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- Introduction
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1. Gene structure, expression and regulation: DNA structure and replication
- Dr. Carole Sargent
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3. Non-Mendelian genetics: the X chromosome
- Dr. Carole Sargent
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4. Genomics 101: an introduction to sequencing
- Dr. Giles Yeo
- Human Genetic Disorders
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5. Mechanisms of human genetic disease
- Prof. Eamonn Maher
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6. Chromosome disorders: chromosomes intro and tool-kit
- Dr. Simon Holden
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7. Chromosome disorders: the body of chromosomes
- Dr. Simon Holden
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8. Autosomal dominant inheritance
- Dr. Simon Holden
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9. Autosomal recessive inheritance
- Dr. Simon Holden
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10. Mitochondria in health and disease
- Prof. Eamonn Maher
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11. Microsatellite and trinucleotide repeat expansion diseases
- Prof. David C. Rubinsztein
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12. Mosaicism
- Prof. Eamonn Maher
- Genetic Counselling
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13. Genetic testing: prediction vs. risk
- Dr. Giles Yeo
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14. Challenges in genetic testing
- Dr. Heather Hanson Pierce
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15. Social and ethical issues in genetic counselling
- Prof. Emerita Shirley Hodgson
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16. Taking, drawing, and using a family tree
- Dr. Heather Hanson Pierce
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17. Complex genetic testing case studies
- Prof. Emerita Shirley Hodgson
- Genetic and Cancer
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18. Why does pain exist, how does it work, what can go wrong and how is it treated?
- Dr. Ewan St. John Smith
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19. Information resources in clinical genetics
- Dr. Robert Legg
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20. A primer on familial cancer genetics
- Dr. Marc Tischkowitz
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21. Inherited cancer case studies
- Prof. Emerita Shirley Hodgson
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22. Cancer risk stratification: the role of polygenic risk scores
- Prof. Paul Pharoah
Printable Handouts
Navigable Slide Index
- Introduction
- Mendelian genetics – a recap
- Mendelian genetics
- Mendel's observations
- Punnett square method
- Genes, chromosomes and the X
- Sex limited traits
- T.H Morgan’s classic experiment
- The human sex chromosomes
- Sex chromosomes in humans
- Aneuploidies
- X chromosome aneuploidy in the female
- X chromosome aneuploidy in the male
- Summary of sex chromosome aneuploidy (SCA)
- The aneuploidies show
- Why is SCA tolerated in humans?
- Adjusting the dose
- The problem with the seX chromosomes
- Evidence for X-inactivation
- Mary Lyon’s experimentation
- Evidence for X-inactivation
- Keeping it under control
- Mapping XIC and the discovery of the X inactive specific transcript (XIST)
- The X inactivation center contains multiple co-regulated loci
- Mechanisms elucidated from mouse embryo and mouse stem cell studies establish Xi model
- Humans are different
- Human XIST is complemented by XACT (X active specific transcript from Xq23)
- Propagation is clonal
- What defines the X?
- Gene content: sequence of human X chromosome, Nature, 2005
- Warning! The inactive X is not completely silent
- Implications of disease
- Pattern of inactivation in male and female embryos
- Recessive X-linked disorders: pedigree structure holds the clues
- Recessive X linked disorders
- Contiguous gene deletion syndromes
- X-linked recessive loci with balanced translocation in females
- X linked dominant traits
- Dominant X linked disorders
- Dominant X linked disorders; male lethal
- Examples of male lethal conditions
- Disease classes connect back to Mary Lyon’s observations
- Summary
- Thank you
Topics Covered
- Non-mendelian genetics
- X linked disorders
- Sex chromosome disorders
Talk Citation
Sargent, C. (2021, June 29). Non-Mendelian genetics: the X chromosome [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved May 9, 2025, from https://doi.org/10.69645/ZUKK3944.Export Citation (RIS)
Publication History
- Published on June 29, 2021
Financial Disclosures
- Dr. Carole Sargent 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
Hello, My name is Dr. Carole Sargent.
I'm a member of the University of Cambridge, Department of Pathology.
My background includes genome analysis on the
human sex chromosomes, and sequencing of the pig X and Y chromosomes.
Today we're going to think about why the X chromosome behaves differently in terms of
its genetics, and the impact that X chromosome inactivation has on disease outcomes.
0:31
Before we consider the X chromosome,
it's useful to recap on the principles of Mendelian genetics.
0:40
Mendel's experiments with pea plants used statistics to
analyse the phenotypic outcomes in the offspring of crosses.
His crosses used true-breeding plants,
which were selected for easily-scorable phenotypes.
In this example, we'll consider pea colour.
In his first generation,
only one of the traits was observed in the offspring.
All the peas were yellow.
If the plants from the F1 generation were crossed with each other,
the second (or F2) generation showed one in four plants produced
green peas, and the rest produced yellow.
Important observations were that it doesn't matter
which parent is green and which parent is yellow.
He also concluded that the green phenotype is recessive to the yellow phenotype.
The ratios are achieved in the offspring of the F2 generation,
assuming that the adults have two copies of the gene for the trait.