Inheritance

The Genome

 The entire set of the genetic material of an organism is known as its genome
 In 2003, scientists completed a 13-year project in which they sequenced the genes
that make up the whole human genome.
o This project was named the human genome project
o It helped to develop medical understanding and treatment of genetic
diseases as well as facilitating the study of human migration patterns
 Each gene within the genome is made up of a small section of DNA that codes for
a particular sequence of amino acids
 These sequences of amino acids form different types of proteins
 Alleles are different versions of a gene
o e.g. there are different alleles that code for brown or blue eye colour
o Having 2 alleles of the same type is called homozygous
o Having 2 alleles that are different to one another is called heterozygous
 There are many different types of proteins but some examples of these could be:
o Structural proteins such as collagen found in skin cells
o Enzymes
o Hormones
 Genes control our characteristics as they code for proteins that play important roles
in what our cells do

Chromosomes

 In the nucleus of a cell, the DNA double helix supercoils to form structures
called chromosomes
 They are only visible during cell division
 Ordinary human body cells contain 23 pairs of chromosomes
o This is a diploid number (often shown as 2n)
o One chromosome from a pair is inherited from each parent
o Each chromosome pair is called a homologous pair
 The 23rd pair of chromosomes are the sex chromosomes
o In females, the sex chromosomes are the same, a homozygous
genotype (XX)
o In males, the sex chromosomes are different, a heterozygous
genotype (XY)
 Gametes contain just 23 individual chromosomes
o This is half the full number of a body cell and is called the haploid number
(or n)
 Genes are found in specific locations on the chromosomes, these locations were
identified in the human genome project

The Structure of DNA

 DNA, or deoxyribonucleic acid, is the genetic material found in the nucleus of a

cell
 DNA, is a polymer made up of two strands coiled around to make a double helix
 The strands are formed from a sugar phosphate backbone with bases joined
together by complementary base pairing
 o Adenine pairs with thymine
o Guanine pairs with cytosine
 Cell division and protein synthesis both rely on these base-pairing rules because
each half of the DNA double helix acts as a template to be copied in order to create
a complete new double helix

RNA Structure

 Like DNA, the nucleic acid RNA (ribonucleic acid) is a polynucleotide – it is made
up of many nucleotides linked together in a long chain
 Like DNA, RNA nucleotides contain the nitrogenous bases adenine (A), guanine (G)
and cytosine (C)
 Unlike DNA, RNA nucleotides never contain the nitrogenous base thymine (T) – in
place of this they contain the nitrogenous base uracil (U)
 Unlike DNA, RNA molecules are only made up of one polynucleotide strand (they
are single-stranded)
 Each RNA polynucleotide strand is made up of alternating ribose sugars and
phosphate groups linked together, with the nitrogenous bases of each
nucleotide projecting out sideways from the single-stranded RNA molecule
 An example of an RNA molecule is messenger RNA (mRNA), which is the transcript
copy of a gene that encodes a specific polypeptide. Two other examples are transfer
RNA (tRNA) and ribosomal RNA (rRNA)

Transcription & Translation

 A gene is a sequence of nucleotide bases in a DNA molecule that codes for the
production of a specific sequence of amino acids, that in turn make up a specific
polypeptide (protein)
 This process of protein synthesis occurs in two stages:
o Transcription – DNA is transcribed and an mRNA molecule is produced
o Translation – mRNA (messenger RNA) is translated and an amino acid
sequence (protein) is produced

Transcription

 This stage of protein synthesis occurs in the nucleus of the cell

 Part of a DNA molecule unwinds (the hydrogen bonds between the complementary
base pairs break)
 This exposes the gene to be transcribed (the gene from which a particular
polypeptide will be produced)
 A complementary copy of the code from the gene is made by building a single-
stranded nucleic acid molecule known as mRNA (messenger RNA)
 The mRNA molecule leaves the nucleus via a pore in the nuclear envelope

Translation

 This stage of protein synthesis occurs in the cytoplasm of the cell

 After leaving the nucleus, the mRNA molecule attaches to a ribosome
 In the cytoplasm, there are free molecules of tRNA (transfer RNA)
 These tRNA molecules have a triplet of unpaired bases at one end (known as
the anticodon) and a region where a specific amino acid can attach at the other
 There are at least 20 different tRNA molecules, each with a specific anticodon and
specific amino acid binding site
  The tRNA molecules bind with their specific amino acids (also in the cytoplasm) and
bring them to the mRNA molecule on the ribosome
 The triplet of bases (anticodon) on each tRNA molecule pairs with a
complementary triplet (codon) on the mRNA molecule
 Two tRNA molecules fit onto the ribosome at any one time, bringing the amino acid
they are each carrying side by side
 A peptide bond is then formed between the two amino acids
 This process continues until a ‘stop’ codon on the mRNA molecule is reached – this
acts as a signal for translation to stop and at this point the amino acid chain coded for
by the mRNA molecule is complete
 This amino acid chain then forms the final polypeptide (protein)

Alleles

 A gene is a short length of DNA found on a chromosome that codes for a

particular characteristic (expressed by the formation of different proteins)
 Alleles are variations of the same gene
o As we have two copies of each chromosome, we have two copies of each
gene and therefore two alleles for each gene
o One of the alleles is inherited from the mother and the other from the father
o This means that the alleles do not have to ‘say’ the same thing
o For example, an individual has two copies of the gene for eye colour but one
allele could code for brown eyes and one allele could code for blue eyes
Polygenic Inheritance

 Most characteristics are a result of multiple genes interacting, rather than a single
gene
 Characteristics that are controlled by more than one gene are described as
being polygenic
 Polygenic characteristics have phenotypes that can show a wide range of
combinations in features
 The inheritance of these polygenic characteristics is called polygenic
inheritance (poly = many/more than one)
 Polygenic inheritance is difficult to show using genetic diagrams because of the wide
range of combinations
 An example of polygenic inheritance is eye colour – while it is true that brown eyes
are dominant to blue eyes, it is not as simple as this as eye colour is controlled by
several genes
 This means that there are several different phenotypes beyond brown and blue;
green and hazel being two examples

Monohybrid Crosses

 Monohybrid inheritance is the inheritance of characteristics controlled by a single

gene
 This can be determined using a genetic diagram known as a Punnett square
 A Punnett square diagram shows the possible combinations of alleles that could
be produced in the offspring
 From this, the ratio of these combinations can be worked out
 Remember the dominant allele is shown using a capital letter and the recessive
allele is shown using the same letter but lower case

Pea plants

 The height of pea plants is controlled by a single gene that has two alleles: tall and
short
 The tall allele is dominant and is shown as T
 The small allele is recessive and is shown as t

A pure breeding short plant is bred with a pure breeding tall plant

 The term ‘pure breeding’ indicates that the individual is homozygous for that
characteristic

Mitosis

 Mitosis is defined as nuclear division giving rise to genetically identical cells

 This type of cell division is used for growth, repair of damaged tissues,
replacement of cells and asexual reproduction and is known as mitosis
 Most body cells have two copies of each chromosome
 We describe these cells as diploid
 When cells divide their chromosomes double beforehand (also known as
duplication)
 This ensures that when the cell splits in two, each new cell still has two copies of
each chromosome (is still diploid)
Importance of Mitosis
Importance

 All cells in the body (excluding gametes) are produced by mitosis of the zygote
 Mitosis is important for replacing cells e.g, skin cells, red blood cells and for allowing
growth (production of new cells e.g. when a zygote divides to form an embryo)

Occurs in

 Growth: mitosis produces new cells

 Repair: to replace damaged or dead cells
 Asexual reproduction: mitosis produces offspring that are genetically identical to the
parent

Meiosis

 Meiosis is a type of nuclear division that gives rise to cells that are genetically
different
 It is used to produce the gametes (sex cells)
 The number of chromosomes must be halved when the gametes (sex cells) are
formed
 Otherwise there would be double the number of chromosomes after they join at
fertilisation in the zygote (fertilized egg)
 This halving occurs during meiosis, and so it is described as a reduction division in
which the chromosome number is halved from diploid to haploid, resulting
in genetically different cells
 It starts with chromosomes doubling themselves as in mitosis and lining up in the
centre of the cell
 After this has happened the cells divide twice so that only one copy of each
chromosome passes to each gamete
 We describe gametes as being haploid - having half the normal number of
chromosomes
 Because of this double division, meiosis produces four haploid cells

Phenotypic Variation

 Phenotypic variation can be caused in two main ways:

o It can be genetic - controlled entirely by genes
o Or it can be environmental - caused entirely by the environment in which the
organism lives

Genetic variation

 Meiosis creates genetic variation between the gametes produced by an individual

 This means each gamete carries substantially different alleles
 During fertilization, any male gamete can fuse with any female gamete to form a
zygote
 This random fusion of gametes at fertilization creates genetic variation between
zygotes as each will have a unique combination of alleles
 Zygotes eventually grow and develop into adults
 Examples of genetic variation in humans include:
o Blood group
 o Eye colour
o Gender
o Ability to roll tongue
o Whether ear lobes are free or fixed

Environmental variation

 Characteristics of all species can be affected by environmental factors such as

climate, diet, accidents, culture and lifestyle
 In this instance ‘environmental’ simply means ‘outside of the organism’ and so can
include factors like climate, diet, culture, lifestyle and accidents during lifetime
 Examples include:
o An accident may lead to scarring on the body
o Eating too much and not leading an active lifestyle will cause weight gain
o Being raised in a certain country will cause you to speak a
certain language with a certain accent
o A plant in the shade of a big tree will grow taller to reach more light

Genetic and environmental causes

 Discontinuous variation is usually caused by genetic variation alone

 Continuous features often vary because of a combination of genetic and
environmental causes, for example:
o Tall parents will pass genes to their children for height
o Their children have the genetic potential to also be tall
o However if their diet is poor then they will not grow very well
o Therefore their environment also has an impact on their height
 Another way of looking at this is that although genes decide what characteristics we
inherit, the surrounding environment will affect how these inherited characteristics
develop

Diploid vs Haploid

 A diploid cell is a cell that contains two complete sets of chromosomes (2n)
o These chromosomes contain the DNA necessary for protein synthesis and
cell function
o Nearly all cells in the human body are diploid with 23 pairs (46) of
chromosomes in their nucleus
 Haploid cells contain one complete set of chromosomes (n)
o In other words they have half the number of chromosomes compared to
diploid cells
o Humans have haploid cells that contain 23 chromosomes in their nucleus
o These haploid cells are called gametes and they are involved in sexual
reproduction
o For humans they are the female egg and the male sperm
 Haploidy and diploidy are terms that can be applied to cells across different species
o They describe the number of sets of chromosomes, not the total number of
chromosomes
Mutations

 Mutations are rare, random changes that occur in the sequence of DNA bases in a
gene or a chromosome
 Mutations occur continuously
 As the DNA base sequence determines the sequence of amino acids that make up a
protein, mutations in a gene can sometimes lead to a change in the protein that
the gene codes for
 Most mutations do not alter the protein or only alter it slightly so that its
appearance or function is not changed
 There are different ways that a mutation in the DNA base sequence can occur

The Effects of Mutations

 Most mutations do not alter the protein or only alter it slightly so that its
appearance or function is not changed
 However, a small number of mutations code for a significantly altered protein
with a different shape
 This may affect the ability of the protein to perform its function. For example:
o If the shape of the active site on an enzyme changes, the substrate may no
longer be able to bind to the active site
o A structural protein (like collagen) may lose its strength if its shape changes
 On rare occasions mutations lead to the development of new alleles and so new
phenotypes
 Occasionally, the new allele (and its resulting phenotype) gives the individual
a survival advantage over other members of the species
 For example:
o A bird develops a mutation leading to a change in feather colours
o This makes it more attractive to birds of the opposite sex
o Which causes the bird to breed more frequently and have more chances of
passing on the mutated phenotype to the next generation
 Mutations can also lead to harmful changes that can have dramatic effects on the
body - for example, sickle cell anaemia in humans

Sickle cell anaemia

 Sickle cell anaemia was the first genetic disease to be described in terms of a gene
mutation
 A gene mutation is a change in the base sequence of DNA
 The mutation changes the molecule haemoglobin, causing the red blood cells
(RBC’s) to become stiff and sometimes sickle-shaped when they release oxygen to
the body tissues
 The sickled cells tend to get stuck in narrow blood vessels, blocking the flow of
blood
 As a result, those with sickle cell disease suffer painful “crises” in their joints and
bones
 They may suffer strokes, blindness, or damage to the lungs, kidneys, or heart.
They must often be hospitalized for blood transfusions and are at risk for a life-
threatening complication called acute chest syndrome
 Although many sufferers of sickle cell disease die before the age of 20, modern
medical treatments can sometimes prolong these individuals’ lives into their 40s and
50s
The Causes of Mutations

 Mutations happen spontaneously and continuously but their frequency can be

increased by exposure to the following:
o Gamma rays, x - rays and ultraviolet rays - all types of ionising radiation
which can damage bonds and cause changes in base sequences
o Certain types of chemicals - for example chemicals such as tar in tobacco
 Increased rates of mutation can cause cells to become cancerous, which is why the
above are linked to increased incidence of different types of cancer

Darwin's Theory of Evolution by Natural Selection

 Charles Darwin proposed the theory of evolution by natural selection

o He came up with this theory as a result of observations from a round-the-
world expedition, years of experimentation and his knowledge of geology and
fossils
 Evolution can be defined as the change in the frequency of a phenotype in a
population over many generations
 Darwin’s theory, very simply, is:
o Individuals in a species show a wide range of variation caused by
differences in genes
o Individuals with characteristics most suited to the environment have a
higher chance of survival and more chances to reproduce
o Therefore these characteristics are passed to their offspring at a higher
rate than those with characteristics less suited to survival
o Over many generations, these beneficial characteristics become more
common in the population and the species changes (the species evolves)
 This idea of natural selection became known as ‘survival of the fittest’
 Darwin published his ideas in his famous book, On the Origin of Species (1859)

The acceptance of evolution

 The theory of evolution by natural selection was only gradually accepted because:
o There was much controversy surrounding these revolutionary new ideas
o The theory challenged the idea that God made all the animals and
plants that live on Earth
o There was insufficient evidence at the time the theory was published to
convince many scientists
o The mechanism of inheritance and variation was not known until 50
years after the theory was published
o The theory of evolution by natural selection developed over time and from
information gathered by many scientists