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© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Mitosis and Meiosis
This PowerPoint file contains a number of slides that may be useful for teaching of
genetics concepts.
You may use these slides and their contents for non-commercial educational purposes.
This presentation contains diagrams of:
• Mitosis
• Meiosis
• Meiotic non-disjunction
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
What is the purpose of mitosis?
Cell division
Products genetically identical
Growth of organism
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.6 ©Scion Publishing Ltd
The stages of mitosis
See next slides for
individual stages
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Meiosis
• Function
Reduction division (23 chromosomes per gamete) reassortment of genes by:
• crossing-over
• independent segregation of chromosomes
• Mechanism
Each homologue (e.g. “chromosome 7”) replicates to give two sister chromatids
Homologues pair (e.g. maternal chromosome 7 and paternal chromosome 7)
Exchange of material between non-sister chromatids: crossing-over, recombination
Chiasmata (visible cytologically) are the physical manifestations of crossing-over
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
A homologous pair of parental
chromosomes (e.g.
chromosome 7)
In meiosis I each chromosome duplicates producing two
sister chromatids
Crossing-over
(Recombination)
Gene re-assortment by
crossing-over
meiosis II
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Each spermatogonium in the testis at age 15
is the result of 30 previous cell divisions
This spermatogonium
maintains the stock of
spermatogonia and
continues to divide
Four spermatozoa
Every 16 days
from puberty
At the age of 25:
310 cell divisions have had to
occur to produce a particular
sperm.
The number of cell divisions required to produce a human sperm
Four spermatozoa
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
MEIOSIS I
Each spermatogonium in testis at age 15 is result of 30 previous mitotic cell divisions
Pool of spermatogonia
maintained and continues
to divide
4 spermatozoa
(Every 16 days from puberty)
At the age of 25:
310 cell divisions have had to occur to
produce a particular sperm.
The number of cell divisions required to produce a human sperm
primary
spermatocyte
SG
SG
SG
SC SC
secondary
spermatocytes
MEIOSIS II
SC
4 spermatids
differentiation
MITOSIS
SG
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
22 mitotic cell divisions by 5 months gestation to make a stock of
2,600,000 oocytes
Each month one is ovulated
MEIOSIS I completed at ovulation
Polar body
Meiosis II completed at
fertilisation
2nd polar body Zygote
The number of cell divisions required to produce a human egg cell
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
The stock of oocytes is ready by 5 months gestation. Each
remains in maturation arrest at the crossing-over stage
until ovulation
Each month one is ovulated
Meiosis I not
completed until
ovulation
Polar body
Meiosis II not completed until
fertilisation
2nd polar body Zygote
Oocytes, time and the completion of meiosis
There may be a lengthy interval
between onset and completion
of meiosis (up to 50 years later)
Accumulating effects on the
primary oocyte during this
phase may damage the cell’s
spindle formation and repair
mechanisms predisposing to
non-disjunction.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.7 ©Scion Publishing Ltd
The stages of meiosis.
Meiosis is used only for the
production of sperm and eggs.
It consists of two successive cell
divisions, producing four
daughter cells (although in
oogenesis only one of these
develops into a mature oocyte;
the others form the polar
bodies).
Meiosis has two main functions:
to reduce the chromosome
number in the gamete to 23, and
to ensure that every gamete is
genetically unique.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.8 © Scion Publishing Ltd
Examples of chromosomes
during meiosis.
(a) Two cells from a testicular biopsy
showing chromosomes during
prophase I of male meiosis. Each
of the 23 structures is a bivalent,
consisting of two homologous
chromosomes, each having two
chromatids. Note the end-to-end
pairing of the X and Y
chromosomes.
(b) A bivalent seen in meiosis in an
amphibian, which has large
chromosomes that make the four-
stranded structure clear.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.12 © Scion Publishing Ltd
The effects of
non-disjunction in
meiosis.
The non-disjunction
involves only the single
pair of chromosomes
(meiosis I) or the single
chromosome (meiosis II)
shown; all the other
chromosomes (not
shown) disjoin and
segregate normally.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.17 ©Scion Publishing Ltd
Possible ways the
chromosomes could segregate
in the first meiotic division.
During prophase 1, matching
chromosome segments pair,
resulting in a cross-shaped
tetravalent containing the normal
and translocated copies of
chromosomes 1 and 22.
At anaphase 1 they pull apart, and
the diagram shows various ways this
could happen.
The gamete that gave rise to Baby
Elliot is circled. Other more complex
segregation patterns (3:1
segregation) are also possible.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 2.21 ©Scion Publishing Ltd
During meiosis I matching
chromosome segments
pair. If one chromosome
has an inversion compared
to its homolog, they
usually form a looped
structure.
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Normal monosomic gametes
Normal meiosis
Reduction division
MEIOSIS I
MEIOSIS II
Results of crossing-over
not shown
Replicate DNA
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
MEIOSIS I
MEIOSIS II
Results of crossing-over
not shown
Replicate DNA Nondisjunction
during meiosis I
Non-disjunction
Disomic gametes Nullisomic gametes
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
MEIOSIS I
MEIOSIS II
Results of crossing-over
not shown
Replicate DNA Nondisjunction
during meiosis II
Non-disjunction
Disomic Nullisomic Monosomic Monosomic gametes
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Parental origin of meiotic error
leading to aneuploidy
Chromosome abnormality Paternal (%) Maternal (%)
Trisomy 21 (Down) 15 85
Trisomy 18 (Edwards) 10 90
Trisomy 13 (Patau) 15 85
45,X (Turner) 80 20
47,XXX 5 95
47,XXY 45 55
47,XYY 100 0
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
New mutations: increase with paternal age
0
1
2
3
4
5
24 29 34 39 44 47
Paternal age
Relative
frequency
Marfan
Achondroplasia
Higher mutation rates in males are likely to be related to the greater number of germ cell
divisions
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Meiosis
Animation from Tokyo Medical University
Genetics Study Group Hironao NUMABE, M.D
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Non-disjunction in meiosis I resulting in trisomy 21
Down syndrome
Animation from Tokyo Medical University
Genetics Study Group Hironao NUMABE, M.D
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Normal disomy
Mitosis
Non-disjunction
Normal disomy Trisomy Monosomy (lethal to cell)
Somatic mosaicism (eg trisomy 21) as a result of mitotic
non-disjunction
© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Meiotic
Non-disjunction
(Trisomy 21:
75% meiosis 1)
Trisomy Monosomy (lethal)

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cytology-mitosis-and-meiosis.pptx

  • 1. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Mitosis and Meiosis This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts. You may use these slides and their contents for non-commercial educational purposes. This presentation contains diagrams of: • Mitosis • Meiosis • Meiotic non-disjunction
  • 2. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk What is the purpose of mitosis? Cell division Products genetically identical Growth of organism
  • 3. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 4. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.6 ©Scion Publishing Ltd The stages of mitosis See next slides for individual stages
  • 5. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 6. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 7. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 8. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 9. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Meiosis • Function Reduction division (23 chromosomes per gamete) reassortment of genes by: • crossing-over • independent segregation of chromosomes • Mechanism Each homologue (e.g. “chromosome 7”) replicates to give two sister chromatids Homologues pair (e.g. maternal chromosome 7 and paternal chromosome 7) Exchange of material between non-sister chromatids: crossing-over, recombination Chiasmata (visible cytologically) are the physical manifestations of crossing-over
  • 10. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk A homologous pair of parental chromosomes (e.g. chromosome 7) In meiosis I each chromosome duplicates producing two sister chromatids Crossing-over (Recombination) Gene re-assortment by crossing-over meiosis II
  • 11. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Each spermatogonium in the testis at age 15 is the result of 30 previous cell divisions This spermatogonium maintains the stock of spermatogonia and continues to divide Four spermatozoa Every 16 days from puberty At the age of 25: 310 cell divisions have had to occur to produce a particular sperm. The number of cell divisions required to produce a human sperm Four spermatozoa
  • 12. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk MEIOSIS I Each spermatogonium in testis at age 15 is result of 30 previous mitotic cell divisions Pool of spermatogonia maintained and continues to divide 4 spermatozoa (Every 16 days from puberty) At the age of 25: 310 cell divisions have had to occur to produce a particular sperm. The number of cell divisions required to produce a human sperm primary spermatocyte SG SG SG SC SC secondary spermatocytes MEIOSIS II SC 4 spermatids differentiation MITOSIS SG
  • 13. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk 22 mitotic cell divisions by 5 months gestation to make a stock of 2,600,000 oocytes Each month one is ovulated MEIOSIS I completed at ovulation Polar body Meiosis II completed at fertilisation 2nd polar body Zygote The number of cell divisions required to produce a human egg cell
  • 14. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk The stock of oocytes is ready by 5 months gestation. Each remains in maturation arrest at the crossing-over stage until ovulation Each month one is ovulated Meiosis I not completed until ovulation Polar body Meiosis II not completed until fertilisation 2nd polar body Zygote Oocytes, time and the completion of meiosis There may be a lengthy interval between onset and completion of meiosis (up to 50 years later) Accumulating effects on the primary oocyte during this phase may damage the cell’s spindle formation and repair mechanisms predisposing to non-disjunction.
  • 15. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 16. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.7 ©Scion Publishing Ltd The stages of meiosis. Meiosis is used only for the production of sperm and eggs. It consists of two successive cell divisions, producing four daughter cells (although in oogenesis only one of these develops into a mature oocyte; the others form the polar bodies). Meiosis has two main functions: to reduce the chromosome number in the gamete to 23, and to ensure that every gamete is genetically unique.
  • 17. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 18. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 19. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.8 © Scion Publishing Ltd Examples of chromosomes during meiosis. (a) Two cells from a testicular biopsy showing chromosomes during prophase I of male meiosis. Each of the 23 structures is a bivalent, consisting of two homologous chromosomes, each having two chromatids. Note the end-to-end pairing of the X and Y chromosomes. (b) A bivalent seen in meiosis in an amphibian, which has large chromosomes that make the four- stranded structure clear.
  • 20. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.12 © Scion Publishing Ltd The effects of non-disjunction in meiosis. The non-disjunction involves only the single pair of chromosomes (meiosis I) or the single chromosome (meiosis II) shown; all the other chromosomes (not shown) disjoin and segregate normally.
  • 21. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.17 ©Scion Publishing Ltd Possible ways the chromosomes could segregate in the first meiotic division. During prophase 1, matching chromosome segments pair, resulting in a cross-shaped tetravalent containing the normal and translocated copies of chromosomes 1 and 22. At anaphase 1 they pull apart, and the diagram shows various ways this could happen. The gamete that gave rise to Baby Elliot is circled. Other more complex segregation patterns (3:1 segregation) are also possible.
  • 22. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.21 ©Scion Publishing Ltd During meiosis I matching chromosome segments pair. If one chromosome has an inversion compared to its homolog, they usually form a looped structure.
  • 23. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk
  • 24. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Normal monosomic gametes Normal meiosis Reduction division MEIOSIS I MEIOSIS II Results of crossing-over not shown Replicate DNA
  • 25. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk MEIOSIS I MEIOSIS II Results of crossing-over not shown Replicate DNA Nondisjunction during meiosis I Non-disjunction Disomic gametes Nullisomic gametes
  • 26. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk MEIOSIS I MEIOSIS II Results of crossing-over not shown Replicate DNA Nondisjunction during meiosis II Non-disjunction Disomic Nullisomic Monosomic Monosomic gametes
  • 27. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Parental origin of meiotic error leading to aneuploidy Chromosome abnormality Paternal (%) Maternal (%) Trisomy 21 (Down) 15 85 Trisomy 18 (Edwards) 10 90 Trisomy 13 (Patau) 15 85 45,X (Turner) 80 20 47,XXX 5 95 47,XXY 45 55 47,XYY 100 0
  • 28. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk New mutations: increase with paternal age 0 1 2 3 4 5 24 29 34 39 44 47 Paternal age Relative frequency Marfan Achondroplasia Higher mutation rates in males are likely to be related to the greater number of germ cell divisions
  • 29. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Meiosis Animation from Tokyo Medical University Genetics Study Group Hironao NUMABE, M.D
  • 30. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Non-disjunction in meiosis I resulting in trisomy 21 Down syndrome Animation from Tokyo Medical University Genetics Study Group Hironao NUMABE, M.D
  • 31. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Normal disomy Mitosis Non-disjunction Normal disomy Trisomy Monosomy (lethal to cell) Somatic mosaicism (eg trisomy 21) as a result of mitotic non-disjunction
  • 32. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Meiotic Non-disjunction (Trisomy 21: 75% meiosis 1) Trisomy Monosomy (lethal)