“SNPs & Factors that

Influence Mendel
Genetics”
Dr. Tamar Barbakadze

Students: Atef Yousef, Masa Al Dalati, & Ahmad Eissa

Group 7

Ilia State University

 Goals
0 0
1
Define SNPs,
providing
examples
2
List the factors
that influence
Mendel Genetics
What are SNPs?
SNPs
(single-nucleotide polymorphisms)
are variations that form DNA,
which is the site where two or
more choices of a nucleotide are
common in the population.
1. They serve as landmarks for
genetic mapping that makes them
responsible for the physical
 Scientists are currently studying how SNPs in differences between individuals.
the human genome correlate with disease,
2. SNPs can also be used to track
drug response, and other phenotypes.
the inheritance of disease genes
within families.

How are SNPs useful? Masa Al Dalati

 Examples of SNPs
Cystic fibrosis (CF) - Schizophrenia - a mental Bipolar disorder - characterized by
caused by mutations in illness that causes periods of high energy and mood
sequence encoding for hallucinations. that switch with periods of low
Glycoprotein 2, Isoform 1 SNP rs1344706 was identified energy and low mood. The
(G2I), an enzyme that helps as a risk factor to the researchers identified mutations in
maintains fluid balance pathogenesis of schizophrenia a gene called ANT1 among
across the mucous in European populations. patients with bipolar disorder.
membranes.

Masa Al Dalati
What are Mendelian genetics?
- Gregor Mendel, a well-known biologist, explained his results by
describing laws of inheritance that introduced the idea of dominant
and recessive genes.

Mendel Principles
1. Law of segregation
2. Law of independent assortment
3. Law of dominance

 Several factors may influence Mendelian genetics

Atef Yousef
 1) Genetic interactions
Definition
Gene interactions occur when
two or more genes influence one
other's expression in multiple
ways during the development of
a single character in an organism.

 Gene interaction is beneficial since a locus may have more than

two alleles within a population

Atef Yousef
 Types of genetic interactions

1. Synthesis

2. Epistasis

3. Suppression

Atef Yousef
Synthetic genetic interactions
• They show cellular processes that protect
cells from genetic changes.

• They aid researchers to anticipate

functional similarity of gene pairs.

Atef Yousef
Epistasis genetic interactions
- The presence or absence of mutations in one or more additional genes affects the
impact of a gene mutation.
- It aids in determining the behavioral impact of gene allele interactions in a variety
of settings.
- Simply, the genetic context in which a mutation occurs determines its consequence.

Examples of different patterns:

1- No interaction (9:3:3:1 ratio)
2- Complementary gene interaction (9:7 ratio)
3- Dominant Epistasis (12:3:1 ratio)

Atef Yousef
Suppression genetic interactions
This occurs when the phenotypic defects
caused by a mutation in a particular gene by a
mutation in a second gene

Genetic suppression is
important since it restores
the phenotype that was
present before the
background mutation

Atef Yousef
 2) Pleiotropy

• Pleiotropism - a single pair of genes controls the

expression of many features, such as A, B, and C.
• When pleiotropic genes are mutated, it might affect either
some or all of the features that are produced.

Atef Yousef
 Pleiotropy:
• EXamples
Phenylketonuria (PKU): a disease caused by a
mutation in a gene that codes for the enzyme
phenylalanine hydroxylase.
• The function of this enzyme is to convert the
phenylalanine amino acid to tyrosine.
• This mutation reduces or ceases this conversion.
• Causes: - mental retardation
- reduced hair & skin pigmentation

Atef Yousef
 3) Lethal Mutations

• They are defective alleles that can cause an organism to die, whether
they are dominant or recessive.

• Fully dominant lethal allele kills an organism in both homozygous and

heterozygous conditions.

• Some can kill organisms in homozygous condition only.

Atef Yousef
 Early onset - when a
lethal alleles result in the
death of an organism at
early stage of life.
(eg. embryogenesis)

Late onset - a lethal Semi-lethal onset -

alleles kill an Types of Lethal a lethal allele kill
organism at their some individuals of
final stage of life Mutations the society but not
all

Conditional onset - a
lethal allele kill an
organism under specific
environmental
conditions only.

Atef Yousef
 Mendel Genetics
4)
 explains how genes express as phenotypes
Penetrance
and determines the frequency with which
phenotypic manifestations occur
- the proportion of individuals who have at
least some expression of a mutant genotype.
 They both explain how a disease shows up.
5)
 reflects the range of expression of the
Expressivity
mutant genotype & measures the intensity
of the phenotype
Types:
1. Uniform - phenotypic expression of a gene is identical
in all individuals carrying the same gene
2. Variable - phenotype is expressed to a different
degree among individuals with the same genotype
(Eg. Waardenburg syndrome)
Atef Yousef
 6) Genetic imprinting
• It’s a form of gene regulation that causes a Disease
copy of a gene to be expressed from one Angelman syndrome - a genetic disorder
of the 2 parents. that causes delayed development, problems
with speech and balance, intellectual
• They are expressed from either the disability, and sometimes seizures.
maternally inherited chromosomes or the
paternally inherited chromosomes
• This occurs before fertilization, in the egg
and sperm cells.
• It’s also a reversible form of gene
inactivation that is not considered a
mutation.

Atef Yousef
 7) Sex-Determined Features Due To
Gender & Gender-Defined Signs
• The Y chromosome differs from the X
chromosome since it includes considerably
fewer genes.

• Except for minor sections on telomeres for

X and Y pseudo-autosomal areas (Y chromosome
Chromosome regions that share similarities with X
chromosomal regions), the human Y
s chromosome cannot recombine with the X
chromosome.

• The NRY refers to the bulk that does not

recombine (non-recombining region)

• During meiosis, NRY and pseudo-

autosomal regions synapse and
recombine.
Ahmed Isam
 8) Mitochondrial Inheritance
- Mitochondrion is a double membrane-bound
organelle that generates most of the cell's supply
of ATP.
- During fertilization, the sperm's mitochondria
is destroyed and the egg's mitochondria passes to
the next generation.
For example, if a mother has an
affected mitochondria and the father is
unaffected, the affected mitochondria
is passed onto the children because the
sperm's mitochondria is destroyed
upon fertilization.

• The degree of how affected the children can be depends

on the amount of affected mitochondria passed.

Atef Yousef
9) Sex Determination & Sex Chromosomes
● The sex of a human can be determined by
the X and Y chromosomes in the nucleus.

● Both males and females have 23 sets of

chromosomes, 22 of them being identical.

● The last set of chromosomes is where it

differs as with females, they have a
homogametic XX chromosomes and
males have heterogametic XY
chromosomes.

Ahmed Isam
 Klinefelter Syndrome

This is a chromosomal condition in boys and men that

can affect their growth and development, physically and
intellectually.

This syndrome is characterized by:

1. Having male genitalia
2.Having more than one X chromosome (XXY karyotype)

Ahmed Isam
 Symptoms
• Most commonly, affected individuals are
infertile.

• Affected individuals are also taller than

Klinefelter average.

• The signs and symptoms can still vary

Syndrome between men and boys though.

• Boys and men with Klinefelter syndrome

typically have small testes that produce a
reduced amount of testosterone

Ahmed Isam
Turner Syndrome
This is a female-only genetic disorder that
affects about 1 in 2,000 baby girls.

This chromosome variation happens

randomly when the baby is conceived in the
womb. It isn't linked to the mother's age.

People with Turner syndrome usually have a

single X chromosome, no Y chromosome (45
chromosomes)

Ahmed Isam
Symptoms of Turner Syndrome
• They are usually shorter than average.

• They have underdeveloped ovaries.

• A lack of monthly periods and also, infertility.

 10) Dosage compensation
 It refers to the equalization of most X-linked gene products between males,
which have one X & a single dose of X-linked genes, and females, which have
two X’s and double doses of such genes..

What regulates it? Mechanisms

The MSL complex, which consists of a
core of five protein subunits as well as
one of two non-coding RNA.
1. Random inactivation of one female X chromosome (X-
inactivation)
2. a two-fold increase in the transcription of a single male X
chromosome (Drosophila)
3. decreased transcription by half in both of the X chromosomes of a
hermaphroditic organism (C. elegans)

Masa Al Dalati
11) Inactivation of X
Chromosomes
1. How is it defined as?
Also known as Lyonization by
which one of the copies of the
X chromosome is inactivated
in therian female mammals.

2. How is the inactive X chromosome

silenced?
It’s packaged into a transcriptionally inactive structure called heterochromatin.

Masa Al Dalati
 12) Sex-chromosome dosage compensation
 Process of balancing gene expression amongst members of distinct biological sexes. Evolutionary
branches have developed a variety of mechanisms for balancing gene expression between the
sexes.

Replicating the actual gene is

impossible; thus, organisms instead
equalize the expression from each gene.

Control of sex determination

• In Drosophila, in males, dosage compensation of the X
chromosome in the soma is achieved by five proteins and two
non-coding RNAs, which assemble into the male-specific lethal
(MSL) complex to upregulate X-linked genes twofold. Masa Al Dalati
 Thank you for listening!

Do you have any questions?

 References used:
● “Mendel and the Laws of Inheritance” Lecture

● “Mendel & the Laws of Inheritance” PowerPoint

● Essential Cell Biology 3rd Edition (by Alberts et Al. 2011): Chapter 19 Sex & Genetics
pages 664-674, 678-682 (by Alberts et Al. 2011)