1. Sexual Reproduction and Meiosis Chapter 11

2. 2 Overview of Meiosis Meiosis is a form of cell division that leads to the production of gametes. gametes: egg cells and sperm cells -contain half the number of chromosomes of an adult body cell Adult body cells (somatic cells) are diploid, containing 2 sets of chromosomes. Gametes are haploid, containing only 1 set of chromosomes.

3. 3 Overview of Meiosis Sexual reproduction includes the fusion of gametes (fertilization) to produce a diploid zygote. Life cycles of sexually reproducing organisms involve the alternation of haploid and diploid stages. Some life cycles include longer diploid phases, some include longer haploid phases.

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8. 8 Features of Meiosis Meiosis includes two rounds of division – meiosis I and meiosis II. During meiosis I, homologous chromosomes (homologues) become closely associated with each other. This is synapsis. Proteins between the homologues hold them in a synaptonemal complex.

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10. 10 Features of Meiosis Crossing over: genetic recombination between non-sister chromatids -physical exchange of regions of the chromatids chiasmata: sites of crossing over The homologues are separated from each other in anaphase I.

11. 11 Features of Meiosis Meiosis involves two successive cell divisions with no replication of genetic material between them. This results in a reduction of the chromosome number from diploid to haploid.

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13. 13 The Process of Meiosis Prophase I: -chromosomes coil tighter -nuclear envelope dissolves -homologues become closely associated in synapsis -crossing over occurs between non-sister chromatids

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16. 16 The Process of Meiosis Metaphase I: -terminal chiasmata hold homologues together following crossing over -microtubules from opposite poles attach to each homologue, not each sister chromatid -homologues are aligned at the metaphase plate side-by-side -the orientation of each pair of homologues on the spindle is random

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20. 20 The Process of Meiosis Anaphase I: -microtubules of the spindle shorten -homologues are separated from each other -sister chromatids remain attached to each other at their centromeres

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22. 22 The Process of Meiosis Telophase I: -nuclear envelopes form around each set of chromosomes -each new nucleus is now haploid -sister chromatids are no longer identical because of crossing over

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24. 24 The Process of Meiosis Meiosis II resembles a mitotic division: -prophase II: nuclear envelopes dissolve and spindle apparatus forms -metaphase II: chromosomes align on metaphase plate -anaphase II: sister chromatids are separated from each other -telophase II: nuclear envelope re-forms; cytokinesis follows

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29. 29 Meiosis vs. Mitosis Meiosis is characterized by 4 features: 1. Synapsis and crossing over 2. Sister chromatids remain joined at their centromeres throughout meiosis I 3. Kinetochores of sister chromatids attach to the same pole in meiosis I 4. DNA replication is suppressed between meiosis I and meiosis II.

30. 30 Meiosis vs. Mitosis Meiosis produces haploid cells that are not identical to each other. Genetic differences in these cells arise from: -crossing over -random alignment of homologues in metaphase I (independent assortment) Mitosis produces 2 cells identical to each other.

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32. Nondisjunction Chromosomes fail to separate Results in gametes and zygote with an abnormal chromosome number Aneuploidy is variations in chromosome number that involve one or more chromosomes Most aneuploidy from errors in meiosis

33. Meiosis: The Creations of Gametes Meiosis 1 Meiosis 2

34. Non-Disjunction During Meiosis Non-disjunction in Meiosis 1Non-disjunction in Meiosis 2

35. Trisomy zygote Monosomy zygote

36. Aneuploidy Effects vary by chromosomal condition Many cause early miscarriages Leading cause of mental retardation

37. 3.3 ID of Chromosomal Abnormalities Two tests: Amniocentesis (> 16 weeks) –Collects amniotic fluid –Fetal cells grown and karyotype produced Chorionic villus sampling (CVS) (10–12 weeks) –Rapidly dividing cells –Karyotype within few days

38. p. 46 Removal of about 20 ml of amniotic fluid containing suspended cells that were sloughed off from the fetus Biochemical analysis of the amniotic fluid after the fetal cells are separated out Centrifugation Fetal cells are removed from the solution Analysis of fetal cells to determine sex Cells are grown in an incubator Karyotype analysis

39. Amniocentesis Only Used in Certain Conditions Risks for miscarriage; typically only done under one of following circumstances: –Mother > 35 –History of child with chromosomal abnormalities –Parent has abnormal chromosomes –Mother carries a X-linked disorder –History of infertility or multiple miscarriages

40. Chorionic Villus Sampling (CVS)

41. Karyotype

42. Animation: Chromosomes and Human Inheritance (karyotype preparation)

43. Non-Invasive Prenatal Diagnosis In 1997 it was determined the “cell-free” fetal DNA is found in maternal plasma Has been used to determine the sex and blood group of the fetus Harder to detect fetal chromosomal aneuploidies, because fetal DNA is only 3% of cell-free DNA in maternal plasma

44. Other Chromosomal Variations Haploid: one copy of each chromosome Diploid: normal two copies of each chromosome Polyploidy: multiple sets of chromosomes Aneuploid: A variation in chromosome number, but not involving all of the chromosomes Trisomy: three copies of one chromosome Monosomy: only one copy of a chromosome Structural changes: duplication, deletion, inversion, translocation

45. Duplication

46. Deletion

47. Karyotype of Deletion on Chromosome 16

48. Inversion

49. Translocation

50. Translocation Karyotype

51. 3.4 Effects of Changes in Chromosomes Vary by chromosome and type of variation May cause birth defects or fetal death Monosomy of any autosome is fatal Only a few trisomies result in live births

52. Patau Syndrome

53. Trisomy 13: Patau Syndrome (47,+13) 1/15,000 Survival: 1–2 months Facial, eye, finger, toe, brain, heart, and nervous system malformations

54. Edwards Syndrome

55. Trisomy 18: Edwards Syndrome (47,+18) 1/11,000, 80% females Survival: 2–4 months Small, mental disabilities, clenched fists, heart, finger, and foot malformations Die from heart failure or pneumonia

56. Down Syndrome

57. Trisomy 21: Down Syndrome (47,+21) 1/800 (changes with age of mother) Survival up to age 50 Leading cause of childhood mental retardation and heart defects Wide, flat skulls; large tongues; physical, mental, development retardation

58. Maternal Age and Down Syndrome

59. Aneuploidy and Sex Chromosomes More common than in autosomes Turner syndrome (45,X): monosomy of X chromosome Klinefelter syndrome (47,XXY) Jacobs syndrome (47,XYY)

60. Turner Syndrome

61. Turner Syndrome (45,X) Survival to adulthood Female, short, wide-chested, undeveloped ovaries, possible narrowing of aorta Normal intelligence 1/10,000 female births, 95–99% of 45,X conceptions die before birth

62. Klinefelter Syndrome

63. Klinefelter Syndrome (47,XXY) Survival to adulthood Features do not develop until puberty, usually sterile, may have learning disabilities 1/1,000 males

64. XYY Syndrome

65. XYY or Jacobs Syndrome (47,XYY) Survival to adulthood Average height, thin, personality disorders, some form of mental disabilities, and adolescent acne Some may have very mild symptoms 1/1,000 male births

66. 3.5 Ways to Evaluate Risks Genetic counselors are part of the health care team They assist understanding of: –Risks –Diagnosis –Progression –Possible treatments –Management of disorder –Possible recurrence

67. Counseling Recommendations (1) Pregnant women or those who are planning pregnancy, after age 35 Couples with a child with: –Mental retardation –A genetic disorder –A birth defect

68. Counseling Recommendations (2) Couples from certain ethnic groups Couples that are closely related Individuals with jobs, lifestyles, or medical history that may pose a risk to a pregnancy Women who have had two or more miscarriages or babies who died in infancy

69. Genetic Counseling Most see a genetic counselor: –After a prenatal test; –After the birth of a child; or –To determine their risk Counselor –Constructs a detailed family history and pedigree –Shares information that allows an individual or a couple to make informed decisions

70. Future of Genetic Counseling Human Genome Project (HGP) changed medical care and genetic testing Genetic counselor will become more important Evaluate reproductive risks and other conditions Allow at-risk individuals to make informed choices about lifestyle, children, and medical care