This document provides an overview of genetics and Punnett squares. It defines key genetic terms like allele, genotype, phenotype, dominant and recessive traits. It explains that Gregor Mendel first observed inheritance of traits by breeding pea plants. His work led to the understanding that traits are passed from parents to offspring via discrete units later known as genes. The document then demonstrates how to set up and use a Punnett square to predict offspring ratios for genetic crosses involving dominant and recessive alleles. It provides several examples calculating expected phenotypes from genotype combinations.
Human body cells contain 46 chromosomes- The first 22 pairs are called.pdfkrishnac481
Human body cells contain 46 chromosomes. The first 22 pairs are called autosomes, and they
contain numerous genes that affect the traits of the individual. The last pair, number 23, are the
sex chromosomes. The sex chromosomes determine gender (i.e., either male or female), but there
are other genes on this pair of chromosomes as well. Males sex chromosomes are XY, while
female sex chromosomes are XX . The gametes in a human (either egg cells or sperm cells)
contain only 23 chromosomes. Fertilization, the fusion of an egg and a sperm, restores the total
of 46 chromosomes in a human zygote. Non-gamete cells are called somatic cells, and they have
all 46 chromosomes in them. 1. Your sex chromosomes: XX Just as in Mendel's pea plant
experiments, genes in humans can be dominant or recessive, and the results of "crosses" can be
predicted using Punnett squares. A phenotype is the physical expression of a gene (made up of a
pair of alleles). The genotype is the actual genetic makeup of the allele pair. An individual
having two identical alleles for a gene is said to be homozygous. There can be homozygous
dominant or homozygous recessive combinations. Dominant traits are represented by capital
letters; recessive by lower case letters. An individual having non-identical alleles for a gene is
said to be heterozygous. Note that the phenotype of a heterozygous individual is determined by
the dominant gene. Dominant alleles tend to cover up the presence of any recessive alleles. In a
case of alleles that show simple dominance / recessiveness, it is not possible to know if an
individual who possesses a dominant trait has the homozygous dominant or the hatarnzunniic
nanntune haced an nhanntuns tha onlv nne wo knnwe for rertain is the Accessibility: Investigate
Example: What phenotypes and genotypes could one expect from a cross between two pea
plants, one true-breeding for yellow seeds and the other true-breeding for green seeds? Yellow
seeds are dominant to green. Complete the Punnett square below. Y The true-breeding The true-
breeding green seed plant yellow seed plant can only contribute can only contribute a recessive
allele. a dominant allele. Many human traits are controlled by a single pair of alleles and through
simple dominant and recessive rules. Example: Tongue rolling - If you can roll your tongue
lengthwise, you have the trait controlled by the dominant allele. Let " R " represent the dominant
allele in your genotype and r represent the recessive allele. If you have the dominant phenotype,
how do you know if you are homozygous dominant or heterozygous. That depends upon
knowing if one of your parents couldn't roll their tongue. For example, my Dad cannot roll his
tongue but I can. So, my genotype is Rr for this trait. If you do know know about your parents,
then you have to put both possible genotypes for yourself, i.e. RR or Rr . 2. What is your
phenotype (roller or non-roller)? 3. What is your genotype? A. If you and your parents can both
ro.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...Ana Luísa Pinho
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
Human body cells contain 46 chromosomes- The first 22 pairs are called.pdfkrishnac481
Human body cells contain 46 chromosomes. The first 22 pairs are called autosomes, and they
contain numerous genes that affect the traits of the individual. The last pair, number 23, are the
sex chromosomes. The sex chromosomes determine gender (i.e., either male or female), but there
are other genes on this pair of chromosomes as well. Males sex chromosomes are XY, while
female sex chromosomes are XX . The gametes in a human (either egg cells or sperm cells)
contain only 23 chromosomes. Fertilization, the fusion of an egg and a sperm, restores the total
of 46 chromosomes in a human zygote. Non-gamete cells are called somatic cells, and they have
all 46 chromosomes in them. 1. Your sex chromosomes: XX Just as in Mendel's pea plant
experiments, genes in humans can be dominant or recessive, and the results of "crosses" can be
predicted using Punnett squares. A phenotype is the physical expression of a gene (made up of a
pair of alleles). The genotype is the actual genetic makeup of the allele pair. An individual
having two identical alleles for a gene is said to be homozygous. There can be homozygous
dominant or homozygous recessive combinations. Dominant traits are represented by capital
letters; recessive by lower case letters. An individual having non-identical alleles for a gene is
said to be heterozygous. Note that the phenotype of a heterozygous individual is determined by
the dominant gene. Dominant alleles tend to cover up the presence of any recessive alleles. In a
case of alleles that show simple dominance / recessiveness, it is not possible to know if an
individual who possesses a dominant trait has the homozygous dominant or the hatarnzunniic
nanntune haced an nhanntuns tha onlv nne wo knnwe for rertain is the Accessibility: Investigate
Example: What phenotypes and genotypes could one expect from a cross between two pea
plants, one true-breeding for yellow seeds and the other true-breeding for green seeds? Yellow
seeds are dominant to green. Complete the Punnett square below. Y The true-breeding The true-
breeding green seed plant yellow seed plant can only contribute can only contribute a recessive
allele. a dominant allele. Many human traits are controlled by a single pair of alleles and through
simple dominant and recessive rules. Example: Tongue rolling - If you can roll your tongue
lengthwise, you have the trait controlled by the dominant allele. Let " R " represent the dominant
allele in your genotype and r represent the recessive allele. If you have the dominant phenotype,
how do you know if you are homozygous dominant or heterozygous. That depends upon
knowing if one of your parents couldn't roll their tongue. For example, my Dad cannot roll his
tongue but I can. So, my genotype is Rr for this trait. If you do know know about your parents,
then you have to put both possible genotypes for yourself, i.e. RR or Rr . 2. What is your
phenotype (roller or non-roller)? 3. What is your genotype? A. If you and your parents can both
ro.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...Ana Luísa Pinho
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
A brief information about the SCOP protein database used in bioinformatics.
The Structural Classification of Proteins (SCOP) database is a comprehensive and authoritative resource for the structural and evolutionary relationships of proteins. It provides a detailed and curated classification of protein structures, grouping them into families, superfamilies, and folds based on their structural and sequence similarities.
Observation of Io’s Resurfacing via Plume Deposition Using Ground-based Adapt...Sérgio Sacani
Since volcanic activity was first discovered on Io from Voyager images in 1979, changes
on Io’s surface have been monitored from both spacecraft and ground-based telescopes.
Here, we present the highest spatial resolution images of Io ever obtained from a groundbased telescope. These images, acquired by the SHARK-VIS instrument on the Large
Binocular Telescope, show evidence of a major resurfacing event on Io’s trailing hemisphere. When compared to the most recent spacecraft images, the SHARK-VIS images
show that a plume deposit from a powerful eruption at Pillan Patera has covered part
of the long-lived Pele plume deposit. Although this type of resurfacing event may be common on Io, few have been detected due to the rarity of spacecraft visits and the previously low spatial resolution available from Earth-based telescopes. The SHARK-VIS instrument ushers in a new era of high resolution imaging of Io’s surface using adaptive
optics at visible wavelengths.
Multi-source connectivity as the driver of solar wind variability in the heli...Sérgio Sacani
The ambient solar wind that flls the heliosphere originates from multiple
sources in the solar corona and is highly structured. It is often described
as high-speed, relatively homogeneous, plasma streams from coronal
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under debate. A key goal of ESA/NASA’s Solar Orbiter mission is to identify
solar wind sources and understand what drives the complexity seen in the
heliosphere. By combining magnetic feld modelling and spectroscopic
techniques with high-resolution observations and measurements, we show
that the solar wind variability detected in situ by Solar Orbiter in March
2022 is driven by spatio-temporal changes in the magnetic connectivity to
multiple sources in the solar atmosphere. The magnetic feld footpoints
connected to the spacecraft moved from the boundaries of a coronal hole
to one active region (12961) and then across to another region (12957). This
is refected in the in situ measurements, which show the transition from fast
to highly Alfvénic then to slow solar wind that is disrupted by the arrival of
a coronal mass ejection. Our results describe solar wind variability at 0.5 au
but are applicable to near-Earth observatories.
2. Early Genetics
• The study of genetics
began with observations
made by Gregor Mendel.
• After noticing that the
flowers his pea plants
were either violet or
white, Mendel began to
study the segregation of
heritable traits.
Between 1856 and 1863
he cultivated and tested
at least 28,000 pea
plants.
Remember that Mendel worked almost 150 years ago when nobody
knew about genes or even the structures (chromosomes) that carry
genes.
4. Lets consider a single gene…
• A gene carries
information that
determines your traits.
Traits are
characteristics you
inherit from your
parents.
• Genes are located in
chromosomes.
• Chromosomes come in
pairs and there are
thousands, of genes in
one chromosome.
5. Continued…
• In humans, a cell’s nucleus
contains 46 individual
chromosomes or 23 pairs of
chromosomes.
• Half of the chromosomes
come from one parent and
half come from the other
parent.
This is a human
karyotype
representing the 23
pairs of
chromosomes in a
male
Here is the detailed
structure of a
chromosome
6. Definitions
• Allele- discrete version of the same gene
• Genotype- the genes of an organism for one
specific trait
• Phenotype- the physical appearance of a trait in
an organism
7. Definitions
• Dominant trait refers to a genetic feature
that “hides” the recessive trait in the
phenotype of an individual.
• The term "recessive” describes a trait that
is covered over (or dominated) by another
form of that trait and seems to disappear.
• Homozygous= two alleles that are the same
for a trait (Pure)
• Heterozygous= two different alleles for a
trait (Hybrid)
8. Practice
• We use two letters to represent the genotype.
A capital letter represents the dominant form
of a gene (allele) and a lowercase letter is the
abbreviation for the recessive form of the
gene (allele).
• Example below: P=dominant purple and p=
recessive white
The phenotype for this
flower is violet while
its genotype (if
homozygous) is PP.
The phenotype for this
flower is white while
its genotype is pp (to
be white the flower
must have two of the
recessive copies of the
allele).
9. Punnett Squares
The Punnett square is
the standard way of
working out what the
possible offspring of
two parents will be.
– It is a helpful tool to
show allelic
combinations and
predict offspring ratios.
10. Before we go further lets review how to set
up a Punnett Square…
We begin by constructing a grid of two
perpendicular lines.
11. Next, put the genotype of one parent across
the top and the other along the left side.
For this example lets consider a genotype of BB crossed with bb.
B B
b
b
• Notice only one
letter goes above
each box
• It does not matter
which parent’s
genotype goes on
either side.
12. Next, fill in the boxes by copying the column
and row head-letters down and across into
the empty spaces.
B B
b B
B
B
B
b
b
b
b
b
13. Punnett Squares
Now that we have learned the
basics of genetics lets walk
through some examples using
Punnett Squares.
14. Lets say:
W- dominant white
w- recessive violet
W w
W
Parents in this cross are heterozygous (Ww).
Note: Make sure I can tell your capital letters from
lowercase letters.
What percentage of the offspring will have violet
flowers?
ANSWER: 25% (homozygous recessive)
Usually write the
capital letter first
w
W W W w
W w w w
15. Red hair (R) is dominant over blond hair (r). Make a
cross between a heterozygous red head and a
blond.
Rr rr
Rr rr
R r
r
r
What percentage of the offspring will have red hair? 50%
16. Let’s try some more…
In pea plants, tall pea plants (T) are dominant
over short pea plants (t). Construct a Punnett
Square for a heterozygous tall pea plant and a
short pea plant.
Tt tt
Tt tt
T t
t
t
What are the
percentage of
phenotypes?
50% tall
50% short
17. Black eyes (R) is dominant over red eyes (r)
in rats. Make a cross between a homozygous rat
with black eyes and a rat with red eyes.
Rr Rr
Rr Rr
R R
r
r
What is the possibility of
a red eye off springs?
0%
