1. Chapter 15 Chromosomal basis for inheritance

2. Mendel Genetics Mendel published his work in 1866 1900 his work was rediscovered. Parallels between Mendel’s factors & chromosome behavior

3. Figure 15.1

4. Mendel’s Genetics 1902 Walter Sutton Chromosomal theory of inheritance Genes are located on chromosomes Located at specific loci (positions) Behavior of chromosomes during meiosis account for inheritance patterns

5. Fig. 15-2 P Generation Yellow-round seeds (YYRR) Y F 1 Generation Y R R R Y  r r r y y y Meiosis Fertilization Gametes Green-wrinkled seeds ( yyrr) All F 1 plants produce yellow-round seeds ( YyRr ) R R Y Y r r y y Meiosis R R Y Y r r y y Metaphase I Y Y RR r r y y Anaphase I r r y Y Metaphase II R Y R y y y y R R Y Y r r r r y Y Y R R yR Yr yr YR 1/41/4 1/41/4 1/41/4 1/41/4 F 2 Generation Gametes An F 1  F 1 cross-fertilization 9 : 3 : 1 LAW OF INDEPENDENT ASSORTMENT Alleles of genes on nonhomologous chromosomes assort independently during gamete formation. LAW OF SEGREGATION The two alleles for each gene separate during gamete formation. 1 2 3 3 2 1

6. Thomas Morgan studied fruit flies Drosophila melanogaster Proved chromosomal theory correct Studied eye color Red is dominant, white is recessive Crossed a homozygous dominant female with a homozygous recessive male Fruit fly

7. Wild type (w +)

8. Mutant (w)

9. Fruit fly F 1 offspring were all red eyed F 2 classic 3:1 ratio red:white phenotypes Showed the alleles segregate Supported the Chromosomal theory BUT only males were white eyed All females were red eyed or wild type

10. Fig. 15-4 P Generation F1F1 F2F2 All offspring had red eyes Sperm Eggs F1F1 F2F2 P Sperm Eggs   X X X Y CONCLUSION EXPERIMENT RESULTS w w w w w w w w + + + ++ w w ww w w w w w + + + + + +

11. Fruit fly Eye color gene is on the X- chromosomes Sex-linked genes: Genes found on the sex chromosomes X-chromosome has more genes than Y-chromosome Most sex-linked genes are on the X- chromosome

16. Human Males Y chromosome is very condensed 78 genes Male characteristics Sperm production & fertility

17. Males SRY is a gene on the Y chromosome Sex determining region of Y Present gonads develop into testes Determines development of male secondary sex characteristics Not present then individual develops ovaries

18. Females X chromosome has 1000 genes One of the 2 X chromosomes is inactivated Soon after embryonic development Choice is random from cell to cell Female is heterozygous for a trait Some cells will have one allele Some cell have the other

19. Females Barr body: Condensed inactive X chromosome Stains dark

20. Fig. 15-8 X chromosomes Early embryo: Allele for orange fur Allele for black fur Cell division and X chromosome inactivation Two cell populations in adult cat: Active X Inactive X Black furOrange fur

21. Sex-linked Mom passes gene on the X- chromosome to the son Males have one X-chromosome Recessive gene is expressed Recessive alleles on the X are present No counter alleles on the Y

22. Sex-linked disorders Mom passes sex-linked to sons & daughters Dad passes only to daughters

23. Sex-linked disorders Sex-linked genetic defects Hemophilia 1/10,000 Caucasian males

24. Sex-linked disorders Colored blindness Red-green blindness Mostly males Heterozygous females can have some defects

26. Sex-linked disorders Duchenne muscular dystrophy Almost all cases are male Child born healthy Muscles become weakened Break down of the myelin sheath in nerve stimulating muscles Wheelchair by 12 years old Death by 20

27. Linked genes Genes located on same chromosome Genes are inherited together Do not assort independently Differs from Mendel’s law of independent assortment

28. Independent assortment

29. Dihybrid testcross 50% phenotypes similar to parents Parental types 50% phenotypes not similar to parents Recombinant types Indicates unlinked genes Mendel’s independent assortment

30. Figure 15.UN02 Gametes from yellow-round dihybrid parent (YyRr) Gametes from testcross homozygous recessive parent (yyrr) Parental- type offspring Recombinant offspring yyRr YyRr Yyrryyrr YR yr Yr yR yr

31. Linked genes Test cross fruit flies Wild-type (dihybrid) Gray bodies and long wings Mutants (homozygous) Black bodies and short wings (vestigial) Results not consistent with genes being on separate chromosomes

32. Figure 15.9 Experiment Results P Generation (homozygous) Wild type (gray body, normal wings) Double mutant (black body, vestigial wings) F 1 dihybrid testcross Wild-type F 1 dihybrid (gray body, normal wings) Homozygous recessive (black body, vestigial wings) Testcross offspring Eggs Sperm Wild type (gray-normal) Black- vestigial Gray- vestigial Black- normal b + vg + b vgb + vgb vg + b vg b + b vg + vg b b vg vgb + b vg vgb b vg + vg b + b + vg + vg + b + b vg + vg b b vg vg PREDICTED RATIOS Genes on different chromosomes: Genes on the same chromosome: 1 : 1 : 1 : 1 1 : 1 : 0 : 0 965 : 944 : 206 : 185

33. Linked genes More parental phenotypes Than if on separate chromosomes Greater than 50% Gray body normal wings or black body vestigial Non-parental phenotype 17% Gray-vestigial or black-normal wings Indicating crossing over

34. Figure 15.UN01 Most offspring F 1 dihybrid female and homozygous recessive male in testcross or b + vg + b vg

35. Fig. 15-10 Testcross parents Replication of chromo- somes Gray body, normal wings (F 1 dihybrid) Black body, vestigial wings (double mutant) Replication of chromo- somes b + vg + b vg b + vg + b + vg b vg + b vg Recombinant chromosomes Meiosis I and II Meiosis I Meiosis II b vg + b + vg b vg b + vg + Eggs Testcross offspring 965 Wild type (gray-normal) 944 Black- vestigial 206 Gray- vestigial 185 Black- normal b + vg + b vg b + vg b vg b vg + Sperm b vg Parental-type offspringRecombinant offspring Recombination frequency = 391 recombinants 2,300 total offspring  100 = 17%

36. Genetic recombination: New combination of genes 2 genes that are farther apart tend to cross over more 2 genes on the same chromosome can show independent assortment Due to regularly crossing over

37. Genetic map Ordered list of gene loci Linkage map: Genetic map based on recombination frequencies Distance between genes in terms of frequency of crossing over Higher percentage of crossing over the further apart the genes are Centimorgan (Thomas Hunt Morgan) A map unit

38. Figure 15.11 Chromosome Results Recombination frequencies 9% 9.5% 17% b cn vg

39. Figure 15.12 Mutant phenotypes Wild-type phenotypes Short aristae Maroon eyes Black body Cinnabar eyes Vestigial wings Down- curved wings Brown eyes Long aristae (appendages on head) Red eyes Gray body Red eyes Normal wings Red eyes 0 16.5 48.5 57.5 67.0 75.5 104.5

42. Alterations in chromosomes Chromosome number Chromosome structure Serious human disorders

43. Alterations in numbers Nondisjunction Failure of homologues or sister chromatids to separate properly Aneuploidy: Gain or a loss of chromosomes due to nondisjunction Abnormal number of chromosomes Occurs about 5% of the time with humans

44. Nondisjunction

45. Fig. 15-13-3 Meiosis I Nondisjunction (a) Nondisjunction of homologous chromosomes in meiosis I (b) Nondisjunction of sister chromatids in meiosis II Meiosis II Nondisjunction Gametes Number of chromosomes n + 1 n – 1 nn

46. Monosomics Lost a copy of a chromosome (not a sex chromosome) Usually do not survive Trisomes: gained a copy of a chromosome Many do not survive either 35% rate of aneuploidy (spontaneous abortions)

47. Polyploidy More than 2 sets of chromosomes 3n or 4n Plants

48. Fig. 15-14

49. Alterations in Structure 1. Deletion: Missing a section of chromosome 2. Duplication: Extra section of chromosome Attaches to sister or non-sister chromatids

50. Alterations in Structure 3. Inversion: Reverse orientation of section of chromosome 4. Translocation: Chromosome fragment joins a nonhomologous chromosome

51. Fig. 15-15 Deletion A B C D E F G HA B C E F G H (a) (b) (c) (d) Duplication Inversion Reciprocal translocation A B C D E F G H A B C B C D E F G H A D C B E F G H M N O C D E F G H M N O P Q RA B P Q R

52. Human disorders Trisomes Babies with extra chromosomes can survive Chromosome 13, 15, 18, 21 and 22 These are the smallest chromosomes

53. Trisomy 13

54. Trisomy 18

55. Down syndrome Trisomy 21 1866 J. Langdon Down 1 in 750 births Similar distribution in all racial groups Similar distribution in chimps and other primates

57. Down Syndrome Mental retardation Heart disease Intestinal problems/surgery Hearing problems/hearing loss Unstable joints Leukemia Single crease in the palm

58. Down syndrome 20 years or younger 1 in 1700 20-30 years 1 in 1400 30-35 years 1 in 750 45 1 in 16

60. Nondisjunction Higher incidence in woman’s eggs than in the men’s sperm Woman’s eggs are in prophase I (meiosis) when she is born Her eggs are as old as she is!!! Men produce new sperm daily

61. Down Syndrome Primarily from nondisjunction Chromosome in woman’s eggs. Therefore age of mom is very important

62. Sex chromosomes X chromosomes fail to separate properly Some eggs with 2 X chromosomes Some eggs with no X chromosome Produce XXX Appears normal

63. Sex chromosomes XXY Klinefelter syndrome (1 in 500 male births) Is a male with some female features Sterile Maybe slightly slower than normal OY does not survive, need the X chromosome

64. Sex chromosomes XO, Turner syndrome Female that has short statue, web neck Sterile 1 in 5000 births

65. Sex Chromosomes XYY 1 in 1000 births Normal fertile males May be taller than normal

66. Translocation Philadelphia chromosome Reciprocal exchange of chromosome #22 and #9 exchange portions Shortened translocated #22 CML

67. Fig. 15-17 Normal chromosome 9 Normal chromosome 22 Reciprocal translocation Translocated chromosome 9 Translocated chromosome 22 (Philadelphia chromosome)

68. Deletion Cri du chat “Cry of the cat” Deletion of chromosome 5 Mental retardation Small head Die in infancy

69. Genomic imprinting Variation in phenotype Depends on allele is inherited from male or female Usually autosomes Silencing of one allele in gamete formation

70. Fig. 15-18 Normal Igf2 allele is expressed Paternal chromosome Maternal chromosome Normal Igf2 allele is not expressed Mutant Igf2 allele inherited from mother (a) Homozygote Wild-type mouse (normal size) Mutant Igf2 allele inherited from father Normal size mouse (wild type) Dwarf mouse (mutant) Normal Igf2 allele is expressed Mutant Igf2 allele is expressed Mutant Igf2 allele is not expressed Normal Igf2 allele is not expressed (b) Heterozygotes

71. Organelle genes Extracellular genes Cytoplasmic genes Mitochondria Chloroplasts Plastids

72. Figure 15.18