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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 CentreGenetics and Genomics for Healthcare Mitosis and Meiosis This

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Page 1: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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

Page 2: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

What is the purpose of mitosis?

Cell division

Products genetically identical

Growth of organism

Page 3: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Page 4: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 2.6 ©Scion Publishing Ltd

The stages of mitosis

See next slides for individual stages

Page 5: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Page 8: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Page 9: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Meiosis• Function

Reduction division (23 chromosomes per gamete) reassortment of genes by:

• crossing-over• independent segregation of chromosomes

• MechanismEach 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

Page 10: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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

Page 11: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Each spermatogonium in the testis at age 15 is the result of 30 previous cell divisions

This spermatogoniummaintains the stock ofspermatogonia andcontinues to divide

Four spermatozoa

Every 16 daysfrom 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

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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 spermatocy

te

SG

SG

SG

SC SC

secondary spermatocyte

s

MEIOSIS IISC

4 spermatids

differentiation

MITOSIS

SG

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

22 mitotic cell divisions by 5 months gestation to make a stock of2,600,000 oocytes

Each month one is ovulated

MEIOSIS I completed at ovulation

Polar body

Meiosis II completed atfertilisation

2nd polar body Zygote

The number of cell divisions required to produce a human egg cell

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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 ovulationPolar body

Meiosis II not completed untilfertilisation

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.

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

Page 22: © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare  Mitosis and Meiosis This

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

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Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Normal monosomic gametes

Normal meiosisReduction division

MEIOSIS I

MEIOSIS II

Results of crossing-over not shown

Replicate DNA

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Genetics and Genomics for Healthcarewww.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

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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

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© 2009 NHS National Genetics Education and Development Centre

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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

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Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

New mutations: increase with paternal age

0

1

2

3

4

5

24 29 34 39 44 47

Paternal age

Rela

tive

fre

quency

Marfan

Achondroplasia

Higher mutation rates in males are likely to be related to the greater number of germ cell divisions

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Meiosis

Animation from Tokyo Medical UniversityGenetics Study Group Hironao NUMABE, M.D

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Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Non-disjunction in meiosis I resulting in trisomy 21 Down syndrome

Animation from Tokyo Medical UniversityGenetics Study Group Hironao NUMABE, M.D

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© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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

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Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

MeioticNon-disjunction

(Trisomy 21: 75% meiosis 1)

Trisomy Monosomy (lethal)