1. Chapter 15: The Chromosomal Basis of Inheritance

2. The Chromosomal Theory of Inheritance
Genes have specific loci on chromosomes and chromosomes undergo segregation and independent assortment

3. Chromosomal Linkage Thomas Morgan (early 20th century)
Drosophilia melanogaster(fruit flies)
Associated a specific gene with a specific chromosome

4. P1: Mated white eyed male with red eyed female
Morgan’s Experiment
P1: Mated white eyed male with red eyed female
F1: 100% red eyed
F1 generation mated
F2: 3 red : 1 white
However???

5. Morgan’s Experiment: All females were red eyes:
Half the males were red
The other half were white

6. Morgan’s Conclusion: 1. Eye color was linked to sex
2. specific genes are carried on specific chromosomes
3. genes located on sex chromosomes exhibit unique inheritance patterns

7. Sex-linkage: genes located on a sex chromosome
Linked Genes:
Sex-linkage: genes located on a sex chromosome
Linked genes: genes located on the same chromosome that tend to be inherited together

8. Another Morgan Experiment:
This time he observed body color and wing size:
Wild type = gray body (b+) and normal wings (vg+)
Mutant type = black body (b) and vestigial wings (vg)

9. First Cross: true breeding wild type wit black vestigial wings
b+b+vg+vg+ X bbvgvg
F1 = all wild type phenotype
(b+bvg+vg)

10. Second Cross: female dihybrids vs true breeding reeessive males
b+ bvg+vg X bbvgvg
(test cross)
2300 offspring were scored

11. Results: -High proportion of parental phenotypes
(965 wild type, 944 black vestigial)
-Low proportions of non- parental phenotypes
(206 gray vestigial, 185 black normal)

12. Conclusion: 1. Body color and wing size are usually inherited together
(genes must be on the same chromosome??)

13. 2. Body color and wing size are only partially linked:
Conclusion:
2. Body color and wing size are only partially linked:

14. Explaining Morgan’s Results:
Recombination of unlinked genes vs. linked genes:
Unlinked genes = independent assortment
Linked genes = crossing over

15. Recombination:
Production of offspring with combinations of traits different from those found in either parent!

16. Genetic Mapping:
Genetic maps are an ordered list of the genetic loci along a particular chromosome

17. Genetic mapping: Recombination frequencies depend on:
*Distances between genes on a chromosome

18. Recombination frequency refers to the percentage of recombinants occurring in the offspring

19. *crossing over is a random event
Alfred Sturtevant:
*crossing over is a random event
*the farther apart the genes on a chromosome, the higher the probability that crossing over will occur, so the higher the recombination frequency

20. Sturtevant Reasoning:
The further apart two genes are, the more points between them where crossing over can occur.

21. *experimental crosses reveal recombination frequencies
Linkage Map:
Probability of crossover between two genetic loci is proportional to the distance separating the two loci.
*experimental crosses reveal recombination frequencies

22. Example: Drosophila
Body color (b)
Wing size (vg)
Cinnabar (cn)

23. Map units: Distance between genes on a chromosome
1 map unit = 1% recombination frequency
Do not correspond to physical frequencies

24. Seed and flower color in pea plants:
Genes that are very far apart on the chromosome
Crossing over is almost certain.

25. Frequency of crossing over is not uniform over the length of the chromosome

26. Map units do not portray order of genes on a chromosome

27. Genetic recombination
Crossing over Genes that DO NOT assort independently of each other
Genetic maps The further apart 2 genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency
Linkage maps Genetic map based on recombination frequencies

28. Human sex-linkage
SRY gene: gene on Y chromosome that triggers the development of testes
Fathers= pass X-linked alleles to all daughters only (but not to sons)
Mothers= pass X-linked alleles to both sons & daughters
Sex-Linked Disorders: Color-blindness; Duchenne muscular dystropy (MD); hemophilia X-inactivation: 2nd X chromosome in females condenses into a Barr body (e.g., tortoiseshell gene gene in cats)

29. Sex Linked Genes:
Fathers= pass X-linked alleles to all daughters only (but not to sons)
Mothers= pass X-linked alleles to both sons & daughters

30. Sex Linked Disorders: Sex-Linked Disorders: Color-blindness
Duchenne muscular dystropy (MD)
hemophilia

31. Chromosomal Errors:
Nondisjunction: members of a pair of homologous chromosomes do not separate properly during meiosis I or sister chromatids fail to separate during meiosis II

32. Chromosomal Errors: Aneuploidy: chromosome number is abnormal
Monosomy: missing chromosome
Turner Symdrome -XO
Trisomy : extra chromosome
Down syndrome- Trisomy- 21
Kleinfelters Syndrome- XXY
Polyploidy: extra sets of chromosomes

33. Chromosomal Errors: Alterations of chromosomal structure:
Deletion: removal of a chromosomal segment
Duplication: repeats a chromosomal segment
Inversion: segment reversal in a chromosome
Translocation: movement of a chromosomal segment to another

34. Point mutations: affect protein structure and function
Base pair substitution: one nucleotide pair replacing another
Missense vs. Nonsense mutations
Missense = altered codon still codes for an amino acid – not necessarily the right one
Nonsense = changes the codon to a stop codon
Premature termination leading to malfunctional proteins.

35. Insertions and Deletions:
Adding or losing a nucleotide pair
Disastrous effect on the protein
Causes a Frame Shift:
Nucleotides down stream of the mutation will be improperly grouped into codons that will likely produce a non- functional protein

36. Genomic imprinting a parental effect on gene expression
Identical alleles may have different effects on offspring, depending on whether they arrive in the zygote via the ovum or via the sperm.
Fragile X syndrome: higher prevalence of disorder and retardation in males

38. Inheritance of Organelles:
Some genes are considered extranuclear:
That is not found in nucleus
But, in organelles such as mitochondria and chloroplasts
These genes do not follow mendelian inheritance patterns
Randomly assorted to gametes and daughter cells

39. Inheritance of Organelles:
Organelles are inherited maternally
Sperm only contributes genetic information

40. Mutations:
Plant variegation: due to mutations in the genes that control plant pigments
Pattern of variegation is determined by the ratio of wild type allele vs. mutant type allele for pigmentation

41. Mitochondria DNA mutations:
Heteroplasmy: when a cell contains both wild type and mutant type mtDNA.
Disorders usually affect nervous and muscular systems
They require the most energy from ATP

42. Mitochondria DNA mutations:
Disorders of the optic nerve (leber’s neuropathy) and other eye defects.
Kearns- Sayre Syndrome- abnormal heart rate and central nervous system disorder
Mitochondrial myopathy: muscle deterioration, intolerance to exercise