Brit-Am Anthropology and DNA Update (21 December 2016, 21 Kislev, 5777)
[Note:
Some of the entries below are interesting in their own right. Others have been included for future research purposes.]
Contents:
1. The TS mutations as a Challenge to DNA
2. "Great Surprise", Native Americans Have West Eurasian Origins
Oldest human genome reveals less of an East Asian ancestry than thought.
3. Druze Connection to Ashkenazi Jews.
Warning: Reported finds have been disputed.
4. 'DNA Links Prove Jews Are a 'Race,' Says Genetics Expert
5. DNA Changes During Lifetime?
6. Half of Western European men descended from one Bronze Age 'king'
7. Early North French DNA Connection with English
8. Conversion table for Y chromosome haplogroups
9. Yair Davidiy and the Tribe of Dan in Britain?
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1. The TS mutations as a Challenge to DNA
Note:
Tay-Sachs is a disease often found among Jews. Carrying the TS gene may impart advantages in that it provides a degree of immunity against certain diseases.
TS may be used as an indicator of possible Jewish origin. TS is also found in French Canadians, in a type of sheep, and in flamingo birds. TS is therefore due to a mutation that is not necessarily solely acquired through heredity.
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(a) Jews. Learning About Tay-Sachs Disease
https://www.genome.gov/10001220/learning-about-taysachs-disease/
Defect in Hex-A Gene Causes Tay-Sachs:
Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the GM2 ganglioside lipid. Carriers of Tay-Sachs - people who have one copy of the inactive gene along with one copy of the active gene - are healthy. They do not have Tay-Sachs disease but they may pass on the faulty gene to their children.
Carriers have a 50 percent chance of passing on the defective gene to their children. A child who inherits one inactive gene is a Tay-Sachs carrier like the parent. If both parents are carriers and their child inherits the defective Hex-A gene from each of them, the child will have Tay-Sachs disease. When both parents are carriers of the defective Tay-Sachs gene, each child has a 25 percent chance of having Tay-Sachs disease and a 50 percent chance of being a carrier.
Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease:
While anyone can be a carrier of Tay-Sachs, the incidence of the disease is significantly higher among people of eastern European (Ashkenazi) Jewish descent. Approximately one in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene. Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs. For the general population, about one in 250 people are carriers.
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(b) Spontaneous appearance of Tay-Sachs disease in an animal model.
Zeng BJ1, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH.
https://www.ncbi.nlm.nih.gov/pubmed/18693054
Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of beta-hexosaminidase A (Hex A). Deficiency of Hex A in TSD is caused by a defect of the alpha-subunit resulting from mutations of the HEXA gene. To date, there is no effective treatment for TSD. Animal models of genetic diseases, similar to those known to exist in humans, are valuable and essential research tools for the study of potentially effective therapies. However, there is no ideal animal model of TSD available for use in therapeutic trials. In the present study, we report an animal model (American flamingo; Phoenicopterus ruber) of TSD with Hex A deficiency occurring spontaneously in nature, with accumulation of G(M2)-ganglioside, deficiency of Hex A enzymatic activity, and a homozygous P469L mutation in exon 12 of the hexa gene. In addition, we have isolated the full-length cDNA sequence of the flamingo, which consists of 1581 nucleotides encoding a protein of 527 amino acids. Its coding sequence indicates approximately 71% identity at the nucleotide level and about 72.5% identity at the amino acid level with the encoding region of the human HEXA gene. This animal model, with many of the same features as TSD in humans, could represent a valuable resource for investigating therapy of TSD.
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(c) Jacob sheep
From Wikipedia, the free encyclopedia
https://en.wikipedia.org/wiki/Jacob_sheep
Tay-Sachs disease mode
Tay-Sachs disease is one of several related genetic disorders in humans known as lysosomal storage diseases. It is caused by a deficiency of hexosaminidase A, an enzyme involved in the hydrolysis of GM2 ganglioside. This enzyme deficiency is caused by a mutation on the HEXA gene on chromosome 15. An autosomal recessive pathophysiology, Tay-Sachs disease is characterized by progressive deterioration of mental and physical abilities, usually resulting in death by the age of four years.
Recent research has revealed that this entity exists in some flocks of Jacob sheep.
In the summer of 2008, Dr. Porter delivered stunning news to the Horaks... the lysosomal disease found was exactly the same form as a lysosomal disease fatal to human children: Tay-Sachs disease. An abstract was presented at the American College of Veterinary Pathologists Natural Disease Specialty Group on November 16, 2008 which Fred Horak submitted for dissemination in the January/February 2009 American Livestock Breeds Conservency Newsletter.
....The mutation consisted of a single nucleotide change ("point mutation") at the end of exon 11, resulting in defective transcription and translation of its enzyme protein product. The model of Tay-Sachs disease provided by the Jacob sheep is the first to offer promise as a means for clinical trials of gene therapies which may eventually prove to be useful in the treatment of the disease in humans.[30]
Bai Zeng and Paola Torres of the Department of Neurology at New York University School of Medicine examined DNA samples of 443 Jacobs from various flocks within the United States. 51 of these specimens were identified as carriers of the G444R mutation (a carrier incidence of 11%); 90% of the flocks were found to have one or more mutation carriers.[32] Either Jacob parent can carry the mutant autosomal recessive gene. Carriers appear normal and live a normal life.[32] Turner 183K, a bloodline foundation ram and the apparent source of the mutation in North America, was born of imported Jacobs.
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2. "Great Surprise" Native Americans Have West Eurasian Origins
Oldest human genome reveals less of an East Asian ancestry than thought.
By Brian Handwerk, National Geographic
http://news.nationalgeographic.com/news/2013/11/131120-science-native-american-people-migration-siberia-genetics/
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3. Druze Connection to Ashkenazi Jews.
Warning: Reported finds have been disputed.
How we solved the 1,000-year-old mystery of the Druze people's origin, with a genetic Sat Nav
November 16, 2016 by Eran Elhaik, The Conversation
http://phys.org/news/2016-11-year-old-mystery-druze-people-genetic.html
Extracts:
There are more than a million Druze worldwide, with the vast majority residing in the Middle East.
For a thousand years, the mysterious origin of the Druze people, who live almost exclusively in the mountains of Syria, Lebanon and Israel, has captivated linguists, historians, and sociologists, who have not been able to agree whether the Druze are of Arabian, Turkish, Caucasus or Persian origin. But thanks to our new research that mystery may now have been solved, with the use of a genetic GPS system, that works in a similar way to the Sat Nav in your car.
There are thought to be around 1m Druze people in the world today, whose secretive religion was developed in 986 AD as a movement within Islam. While the spiritual elements of their religion are highly guarded and known only to the elders, the known practices are made up of various religions which include Hinduism, Christianity, Islam and Judaism. This variety is most likely based on historical gatherings that are typical of nomadic tribes.
Previous research has always placed the origins of the Druze in the the Near East region. And by zooming in on the area, our genetic GPS traced most Druze to the region that overlaps northeast Turkey, southwest Armenia and northern Iraq. This area borders the Zagros and the Ararat mountains and is the tallest region in Turkey.
It is thought that the first Druze worshippers probably lived in Cairo, where Druzism was adopted by Al-Hakim bi-Amr Allah who ruled in Egypt and the eastern Mediterranean, known as the Levant, between 996 and 1021. But after his sudden disappearance, his successor prosecuted the Druze ruthlessly and abolished the faith in Egypt. By that time, however, the faith had already spread outside Egypt and become accepted among several Levantine groups.
The Druze were first recorded by the 12th century Jewish traveller Benjamin of Tudela who described them as fearless, mountain-dwelling warriors who favoured the Jews. And by that time, because of earlier persecutions, their faith was closed to new followers and they opposed marriage outside of the Druze faith.
The remote mountainous regions provided the Druze with protection and allowed them to maintain the close societal structure that is integral to their religious practices. Like other Caucasus populations, the Druze may even be genetically adapted to cope with the thinner mountain air allowing them to live comfortably in these remote parts.
Druze meet the Jews
Though the Druze have previously been considered to have little genetic mixing, known as a "population isolate" by some geneticists, this is actually incorrect. And in fact by exchanging their diverse Near Eastern genes with Middle Eastern populations, such as Syrians and Palestinians, the Druze people created a more mixed genome than their ancestors, or other Middle Eastern populations.
Genetic evidence also suggests that over the years non-Druze tribes and individuals have contributed and enriched the Druze gene pool.
Previous research has also shown that Ashkenazic Jews and Druze are genetically closer to one another than Middle Eastern populations, but until now, it was not clear why. Combined with our earlier research showing the northeastern Turkish origins of Ashkenazic Jews, we can explain that genetic similarity via the shared origin of Ashkenazic Jews and Druze. Medieval Ashkenazic Jews lived in ancient villages in northeast Turkey known as "ancient Ashkenaz" - which was close to the mountainous homeland of the Druze.
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4. DNA Links Prove Jews Are a 'Race,' Says Genetics Expert
Jon Entine May 07, 2012 10:51 AM
Extract:
http://www.haaretz.com/jewish/news/dna-links-prove-jews-are-a-race-says-genetics-expert-1.428664
Ostrer has devoted his career to investigating these extended family trees, which help explain the genetic basis of common and rare disorders. Today, Jews remain identifiable in large measure by the 40 or so diseases we disproportionately carry, the inescapable consequence of inbreeding. He traces the fascinating history of numerous 'Jewish diseases,' such as Tay-Sachs, Gaucher, Niemann-Pick, Mucolipidosis IV, as well as breast and ovarian cancer.
Ostrer has devoted his career to investigating these extended family trees, which help explain the genetic basis of common and rare disorders. Today, Jews remain identifiable in large measure by the 40 or so diseases we disproportionately carry, the inescapable consequence of inbreeding. He traces the fascinating history of numerous 'Jewish diseases,' such as Tay-Sachs, Gaucher, Niemann-Pick, Mucolipidosis IV, as well as breast and ovarian cancer.
Although Jews make up less than 3% of the population, they have won more than 25% of the Nobel Prizes awarded to American scientists since 1950. Jews also account for 20% of this country's chief executives and make up 22% of Ivy League students. Psychologists and educational researchers have pegged their average IQ at 107.5 to 115, with their verbal IQ at more than 120, a stunning standard deviation above the average of 100 found in those of European ancestry.
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5. DNA Changes During Lifetime?
If humans were immortal, would there be a certain point in their lives that their DNA no longer matches their birth DNA?
https://www.quora.com/If-humans-were-immortal-would-there-be-a-certain-point-in-their-lives-that-their-DNA-no-longer-matches-their-birth-DNA/answer/Pat-Harkin
Pat Harkin
Yes - and it happens pretty much immediately without any need to invoke immortality. By the time a baby is born, its DNA differs from its conception DNA at about 20 bases - 'identical twins' aren't quite identical!
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6. Half of Western European men descended from one Bronze Age 'king'
http://www.telegraph.co.uk/science/2016/04/25/half-of-british-men-descended-from-one-bronze-age-king/
 Sarah Knapton, science editor
25 APRIL 2016 - 6:14PM
Extracts:
Half of Western European men are descended from one Bronze Age 'king' who sired a dynasty of elite nobles which spread throughout Europe, a new study has shown.
The monarch, who lived around 4,000 years ago, is likely to have been one of the earliest chieftains to take power in the continent.
Although it is not known who he was, or where he lived, scientists say he must have existed because of genetic variation in today's European populations.
Dr Chris Tyler-Smith, from the Wellcome Trust Sanger Institute, said: 'One of the most novel and exciting things we have found in the study is the extraordinary explosion in numbers of males at specific times.'
'In Europe there was huge population expansion in just a few generations. Genetics can't tell us why it happened but we know that a tiny number of elite males were controlling reproduction and dominating the population.'
'Half of the Western European population is descended from just one man. We can only speculate as to what happened.....'
The study analysed sequence differences between the Y chromosomes of more than 1200 men from 26 populations around the world using data generated by the 1000 Genomes Project.
The Y chromosome is only passed from father to son and so is wholly linked to male characteristics and behaviours. Mutations reveal which are related to each other and how far apart they are genetically so that researchers can build a family tree.
Dr Yali Xue, lead author from the Wellcome Trust Sanger Institute, explained: 'This pattern tells us that there was an explosive increase in the number of men carrying a certain type of Y chromosome, within just a few generations.'
'We only observed this phenomenon in males, and only in a few groups of men.'
The most intriguing and novel finding was that some parts of the tree were more like a bush than a tree, with many branches originating at the same point.
The research was published in the journal Nature Genetics.
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7. Early North French DNA Connection with English
(a) Genetic study reveals 30% of white British DNA has German ancestry
https://www.theguardian.com/science/2015/mar/18/genetic-study-30-percent-white-british-dna-german-ancestry
People living in southern and central England today typically share about 40% of their DNA with the French, 11% with the Danes and 9% with the Belgians, the study of more than 2,000 people found. The French contribution was not linked to the Norman invasion of 1066, however, but a previously unknown wave of migration to Britain some time after then end of the last Ice Age nearly 10,000 years ago.
(b) People of the British Isles
http://www.peopleofthebritishisles.org/nl6.pdf
The most intriguing European contribution is that from Northern France, (EU17 red). This clearly post- dates the original settlers since it is entirely absent from the Welsh samples. It is, however, widespread elsewhere, even right through the north of England and Scotland to Orkney. It is also especially prevalent in Cornwall and Devon. These results suggest a previously not described substantial migration across the channel after the original post-ice-age settlers but before Roman times. DNA from these migrants spread across England, Scotland, and Northern Ireland, but had little, if any, impact on Wales .
 It is probably the biggest single contributor to DNA now in England and much of Scotland, but it has had no impact on Wales. It must have occurred later than the earliest migrations, because unlike those ones the DNA hasn't spread everywhere. But it doesn' t match any of the migrations we know from history.
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8. Conversion table for Y chromosome haplogroups
https://en.wikipedia.org/wiki/Conversion_table_for_Y_chromosome_haplogroups
From Wikipedia, the free encyclopedia
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9. Yair Davidiy and the Tribe of Dan in Britain?
Yair Davidiy is evidently R1b1c7 also known as M222.
This is the Y haplogroup associated with the Galli who once ruled over most of Ireland and part of Scotland.
They are often linked to the descendants of Nial since families with traditions of descent from
Nial usually belong to this haplogroup. The main concentrations of this
group is in Ireland (especially the northwest) and southwest Scotland.
There are less M222 in England, but they are considered to be of older types.
 This indicates that the ancestors of them all came from the area now known as England.
The ones in England may have descended from immigrants who came from France or else a
few of them went to France at an early date.
The ancestor of them all may have been one male who lived in England at about
1BCE-1CE. Some 400-500 years later another single male gave rise to the M222
in Ireland and Scotland.
There are four regional areas of historical concentration of M222 [not U'Nial but perhaps ancestral to them] or its
immediate forebears:
(a) South West England, or Devon,
(b) Central/ South West Scotland,
(c) West area of Northern Ireland.
(d) Midlands/South East Ireland.
We find one group, the Dumnonii (Fir Domnann, or Laigin) associated with all
these areas.
The Connachata emerged from the Dumnonii and the U-Nial (sons of Nial) came
from the Connachta.
The problem with this is that the Damnonni were recorded by Ptolemy in
southwest England and the Damnonni in Scotland.
Ptolemy lived c. 90 c. 168 CE. He is believed to have used sources from
previous centuries. At all events the Dumnonii and Damnonni were already a
well-developed entity in his time. Other names associated with this group
are Danonni and Defene.
Defene links to Daphne which in the Upper Galilee was another name for Dan.
How reliable is all this?
Does this indicate that Yair Davidiy belongs to Dan??
Or Judah within Dan?
Or Something Else?
See Also:
Origins of the Irish, Scottish, Welsh and English R1b-M222 population
Anatole A. Klyosov and Paul M. Conroy
https://www.academia.edu/8010655/Origins_of_the_Irish_Scottish_Welsh_and_English_R1b-M222_population