

• Mendel’s law of segregation

– In the formation of gametes, paired factors that may
specify alternative phenotypes (visible traits) separate so
that each gamete receives only one member of the pair.
• Mendel cross-pollinated pure-line tall plants with pollen from
pure-line dwarf plants
– Monohybrid cross: involves variation at a single locus
(height only)
– Progeny (F1 generation) was all tall plants
– Self-fertilizing the F1 to produce the F2 generation resulted in
3 : 1 ratio of tall and dwarf plants
 Dominant and recessive

• Called the tall (T) factor dominant and the short (t) factor
recessive

• Used capital letter to denote dominant trait and corresponding

lowercase letter to denote the recessive trait
– Pure-line tall plants are T/T (homozygous)
– Pure-line dwarf plants are t/t (homozygous)
– The F1 generation is all T/t (heterozygous)
• Testcross is used to determine the genotype of an individual with a
dominant phenotype
– Homozygous dominant or heterozygous?
– Cross an individual of unknown genotype with a homozygous
recessive individual
• If the unknown is homozygous dominant, all offspring have
the dominant phenotype
• If the unknown is heterozygous, half the offspring have the
dominant phenotype

Incomplete Dominance

• Neither allele is completely dominant over the other – called

incomplete dominance
− The heterozygous phenotype is distinct from those of the parents,
often intermediate between them
 Incomplete Dominance. Cross
between chickens with black and
splashed white feathers. Black and
white are homozygous; Andalusian
blue is heterozygous.
 Mendel’s Second Law

• Mendel’s law of independent assortment

– Genes located on different pairs of homologous
chromosomes assort independently during meiosis

• Pertains to studies of two pairs of hereditary factors at the

same time

• Mendel used pea strains differing by two or more phenotypic

characters controlled by genes located on different
(nonhomologous) chromosomes
Punnett square method for
determining ratios of
genotypes and
phenotypes expected in a
dihybrid cross.
 Multiple Alleles

• Genes may have more than two alleles

– Multiple alleles arise through mutations at the same gene
locus at different times
– Example:
• Humans have more than 500 variants of hemoglobin
beta
• Multiple alleles affect coat color in rabbits
 Gene Interaction

• Pleiotropy → Genes having more than a single effect on

phenotypes
• Epistasis → Allele at one locus can mask or prevent the
expression of an allele at another locus acting on the same
trait
• Polygenic inheritance → Many different genes affect a single
phenotype
– Quantitative inheritance: Characters show continuous
variation between two extremes
Gene Interaction
 Sex- Linked Inheritance

• Inheritance of some
characters depends on
the sex of the parent
when the genes are
located on sex
chromosomes
– Designated as X-
linked or Y-linked
– Most sex-linked traits
are X-linked
• Red–green color
blindness
• Hemophilia
 Linkage and Crossing-Over
• Genes on the same autosomal chromosome are linked and tend to be inherited
together
• However, linkage groups may be broken up during prophase I of meiosis (crossing
over)
– Decreasing distance between the two loci increases probability that alleles
will be inherited together (no crossing over)
– Increasing distance between the two loci decreases probability that alleles
will be inherited together (crossing over)

Crossing over during meiosis

results in gametes that are
genetically different.
 Chromosomal Aberrations

• Chromosomal aberrations are structural and numerical

deviations from the norm that affect many genes at once
– 5 out of every 1000 people are born with serious genetic
defects attributable to chromosomal anomalies
– Changes in chromosome number
• Euploidy, polyploidy, and aneuploidy
– Changes in chromosome structure
• Inversion, translocation, deletion, and duplication
 Euploidy
Euploidy is the addition or deletion of whole sets of chromosomes
• Polyploidy is most common type of euploidy
o Occurrence of three or more sets of chromosomes in an
organism
o More common in plants than animals

Aneuploidy
Aneuploidy is the addition or deletion of a single chromosome
• Usually caused by failure of a pair of homologous chromosomes to
separate during meiosis (non-disjunction)
• Monosomy occurs when an individual has one less chromosome
relative to the diploid parent al number
• Trisomy occurs when an individual has one extra chromosome
relative to the diploid parental number
 Structural Changes

• Changes in chromosome structure affect multiple genes

– Inversion: portion of a chromosome reversed
– Deletion: entire blocks of genes lost
– Translocation: nonhomologous chromosomes exchange
sections
– Duplication: extra section of chromosomes attached
• Rare
• Important for evolution: supply additional genetic
information that may enable new functions