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Using Human Genomes for Ancestry

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Using Human Genomes for Ancestry Human Origins, World Migrations, and the Myth of Race (“Our genes define who we Are”) Thomas C. Spelsberg, Ph.D. George M. Eisenberg Professor And Mayo Distinguished Investigator Dept. of Biochemistry and Molecular Biology Mayo Clinic, Rochester, MN Physical and Molecular Anthropology say: Modern Humans (Homo Sapiens) appear ~200,000 YA in Africa And permanently Exited ~ 50-60,000 YA (New info says = 90,000 YA) Guns, Germs, and Steel, Jared Diamond, 1999, W.W. Norton & Company. Ending up all over the World--In Europe and Asia as light skinned Eurasians. Molecular Anthropology has explained how this occurred? The Human Genome Project created Molecular Anthropology (The Human Genome Information would fill 200 city phone books or 2000 average computer diskettes) Chromosome (Unraveling) The Human Genome Project sequenced all 1 5' the DNA in all the 2 5 3 4 chromosomes DNA of Whole 7 6 etc. 3' Chromosome dsDNA 11 8 9 10 Gene Gene Intergene Domain Domain Typical Gene Domain (( ) ( ) ( ) ) 5' 3' Bases The Genome project represented the se- A G G T T A T G C C G T A A T etc DN A T C C A A T A C G G C A T T A quencing of 3 Billion bases along the DNA ©1999 T.C. Spelsberg, Mayo Clinic mRNA Protein Body Structure & Functions Comparative Genomics: >90% Genomic Homology between Whale and Human Myoglobin Genes WHALE GTGTGGTCTCG T GATCA A AGGCG A AAG G TGGCTCTAGAGAATCCC HUMAN GTGTGGTCTCG C GATCA G AGGCG C AAG A TGGCTCTAGAGAATCCC Taken from Alberts et al, 1997, Essential Cell Biol, Garland Comparative Genomics (Genome Homologies Among Living Organisms) Human Monkey Mouse Thale Nematode Fruit Yeast TB (Primates) (Mammals) cress worm Fly Microbe No. of Genes : 25,000 ± 5,000 IBID IBID 26,000 18,000 13,000 6,000 4,000 % of total sequences 99.9 % 98 % 90 % 50 % 33 % 50 % 38 % 5-10 % Homologous : with Humans Taken in part from Dominic Li / Wellcome Trust Medical Photographic Library Modified by T.C. Spelsberg & K. Peters AllAll HumansHumans onon EarthEarth HaveHave 0.01%0.01% functionalfunctional differencesdifferences atat thethe DNADNA levellevel (or(or 10105 changeschanges inin thethe wholewhole Genome)Genome) How did Humans become Different? Humans separated by Different time, geography, and appearance, etc. environment These differences are generated by constant, random changes in our DNA by natural Genetic Drift and Environmental Selection. 1. Natural Genetic Drift( DNA changes) enables living organisms to change/ adapt. 2. The Geographic Isolation and Environment then selects only the fittest to survive, ie. those whose Physical/ metabolic changes enables them to adapt. © 2010, T.C. Spelsberg, Mayo Clinic Using Human Genomes for Ancestry: Analyzing the PMs in the Y Chromosome- and Mitochondrial DNA Nucleus Cell 100’s of Mitochondria 46 Nuclear Chromosomes Mitochondrial DNA (chromosome) Y Chromosomal DNA Inherited Mitochondrial DNA only from males Inherited only from females chromosome Double stranded DNA PMs PMs eg. SNPs eg.SNPs A G G C A T G C G T A C G T A T T C C G T A C G C A T G C A T A Molecular Anthropology uses these PMs to identify the origins/ ancestry of humans and other animals. © 2010, T.C. Spelsberg Polymorphisms evolve from an expansion of mutations in a population (Assuming 4 Surviving Children per Family) Polymorphisms start with a rare mutation in Parents 20 yr 1st Generation 1 2 3 4 40 yr 2nd Generation 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 60 yr 3rd Generation 1-4 5-8 9-12 13-16 49-52 53-56 57-60 61-64 Generations Time Elapsed Population Mutation frequency Beginning 0 2 would expand to >1% to 1st Generation 20 yr 4 = 2nd Generation 40 yr 16 become polymorphisms 3rd Generation 60 yr 64 in that population. 4th Generation 80 yr ~256 5th Generation 100 yr ~1024 10th Generation 200 yr >1 Million with the mutation = a polymorphism © 2010, T.C. Spelsberg Using Polymorphisms to Trace Human Migrations & Ancestry G T C G C C T C A G C G G A Migration 3 Location 4 G T C G C C G C A G C G G C Migration 1 Migration 2 Migration 4 A T T G C C G G T T G C C G G T C G C A G T A A C G G C C A A C G G C C A G C G T C Location 5 Migration 5 G T T G C C A C A A C G G T 50,000 YA Origin 30,000 YA 10,000 YA Current Location 1 Location 2 Location 3 Location 6 © T.C. Spelsberg 2009 Earliest Homosapiens Genetic Migrations Out of Africa ( ~ 60,000 YA ) 30,000 YA 30,000 YA 40,000 YA 10-30,000YA 35,000YA 45,000 YA 40,000YA 40,000 YA 45,000 45,000 YA YA 20,000 YA 50,000 YA 30,000 YA 50,000 YA 60,000 YA 70,000 YA 60,000 YA 50,000 YA 200,000 YA ORIGIN 60,000 YA 50,000 YA Spencer Wells, 2006, Deep Ancestry: Inside the Genographic Project, Natl Geo., Washington, DC Conclusions- I ● The Genomic differences among all Humans on the Earth are insignificant compared to differences between Humans and other Living Organisms. ● Human Populations( ethnic groups) around the world do not belong to different species. They look different, but are only “variants” of the same species with only minor genetic differences. ● Best Scientific Support = All Humans can/ do interbreed, while different animal species cannot. T.C. Spelsberg, PhD, Mayo Clinic Subsequent migrations by Humans into and around Europe: 30,000 to 20,000 YA Europe 20,000 - 25,000 YA Atlantic Ocean 9,000 - 17,000-30,00 0 25,000 YA 15,000 YA 15,000 YA Mediterranean 17,000 YA 17,000 YA Taken from: S. Molenyak & Turner 2004, “Trace Your Roots With DNA”, Rodale Pub. Humans Who had Taken Refuge in warmer climates during previous Ice Age Returned North ~12,000 BC ICE AGE 20,000 YA Europe Atlantic Ocean FARMING POST ICE AGE 12,000 YA Mediterranean Southern areas served as staging grounds for the future recolonization of Europe. S. Wells, 2006, Deep Ancestry: Inside the Genographic Project, Natl Geo., Washington, DC How Gentically “pure” are we as “Individuals” Two Scandinavian Women (Swedish actress Ingrid Bergman & Daughter) Guns, Germs, and Steel, Jared Diamond, 1999, W.W. Norton & Company. The average European females/males living today are mixtures of 7 or more major migrations TIME FEMALE ORIGINS Sharing their Genome 1. 45,000 YA From Greece / Africa Ursula U 2. 25,000 YA Middle East & Russia Xenia X (Spread into Americas) 3. 20,000 YA Border France & Spain Helena H Came from Middle East? 4. 17,000 YA Mediterranean Tara T 5. 15,000 YA Northern Italy Katherine K 6. 15,000 YA Spain/Portugal Velda V 7. 9,000 YA Mid-East w/ spread of Jasmine J Agriculture The same world wide mixing/ breeding of all Humans occurred wherever they interacted. Taken from: B. Sykes, 2001, Seven Daughters of Eve, W W Norton Co., NY All Humans on Earth are related [Past Human Generations and number of Ancestors (20 years / generation)] Generations Years ago (from 2010) Number of ancestors 3 60 (1950 AD) 8 5 100 (1910 AD) 32 8 160 (1850 AD) 256 10 200 (1810 AD) 103 (thousand) 15 300 (1710 AD) 3 x 104 (30 thousand) 20 400 (1610 AD) 106 (1 million) *25 500 (1510 AD) 30 x 106 (30 million) * Everyone now is related to everyone else within a reasonable Geographic area 30 600 (1410 AD) 109 (1 billion) 40 800 (1210 AD) 1012 (1 trillion) At 30 Generations ago, all Humans are related. Conclusions- II ● All Humans, no matter what Race/ ethnic group, are related (cousins) and all are African. ● Purity of race does not exist. All populations mixed with others wherever they coexisted : - modern humans even mated with Neanderthal and another Early Human species: Denosivan. ● All races/ ethnic groups have Genetic weaknesses and strengths. ● Europe, Americas, Asia, Australia and Africa are continents of healthy, energetic mongrels. © 2010, T.C. Spelsberg Conclusions- III Human Populations( Ethnic Groups), separated geographically and environmentally over thousands of years, will display differences in their DNA( PMs) which, in turn, cause differences in: a) Physical/ Athletic Traits b) Metabolic Traits c) Disease Incidence/ predisposition. T.C. Spelsberg, PhD, Mayo Clinic < 1 > Examples of Population specific Adaptive Physical Traits in Ethnic Groupd (Due to Environmental Selection) ● Asian eyes (shapes and lids) protect against sun glare; short stature, short nose, large sinuses, and flat faces protect against cold weather. ● Athletic performance, incl. Muscle structure and Physiology. Fast running/ jumping (west African) and endurance running (east African), enabled survival in those regions. ● Skin shading supports optimal vitamin D production, Vit B (folate) levels, and protection from Skin cancer, etc. Melanin = Africa/ Eurasia Beta Carotene = Asia Skin Shade is simply an Adaptation 1. Darker skin shades in equatorial regions protect against: a) Sunburn and infections b) Skin cancer c) Folate (Vit B) destruction d) Excess Vit D production *(Albinos in Africa are light skinned and die young of skin cancer) 2. Lighter skin shades in polar regions with less sun allows: a) Adequate Vit D production b) Vit B (folate) stability 3. Skin shade estimated to be reversed within 10-20,000 years (500 – 1000 generations) EveryoneEveryone youyou seesee oror meetmeet duringduring youryour lifetimelifetime isis aa mongrelmongrel whowho isis youryour cousincousin atat somesome levellevel-- withwith GeneticGenetic FlawsFlaws Tracing Genomic Descendants of Recent the 5300 Year Old Iceman Ancestry In Our Blood, Claudia Kalb, Newsweek Feb 6, 2006 Genomic Descendants of Thomas Jefferson In Our Blood, Claudia Kalb, Newsweek Feb 6, 2006 Available on Amazon.com Barnes +Noble; ebooks www.
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