An Over View of Genetic Genealogy and Evolution

This has been written in an attempt to try to understand
 and is not to be considered the result of an in depth study by an expert,
but only to excite your interest in the Noel DNA Project.

In order not to miss anything of importance the starting point of this description almost has to start at the Big Bang 13.75 billion years ago and the expansion of the Universe after which the first elements were assembled from the sub-atomic particles in the first few seconds.  These were the atoms and molecules of deuterium, hydrogen, helium and lithium which are the simplest and the lightest. A gravitational instability created the first stars about 100 million years later. The first galaxies were formed about at about 500 million years and our  Milky Way galaxy at 550 million years after the big Bang.

These first stars were 10 to100 times the mass of the Sun and only lived a few million years fusing hydrogen into Helium  and then collapsing into Black Holes or exploding as brilliant supernovae manufacturing the heavy elements and ejecting this material back into interstellar space to mix and to form a second generation of stars which seeded the universe with the basic building blocks the the sun, a third generation star, and the Solar System about 4.54 billion years ago.

When the earth cooled the water that was brought here by comets and asteroids formed a brine solution that contained the many different compounds found today. Carbon atoms formed long chains called amino acids the building blocks of life.  These molecules started to replicate and combine into more and more complex units and when these replicating units established a state of metabolism and life on Earth began. These life forms remained small and microscopic for at least a billion years. Later these units were able to form a membrane and the cell came into existence. Modern oxygenic photosynthesis had probably developed by about 3.5 billion years ago with aquatic Cyanobacteria. Complex multicellular life arose about 580 million years ago and during the Cambrian period, about 542 to 488.3, million years ago it experienced a rapid diversification into most major phyla.

In the eukaryotic cells a membrane-enclosed organelle formed called mitochondria (mtDNA). It convert food into a form of energy that cells can use called adenosine triphosphate (ATP).  Also a long chain molecule formed that is called deoxyribonucleic acid (DNA) located in the nucleus of the cell.
Algal probably formed on land about 1.2 billion years ago. About 450 million years ago the first land plants appeared and quickly diversified and further enriched the atmosphere with oxygen setting the stage for oxygen dependent animals to develop in the oceans and providing food for an animal invasion. The first verified land animal was a myriapod about 428 million years ago. Then about 375 million years ago an animal intermediate between a fish and the first four legged land animals walked out of water onto land.

The first Primates appeared after the dinosaurs had become extinct some 60 million years ago. About this time the Spider monkey diverged from a common ancestor of all other primates. It must be remembered that many different lines diverged but most would go extinct. Nineteen million years ago the Gibbon spectated followed by the Orangutan 16  million years ago who is 97.4% genetically related to the humans, then the Gorilla nine million years ago. The humans and Chimpanzee diverged before 6.3 million years ago after which there may have been a period of hybridization. The complete specialization occurred after this time with the humans having 46 chromosomes and the Chimpanzee with 48. It is believed that the 12th and 13th chromosome of their ancestor combined into the 2nd chromosome in the humans. The difference in the protein coding genes of humans and the Chimpanzees is only about 1%. However the difference in the non coding part of the genome is about 5%. It is this non coding part of the genome that is used for Genealogical purposes.  The Bonobos diverged from the Chimpanzees just one-to-two million years ago. Therefore our closet living species is the chimpanzee. The chimpanzee is closer related to humans then they are to the gorillas.

The genus Homo evolved by about 2.3 to 2.4 million years ago from Australopithecus a hominid. Today all hominid species other than Homo sapiens are extinct.The first evidence of our modern genus was named Homo habilis which lived from approximately 2.3 to 1.4 million years ago. Homo habilis co-existed with other Homo-like bipedal primates and in May 2010, H. gautengensis was discovered, a species believed to be even older than H. habilis that existed in southern Africa about two million years ago until 600,000 years ago. Homo habilis has often been thought to be the ancestor of the more  sophisticated  Homo egaster which in turn gave rise to the more human-appearing species Homo erectus however this subject is still open to study.

The Replacement Model

The first humans to leave Africa, 1,950,00 years ago, were the Homo ergasters. Some think that they may have been two different sister species, Homo erectus and Homo halbilis. They coexisted for 450,00 years with  Homo erectus  surviving in Asia and dominating the world for nearly a million years. Then Homo rhodesiensis left Africa about a million years ago with the Acheulian culture. Then about 250,000 to 300,000 years ago, a time when there were no Neanderthals or humans, Homo helmei spread out of Africa to cover Eurasia and may have been the progenitor of  Homo neanderthalensis in Eurasia as well as modern man in Africa.  Homo sapiens are believed to have evolved over 195,000 years ago during a near extinction of the Homo lines in Africa. Studies show that both the mitochondrial and Y chromosome trees first branch out about 144,000 years ago.

A mitochondrial DNA study of the human head louse, a type that is found only in the Americas and evolved on Homo erectus, but jumped to Homo sapiens  between 50,000 and 25,000 years ago suggest cross species contact, probably in Asia. “I think it is amazing to know that we had physical contact with another species of human,” said David Reed, curator of mammals at University of Florida's Museum of Natural History and the lead author on the three year study. “We either battled with them, or lived with them, or even mated with them. Regardless, we touched them, and that is pretty dramatic to think about.”  However  a prior independent analysis did not yield the same two geographical lineage's of the lice and the subject is still open to further study. A new genetic study, by Reed and collaborators, of pubic lice suggests the parasites were transferred between early humans and gorillas about 3.3 million years ago. One must wonder if Homo Sapiens breed with Homo erectus and if so why not with Homo neanderthal among others.

In a study of a mutation in the gene MC1R from 24,000 year old Neanderthals, led by Holger Roempler of Harvard, Carles Lalueza-Fox of the University of Barcelona and Michael Hofreiter of the Max Planck Institute, has shown that it may have had a reduced function in pigmentation that could have produced red hair and lighter skin color and is similar to a slightly different human mutation. Also in 2006 researchers discovered that Neanderthals  had the gene known to influence speech in modern humans.

The Expansion Model

As shown by Dr. Alan Templeton of Washington University, Saint Louis, who analyzed many different gene trees based on human DNA sequence data showed that humans long had genetic interconnections all over the globe. He showed that there were at least  three major waves of human migration out of Africa. DNA evidence suggests also that these wanderers bred with the people they encountered, rather than replaced them, in a "make-love not-war" scenario.

Svante Paabo, of the Max Planck Institute  and Edward Rubin of the Lawrence Berkeley National Laboratory and their collaborators have presented their preliminary analysis, in November 2006, in Nature and Science respectively of a bone fragment of a male Neanderthal found in a Croatian cave with a reported age of 38,000 years. Their early conclusions suggest that the modern man and  Neanderthal split about 516,000 years ago (Paabo) or 370,000 years ago (Rubin) and that there is a 99.5% to 99.9% similarity in their DNA. The question if Neanderthals interbred with modern humans was not approached, however it did raise speculation that DNA from anatomically modern humans might have found its way into Neanderthals.  A team headed by Bruce T Lahn of the University of Chicago has reported that a gene that originated in humans 37,000 years ago now appears in 70% of the worlds population. The analysis  indicated that this gene  was possessed  by some other now extinct homo line about a million years ago and it was passed on to the Stone Age people. Michael F Hammer of the University of Arizona in Tucson said that this gene adds to the genetic evidence of interbreeding among various lines of human ancestors, both inside and outside of Africa.

When the Homo sapiens left Africa and expanded around the globe they took  their viruses with them which included the papilloma viruses. As the different populations became isolated so did these viruses. After a 100,000 years the genealogy of the papilloma viruses reflects that of human genealogy, says  Carl Zimmer in the January 2007 issue of Scientific American,  where the  oldest virus lineage  is most common in Africa while the virus of the Native Americans show their relation  to the Asians.

The most recent study  that has recovered about 60 % of the Neanderthal nuclear DNA by Svante Paabo and others (Science, May 7, 2010) showed that Neanderthal interbreeding did occur not in Europe but in the Middle East some 100,000 to 60,000 years ago. The study concluded that about 1 percent to 4 percent of the genome of non-Africans today is derived from the Neanderthals. Since, at this time, no Neanderthal mitochondrial DNA was found in the human m-DNA this would most likely indicate that the male Neanderthals and not the females passed their nuclear DNA to modern humans. (See: Scientific American July 2010). Also the difference between Neanderthal and human DNA is about the same as the difference between humans today.

The modified Out of Africa theory indicates a hominid population migrated into the Middle East, Europe and Western Asia about 400,000 years ago these being the Neanderthals. However a Paleolithic-era member of the genus Homo named Denisovan that may have ranged from Siberia to Southeast Asia show up in 6% of the mtDNA of Melanesians and Australian Aborigines.   The Denisovan migration out of Africa is believed to be prior to the Neanderthals and modern humans, but later then that of Homo erectus. The Homo floresiensis in Indonesia, the Denisovans, the Homo sapiens and Neanderthals lineages may have inhabited Eurasia contemporaneously. These groups had split into separate populations by 400,000 years ago. The Neanderthal lineage migrated northwestward into West Asia and Europe, and the Denisovan lineage moved northeastward into East Asia. The ancestors of modern man made its departure from Africa about 65,000 years ago and they too expanded into Eurasia where they encountered the other groups.

The first modern humans to leave Africa, about 120,000 years ago, during a interglacial optimum, went into the Levant but disappeared by 90,000 years ago when this area became a desert. This desert area was connected with the Sahara in North Africa and left isolated small groups of individuals, maybe in the Nile Delta and the Mediterranean Coast of Morocco, but more definitely in what is now Eritrea. The remaining human populations were restricted to that area south of the Sahara Desert, sub Saharan Africa.  According to the out-of-Africa view as given by Stephen Oppenheimer, developed by studying the mtDNA and the Y-chromosome, is that all modern humans outside of Africa descended from this isolated group on the Red Sea after they crossed to the Arabian Peninsula to present time Yemen, at a time of low ocean height about 80,000 years ago.

The recent study shows that the two populations meet between 80,000 and 50,000 years ago and mated before migrating to East Asia and Europe. The belief is that all other humans outside of Africa such as those in the Levant, the remaining Neanderthals and Homo erectus went extinct. Homo floresiensis may be another line but is still a questionable subject.

ChartThe Europeans did not come directly from Africa nor did they come as one group. The early migration, out of Africa, is believed to have followed the southern Asian coastline from Arabia to southeast Asia, branching to the Polar Desert in northeast Asia and to Australia by island hoping as early as 60,000 years ago.

Spencer Wells, using analysis from the Genographic Project,  shows that there were two waves out of Africa. The first wave were the people who did follow the coastal route to Australia. Then a second wave, about 45,000  to 50,000 years ago left Africa and found their way to the Middle East and from there spread around the world pressing the first wave to the coastal area of their migration path.

  How these people entered the Middle East is not certain but one explanation is that these people came from what is now the submerged land in the Arabian Gulf near India, during a brief interstadial period in this glacial era and were able to enter the Fertile Crescent area of Iraq, which had been a desert previous to this time. This allowed the settlement and passage into present day Syria and Turkey about 50,000 years ago. By 46,000 years ago this Aurignacian culture moved into Bulgaria and up the Danube to Hungary, Austria and Germany. While this was occurring it also spread to Italy, Spain and then to the Portuguese coast and southern France by 38,000 years ago. These modern people  were co-existing with the Neanderthals by 30-35,000 years ago in the southwest of France and the south of Portugal.

A second group entered Europe with the Gravettian culture between 21,000 and 30,000 years ago and are believed to have originated between the Black Sea and the Caucasus Mountains or alternately from south Asia going around the eastern part of the Caspian Sea.  These people then expanded across northern Europe as far as France.

At the height of the Last Glacial Maximum, about 18,000 years ago, most of Northern Europe was unoccupied. By about 12,500 BC, the remaining people in western Europe were confined to today's southern France and northwestern Spain on both sides of the Pyrenees and were known as the Solutrean culture. A second culturally distinct area was in Italy and a third area was in the Ukraine north of the Black Sea with several other small areas of occupation in Slovakia and Moldavia. By 9,000 BC the populations had moved back into France proper and then all of  Europe while the Indo Europeans were migrating westward and by 2250 BC most of all of Western Europe was reoccupied. At this time the people, in the Normandy area, were called the Celto Italics and by 1800 BC the Celto-Ligurians and then the Celts by 1575 BC. The La Tene culture was developed by 415 BC and the people were called the Gauls by 375 BC.  In 44 BC this area was populated by a Gallo-Roman culture. Then by 500 AD Frankish settlers became well established in the area . In the late ninth century AD the Vikings established bases in the area and in 911 Rollo, a Norseman, was recognized by King Charles III of France as the overlord of Eastern Normandy.

Despite all the cultural and political changes in this time frame, the Western Europeans remained, essentially, genetically the same as the survivors of the last glacial period. Archaeologist David Miles in his book The Tribes of Britain  states that about 80% of the British genes are from the Ice Age migration. Since Britain was more isolated than France after the rise in sea level, one might expect a smaller number as the populations further south and east are examined.

The Ancestral lines in the Noel DNA Project:

The nuclear DNA in humans is inherited from both parents and consists of 46 chromosomes, 23 from the mother and 23 from the father while the mtDNA is inherited from the Mother. This means that the mtDNA will trace back on the matrilineal side of the family tree. Of the 23 chromosome from each parent 22 are a match while the 23rd chromosome is different in the male and female. They are named X in the female genome and Y in the male. An X-X combination produces a female while an X-Y combination makes the male. So here the Y-chromosome traces the patrilineal line of man which coincides in the Western World with the Surname..

A Y-DNA haplogroup is defined as all of the male descendants of the single person who first showed a particular single-nucleotide polymorphism (SNP, pronounced snip) SNP mutation. This is a DNA sequence variation occurring when a single nucleotide of the four bases found in DNA, adenine (abbreviated A), cytosine (C), guanine (G) and thymine (T), differs between members of a biological species or paired chromosomes in an individual.

The expression  Y-STR is acronym for a short tandem repeat (STR) on the Y-chromosome. The letters  DYS have been used in genetic genealogy for a Y-STR.  This is for D for DNA, Y for the Y-chromosome and S for a short tandem repeat. These are the values that separate the sub-groups in a haplogroup into individual genetic lines and are called markers.

Below is the order of the Markers that appeared which distinguishes the different haplogroups. The markers were numbered in the order that they were discovered. This shows that  haplogroup E3b split from the others, then the remaining groups split from each other with the J haplogroup separating into J1 and J2 .

Ref:  Deep Ancestry - Spencer Wells

E3b - "Adam"  >   M42       >        M168      >    YAP      >     M96      >       M2
K2  -  "Adam"   >   M42       >        M168      >    M89     >     M9        >        M70
R1b- "Adam"   >   M42       >        M168     >    M89     >     M9         >       M207     >     M173     >     M343
I1a -  "Adam"   >   M42       >        M168     >    M89     >     M170    >       M253
J1  -   "Adam"   >   M42       >        M168     >     M89     >    M304     >      M267
G   -   "Adam"     >   M42       >      M168     >     M89     >    M201

E       -   This haplogroup first appeared in northeast Africa. They may have left in the second wave of migration into the Middle East.
E3b  -   These were some of the first farmers who spread across the Mediterranean.

G     -    The National Geographic Society places haplogroup G origins in the Middle East 30,000 years ago.
      -   A Middle Eastern clan who migrated to the Balkans and then into Central Europe about 21,000 to 28,000 years ago.
             They were forced in the last ice age into the Balkans and Iberia.
I1a  -    20,000 years ago this haplogroup sought refuge from the Ice Age on the Iberian Peninsula. Later, 15,000 years ago, they expanded
             over Western Europe. Today they are found in Northwestern Europe with a high frequency in western Scandinavia.

J       -   The patriarch of the J haplogroup was born about 15,000 years ago in the Fertile crescent.
J1     -   Emerged in the Middle East during the Neolithic Revolution. They were the successful farmers and spread to North Africa where it is in
             its highest frequency. They are also found at low frequencies in western Europe.
J2     -   J2 like J1 is from the Middle East, then Northern Africa and Southern Europe. In Italy its frequency is 20% and in southern Spain it is 10%.

R      -   An Asian clan that split, one going towards Europe and then much later the other within the last 10,000 years went to India.
R1    -   These are the descendants of the first large scale human settlers in Europe about 35,000 years ago. The Ice Age forced them into Spain, Italy
              and the Balkans.
R1b  -   These were the Cro-Magnon people who migrated out of the area north and south of the Pyrenees to cover  western Europe .

K - The M9 mutation first appeared around 40,000 years ago in Iran or south-central Asia. They migrated around their local world until they were blocked by the Hindu Kush, the Tian Shan, and the Himalayas. This area is known as the Pamir Knot located in Tajkistan. Here they split into different groups and today represent nearly all North Americans and East Asians including most of the Europeans and and many from India.
K2 - Those who stayed in the Pamir Knot developed the M70 mutation about 30,000 years ago. This group dispersed across the Mediterranean along the coast of North Africa and Europe. They may have been the Phoenician traders from modern Lebanon.  The highest frequency today is in the Middle east (15%) and in northeastern Africa. They are also found in southern Spain and France.

Where will the future of Genetic Genealogy lead us?

There are now some twenty companies with products relating to genealogy. They are starting to research the autosomal chromosomes. These are the 22 pairs of chromosomes that are not the sex chromosomes X and Y. The autosomal chromosomes have an equal number of copies in males and females.

Excerpts from The Genetic Genealogist about Ancestry.coms Autosomal DNA Product

February 4, 2012

There are about 100 errors per generation, which are the clues left by our ancestors about where they were in the past.  We will be able to get to the point where we can analyze and use that DNA content to tell us things like: “what town did they live in in the past, and when did they live there, and things like that that are really going to revolutionize, I think, the way we think about DNA.”

“We’re also going to integrate DNA into records in a way that people may not think is immediately obvious, but the DNA is also going to help pick out who the right John Doe that you’re looking for in the future, and we’re working on things like that.”

"Combining the results of autosomal DNA with family trees and paper records is, of course, the future of genetic genealogy."

24 February 2012

"WDYTYA Reveals More Information About Ancestry.coms New Autosomal DNA Testing.
According to Dr. Chahine, the test Mr. Underwood used examined approximately 700,000 “links” (or SNPs) in the DNA chain.
Mr. Underwoods results suggested that the DNA examined was approximately 26% European and 74% African, which is a fairly common admixture for African Americans. Under the “European” tab of the user interface, he was described as 20% French/Swiss and 6% German. Under the “African” tab, the results showed 27% Bamoun, 22% Brong, 13% Yoruba, and 12% Igbo (a total of 74%). "

27 February 2012

"It is vital that users of any autosomal DNA testing service understand both the capabilities and limitations of the science, and that testing providers work to educate their customers."


The markers, if published, do not identify an individual only the genetic line that that individual matches.

“The danger to test-takers, however, is almost nil; a public Y-DNA profile is either incomprehensible or useless for 99.99% of the world.  And keep in mind that if a criminal is identified using this method, it is the criminal activity that endangered him, NOT the public Y-DNA databases!” However with autosomal testing it is a whole new ball game with foreseen and unforeseen consequences.

Other Ref:

Atlas of Medieval Europe - Angus Konstam
The Penguin Atlas of Ancient History - Colin McEvedy,
The Real Eve  -  Stephen Oppenheimer
Deep Ancestry - Spencer Wells
The Tribes of Britain - David Miles
From Wikipedia, the free encyclopedia
The Genetic Genealogist
And the Internet in general