1. BDC331 Conservation Genetics 2015 Mr. Adriaan Engelbrecht Department of Biodiversity and Conservation Biology New Life Sciences Building Core 2, Room 4.100 adengelbrecht@uwc.ac.za

2. Module outline Introduction into molecular genetics Traditional and molecular characters in genetic studies DNA sequencing Techniques for acquiring molecular data Interpretation of data derived from genetic studies The use of molecular data in Conservation biology

3. DNA the double Helix of life Nucleotide –a deoxyribose sugar, and –a phosphate group that - bridge between deoxyribose sugars –a nitrogen-containing pyrimidine or purine base Purines – Adenine – Guanine Pyrimidines – Cytosine – Thymine 1’ carbon has base 3’ carbon has phosphate group 5’ carbon has phosphate group 5 5 6 6

4. What does it do? Protein synthesis needs transcription and translation –via mRNA - tRNA –The Central Dogma And this occurs via a set of RULES: The Genetic Code

5. The genetic code Three mRNA nucleotides = Codon Codon (reading frame) produces 1 amino acid Or to start (AUG) or stop (UAA, UAG, UGA) 1.It is degenerate (amino acids can be produced by more than one codon) 2. It is unambiguous (each codon = one amino acid) 3. It is universal (all organisms with a specific codon will produce the same amino acid!!!) http://www.youtube.com/watch?v=zwibgNGe4aY http://www.youtube.com/watch?v=5MQdXjRPHmQ http://www.youtube.com/watch?v=0SCjhI86grU http://www.youtube.com/watch?v=GhHOjC4oxh8

6. The drivers of genetic variation Gene flow Sex Mutations

7. Point mutations (Base substitutions) –missense – one amino acid for another –conditional – environmental dependent –nonsense – stop codon –silent – subtle or non expressive Frame shifts –Insertions –Deletions Chromosomal d eficiencies –Translocations –Inversions –Duplications Aneuploidy –Monosomy –Trisomy –Quatrosomy Mutation rate in Human mtDNA Is 0.00003 per base per 20 year generation Human genomic DNA ? ~0.0000000011 per site per generation Plants

8. So what? Mutations are the ultimate source of genetic variation -Only mutations produce new alleles!!! What are the sources? - DNA replication errors - Meiosis - Chromosomal breakages - Mutagens (such as radiation or chemicals!!!!) http://www.youtube.com/watch?v=hOfRN0KihOU http://www.youtube.com/watch?v=0SCjhI86grU http://www.youtube.com/watch?v=GhHOjC4oxh8

9. Conservation genetics Evolutionary genetics Taxonomic uncertainty Species biology Population structure & fragmentation Introgression Small populations Mutation accumulation inbreeding Genetic diversity loss Extinction Genetic management Reproductive fitness MU identification Wild captive reintroduction Genetic adaptation to captivity Frankham et al. 2002