1. Where do we come from?

2. -Homo erectus evolved in Africa and spread to the rest of the world ~1-2 million years ago. Where do we come from? 1. Multiregional evolution 2. Recent African origin Two main hypothesis: What about the evolution of the modern humans?

3. Human Genetics -Human genome contains about 30,000 genes. -The haploid human genome occupies a total of just over 3 billion DNA base pairs. Mutations in human DNA are used to show relationships and evolutionary history.

4. What are Mitochondria? -They are responsible for making ATP, the cell energy-coin -Mitochondria are organelles living inside the cell

5. Where do Mitochondria come from? - Originally from small bacteria swallowed by larger bacteria. phagocytosis

6. How do we know they evolved from bacteria? -They have there own circular genome, like bacteria -Double membrane: Original + Phagosome -Protein-synthesis machinery resembles bacteria - And more...

7. How are Mitochondria passed during fertilization? Both men and women possess mtDNA, but only women pass it on to their children. While female eggs contain lots of mitochondria, male sperm contains only a few, which are destroyed after fertilization. When cells divide, mitochondria are divided as well

8. mtDNA Therefore, the mitochondria that we have are passed down from mother to children

9. The human mitochondrial genome The rate at which mutations occur in nuclear DNA is extremely low (~only one in one thousand million will mutate at every cell division). In mitochondria, about twenty times as many mutations.

10. Chromosomes Mitochondrial genome Vs. 16,500bp 3 billion bp Inherited from both parents Inherited from the mother Error –checking mechanisms Mutation rate: 1 in 1,000,000,000 High mutation rate (10 -4 )

11. The human mitochondrial genome ? ? ?

12. Mitochondrial D-loop (variable region) ATTCTAATTT AAACTATTCT CTGTTCTTTC ATGGGGAAGC AGATTTGGGT ACCACCCAAG TATTGACTCA CCCATCAACA ACCGCTATGT ATTTCGTACA TTACTGCCAG CCACCATGAA TATTGTACGG TACCATAAAT ACTTGACCAC CTGTAGTACA TAAAAACCCA ATCCACATCA AAACCCCCTC CCCATGCTTA CAAGCAAGTA CAGCAATCAA CCCTCAACTA TCACACATCA ACTGCAACTC CAAAGCCACC CCTCACCCAC TAGGATACCA ACAAACCTAC CCACCCTTAA CAGTACATAG TACATAAAGC CATTTACCGT ACATAGCACA TTACAGTCAA ATCCCTTCTC GTCCCCATGG ATGACCCCCC TCAGATAGGG GTCCCTTGAC - D-loop has high mutation rate

13. “Molecular clock” Mutation rate: 1 per 20,000 years (for mitochondrial variable region )

14. Gene sequence A: AGACGCCTATATA Gene sequence B: AGGCGCCTATATA Gene sequence C: AGACGCCTATTTA Example

15. A B C AGACGCCTATATA AGGCGCCTATATA AGACGCCTATTTA Example

16. AGGCGCCTATATA AGACGCCTATATA AGACGCCTATTTA B A C Sequence B is approximately 20,000 years older then sequence A and 40,000 years older then sequence C. Example

18. We can determine common ancestral mothers by changes in the sequence of the mitochondrial genome

19. African Eve or the Mitochondrial Eve Many researchers take the mitochondrial evidence as support for the "single-origin" or Out-of-Africa model The existence of the Mitochondrial Eve is NOT a theory; it is a mathematical fact

20. The migration of maternal clans

22. The Seven Daughters of Eve Helena Xenia Ursula Katrine Tara Velda Jasmine

23. PCR sequencing Sequencing analysis Next week:

24. Reference sequence (Helena): ATTCTAATTTAAACTATTCTCTGTTCTTTCATGGGGAAGCA GATTTGGGTACCACCCAAGTATTGACTCACCCATCAACAA CCGCTATGTATTTCGTACATTACTGCCAGCCACCATGAATA TTGTACGGTACCATAAATACTTGACCACCTGTAGTACATAA AAACCCAATCCACATCAAAACCCCCTCCCCATGCTTACA AGCAAGTACAGCAATCAACCCTCAACTATCACACATCAA CTGCAACTCCAAAGCCACCCCTCACCCACTAGGATACCA ACAAACCTACCCACCCTTAACAGTACATAGTACATAAAGC CATTTACCGTACATAGCACATTACAGTCAAATCCCTTCTC GTCCCCATGGATGACCCCCCTCAGATAGGG GTCCCTTGAC Sequencing analysis

25. THE END