How much genetic variation is there in

humans?
Types of variation
http://www.dunlaplibrary.org/dev/hands-pic-small/

Inheritance
Part 4
G10

Mirtha Ramírez B.
Introduction

Genetic variation can lead directly to specific phenotypes, as Mendel

demonstrated using traits in pea plants.

However, traits are often determined in more complex ways.

The range of variation seen in many organisms cannot be fully

explained by classical genetics.
 Here is a brief introduction to the range of
factors that influence phenotype
▪ More than one gene may affect a single trait (polygenic ▪ Some alleles are not expressed in all individuals (penetrance of
traits) the allele)
For example, human eye colour is polygenic because it is For example, BRCA1 alleles have incomplete penetrance because
determined largely by two genes with some additional even though they greatly increase the risk of breast cancer, some
influence from genes on at least a dozen loci women with the allele never develop cancer.
▪ A single gene may affect multiple traits (pleiotropic genes) ▪ Some alleles are expressed with varying intensity (expressivity
of the allele)
For example, the CFTR gene codes for a transmembrane
protein with effects in multiple organs. When the cystic For example, the polydactyly allele in cats (which causes extra
fibrosis allele is homozygous, the functions of the lungs, toes) has varied expressivity because some cats with the allele
intestines and pancreas are all affected. have only one or two extra toes, while others have four extra toes
per paw.
▪ A gene may impact the expression of another gene
(epistatic genes) ▪ Some genetically influenced traits also have important
environmental influences.
For example, the TYR gene produces a polypeptide that is a
necessary first step in creating the melanin that gives skin, For example, some alleles of the MC1R gene cause freckling
hair, and eyes their many possible colours. When the TYR when the skin is exposed to sun. The development of freckles has
gene is not functional, the individual will exhibit albinism both genetic components and environmental aspects related to the
(lack of pigment) no matter which alleles are present in the amount and intensity of sunlight the individual experiences.
genes that normally determine the level of pigmentation.
 How much genetic variation is there in humans? This is a big question, without a simple answer. We can break it
down into smaller questions for you to research (ATL: Evaluate and select information sources and digital tools based on their
appropriateness to specific tasks)

Do all humans have the same number of Do all humans have the same sequence of
chromosomes or is there variation? genes on their chromosomes?

▪ Genes are made of DNA and are grouped together ▪ Every chromosome has a linear sequence of genes

on long DNA molecules called chromosomes. on it, usually with sections of non-coding DNA

DNA molecules are very narrow, so chromosomes between one gene and the next. Chromosomes that

are only clearly visible when they coil up during have the same sequence of genes (and therefore the

mitosis. This is the process that divides a nucleus same structure) can pair up during meiosis. Special

into two genetically identical nuclei shortly before stains can be used to show differences in structure

the cell splits in two. Chromosomes can be spread between chromosomes. These reveal that body cells

out and be counted if a cell in mitosis is placed on a normally have two of each type of chromosome,

microscope slide and pressure is applied to burst it with the same sequence of genes.
 ATL: Information literacy skills:Finding, interpreting, judging and creating information/Evaluate and select
information sources and digital tools based on their appropriateness to specific tasks

How many combinations of How many different single nucleotide

chromosomes could there be in one polymorphisms have been discovered in humans?
human’s gametes?

▪ The pairs of chromosomes that form during

meiosis are oriented randomly, so each gamete can ▪ A gene is a length of DNA with a specific sequence
receive either one of each pair of chromosomes. of bases. Alleles of a gene differ in their base
▪ A horse roundworm, Parascaris equorum, has two sequence. The commonest differences are single
pairs of chromosomes which gives four possible nucleotide polymorphisms (SNPs), which affect just
combinations of chromosomes. The yellow fever one base. SNPs can have major consequences. For
mosquito, Aedes aegypti, has three pairs and so eight example, one base change from adenine to thymine
combinations of its chromosomes are possible. in the hemoglobin gene causes sickle-cell anemia.
 Variation can be discrete or continuous.

▪ Where individuals fall into a number of

distinct categories, the variation is
discrete or discontinuous.
▪ Blood types are an example of discrete
variation.
▪ While there are several blood types, there
are no in-between categories.
▪ Figure 5 shows the frequency of each of
the blood type phenotypes in a population
sample from Iceland.
 Traits that show continuous variation display an unbroken range of phenotypes in the population.

In other words, for any two phenotypes, there can be an intermediate between them.
Traits with continuous variation are often polygenic traits, with the many variations created by combining
the effects of various alleles of multiple genes.

Continuous variation is very common.

Some examples include height and skin colour in humans,

fur colour in some mammals and milk yield in cows

The phenotypes of polygenic characteristics tend to

show continuous variation.
 Polygenic inheritance-A single characteristic controlled by multiple genes

Human skin colour

Human skin colour depends on the amount of the

pigment melanin that is produced in the skin. Melanin
synthesis is controlled by genes.

The degree of pigmentation can range from the very

dark skin of people originating from regions such as
Namibia in southern Africa, through to
the very pale skin of native Scandinavian people

Several genes are involved in determining skin colour and they https://www.ted.com/talks/nina_jablonski_skin_color_is_an_illusion

produce the almost continuous variation that can be seen in the

global human population
 What caused variation in human skin color?
▪ Fossil evidence shows that the rst modern
humans (Homo sapiens)

▪ lived in sub-Saharan Africa. Their pre-human

ancestors in Africa

▪ had developed dark skin over a million years ago.

Between 100,000

▪ and 70,000 years ago groups of humans migrated

out of Africa and

▪ spread through Europe, North and South America

and Asia. As they

▪ migrated north there were changes in skin color,

resulting in the

▪ current pattern of lighter skin colors in

long-established populations

▪ living further north.

In the example, below only three genes are shown
In this simplified example, there are 64 possible allele combinations, which
result in the production of 7 different colored skin tones.

The skin tones which are least likely to occur are those resulting from entirely
homozygous genotypes.
The lightest skin tone, 0 (aabbcc), which lacks any alleles contributing
melanin pigment, or

the darkest skin tone, 6 (AABBCC), which contains all possible contributing
alleles; each of these phenotypes occurs at a probability of 1/64.

As the number of contributing alleles changes within the allele

combinations, the units of melanin pigment increases and decreases;

the probability of the second lightest or darkest skin tones (1 or 5) is 6/64,

the third lightest or darkest skin tones (2 or 4), is 15/64

and an entirely intermediate skin tone (3) is the most common at 20/64.

As shown in the histogram above, this pattern fits the normal distribution.
Distribution of height in a human population.

app.kognity.com
 Environmental factors

Human Trait Influencing Most traits, including

Environment factors polygenetic traits such as
height,
Height
• Dietary factors (e.g. protein content) maybe influenced by the
• Certain childhood diseases. environment of the
organism.
Skin colour There are numerous ways
• Exposure to sun in which this can happen.
• Burns
• Scaring
Height is influenced by the environment,
some experts estimating that 60–80% of
height variation is genetic and 20–40% is
environmental.

One of the most important

environmental influences is diet.

In the last century, an increase in

availability of both vitamins and overall
calories has led to a marked increase in
average height
 In a recent publication in Nature, scientists were able
to manipulate the inheritance of the fur colour by
changing the diet of the pregnant mice

These three mice are genetically identical; however, they

developed in surrogate mothers that were fed different diets. In
this case, fur colour shows an environmental component.
Observable Human Characteristics
examples of variable traits that are easy to observe.

If earlobes hang free, they are detached.

If they connect directly to the sides of
the head, they are attached.
Earlobe attachment is a continuous
trait: while most earlobes can be neatly
categorized as attached or unattached,
some are in-between.
 Some people can curl up the sides of their tongue to
form a tube shape. In 1940, Alfred Sturtevant observed
that about 70% of people of European ancestry could
roll their tongues and the remaining 30% could not.

Many sources state that tongue rolling is controlled by a single

gene. However, as Sturtevant observed, people can learn to roll
their tongue as they get older, suggesting that environmental
factors—not just genes—influence the trait
Dimples are small, natural indentations on the cheeks. They can appear on
one or both sides, and they often change with age. Some people are born
with dimples that disappear when they’re adults; others develop dimples
later in childhood.

Dimples are highly heritable, meaning that people who have dimples tend to
have children with dimples—but not always. Because their inheritance isn't
completely predictable, dimples are considered an “irregular” dominant
trait. Having dimples is probably controlled mainly by one gene but also
influenced by other genes.
Handedness describes our preference for using either our left or
right hand for activities such as writing and throwing a ball.
Overall, about 10% of people are left-handed, but the number
varies among cultures from 0.5% to 24%.

Some have reported that handedness is controlled by just one or two genes, but this is not the case. Multiple
studies present evidence that handedness is controlled by many genes—at least 30 and as many as 100—each
with a small effect; many are linked to brain development. Environment also plays an important role: some
cultures actively discourage left-handedness.
Freckles are small, concentrated spots of a skin pigment called
melanin. Most fair-skinned, red-haired people have them.

Freckles are controlled primarily by the MC1R gene. Freckles

show a dominant inheritance pattern: parents who have freckles
tend to have children with freckles.

Variations, also called alleles, of MC1R control freckle number. Other genes and the environment
influence freckle size, color, and pattern. For example, sun exposure can temporarily cause more freckles
to appear.
Round hair follicles make straight hair, flattened or c-shaped hair follicles make
curly hair, and oval hair follicles make wavy hair. Hair texture is a continuous
trait, meaning that hair can be straight or curly or anywhere in between.

Curly hair is influenced by genes much more than by the environment.

However, its inheritance patterns are often unpredictable.
Curly hair

Multiple genes control hair texture, and different variations in these genes are
found in different populations.
For instance, curly hair is common in African populations, rare in Asian
populations, and in-between in Europeans. Straight hair in Asians is mostly
caused by variations in two genes—different genes from the ones that
influence hair texture in Europeans.
And different genetic variations make hair curly in African and European
populations.
 Without thinking about it, fold your hands together by
interlocking your fingers. Which thumb is on top—your
Hand clasping left or your right?

One study found that 55% of people place their left thumb on
top, 45% place their right thumb on top, and 1% have no
preference.

A study of identical twins concluded that hand clasping has a

strong genetic basis (most twins share the trait), but it doesn’t
fit a predictable inheritance pattern.

It is likely affected by multiple genes as well as

environmental factors.
If your hairline forms a point at the center of the forehead, you have a widow's peak. If not, you have a straight
hairline. While some sources say that widow’s peak is a dominant trait controlled by one gene, no scientific study
supports this claim.

Complicating the question of

heritability is the fact that
Hairline shape
the trait is continuous: some
people have just a slight
suggestion of a peak.

Widow's peak is likely controlled by genes rather than the environment.

But while hairline shape tends to run in families, its pattern of inheritance
is usually unpredictable, suggesting that multiple genes are involved.
 PTC tasting

To about 75% of us, the chemical PTC (phenylthiocarbamide)

tastes very bitter. For the other 25%, it is tasteless.

The ability to taste PTC is controlled mainly by a single gene

that codes for a bitter-taste receptor on the tongue.
Different variations, or alleles, of this gene control whether
PTC tastes bitter or not.

PTC tasting follows a very predictable pattern of inheritance.

Tasting is dominant, meaning that if you have at least one copy

of the tasting version of the gene, you can taste PTC.
Non-tasters have two copies of the non-tasting allele.

PTC stands for phenylthiocarbamide. Also known as phenylthiourea, the

chemical structure of PTC resembles toxic alkaloids found in some
poisonous plants.
Although PTC is not found in nature, the ability to
taste it correlates strongly with the ability to taste
other bitter substances that do occur naturally, many
of which are toxins.

Plants produce a variety of toxic compounds in order

to protect themselves from being eaten.

The ability to discern bitter tastes evolved as a

mechanism to prevent early humans from eating
poisonous plants.
Plants are much more likely than animals to
Humans have about 30 genes that code for bitter
contain toxins. Because avoiding bitter plants
taste receptors. Each receptor can interact with
would severely limit their food sources, strict
several compounds, allowing people to taste a wide
herbivores have fewer bitter taste genes than
variety of bitter substances.
omnivores or carnivores. Instead, animals that
graze on plants have a high tolerance to toxins.
Grazers have large livers that are able to break
down toxic compounds
Practical: Human variation

The data for the whole class should be recorded in the form of a
table as shows below.
One student should share a document in drive to all classmates.
Each student should enter the own data.
Student ear lobes Thumbs tongue Index-finger and..complete the
rolling length (mm) table with all
yes/no on the top
yes/no characteristics
which you have
measured/observed
1
2
…
 Wha
t
you trait did
s
me? elect to
..wo
of!

HW :Looking
at Human
Variation
Due: check GC
Andrew, Davis. Sciences for the IB
MYP 4&5 (Myp By Concept) .2017
Hodder Education. Edición de Kindle.

MYP Biology 4&5. Andrew Allott&David

Mindor,Oxford University Press, 2017