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Evolutionary Theory and Predetermined Behavior
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Charles Darwin
Studied Natural Selection and evolution
What does Natural Selection and evolution consist of
High reproductive capacity
Natural selection (adaptive advantage)
Variability
Natural selection
The process by which inherited traits that provide a selective advantage (increased probability of survival) come to be more prevalent in a population.
FRANCIS GALTON
Studied Eugenetics
Human traits of intelligence or ability, could be improved by controlling reproduction.
What did Galton believe?
that encouraging people with "desirable" traits to have more children, while discouraging those with "undesirable" traits from having children, could improve the human race.
Mendelian Genetics
Gregor Mendel: studied of how traits are inherited from one generation to the next
Three principles of Mendelian Genetics
The principle of Segregation
The principle of Dominance
The principle of Independent Assortment
The principle of Segregation
traits are inherited as discrete units (now known as genes), and each parent contributes one unit to their offspring
The principle of Dominance
some traits are dominant and mask the presence of recessive traits in the offspring.
The principle of Independent Assortment
different traits are inherited independently of each other, meaning the inheritance of one trait does not affect the inheritance of another.
WALTER SUTTON (1902) & THEODOR BOVERI
CHROMOSOMAL THEORY OF INHERITANCE:
Theodor Boveri (early 1900s) showed that chromosomes play a key role in inheritance and that each chromosome carries important genetic information.
Walter Sutton (also early 1900s) worked on the same idea and proposed the chromosome theory of inheritance, which suggests that genes are located on chromosomes and are passed down during reproduction.
MORGAN (1910)
Studied relationship between genes and chromosomes,
Fruit Fly (Drosophila melanogaster)
CHROMOSOMAL THEORY OF INHERITANCE
Fundamental principle in genetics that explains how genes are transmitted from parents to offspring through chromosomes
Development of the CHROMOSOMAL THEORY OF INHERITANCE
Origins: The theory was developed in the early 1900s by scientists Theodor Boveri and Walter Sutton.
They observed that chromosomes behaved in ways that matched Mendel's laws of inheritance.
Key Observations: Boveri and Sutton noted that chromosomes segregate & assort independently during meiosis, the process of cell division that produces gametes (sperm and eggs).
Core principles of CHROMOSOMAL THEORY OF INHERITANCE
Chromosomes Carry Genes: Genes are located on chromosomes, which are the carriers of genetic information.
Segregation: During meiosis, chromosomes (and thus genes) segregate so that each gamete receives only one chromosome from each pair.
Independent Assortment: The way chromosomes are distributed to gametes is random, leading to genetic variation.
Supporting evidence to Chromosomal Theory of Inheritance.
Fruit Fly Experiments
Genetic Linkage and Recombination
Genetic Linkage and Recombination
Morgan also discovered that genes located close together on the same chromosome tend to be inherited together, a phenomenon known as linkage
Fruit Fly Experiments
Thomas Hunt Morgan's work with fruit flies (Drosophila melanogaster) provided strong evidence for the Chromosomal Theory of Inheritance.
He demonstrated that specific traits were linked to specific chromosomes.
Non-Mendelian Inheritance
Multiple Alleles: More than one allele for a trait.
Incomplete Dominance: A dominant gene is not fully expressed (e.g., Intermediate Inheritance).
Intermediate Inheritance: Intermediate phenotype.
Codominance: There is codominance between two alleles
Sex-linked inheritance: XX or XY.
ABO System and Rh System Inheritance: A and B alleles (codominant) and 0 (recessive)
Multiple Alleles: More than one allele for a trait.
Definition: More than two alleles exist for a particular gene within a population.
Example: The ABO blood group system, where the gene for blood type has three alleles: A, B, and O.
Incomplete Dominance: A dominant gene is not fully expressed (e.g., Intermediate Inheritance).
Definition: A situation where the dominant allele does not completely mask the effects of the recessive allele in heterozygotes.
Example: Flower color in snapdragons, where crossing red and white flowers results in pink offspring
Intermediate Inheritance: Intermediate phenotype.
Definition: The phenotype of heterozygotes is intermediate between those of the two homozygotes.
Example: Similar to incomplete dominance, where the resulting phenotype is a blend of the two parental traits
Codominance: There is codominance between two alleles
Definition: Both alleles in a heterozygote are fully expressed, resulting in a phenotype that shows both traits simultaneously.
Example: The ABO blood group system, where individuals with genotype AB express both A and B antigens
Sex-linked inheritance: XX or XY.
Definition: Traits that are associated with genes located on the sex chromosomes (X and Y).
Example: Hemophilia and color blindness, which are often linked to the X chromosome. Various traits linked to the X and Y chromosomes, which are usually transmitted by recessive inheritance. More common in males.
ABO System and Rh System Inheritance: A and B alleles (codominant) and 0 (recessive)
ABO System: Involves three alleles (A, B, and O). A and B are co-dominant, while O is recessive.
Rh System: Involves the presence (+) or absence (-) of the Rh antigen. The Rh+ allele is dominant over Rh-
Alteration in the number of chromosomes
Trisomy (3 chromosomes), the lack of one chromosome can only be in one sex chromosome (Turner syndrome, XO).
Structural alterations of chromosomes
deletion
inversion
translocation
deletion
a chromosome fragment is missing
inversion
a piece of chromosome is joined to another in an inverted position
translocation
it is exchanged for another segment of a nearby chromosome
Autosomal inheritance (not sex-linked)
inherited equally in males and females.
Lethal genes
cause the death of the individual before sexual maturity
either Gametic
or Zygotic
Gametic
they act in the gametes producing their death
Zygotic
they act from the formation of the zygote until it reaches sexual maturity
According to lethal genes dominance
dominant
recessive
According to lethal genes action
complete lethal
semi-lethal
sublethal
complete lethal of lethal genes action
causing death in 90% of cases
semi-lethal of lethal genes action
causing death 50-90% of cases
sublethal of lethal genes action
causing death 10%
Chromosome nr 23
linked to sex
chromosomes 1-22
Autosomal inheritance
Autosomal dominant transmission
Single Allele
Equal Gender Distribution
Generational Presence/Vertical inheritance
Single Allele
Only one copy of the dominant allele is needed for the trait to be expressed.
Equal Gender Distribution
Both males and females are equally likely to inherit and express the trait since autosomes are not sex-linked.
Generational Presence/Vertical inheritance
Traits typically appear in every generation, as affected individuals have a 50% chance of passing the dominant allele to their offspring.
Autosomal recessive transmission
Two Alleles
Carrier Status
Equal Gender Distribution
Generational Patterns
Two Alleles
An individual must inherit two copies of the recessive allele (one from each parent) to express the trait
Carrier Status
Individuals with only one copy of the recessive allele are carriers and do not exhibit the trait but can pass the allele to their offspring.
Equal Gender Distribution
Both males and females are equally likely to inherit and express the trait since autosomes are not sex-linked.
Generational Patterns
Traits may skip generations if carriers do not express the trait.
Increased risk in consanguineous unions
Sexual chromosomes
Human 23 pairs (46 chromosomes)
22 pairs of chromosomes
1 pair of Sexual Chromosomes
Diploid
refers to a cell or organism that has two complete sets of chromosomes, one set inherited from each parent.
In humans, for example, most cells are diploid and have 46 chromosomes (23 pairs)
haploid
Cells (like sperm and egg cells), which have only one set of chromosomes.
opposite of diploid
Sex-linked inheritance diseases
DALTONISM
HEMOPHILIA
most common in men
why does sex-linked inheritance occur?
If a gene for a sex-linked trait is defective or recessive and located on the X chromosome, men are more likely to express the trait because they only have one X chromosome.
If that single X carries the defective gene, there is no second X to "mask" the effect.
BLOOD GROUPING
There are 4 essential antigens that define the 4 blood groups known by the acronyms:
0, A, B and AB
Rh System (Rhesus Factor)
Protein responsible for the incompatibility of some blood groups.
BLOOD GROUPING AND RH SYSTEM
We all have these two components: ABO + RH (They are two different Protein Families).
BLOOD GROUPS MATCH WITH THE
PRESENCE OF CERTAIN PROTEINS.
THE BLOOD GROUPS CAN BE:
A
B
O
AB
Neurotransmitters
complex behavioural effects and variations based on different factors
(drugs, psychotropic drugs, enzymatic changes, genetic variations)
Serotonin
Dopamine
Serotonin
5HT1B receptors associated with reduced aggression.
Mice lacking these receptors showed higher levels of aggressiveness, as well as humans with lower activation due to low levels of 5-HT.
5HT1A receptor inactivity associated with anxiety in adulthood (critical period).
5HT1A
receptor inactivity associated with anxiety in adulthood (critical period).
5HT1B
receptors associated with reduced aggression.
Dopamine
Gene-neurotransmitter relationship for Parkinson's disease.
Alterations in D4 receptor associated with increased novelty and sensation seeking (less behavioral inhibition).
Both the DAT1 transporter and the DR4D receptor have been associated with ADHD (Motor and attentional in different brain pathways, need to address alterations in isolation).
Alterations in D4 receptor
Associated with increased novelty and sensation seeking (less behavioral inhibition)
DAT1 transporter and the DR4D receptor associated with
associated with ADHD
(These two parts of the brain are involved in controlling things like movement and attention.
Since they affect different areas of the brain, it's important to study and understand changes in each one separately when looking at ADHD).