• Basic Concepts
• 19 min
  1. Molecular structure of the human genome

  • Prof. Jonathan Wolfe
• 31 min
  2. Introduction to mutation and disease

  • Prof. Jonathan Wolfe
• 26 min
  3. Introduction to genetic diseases

  • Prof. Jonathan Wolfe
• 26 min
  4. Historical introduction to human diversity I

  • Prof. Dallas Swallow
• 28 min
  5. Historical introduction to human diversity II

  • Prof. Dallas Swallow
• 23 min
  6. Introduction to cytogenetics 1

  • Dr. Sioban SenGupta
• 15 min
  7. Introduction to cytogenetics 2

  • Dr. Sioban SenGupta
• 16 min
  8. Introduction to cytogenetics 3

  • Dr. Sioban SenGupta
• 42 min
  9. The Y-chromosome

  • Prof. Mark Jobling
• 42 min
  10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases

  • Prof. Immo Scheffler
• 66 min
  11. Mechanisms of DNA repair by recombination

  • Prof. James Haber
• 26 min
  12. Techniques utilized in molecular genetics

  • Dr. Cecil Lewis
• 36 min
  13. Genome mapping

  • Dr. Simon Gregory
• 35 min
  14. Copy number variation

  • Dr. Ömer Gökçümen
• Genetics and Disease
• 45 min
  15. Genetic association studies

  • Prof. David Balding
• 42 min
  16. Quantitative genetics and multifactorial inheritance

  • Dr. Lara Bauman
• Human Evolutionary Genetics
• 34 min
  17. Population genetics

  • Dr. Murray P. Cox
• 59 min
  18. Inference on human history through DNA

  • Prof. Guido Barbujani
• 37 min
  19. Human adaptation

  • Prof. Rasmus Nielsen
• Specialized Topics
• 44 min
  20. Accessing and using ENCODE data

  • Prof. Peggy Farnham
• 44 min
  21. Pharmacogenetics

  • Prof. Ann Daly
• 33 min
  22. Genetics in forensics

  • Dr. Angel Carracedo
• 29 min
  23. The development and evolution of human gene therapy

  • Prof. Theodore Friedmann
• 33 min
  24. Next generation sequencing technologies

  • Dr. Krishna Veeramah

Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Chromosomes of a human male: 46,XY
3. The Y chromosome is dominantly sex-determining
4. Ovary or testis?
5. Specialized for sex
6. The human sex chromosomes
7. Evolution of the sex chromosomes
8. Pseudoautosomal region 1 (PAR1)
9. XY pairing in pachytene
10. A gradient of recombination in PAR1
11. Pseudoautosomal region 2
12. Sex-chromosomal recombination
13. Identifying the testis-determining factor
14. Translocation XX males and XY females
15. Principle of deletion mapping the TDF interval
16. Sex-determining region Y (SRY)
17. Evidence that SRY is TDF
18. Randy the transgenic mouse
19. The SRY gene and protein
20. The sex-determining pathway downstream of SRY
21. Turner syndrome
22. Turner syndrome (45,X) phenotype
23. Turner syndrome and X-linked genes
24. Turner syndrome - candidate genes
25. XY-homology
26. Y-chromosomal aneuploidies
27. A high mutation rate on the Y
28. The weird genomic landscape of the Y
29. Y-linked inheritance
30. Other Y-associated phenotypes?
31. Y-linked deafness (DFNY1)
32. The human Y carries fertility factors
33. Testis histologies in normal and infertile males
34. Finding AZF candidate genes
35. AZF phenotypes and candidate genes
36. Genomic disorders
37. NAHR in AZFa and AZFc infertility
38. The 'hall of mirrors'
39. Complex structural rearrangements
40. Substrates for gene conversion
41. Gene conversion is biased
42. 'Genetic coherence' of the Y
43. PAR1 shows no 'genetic coherence'
44. A single ancestor for the Y
45. Genome segments and effective population sizes
46. Y haplogroup distribution
47. Applications of Y diversity
48. Thanks

Topics Covered

• Role in sex determination
• Recombination behaviour
• Sex-chromosomal aneuploidies
• Type and number of genes
• Rates and types of mutation
• Associated diseases
• Sequence organization
• Diversity of Y chromosome types in populations

Links

Series:

• Introduction to Human Genetics

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on December 28, 2009
• Archived on September 8, 2024

Financial Disclosures

• Prof. Mark Jobling has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.