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- Genetics of Developmental Disorders
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1. Imprinting disorders associated with molecular changes on chromosome 11p15
- Prof. Rosanna Weksberg
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2. Chromatin genes and disease
- Prof. Richard Gibbons
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3. Heterochromatin, epigenetics and gene expression
- Prof. Joel C. Eissenberg
- Cardiopulmonary Disease
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4. Transcription factors and complex disease development
- Dr. Ines Pineda-Torra
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5. Molecular genetics of pulmonary arterial hypertension
- Prof. Richard C. Trembath
- Neuromuscular System Diseases
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6. Gene therapy for the muscular dystrophies
- Prof. Jeff Chamberlain
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7. RAS pathway and disease: neurofibromatosis and beyond
- Prof. Eric Legius
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8. Congenital syndromes of pain and painlessness
- Prof. Geoff Woods
- Prof. James Cox
- Endocrinology and Metabolism
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9. Changing lives: stratified medicine in monogenic diabetes
- Prof. Andrew Hattersley
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10. Genetics of monogenic obesity 1
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
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11. Genetics of monogenic obesity 2
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
- Cancer Genetics
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13. Inherited predisposition to breast cancer
- Prof. Diana Eccles
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14. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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16. NF2-related Schwannomatosis and Gorlin Syndrome
- Prof. D. Gareth R. Evans
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17. The genetic basis of kidney cancer
- Dr. W. Marston Linehan
- Oligogenic and Complex Diseases
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18. Ciliopathies and oligogenic phenomena
- Prof. Nicholas Katsanis
- Therapy
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19. Mismatch repair deficient cancers & Lynch syndrome
- Prof. Sir John Burn
- Archived Lectures *These may not cover the latest advances in the field
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20. Mismatch repair deficient cancers: diagnosis, treatment and prevention
- Prof. Sir John Burn
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21. NF2 & Gorlins
- Prof. D. Gareth R. Evans
Printable Handouts
Navigable Slide Index
- Introduction
- What is epigenetics?
- Genetically identical, phenotypically different
- X-inactivation
- Phenotypic variability in genetically identical mice
- Genetically identical cells have different properties
- Phenotypes reflect patterns of gene expression
- Basis for different expression patterns of genes
- Role of chromatin in epigenetic regulation
- DNA is highly condensed & packed in chromatin
- What factors have a role in epigenetic regulation?
- Influence of chromatin on gene expression
- Gene screen of factors that influence epigenetics
- Epigenetic factors - overview
- How are genes activated during development?
- How genes are activated: silent to active chromatin
- Epigenetic program
- Role of transcription factors
- Chromatin remodelling process
- Chromatin looping and RNA pol. recruitment
- Epigenetic factors - histone modifications
- The histone code
- Effector molecules read the histone code
- Analysing the histone code
- Different histone modifications
- Epigenetic marks dependent on RNA moiety
- Order of events in X-inactivation
- Epigenetic marks are passed on to daughter cell
- Cross talk between methylation & histone code
- Diseases of chromatin
- Sotos syndrome
- Weaver syndrome
- Wolf-Hirschhorn syndrome
- Kleefstra/9q23del syndrome
- XLMR+/- spasticity
- Kabuki syndrome
- Schinzel-Giedion syndrome
- Rubinstein-Taybi syndrome
- Genitopatellar syndrome
- Say-Barber-Biesecker-Young-Simpson syndrome
- Brachydactyly-mental retardation syndrome
- Syndromal XLMR
- Coffin-Lowry syndrome
- Diseases involving histone code writers & erasers
- Epigenetic factors - chromatin remodelling factors
- What is chromatin remodelling?
- Chromatin remodelling
- Ways for chromatin remodelling
- A lookback at the chromatin remodelling process
- Role of the remodelling factors in transcription
- Diseases involving chromatin remodelling factors
- Schimke immuno-osseus dysplasia
- Cockayne syndrome B
- CHARGE syndrome
- Floating-Harbor syndrome
- Coffin-Siris syndrome
- Nicolaides-Baraitser syndrome
- ATR-X syndrome
- Summary
- Thank you
Topics Covered
- Chromatin genes and disease
- Epigenetics: the phenotype reflects the pattern of gene expression
- The role of chromatin in epigenetic regulation
- Epigenetic factors and their role in gene expression
- Human diseases involving epigenetic factors
Links
Series:
Categories:
Talk Citation
Gibbons, R. (2014, September 3). Chromatin genes and disease [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/DSRG3747.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Richard Gibbons has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:00
This talk is
on chromatin genes and disease.
And my name is Richard Gibbons.
And I'm a clinical geneticist
and molecular biologist working
in the MRC molecular
hematology unit,
and the Weatherall Institute
of Molecular Medicine, which
is part of the University of Oxford.
My particular interests are
in how genes are regulated.
That's how they're
turned on and off.
And in the field of epigenetics.
0:27
So what does this term mean?
It accounts for differences in
the phenotype type of cells,
or organisms that are
genetically identical.
It's involved in alterations
in gene expression.
And also, the important thing is,
this pattern of gene expression
is maintained on cell division.
0:47
For instance, these different
organisms here, the caterpillar,
the chrysalis, and the butterfly,
are genetically identical.
But they're
phenotypically different.
0:59
Here we see a tortoiseshell cat.
And the different coat color it
has, the orange and black stripes,
are from cells that are
genetically identical,
but they produce the
different colors.
And this is because the coat color
genes are on the X chromosome,
although this female
has two X chromosomes.
And in any one cell, any
one of those Xs is active.
It's called X inactivation.
So if the paternal X encodes for the
black color, and maternal X encodes
for the orange color, in any one
cell, only one will be active.
And the progeny of those cells
will have the same pattern.
So you give rise to this
mosaic pattern of coloring,
depending on which X is active.
But the important thing is,
those cells are genetically
identical, but
epigenetically different.