Mitochondrial DNA • Mitochondria arose from commensal intracellular bacteria in eukaryotic cells • Contain own genome (circular molecule) and own ribosomes • In sexual reproduction, only the egg cell contributes mitochondria to zygote • Thus, inheritance follows maternal line only, no recombination with other mitochondrial genomes • New alleles arise by mutation only Map of human mtDNA genome 1 Investigative uses of mtDNA • Small molecule, easier to recover from very old materials, in comparison with nuclear DNA • D-loop (control) region highly variable since it contains no transcribed genes; use variation in this region to track recent evolutionary events • Origin of Pacific island populations? East from Asia or west from the Americas? Easter Island (Rapanui) Cook Islands, etc • Origin of Native Americans? • References: Sykes, “The Seven Daughters of Eve”; Wells, “The Journey of Man” Analysis of mtDNA sequences Dolan DNA Learning Center – information about mtDNA experiment: http://www.geneticorigins.org/geneticorigins/ • Haplotype: combination of alleles at multiple loci that are (typically) transmitted together on the same chromosome • Haplogroup: group of similar haplotypes related by ancestry • Analysis of many mtDNA sequences from various ethnic groups has resulted in the development of haplogroup trees and inferred maps of human population migrations 2 3 Recovering the Romanovs 1917 – Tsar Nicholas II abdicates the throne of Russia, family is imprisoned 1918 –Russian royal family executed in Yekaterinburg, Siberia 1991 – After dissolution of USSR, remains recovered from area; analysis revealed 9 sets of skeletal remains, whereas 11 had been expected (family members and servants) 1994 – Testing of mtDNA from remains by comparison with living maternal-line relatives confirms that 5 sets of remains are Romanov family members: Nicholas, Alexandra, and 3 daughters; the other four sets are unrelated (servants) 4 Recovering the Romanovs 1998 – The 5 sets Romanov remains are buried in the Cathedral of Saints Peter and Paul in St. Petersburg, Russia 2007 – 2 additional sets of remains are recovered from a site near to the original recovery site; skeletal analysis reveals that these are of the correct age to be the missing son and daughter of Nicholas and Alexandra 2008 – DNA testing confirms that these are the remains of the missing children Link to Dolan DNA Learning Center curriculum materials on “Recovering the Romanovs”: http://www.dnai.org/d/index.html 5