1. Mut a tions

2.  Cells do rarely make mistakes copying their own DNA resulting in a change in the DNA.  Mutation – a change in genetic material (DNA).  There are many types of mutations – we will look at some of them.

3. The Creation of Mutation (mutagenesis) - Spontaneous mutation Occurs in DNA replication (1 in 10 9 bp) Chemical mutagens Base pair changers (nitrous acid) Base analogues (e.g.. 5 bromouracil) Frameshift mutagens (aflatoxin, benzpyrene) Radiation X rays, gamma rays break DNA, bases ionizing radiation UV light causes knots in DNA strand Mutations can be spontaneous or can be caused by chemical or physical factors (mutagens).

4. Mutations  Genetic changes (mutations) can occur in either somatic (body) cells or in germ cells (cells that will give rise to gametes).  Somatic cell mutations only affect the cells that are produced by mitosis from the mutant cell. This can be important (e.g. cancer) but does not get passed on to the individual’s offspring.

5. Mutations  Germ cell mutations are incorporated into gametes (sperm or eggs).  All of the cells of the new organism resulting from the joining together of the mutant gamete with another gamete will have the new genetic composition (mutation).  Germ cell mutations are inherited (passed down to offspring).

6. Results of mutations  Can be very harmful (death or disease)  Can be neutral (neither harmful nor good) or not too much different from normal.  Rarely, mutations may prove to be useful to the organism and be passed on to offspring.  All the different alleles present in gene pools are there because of mutations.  This is the raw material on which natural selection acts.

7. Mutations - types  Gene mutations – mutations that produce changes in a single gene.  Point mutations – gene mutations that involve changes in only one (or a few nucleotides).  Chromosomal mutations – Change in the number or structure of chromosomes.

8. Types of point mutations  Substitutions – a different nucleotide  Insertions – an extra nucleotide*  Deletions – a missing nucleotide* *affects the “reading frame”

9. * Frameshift * mutation example  Thecatatetherat  If read like a ribosome reads it (1 codon, 3 “letters” at a time)  The ‍ cat ate the rat  If the 3rd letter is deleted…  Thecatatetherat  Thcatatetherat  Now the line is read…  Thc ata tet her at ??????  Everything downstream from the mistake is affected.

11. One point mutation is all that is takes to cause the sickle cell allele (abnormal hemoglobin protein).

12. **Chromosomal Mutations**  Changes in the number or structure of chromosomes.  Larger-scale change than point mutations.

13. Chromosomal Mutations  Duplication – part of a chromosome is copied and added to the chromosome.  Deletion – part of the chromosome (some of its genes) are lost from the chromosome.  Inversion – a piece of the chromosome is snipped out and then reattached – only in the reverse direction.  Translocation – a piece of one chromosome is attached to a another chromosome.  Often, two non-homologous chromosomes trade pieces with each other.

15. Chromosomal Mutations  The largest change in the DNA of an organism is a change in the number of chromosomes it has.  One can observe these changes in a karyotype.  A karyotype is a visual representation of the chromosomes of an organism.

16. Mouse Karyotype Dog Karyotype

17. HeLa Karyotype

18. Meiosis – Begin with one diploid germ cell and produces, after two rounds of division, four haploid gametes.

19. Errors in meiosis Occasionally, there are errors in meiosis resulting in the wrong number of chromosomes in the gametes. Aneuploid – having an abnormal number of some chromosome.

20. Errors in meiosis Monosomic – Only one of some homologous pair (too few) Trisomic – Three of some homologue (too many)

21. Errors in meiosis The primary cause of these irregular chromosome numbers is nondisjunction – the failure of chromosomes to separate correctly in Anaphase I or Anaphase II of meiosis.

22. The gametes should all have one chromosome for this example (2n = 2, n =1).

23. * Nondisjunction * in humans The most common observable condition in humans related to nondisjunction is Down Syndrome. This is caused by Trisomy 21(three copies of chromosome 21). With only a couple of other rare exceptions, trisomies of autosomes in humans are not viable. Fertilizations involving monosomic gametes (one too few) do not survive.

24. Down Syndrome Down syndrome affects approximately one out of every 700 children born in the U.S. All body cells have 47 chromosomes (3 chromosome 21's) Down syndrome causes characteristic facial features, short stature, and developmental delays. Increased incidence of leukemia, Alzheimer's Decreased rates of high blood pressure, hardening of the arteries, many types of solid tumors.

25. Trisomy 21 (Down Syndrome) - female Trisomy 21 (Down Syndrome) - male

26. Chromosomal mutations Plants have a much simpler developmental plan than do animals. Plants are more immune to the genetic disruption caused by many types of mutations.

27. Chromosomal mutations One common type of chromosomal mutation in plants is polyploidy. Polyploidy is the multiplication of entire sets of chromosomes (four, six, eight sets of chromosomes instead of the usual two (diploid) Polyploids are often larger and more vigorous than their diploid relatives (ancestors).

28. Polyploidy in watermelon diploid polyploid

29. Polyploidy in daylily diploid Tetraploid (polyploid)