1. Review Spermatogenesis, Oogenesis, Crossing Over, Imprinting---A Review

2. Primary germ cells migrate from the yolk sac to the ovaries or testes where they undergo mitosis and become oogonium or spermatogonium or remain germ cells.

3. Spermatogenesis Spermatogenesis, or sperm production, begins around puberty and continues for the remainder of a man's life A young healthy man produces several hundred million sperm per day.

4. Spermatogenesis

8. Oogenesis During embryonic development, diploid cells in the ovaries called oogonia divide by mitosis to produce primary oocytes. The primary oocytes are diploid. Primary oocytes start meiosis. They complete interphase and prophase I. They are “frozen” at the end of prophase I and remain this way until the female reaches puberty. A female is born with about 2 million primary oocytes. By the time she reaches puberty, about 400,000 are left.

9. Oogenesis cont…. After puberty, each month one of the primary oocytes is selected for ovulation (release from the ovary). Just prior to ovulation, the primary oocyte is “unfrozen” and completes meiosis I, forms the first polar body, and is then frozen in meiosis II at metaphase II. After ovulation, if a sperm penetrates the secondary oocyte (egg) after it is released from the ovary, the secondary oocyte will be stimulated to complete meiosis II forming one more polar body and a mature egg. The first polar body formed from meiosis one may also complete meiosis II to form another polar body.

11. Prophase I

13. Fertilization takes place in the fallopian tubes

17. Crossing Over –Genetic Variation

18. Crossing over

19. Actual photograph of crossing over

20. No crossing over during gametogenesis

21. Crossing Over 1. When does this happen in the formation of the egg and sperm? 2. Show the gametes formed using the letters “A” and “B” and “a” and “b”. A a Bb

22. Imprinting

23. Evidence o Uniparental embryos o Uniparental disomy o Differences in maternal and paternal gene function

24. Epigenetics and Disease: Genomic imprinting Parent specific expression or repression of genes or chromosomes in offspring. So… even though two copies of a given gene are inherited, one from each parent, only the maternal or paternal allele is expressed. The non-expressed allele is said to be “imprinted.”

25. Life Cycle of an Imprint

26. Wilms Tumor -Childhood Tumor of the kidney (nephroblastoma) Accounts of 7% of all childhood cancers -Caused by a defect in imprinting of the Insulin-like Growth Factor 2 (IGF2) gene -IGF2 is usually only expressed from the paternal locus, ie maternally imprinted -Defects in imprinting that cause expression of the maternal locus lead to cancer

27. Genomic imprinting and disease: Several diseases are associated with genomic imprinting e.g. Beckwith–Wiedemann syndrome Prader–Willi syndrome Angelman syndrome Wilms Tumor Fragile X syndrome Myotonic dystrophy (congenital)