DNA, Genes and The Continuity of Life

11/6/2016 DNA,
Genes and the Continuity of Life
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11/6/2016 DNA, Genes and the Continuity of Life
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1. 1. DNA, Genes and the Continuity of Life Sarah Jones blog.lgcgroup.com
2. 2. • Deoxyribonucleic acid (DNA) is a molecule that contains all of the information that determines
who you are and what you look like. The “Blueprint of Life”. • In 1869 Friedrich Miescher isolated
chemicals that were later called nucleic acids. This lead to the identifications of DNA as the carrier of
inheritance. bastiaandegoede
3. 3. • In 1953 James Watson and Francis Crick established the ‘double helix’ shape of DNA. • The sides
of the ladder like structure are a chain of alternating sugar and phosphate molecules. • The rungs of the
• Deoxyribonucleic acid (DNA) is a molecule that contains all of the information that determines who you
ladder are bases that are attached to the sugar molecules.
4. 4. • Each rung is made up of two chemicals called bases. – Adenine (A) – Thymine (T) – Guanine (G)
– Cytosine (C) • Base Pairs: AT and GC linked form a rung. • Remember – At The Gold Coast
5. 5. • Nucleotide – consists of a sugar, phosphate and base. • Gene – a segment of DNA that codes for a
protein, which in turn codes for a trait. – Skin tone, eye colour etc. staff.jccc.net
6. 6. • DNA contains the coding that makes up the building blocks of you body – amino acids. • Amino
acids join together to make proteins and proteins are used to make new cells. • There are 20 amino
acids. blueprintsforliving.com
7. 7. • Amino acids are coded by combinations of three bases – AAA and AAG both make the amino acid
phenylalanine. • Triplet codes GGA, GGG, GGT and GGC make the amino acid proline.
www.chemtube3d.com
8. 8. • Organism • Cell • Nucleus • Chromosome • DNA • Gene www.csiro.au
9. 9. Mitochondria are structures within cells that convert the energy from food into a form that cells can
use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a
small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA.
dnatestingexpert.com
10. 10. Mitochondrial DNA contains genes that provide instructions for making enzymes involved in
oxidative phosphorylation a process that uses oxygen and simple sugars to create adenosine
triphosphate (ATP), the cell's main energy source. http://ghr.nlm.nih.gov/mitochondrialdna
en.wikipedia.org
11. 11. Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick The main people responsible
for the discovery of DNA are Rosalind Franklin and Maurice Wilkins from a research unit at King's
College, London, and James Watson and Francis Crick from Cambridge University, England. The
story of Rosalind Franklin would have been quite different if she were born male. During the middle of
the twentieth century, women were not encouraged to study science. Franklin Wilkins
12. 12. Franklin researched Xray crystallography, a method of determining the structure of crystals based
are and what you ...
on the use of Xrays. Rosalind contributed to the development of this technology by pioneering its use
in analysing a variety of substances, including DNA. The Cambridge team of Watson and Crick made
a failed model of DNA and were told to stop their research. Watson Crick
13. 13. Franklin mostly worked alone because she and Wilkins could not get along. He assumed she was to
assist his work while Franklin assumed she would be the only one working on DNA. Franklin
suspected that all DNA had a helix structure but did not want to announce this finding until she had
sufficient evidence. Wilkins was frustrated and showed Franklin's results to Watson without her
knowledge or consent. learn.crystallography.org.uk
14. 14. The information Watson and Crick received from Wilkins was crucial to the ultimate discovery of
DNA. It was principally these Xray diffraction techniques developed by Franklin that allowed Watson
and Crick to suggest the double helix structure for DNA. The work of Wilkins and Franklin was
acknowledged in this paper. The structure so perfectly fit the experimental data that it was accepted
almost immediately. www.lifesciencesfoundation.org
15. 15. Rosalind Franklin died of cancer in 1958 at the age of 37. In 1962 the Nobel Prize for physiology
and medicine went to James Watson, Francis Crick and Maurice Wilkins for their role in the discovery
of the structure of DNA.
16. 16. Chromosomes • The way living things pass on traits – skin tone, eye colour etc. • Chromosomes
are formed of a single DNA molecule that contains many genes.
17. 17. Some of our worst diseases result from chromosomes that have failed to function correctly e.g.
polycystic kidney disease, Huntington’s disease, sickle cell anaemia, haemophilia. en.wikipedia.org
18. 18. Chromosomes • Humans contain 23 pairs • Chromosomes determine if you are male or female.
19. 19. Humans have 46 chromosomes – 23 from each parent.
20. 20. • Two of the 46 chromosomes are called sex chromosomes and the determine the sex of an
individual – XX or XY • The other 44 chromosomes are referred to as autosomes. ibbiologyhelp.com
21. 21. • Sex cells – ova and sperm only have half of the number of chromosomes as the rest of the cells in
your body. • Ova – only X • Sperm – X or Y therefore, your father determines your sex.
22. 22. • Identical twins occur when a fertilised egg divides in two – the babies are genetically the same. •
Fraternal twins occur when two eggs are fertilised – the twins are not genetically the same.
petapixel.com
23. 23. Meiosis • Mitosis is cell division where a cell reproduces by splitting to form two identical
offspring. • Meiosis (reductive division) is cell divisions that only happens in the reproductive organs –
ovaries and testes. • Meiosis produces cells which have half the number of chromosomes.
24. 24. • The nucleus of normal human body cells consist of 46 chromosomes or 23 pairs of chromosomes
(2 of each chromosome). • This is referred to as the diploid number for humans (2n). • Gametes, sex
cells, only have one set of chromosomes (23). • This is referred to as the haploid number for humans
(n).
25. 25. Fertillisation is the fusion of haploid male and female gametes, to form a diploid number of
chromosomes in a zygote.
• In 1953 James Watson and Francis Crick established the ‘double helix’ shape of DNA. • The sides of the
26. 26. Meiosis I • Homologous chromosomes pair up. They are called a bivalent. • Nonsister chromatids
cross over at points called chiasmata. • They may exchange genetic material – crossing over. •
Homologous pairs line up at equator. • Maternal and paternal chromosomes of each pair line up
independently of other pairs –independent assortment. • Homologous chromosomes separate and move
towards opposite poles. • Two new cells form, each with half the original chromosome number.
Meiosis II • New spindle apparatus forms. • Chromosomes line up at the equator in a single line. •
Centromeres divide and sister chromatids move towards opposite poles. • Each cells divides, resulting
in a total of four haploid cells. • Each cell formed is genetically unique due to crossing over and
independent assortment.
27. 27. https://online.science.psu.edu/biol011_sandbox_7239/node/7288
28. 28. https://online.science.psu.edu/biol011_sandbox_7239/node/7288
29. 29. • In prophase I of meiosis I, two things happen that don’t happen in mitosis. • Diploid (2N) cells
contain two copies of each chromosome, one from the mother and one from the father. • In meiosis I,
these pairs of chromosomes find each other in the cell (we don't completely understand the signals
used), but it does occur and in most cases without error. CrossingOver www.vce.bioninja.com.au
30. 30. • After locating each other, these chromosomes interact and pair in a process called synapsis. •
During synapsis, the cells align themselves along their entire length, matching gene for gene. • Then
the cells exchange pieces of their DNA through a process called "crossing over” producing a unique
chromosome, genetically distinct from both the maternal and paternal chromosomes
(https://online.science.psu.edu). www.vce.bioninja.com.au
31. 31. Synapsis https://online.science.psu.edu/biol011_sandbox_7239/node/7288
32. 32. CrossingOver https://online.science.psu.edu/biol011_sandbox_7239/node/7288
33. 33. Mitosis • Produces new cells identical to the original cell. • How plants and animals grow and
replace dead and damaged cells. • Some organisms reproduce using mitosis – asexual reproduction.
b4fa.org
34. 34. Binary Fission 1. The bacterium before binary fission is when the DNA is tightly coiled. 2. The
ladder like struc...
DNA of the bacterium has replicated. 3. The DNA is pulled to the separate poles of the bacterium as it
increases size to prepare for splitting. 4. The growth of a new cell wall begin. 5. The new cell wall
fully develops, resulting in the complete split of the bacterium. 6. The new daughter cells have tightly
coiled DNA, ribosomes, and plasmids. http://en.wikipedia.org/wiki/Fission
35. 35. DNA Replication • DNA Replication is semiconservative. • After DNA replication, each new
DNA double helix molecule contains: –One old strand. –One new strand. en.wikipedia.org
36. 36. Enzymes Involved in DNA Replication Two enzymes are involved in the process: • Helicase
unwinds the DNA double helix molecule. • Helicase then unzips the DNA double helix molecule by
breaking the hydrogen bonds between the complementary bases. • DNA polymerase attaches new
nucleotides to the old DNA strands. www.di.uq.edu.au
37. 37. Ref: IB Biology, OSC
38. 38. Ref: Biology for the IB Diploma, Allott
39. 39. DNA and RNA • There are TWO types of Nucleic acids – DNA and RNA • Both consist of chains
of nucleotides, each composed of a sugar, a base and a phosphate. • Three differences between DNA
and RNA: Feature DNA RNA No. of Strands Two Strands One Strand Sugar Deoxyribose Ribose
Bases AT, CG AU, CG U = Uracil
40. 40. Protein Synthesis • The flow of information for organisms is unidirectional. DNA RNA
Protein • There are two main processes involved in Protein Synthesis: – Transcription • Where a
molecule of mRNA is formed from the DNA template strand. – Translation • Where the mRNA
sequence is converted into a polypeptide chain.
41. 41. learn.genetics.utah.edu
42. 42. Transcription • DNA RNA. • Process in which the message written in DNA code is transcribed
into a working copy of mRNA (messenger RNA). www.mun.ca
43. 43. Transcription Process The process is: –The RNA polymerase enzymes separate the two strands of
DNA. –One strand of the DNA is used as a template for mRNA synthesis. –RNA polymerase forms
the mRNA molecule using Uracil instead of Thymine. –When the mRNA molecule is complete, it
breaks away from the DNA and travels through the nuclear pores into the cytoplasm. –The DNA
strands rejoin.
44. 44. en.wikipedia.org
45. 45. Translation • RNA Protein • Process in which a polypeptide chain is built from a codon
sequence on the mRNA molecule. commons.wikimedia.org
46. 46. Translation The process is: –The mRNA molecule attaches to a Ribosome. –tRNA molecules bring
specific amino acids to the ribosome according to the codon on the mRNA. –There is a different tRNA
molecule for each of the 61 codons. –Each tRNA molecule is about 80 nucleotides long and is folded
into a clover shape. –At one end there is an exposed triplet of bases called an anticodon and at the
other a specific amino acid. –The anticodon on the tRNA matches the codon on the mRNA.
47. 47. Ref Biology for the IB Diploma, Allott
48. 48. • Environmental variation – differences in characteristics caused by surrounds or living conditions.
• Each rung is made up of two chemicals called bases. – Adenine (A) – Thymine (T) – Guanine (G) –
• Inherited variation – differences in characteristics that are passed on from parents to offspring. •
Natural selection – passing on inherited characteristics that make living thins best adapted for survival.
• Selective breeding – producing specific offspring that have useful characteristics of both parents.
Inheritance and Selection
49. 49. Gregor Mendel 18221884 • An Austrian monk who worked on his garden at the monastery and
noted how the characteristics of plants were passed on from one generation to the next. • The results of
Mendel's research became the foundation of modern genetics.
50. 50. Pea Plants • One of the main variations Mendel noted was that some peas were smooth and some
wrinkled. • When he cross bred these peas – using the pollen from the flowers, he noted that all of the
offspring were smooth. www.fws.gov
51. 51. He then took smooth peas and cross pollinated these plants – he noted that ¾ of the peas were
smooth and ¼ wrinkled. mrjohnston.org
52. 52. • Mendel realised that the peas had two factors inside of them – one from each parent. • Smooth
peas – SS • Wrinkled peas – ww • Mendel deduced that the smooth factor (gene) is dominant and the
wrinkled factor is recessive. rowdy.msudenver.edu
53. 53. Punnett Square w w S Sw Sw S Sw Sw When these two peas SS and ww were crossed all of the
offspring were smooth because S is dominant.
54. 54. Second Generation S w S SS Sw w Sw ww ¼ of offspring were wrinkled.
55. 55. • Genotype – the type of genes e.g. SS and ww the dominant gene is always written as a capital. •
Alleles – the possible genes in the sex cells e.g. S and w • Phenotype – how the genotype displays e.g.
smooth or wrinkled. • Homozygous – contains only one type of gene e.g. SS or ww • Heterozygous –
two types of genes e.g. Sw
56. 56. Guinea Pigs • Short fur is dominant (F) and long fur recessive (f). • If a heterozygous guinea pig
mated with a homozygous long hair guinea pig we would get the following results. F f f Ff ff f Ff ff 50
% Short fur and 50% Long fur
57. 57. • Brunette hair is dominant and blonde recessive. • Therefore, if the parents genes are homozygous
brunette and blonde all offspring will be brunette. B B b Bb Bb b Bb Bb
Cytosine (C) • Base Pair...
58. 58. Incomplete Dominance • Purebred budgies are yellow and blue birds. • Green budgies result from
one parent with blue feathers and one with yellow. • Both parents are homozygous and the two alleles
are not dominant or recessive and result in a blend of characteristics. animalworld.com
59. 59. Polygenic Inheritance • When characteristics are controlled by more than one gene. • Examples of
traits controlled by polygenic inheritance are: – seed colour in wheat, skin colour and eye colour
Polygenic Inheritance of Grain Wheat Colour www.ib.bioninja.com.au
60. 60. • There are four ABO blood groups in humans: A, B, AB and O. The genes A and B are both
dominant over the gene O, but A and B are co dominant when both present in the same individual
resulting in blood group AB. The genes for the ABO blood groups are not sex linked. • The ABO
blood groups are named from the antigens that they carry on red blood cells. Multiple Alleles in Blood
Groups
63. 63. knowyourblood.com
64. 64. • A separate blood group classification system in humans is the rhesus or Rh factor, first found in
Rhesus monkeys. • The Rh blood groups are independent to the ABO blood groups. • When the Rh
factor is present, the blood group is Rh+ when it is absent the blood group is Rh.
65. 65. Genetic Pedigrees
66. 66. Huntington’s Disease • A neurological condition caused by the inheritance of a defective gene. •
The death of brain cells leads to the gradual loss of cognitive, physical and emotional function. • There
is no cure. macintoshgeneticdisorders.wikispaces.com
67. 67. H is the gene for Huntington's which is dominant.
68. 68. Cystic Fibrosis • A hereditary disease which affects the entire body, causing progressive disability
and often early death. • a is the affected allele and A not affected
69. 69. Haemophilia • Passed from one generation to the next through the X (female) chromosome. •
Disease in which blood does not clot normally. • Because the blood clots so slowly there is a constant
danger of bleeding to death even with a minor injury.
70. 70. • Women transmit the disease, however, only men exhibit it. • Women who carry haemophilia have
the gene on one of their X chromosomes. • Since the gene is recessive, they do not have the disorder.
71. 71. • If a male has the bad gene they will be a haemophiliac because there is no matching gene on his
Y chromosome to be dominant to it. • Females must have the gene on both X chromosomes to have
haemophilia.
72. 72. Queen Victoria was a carrier of the haemophiliac gene.
73. 73. Genetic Mutations • Colour Blindness • Down Syndrome • Albinism • Cystic fibrosis •
Haemophilia • TaySachs Disease • Turner Syndrome
74. 74. Genetic Modifications • In GM organisms the genetic information has be changed by inserting new
genes. • The new genes are then passed to daughter cells through mitosis. • GM is used to create
desirable traits in organisms such as insect resistance and increased nutrient value.
75. 75. Canola Modification • Western Australia, Victoria and New South Wales all have farmers growing
• Nucleotide – consists of a sugar, phosphate and base. • Gene – a segment of DNA that codes for a protein,
GM canola. • This canola is resistant to herbicides that are commonly used to control weeds. •
Therefore, the farmers can kill the weeds using chemicals and not affect their canola. www.abc.net.au
76. 76. Rice Modifications • White rice is a main food source for half the worlds population, however, it
lacks essential minerals and vitamins (Vitamin A deficiency can lead to blindness in children). •
Golden rice21 is genetically modified using the genes from corn, daffodils and bacteria. The rice
contains betacarotene which the body converts to vitamin A. www.21stcentech.com
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• Organism • Cell • Nucleus • Chromosome • DNA • Gene www.csiro.au
Mitochondria are structures within cells that convert the energy from food into a form that cells can use.
Although most D...
Mitochondrial DNA contains genes that provide instructions for making enzymes involved in oxidative
phosphorylation a pr...
Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick The main people responsible for the
discovery of DNA ar...
Franklin researched Xray crystallography, a method of determining the structure of crystals based on the
use of Xrays. R...
Franklin mostly worked alone because she and Wilkins could not get along. He assumed she was to assist
his work while Fran...
The information Watson and Crick received from Wilkins was crucial to the ultimate discovery of DNA. It
was principally th...
Rosalind Franklin died of cancer in 1958 at the age of 37. In 1962 the Nobel Prize for physiology and
medicine went to Jam...
Chromosomes • The way living things pass on traits – skin tone, eye colour etc. • Chromosomes are formed
of a single DNA m...
Some of our worst diseases result from chromosomes that have failed to function correctly e.g. polycystic
kidney disease, ...
Chromosomes • Humans contain 23 pairs • Chromosomes determine if you are male or female.
Humans have 46 chromosomes – 23 from each parent.
• Two of the 46 chromosomes are called sex chromosomes and the determine the sex of an individual – XX
or XY • The other 4...
• Sex cells – ova and sperm only have half of the number of chromosomes as the rest of the cells in your
body. • Ova – onl...
• Identical twins occur when a fertilised egg divides in two – the babies are genetically the same. • Fraternal
twins occu...
Meiosis • Mitosis is cell division where a cell reproduces by splitting to form two identical offspring. •
Meiosis (reduct...
• The nucleus of normal human body cells consist of 46 chromosomes or 23 pairs of chromosomes (2 of
each chromosome). • Th...
Fertillisation is the fusion of haploid male and female gametes, to form a diploid number of chromosomes in
a zygote.
Meiosis I • Homologous chromosomes pair up. They are called a bivalent. • Nonsister chromatids cross
over at points calle...
https://online.science.psu.edu/biol011_sandbox_7239/node/7288
https://online.science.psu.edu/biol011_sandbox_7239/node/7288
• In prophase I of meiosis I, two things happen that don’t happen in mitosis. • Diploid (2N) cells contain two
copies of e...
• After locating each other, these chromosomes interact and pair in a process called synapsis. • During
synapsis, the cell...
Synapsis https://online.science.psu.edu/biol011_sandbox_7239/node/7288
CrossingOver https://online.science.psu.edu/biol011_sandbox_7239/node/7288
Mitosis • Produces new cells identical to the original cell. • How plants and animals grow and replace dead
and damaged ce...
Binary Fission 1. The bacterium before binary fission is when the DNA is tightly coiled. 2. The DNA of the
bacterium has r...
DNA Replication • DNA Replication is semiconservative. • After DNA replication, each new DNA double
helix molecule contai...
Enzymes Involved in DNA Replication Two enzymes are involved in the process: • Helicase unwinds the
DNA double helix molec...
Ref: IB Biology, OSC
Ref: Biology for the IB Diploma, Allott
DNA and RNA • There are TWO types of Nucleic acids – DNA and RNA • Both consist of chains of
nucleotides, each composed of...
Protein Synthesis • The flow of information for organisms is unidirectional. DNA RNA Protein • There
are two main proc...
learn.genetics.utah.edu
Transcription • DNA RNA. • Process in which the message written in DNA code is transcribed into a
working copy of mRNA (...
Transcription Process The process is: –The RNA polymerase enzymes separate the two strands of DNA. –
One strand of the DNA ...
en.wikipedia.org
Translation • RNA Protein • Process in which a polypeptide chain is built from a codon sequence on the
mRNA molecule. co...
Translation The process is: –The mRNA molecule attaches to a Ribosome. –tRNA molecules bring specific
amino acids to the r...
Ref Biology for the IB Diploma, Allott
• Environmental variation – differences in characteristics caused by surrounds or living conditions. •
Inherited variation...
Gregor Mendel 18221884 • An Austrian monk who worked on his garden at the monastery and noted how
the characteristics of ...
Pea Plants • One of the main variations Mendel noted was that some peas were smooth and some wrinkled. •
When he cross bre...
He then took smooth peas and cross pollinated these plants – he noted that ¾ of the peas were smooth and ¼
wrinkled. mrjoh...
• Mendel realised that the peas had two factors inside of them – one from each parent. • Smooth peas – SS •
Wrinkled peas ...
Punnett Square w w S Sw Sw S Sw Sw When these two peas SS and ww were crossed all of the offspring
were smooth because S i...
Second Generation S w S SS Sw w Sw ww ¼ of offspring were wrinkled.
• Genotype – the type of genes e.g. SS and ww the dominant gene is always written as a capital. • Alleles –
the possible g...
Guinea Pigs • Short fur is dominant (F) and long fur recessive (f). • If a heterozygous guinea pig mated with
a homozygous...
• Brunette hair is dominant and blonde recessive. • Therefore, if the parents genes are homozygous brunette
and blonde all...
Incomplete Dominance • Purebred budgies are yellow and blue birds. • Green budgies result from one parent
with blue feathe...
Polygenic Inheritance • When characteristics are controlled by more than one gene. • Examples of traits
controlled by poly...
• There are four ABO blood groups in humans: A, B, AB and O. The genes A and B are both dominant over
the gene O, but A an...
en.wikipedia.org
en.wikipedia.org
knowyourblood.com
• A separate blood group classification system in humans is the rhesus or Rh factor, first found in Rhesus
monkeys. • The ...
Genetic Pedigrees
Huntington’s Disease • A neurological condition caused by the inheritance of a defective gene. • The death
of brain cells ...
H is the gene for Huntington's which is dominant.
Cystic Fibrosis • A hereditary disease which affects the entire body, causing progressive disability and often
early death...
Haemophilia • Passed from one generation to the next through the X (female) chromosome. • Disease in
which blood does not ...
• Women transmit the disease, however, only men exhibit it. • Women who carry haemophilia have the gene
on one of their X ...
• If a male has the bad gene they will be a haemophiliac because there is no matching gene on his Y
chromosome to be domin...
Queen Victoria was a carrier of the haemophiliac gene.
Genetic Mutations • Colour Blindness • Down Syndrome • Albinism • Cystic fibrosis • Haemophilia • Tay
Sachs Disease • Turn...
Genetic Modifications • In GM organisms the genetic information has be changed by inserting new genes. •
The new genes are...
Canola Modification • Western Australia, Victoria and New South Wales all have farmers growing GM
canola. • This canola is...
Rice Modifications • White rice is a main food source for half the worlds population, however, it lacks
essential minerals...
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Protein Synthesis • The flow of information for organisms is unidirectional. DNA RNA Protein • There

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