1. Chromosome Mutations: Variation in Chromosome Number and Arrangement
PowerPoint® Lecture Presentation for Concepts of Genetics Ninth Edition Klug, Cummings, Spencer, Palladino
Chapter 8
Chromosome Mutations: Variation in Chromosome Number and Arrangement
Lectures by David Kass with contributions from John C. Osterman.
Copyright © 2009 Pearson Education, Inc.

2. 8.1 Specific Terminology Describes Variations in Chromosome Number
Aneuploidy
Euploidy
Polyploidy

3. Nondisjunction
Figure 8-1 Nondisjunction during the first and second meiotic divisions. In both cases, some of the gametes formed either contain two members of a specific chromosome or lack that chromosome. Following fertilization by a gamete with a normal haploid content, monosomic, disomic (normal), or trisomic zygotes are produced.
Figure 8.1

4. 8.2 Monosomy, the Loss of a Single Chromosome, May Have Severe Phenotypic Effects

5. Section 8.3
8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome
Trisomy (2n + 1 chromosomes) for the sex chromosomes has a less dramatic phenotype than trisomies for autosomes, which are often lethal.

6. Jimson weed: Datura stramonium
Figure 8-2 Drawings of capsule phenotypes of the fruits of the Jimson weed Datura stramonium. In comparison with wild type, each phenotype is the result of trisomy of 1 of the 12 chromosomes characteristic of the haploid genome. The photograph illustrates the plant itself.
Figure 8.2

7. Section 8.3
Down syndrome results from trisomy of chromosome 21. (Figure 8.4)

8. Figure 8-6 Incidence of Down syndrome births contrasted with maternal age.

9. Patau Syndrome
Figure 8-6 The karyotype and potential phenotypic characteristics associated with Patau syndrome, where three members of the D group chromosome 13 are present, creating the 47,13+ condition.
Figure 8.6

10. Edwards Syndrome
Figure 8-7 The karyotype and potential phenotypic characteristics associated with Edwards syndrome. Three members of the E group chromosome 18 are present, creating the 47, condition.
Figure 8.7

11. Section 8.3
Trisomies are often found in spontaneously aborted fetuses, but monosomies are not.
This suggests that monosomic gametes may be functionally impaired.

12. Section 8.4
8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants
The naming of polyploids is based on the number of sets of chromosomes found:
a triploid has 3n chromosomes
a tetraploid has 4n chromosomes
a pentaploid, 5n chromosomes
and so forth

13. Section 8.4 Polyploidy can originate by:
the addition of one or more sets of chromosomes identical to the haploid complement of the same species (autopolyploidy)
or the combination of chromosome sets from different species as a consequence of interspecific matings (allopolyploidy) (Figure 8.8)

14. Figure 8-9 Contrasting chromosome origins of an autopolyploid with an allopolyploid karyotype.

15. Section 8.5
8.5 Variation Occurs in the Internal Composition and Arrangement of Chromosomes
Rearrangements of chromosome segments include:
deletions
duplications
inversions
nonreciprocal translocations
reciprocal translocations (Figure 8.13)

16. Figure 8-14 Overview of the five different types of rearrangement of chromosome segments.

17. 8.6 A Deletion Is a Missing Region of a Chromosome
When a chromosome breaks in one or more places and a portion of it is lost, the missing piece is referred to as a deletion (or a deficiency).
The deletion can occur:
near one end (terminal deletion)
or from the interior of the chromosome (intercalary deletion) (Figure 8.14)

18. Figure 8-15 Origins of (a) a terminal and (b) intercalary deletion
Figure 8-15 Origins of (a) a terminal and (b) intercalary deletion. In part (c), pairing occurs between a normal chromosome and one with an intercalary deletion by looping out the undeleted portion to form a deletion (or a compensation) loop.
Figure 8.14

19. Section 8.6
Cri-du-chat results from a segmental deletion of a small terminal portion of the short arm of chromosome 5 (Figure 8.15).

20. Section 8.6
The type of Notch phenotypic expression of recessive genes in association with a deletion in Drosophila is an example of pseudodominance.

21. 8.7 A Duplication Is a Repeated Segment of the Genetic Material
Duplications arise as the result of unequal crossing over during meiosis or through a replication error prior to meiosis (Figure 8.17).

22. Section 8.7
Organisms have multiple copies of the ribosomal RNA genes (rDNA).
This is an example of gene redundancy.
Gene amplification is another mechanism to increase the rRNA.

23. The Bar-eye phenotype in Drosophila results from duplication (Figure 8

24. Section 8.8 8.8 Inversions Rearrange the Linear Gene Sequence
An inversion involves a rearrangement of the linear gene sequence rather than the loss of genetic information.
In an inversion, a segment of a chromosome is turned around 180° within a chromosome.

25. Figure 8-19 One possible origin of a pericentric inversion.

26. Figure 8-20 A comparison of the arm ratios of a submetacentric chromosome before and after the occurrence of a paracentric and pericentric inversion. Only the pericentric inversion results in an alteration of the original ratio.
Figure 8.20

27. Section 8.8
Synapsis of inverted chromosomes requires an inversion loop (Figure 8.21).

28. Section 8.8
Figure 8.22 shows the effects of a single crossover within an inversion loop for both paracentric and pericentric inversion heterozygotes.
For a paracentric inversion crossover:
one recombinant chromatid is dicentric (two centromeres)
one is acentric (lacking a centromere)

29. Figure 8-22 The effects of a single crossover within an inversion loop in cases involving (a) a paracentric inversion and (b) a pericentric inversion. In (a), two altered chromosomes are produced, one that is acentric and one that is dicentric. Both chromosomes also contain duplicated and deficient regions. In (b), two altered chromosomes are produced, both with duplicated and deficient regions. Ultimately, the number of viable gametes resulting from these events is reduced by about 50 percent because the abnormal outcomes are likely to be lethal.
Figure 8.22

30. 8.9 Translocations Alter the Location of Chromosomal Segments in the Genome
Translocation - movement of a chromosomal segment to a new location in the genome.
Reciprocal Translocation:
involves exchange of segments between 2 nonhomologous chromosomes
has an unusual synapsis configuration during meiosis

31. Figure 8-23 (a) The possible origin of a reciprocal translocation; (b) the synaptic configuration formed during meiosis in an individual that is heterozygous for the translocation. (c) Two possible segregation patterns, one of which leads to a normal and a balanced gamete (called alternate segregation) and one that leads to gametes containing duplications and deficiencies (called adjacent segregation).
Figure 8.23

32. Section 8.9
Robertsonian translocation or centric fusion involves breaks at the extreme ends of the short arms of 2 nonhomologous acrocentric chromosomes

33. Familial Down Syndrome
Figure Chromosomal involvement in familial Down syndrome. The photograph illustrates the relevant chromosomes from a trisomy 21 offspring produced by a translocation carrier parent.
Figure 8.25

34. Section 8.10
8.10 Fragile Sites in Humans Are Susceptible to Chromosome Breakage
Fragile sites are more susceptible to chromosome breakage when cells are cultured in the absence of certain chemicals such as folic acid.

35. Section 8.10
Fragile X syndrome (Martin–Bell syndrome) is the most common form of inherited mental retardation, affecting about 1 in 4000 males and 1 in 8000 females, and is a dominant trait (Figure 8.26).