Genes  Traits

Content:

1. Genetic inheritance
2. Gene interactions
3. Polygenic traits
4. Phenotype
The 7 characters of the garden peas

DOMINANT RECESSIVE
Mendel’s Laws
Mendel’s Laws
The limitations of
Mendelian genetics
 1.

Types of inheritance:
1. Mendelian inheritance
Genetic
2. Non-Mendelian inheritance
inheritance
3. Polygenic inheritance
4. Epigenetic inheritance
 2.

Mendelian inheritance:
1. Autosomal inheritance
a. dominant/recessive inheritance
b. incomplete dominant inheritance
c. codominant inheritance

2. Sex-linked inheritance
a. dominant/recessive X chromosome-linked inheritance
c. Y chromosome-linked inheritance
 3.
The limits of Mendelian genetics

- Manifestation of phenotype (penetrance, expressivity)

- The problem of monogenic inheritance
 4.
The manifestation of phenotype
Penetrance : theits effect
frequency, expressed as a percentage, with which a particular gene produces
in a group of organisms
Complete penetrance: phenotype is always manifested in the presence of a certain allele
Incomplete penetrance: phenotype is not always manifested in the presence of a paricular allele

An autosomal dominant disease does not affect every individual

Expressivity: the degree to which a particular gene produces

its effect in an organism
Monogenic traits
 Genetics of monogenic traits 5.

A B AB 0

poligenic
AB0, etc.

Monogenic traits
Xeye color blood groups tongue rolling
-----------------------------------------

Monogenic diseases
(2% of genetic diseases)
albinism phenylketonuria galactosemia sickle cell anemia

Albinism (type 1):mutation of tyrosinase gene (it catalyzes the production of melanin from tyrosine by oxidation)
Phenylketonuria: mutation of hydroxylase gene (role in metabolism of phenylalanine); it causes mental retardation
Galactosemia: galactose-1-phosphate uridil transferase (cleaves galactose) deficiency; it causes liver and brain malfunction
Sickle cell anemia: glutamate  valin substitution at the 6th position of -globin
 6.

White skin
Albinism
- Albinism can be caused by mutation in genes other than tyrosinase gene:
 more gene  1 phenotype
- Mutation in tyrosinase causes other complications :  1 gene  more phenotype
(eye problems, e.g. nystagmus)
-----------------------------------------

ques
t of Euro
pe Pale skin
Con K y)
-60
H. neanderthalensis (30

Mutation in MC1R gene

ns
Sa pie
H. K y)
(130
Common ancestor (700K y)

In different position in Neanderthal than in H. sapiens

But: skin color is determined by multiple genes
 4.
7.

1 gene - 1 complex trait

homosexuality speech intelligence alcoholism depression suicide religious belief

 5.
8.
Mendel’s discoveries
1822-1884

What did he observe? wrinkly smooth green yellow

1. The specific characters of pea retain their identity during cultivation

2. 3:1 split in F2 generation
------------------------------------------------------------------------------------
What had he concluded?:
1. The material of inheritance is packed to discrete packages
2. Each gene can have two variants (alleles) in an individual - diploid √
----------------------------------------------------------
The „1 gene, 1 phenotype” paradigm of Classical and √
Modern Genetics
- one gene encodes a single phenotype – the principle is wrong
- one allele encodes a single phenotype variant – restricted validity X
X
Phenotype: anything that is part of the observable structure, function or behavior of an organism
Paradigm: generally accepted views of a discipline
 9.
Mendel’s radio

What is the problem?: Interpretation of 1 gene, 1 phenotype relationship

The function of a transistor:

1. suppression of howl
2. production of music

Real function: modulation of signal and voltage

 10.

Messages

1. The 1 gene, 1 phenotype approach is reductionist; the effect of a gene can

only be evaluated in the cellular and genetic context

2. There are few monogenic traits and behaviors in nature

3. The term „monogenic disease” is a disorder (not necessarily with a single symptoms)
caused by a mutation in a single gene

Monogenic trait: a particular phenotype determined by a single gene

Reductionist: so much oversimplified idea that it is mistaken
Non-Mendelian genetics
1.Maternal inheritance
2. Mosaicism
 11.
Maternal
(= mitochondrial)
inheritance
 11.
Maternal
(= mitochondrial)
inheritance

Maternal versus paternal

mitochondria
 11.
Maternal
(= mitochondrial)
inheritance

Homoplasmy no disease

Heteroplasmy

mild disease severe disease

 12.
Mosaicism

1. Germline mosaicism: in gonadal cells

- new mutation in germline formation

2. tissue mosaicism: in body cells

- types: (a) post-zygotic mutations
(b) chimeras Fusion of 2 genotypes
(c) mitotic errors
(d) X chromosome inactivation Non-sweating areas