Transcript Our DNA - WordPress.com

Since some of us may not remember
much of our high school biology, a little
“re-teaching” is in order before we
begin.
people.howstuffworks.com/culture-traditions/genealogy/use-dna-testing-genealogy-research.htm
Where is our DNA located?
There are two locations where
DNA is found and both are of
interest to genetic
genealogists. Most of our DNA
is found in the nucleus of the
cell. It doesn’t matter if the cell
is on your skin, in your liver, or
lining the inside of your mouth.
Our personal DNA is inside the
nucleus of all types of cells.
Another location is in the
mitochondria (mitochondrion
is singular) found within our
cells which are the “power
supplies” providing our cells
energy. This DNA is called
mitochondrial DNA and is
generally referred to as
mtDNA.
http://biology-pictures.blogspot.com/2011/08/animal-cell-diagram.html
Raymond had both types
tested and each told a different
story. His cells that were
tested came from the inside of
his cheek.
With the exception of egg and sperm cells, humans
have 23 pairs of chromosomes within the nucleus
of our cells for a total of 46. When looked at under
a microscope, they have somewhat of an X shape.
One pair, referred to as pair 23, is structured
differently based upon the sex of the person. In
females, both are shaped like an X whereas males
have one X and the other appears like a small Y.
Eggs and sperms are each formed using one
random unit from each pair. Because in females
pair 23 has two X chromosomes, females can only
add an X to the next generation but a male can
provide an X or a Y. The presence of the Y causes
the organism to be male.
Each of the 46 chromosomes is made of a very
long, single strand of DNA (deoxyribonucleic acid).
www.accessexcellence.org/RC/VL/GG/human.php
Parts of this continuous strand are identified as molecular units called genes. Genes are the parts
between noncoding or “junk DNA” that provide the instructions for the development and
functioning of your unique body.
Amazingly, all humans have DNA that is about 99.9% the same. This means that any two humans
on earth have DNA that varies by less than 1/10 of 1%. Looking at the variations between all the
people you know, it becomes obvious how important that small difference is.
Fertilization
The egg, with its 23 chromosomes,
does not contain just DNA in the
nucleus of the egg cell. The egg also
contains mitochondria which contain
DNA that possesses a completely
different DNA composition from that
found in the 23 chromosomes.
The sperm also contains 23 random
chromosomes, one from each pair
but pair 23 may have provided any
given sperm with either an X or Y
chromosome. Within the tail of the
sperm are a few mitochondria, but
they evidently do not make it into the
egg at fertilization.
www.webmd.com
When the egg and sperm combine, a new human is produced with the standard 46 chromosomes. If it is
a male, the nucleus will contain the Y DNA unchanged from the father. Because no mitochondria came
from the sperm, all the mitochondria will be from the mother.
Two examples for clarification:
Raymond will have a copy of Adrian’s Y DNA information in the nucleus of his cells but Reggie, since she
is female, will not have inherited Adrian’s Y chromosome. But they would have exactly the same DNA in
their mitochondria.
Raymond and his son, Keith, will have exactly the same Y DNA as Adrian but Keith will not have the same
mtDNA as Raymond since they had different mothers.
http://dna-explained.com
Y DNA follows from father to father back through time and the mt DNA follows mother to mother. Of
course, you have lots and lots of genetic material that has come down through all your other family
lines, but none of those come to you “tied in a neat, discrete bundle” to study as do the two
mentioned above.
It should be obvious why Raymond was chosen to provide the sample since he carried both the Y
DNA and the mitochondrial DNA. Had one of his sisters been tested, only the female line could have
been followed since none of his sisters has a Y chromosome!
www.bbc.co.uk/schools/gcsebitesize/science/ocr_gateway_pre_2011/ourselves/6_gene_control1.shtml
So what is DNA?
The entire DNA double helix is made up of four nucleobases (biological compounds) that bond or join
together in very specific ways. These bases are called cytosine (abbreviated C), guanine (G), adenine
(A), and thymine (T). C always bonds with G and A always bonds with T forming base pairs. Notice this
in the diagram above.
Sometimes an accidental change occurs in the pattern of our DNA. Maybe a C-G bond reverses itself
and became a G-C bond. Maybe it gets left out, or a combination (for instance A-T) gets added. These
are called mutations (polymorphisms) and are not reversible by the cell. Mutations can be harmful,
beneficial or neutral. These changes get passed down to following generations whether we want them
or not.
Scientists have found that neutral mutations are of most interest to genetic genealogy because these
changes occur at a steady rate, providing us with a “molecular clock.” A similar nonliving molecular
clock can be found in radioactive atoms, for instance carbon 14 breaking down into carbon 12.
Because of the
advances in
understanding our DNA,
science can now help
us explore our ancestry.
In fact, the organization
Daughters of the
American Revolution is
considering allowing
DNA evidence to be
used as proof for
joining their very
conservative
organization.
http://news.nationalgeographic.com/news/bigphotos/5940588.html
The most common test
used by those
interested in genealogy
looks at samples from
the Y chromosome and
is referred to as Y DNA.
Since the Y chromosome for all humans comes only from the father, the DNA found in that chromosome
is a direct link up the male side of a family (and therefore a surname). The information in Raymond’s Y
DNA is the same as his dad’s as well has ALL his male Fortenberry cousins, uncles, and any other male
in the direct line. For instance, David Faulkenberry, a many times great uncle who fought in the
Revolutionary War and was a brother of our ancestor should have male descendants with the same Y
DNA as Raymond. Way cool!
Let’s look at Raymond’s results!
If you look in the first column you will see kit numbers. These refer to the specific DNA samples provided
by male individuals. Raymond is kit number 306703, and everyone in this particular group falls into
haplogroup R which has been further divided into smaller groups. Raymond’s specific part of that
haplogroup is R1b1a2 which has been given the designation R-M269. R-M269 is a single mutation on one
specific place on the Y chromosome found in ALL men in haplogroup R1b1a2. A haplogroup is like a
huge group of people across the world that have specific, accumulated neutral mutations common to the
group. R1b is the most common haplogroup for men of European descent. See:
http://en.wikipedia.org/wiki/Haplogroup_R1b_(Y-DNA)
Paternal Ancestor Name is the name of the ancestor furthest back in time that the donor wanted listed.
The first name of the person that provided the DNA is not shown.
Now the hard part! What do all the numbers mean?
Notice in the column called kit number –MIN, MAX, and MODE. This refers to the minimum value,
maximum value, and average value to be considered a related group. Generally, the more numbers
that are the same from one person to another, the more closely related they are. Just remember that
we are not necessarily talking first cousins here nor even within 100 years!
In 2004, a Fortenberry DNA Project was begun by a gentleman named Randall Fortenberry from
Walla Walla, Washington. The purpose of the project was to prove or disprove genetically the
connection between the surnames Fortenberry, Fortinberry, Falconberry, Falkenberry,
Faulkenberry, Faulkenburg, Falkenberg, and any other variation of the spelling. This information is
online through Family Tree DNA at
www.familytreedna.com/public/fortenberrydna/
Though we learned from “paper” research that our Fortenberry name was originally Faulkenberry
and before that Falkenburg, it is really wonderful to have a way to definitely, irrefutably prove it!
Above is a small portion of the information on the site that is of most interest to us. It took me
quite a while to understand it, so please be patient as I attempt to walk you through it!
Haplogroup P
This map shows the movement of people and the
development of the different haplogroups. While
in central Asia, Haplogroup P split to form
Haplogroup R that moved westward while
Haplogroup Q moved further east and into the
Americas.
World map of most Haplogroups
Raymond’s R1b is the most common Western European haplogroup and is
shown in bright red.
Geneticists have determined that
haplogroup R1b, a subclade
(subgroup) of R, arose around 30,000
years ago. The man who was the
“founding father” of this group with the
R1b marker was a direct descendant of
the Cro-Magnon people of Europe who
were the well documented cave
painters.
http://www.eupedia.com/europe/origins_haplogroups_europe.shtml#R1b
Map of only Haplogroup R1b
http://en.wikipedia.org/wiki/Cro-Magnon
Notice the vertical letters and numbers running across the top of the chart above the red line. Each is a
tested location or marker on the Y-chromosome that has a potential for some variation from person to
person. The first one listed is DYS 393. It refers to a specific location on the Y chromosome that is
noncoding or “junk DNA” that over very long periods of time accumulates neutral mutations. These areas
are called Y-STR markers. This is short for Y chromosome Short Tandem Repeats or points on the DNA
where a short series of DNA code repeats. I know – this is getting confusing – stay with me!
At location DYS 393, the repeated part has been identified as a “short, stuck together (Tandem) repeat” of
AGAT (adenine, guanine, adenine, thymine). All men ever tested have between 9 and 17 repeats at this
location. Someone with 9 repeats would have AGATAGATAGATAGATAGATAGATAGATAGATAGAT.
Raymond and most of the others in the list have a repeat of the AGAT 13 times. The maximum value
acceptable for this group can be 14 and there are two Fortenberry men that tested a 14 at this location.
Every one of the different markers listed across the top is looking at repeating segments located in
specific places on the Y chromosome, all with a specific varying range of repeats at that location.
There are various levels of testing one can have done based on the amount of money one is willing
to spend. For Raymond, we requested a 37 marker test. The beginning level test looks at 12
markers and on the previous slide, two people within Raymond’s group requested that level. Two
also requested 24. This is why some rows of numbers on the previous slide are not totally filled.
In order to understand the significance of the matching numbers, below are Raymond’s first 12 of
the 37 tested markers followed by 3 random people on public DNA sites with last names of Smith,
Jones, and Simmons. The number of repeating segments have been lined up in a column. None of
the other men matches Raymond more than 4 times out of 12.
13
24
14
11
11-14
12
12
13
13
13
29
Someone named Smith
11
21
15
10
17-17
11
12
12
13
11
31
Someone named Jones
13
25
15
10
11-14
12
10
11
13
11
30
13
23
15
11
11-15
12
10
12
14
13
30
Raymond
Someone named Simmons
To the right are the 15 men grouped together
with Raymond on the Fortenberry DNA site.
When looking at the first 12 markers, it
becomes obvious that their DNA is, in most
cases, identical. Those not exactly the same
are off by one number and are within the
acceptable maximum for the group.
If you go to the website and choose Y – DNA Results from the top, you can view the results for
everyone in the project, not just Raymond’s group.
http://www.familytreedna.com/public/fortenberrydna/
There are four men that match Raymond’s markers at ALL 37 locations he had tested. They are,
without a doubt kin. One sample is from a direct descendant of the Revolutionary soldier mentioned
earlier – David Faulkenberry, and I would like to digress a little. He is our g-g-g-g-g-uncle. It is
absolutely amazing that after 250 years, the Y-DNA can be a perfect match!
David Faulkenberry’s son, Jacob, requested a pension for his
father’s time in service for the American colonies. A transcript
of the original petition can be found in the Fortenberry book on
pages 359-361. The Battle of Hanging Rock was one in which he
participated. Pay special attention to the wounds he received. If
you do not have a book, the first part of the document can also
be found at this website:
http://revwarapps.org/s3350.pdf
With me in the picture for
scale, it is easy to see
why the area is called
Hanging Rock. The
whole area is full of
strange, overhanging
and precariously situated
rocks!
This battle took place less than 15 miles from the area where
the many Fortenberry families of Lancaster County, South
Carolina were living during the Revolutionary War.
Back to the DNA!
Family Tree DNA provides a prediction for number of generations back to a common ancestor. Gene
Faulkenberry’s direct ancestor was David Faulkenberry, the Revolutionary soldier. Since David
Faulkenberry and our ancestor, John Fortenberry were brothers, we can count back to the common
ancestor ( their father, Jacob Faulkenburg born about 1715) which is seven generations. Looking at
the prediction of a common ancestor on the chart below, Family Tree DNA gives as estimate of
95.73%. Pretty cool!
Take a look at the last names of the men tested in Raymond’s group. There are surnames listed we
have known are just different spellings for the same name. Fortenberry, Faulkenberry, and
Falconberry are all obviously similar.
Two interesting facts about those names: While doing research in Lancaster County, South Carolina
for the Fortenberry book, the Faulkenberry family members we interviewed said they pronounced
Faulkenberry as Fortenberry! We also found a deposition in the court records of Newton County,
Georgia that really brought this home. In this 1850 document, John, born in 1769, stated “I thought
my name was Faulkenborough but now currently called Fortenberry … I am called Fortenberry
Forkberry & I answer to all of them.” In this ONE record his name is spelled Falkenberry, Forkbery,
Fortenberry, Forkenbery, and Faulkenborough.
Within Raymond’s group, one name truly
stands out as different – Andries van
Valkenburg. At first glance, it seems like
an impossible connection. Andries lived
in the Netherlands and was born about
1540. With the DNA evidence, it
becomes obvious that we are related.
The question is HOW! The explanation
and probable answer will have to be
given at another time since it is a very
complex problem.
As a teaser, please go to the following site, choose
Dutch, Lotte as your voice from the pull down menu
and type in Van Valkenburg and press play. If you
know anything about Germanic languages, you may
suspect what you will hear!
http://www.ivona.com/us/
Raymond,
Thank you for your DNA sample!
Raymond born 1945, NY
Adrian born 1918, MS
Ferman born 1886, MS
William Jasper born about 1772, SC
John Faulkenberry born 1740, Virginia
Jacob Falkenberg born about 1715
Following is our probable line due to court
records and Y DNA evidence.
Hendrick Falkenberg born about 1680
Hendrick Jacobs Falkenberg born about 1645
Lambert Van Valkenburg born about 1614 in the
Netherlands, emigrated to the colonies died in
Albany, NY
Lambert Dryskens Van Valkenberg born about
1570 in the Netherlands
Andries Van Valkenburg born about 1540 in the
Netherlands
Burrel born 1820, MS
Wm. Jackson born 1853, MS
As mentioned before, mitochondria are small
structures within our cells that provide, through
chemical reactions, the energy necessary for
cell function. Our mitochondria have specific
DNA totally different in composition from the 23
pair found in the nucleus of the cells. The
unfertilized egg contains mitochondria from the
female and at fertilization, the few mitochondria
in the tail of the sperm do not make it into the
egg. Consequently, the only mtDNA in a
fertilized egg is from the mother. This means
everyone has mtDNA that follows a female line
from mother to mother back through their own
family tree. This means that the surname of the
“donor” changes every generation.
Notice that the image of the mtDNA shows it
as a circular structure.
Genetic genealogists often focus only on the YDNA since it follows a family name; and because
of this, many more people have had their Y-DNA
tested than mtDNA. Because Wanda Werbicki
was 100% Polish and the child of two Polish
immigrants, the decision was made to see what
information we could learn.
The mtDNA Raymond inherited from the direct line of our Polish ancestry is
Haplogroup J.
As with the Y DNA, haplogroups are organized groups according to the location of mutations
(polymorphisms) and have similar alphabetic designations. When researching mtDNA, one has
to be careful that the information is about mtDNA and not Y-DNA. Not as much research has
been done on mtDNA as related to genetic genealogy.
So who in the family would actually have mtDNA Haplogroup J? Remember, it follows the female line
only.
Raymond – but not his children.
Reggie and all her children, also the children of Cindy and Deborah
Andie, her daughters and Jenny’s boys (but will not continue with their children)
Terry, her children and any children of her daughters
Linda, her children and grandson, Jack
Barbara
Haplogroup J is
shown in Yellow
Haplogroup J first appeared 40,000 years ago and is considered one of the main genetic groups
of the Neolithic (new Stone Age) expansion. It has been determined that they originated in the
Fertile Crescent (today Turkey and Syria) and were probably the first people to begin
domesticating plants, nuts, and seeds which provided a reliable food supply leading to the ability
to support larger populations. Essentially, geneticists think Haplogroup J carried agriculture into
Western Europe which allowed the means for the development of complex societies.
mtDNA haplogroup J originally belonged to a
macrogroup with a designation of JT. Because the
“founding mother” gave rise to both groups, they
share a similar mutation (T16126C) that all their
descendents have in their mitochondria.
A very interesting side story about using mtDNA to solve an old mystery!
By using mtDNA testing, it has been
irrefutably proven that the entire
Romanov family was killed in July of
1918. No, Anastasia did not escape the
fate of the rest of her family. Scientists
were able to get DNA samples from the
bones found in two graves in the area
thought to have been the burial sites for
the family. The question was – with
whom could they compare the samples.
Prince Philip, husband of Queen
Elizabeth of England provided the DNA
sample. He and Alexandra Fyodorovna,
wife of Nicholas Romanov, both
descended from the same female line.
Prince Philip is the grandson of
Alexandra’s older sister, Victoria.
Because of this direct female connection,
Alexandra and all of her children would
have the same mtDNA as Prince Philip.
Below are two links to read more about
this interesting story.
The Romanov Family
http://www.isogg.org/famousdna.htm
http://genetics.thetech.org/original_news/news108
Unlike the large Y DNA that contains almost 60 million base pairs, the circular shaped mtDNA
contains just under 16,600 base pairs. There are two areas of the circular mtDNA that are the
areas studied for genealogy. They are areas in the non-coding (junk DNA) geneticists call HVR1
and HVR 2. HVR means Highly Variable Region. HVR1 locations are numbered 16001-16568.
HVR2 locations are numbered 001-574. These regions will show mutations that have been
passed down from mother to mother.
http://www.genebase.com/learning/article/19
Raymond’s mutations!
Above are the specific mutations in our mtDNA. The C, T, A, and G, once again, refer to cytosine,
thymine, adenine, and guanine that make up the paired nucleobases. The first one, C16069T means at
that exact position on the DNA, instead of a C-G normally in that position we have a T-A bond.
Other people in the world having similar mutations are more closely related to us than those who do
not. The more common the mutations are between individuals, the closer the relationship. Only we are
talking deep time here! “Closely related” on our test means within 28 generations or 700 years.
Though we did not have the entire mtDNA sequenced, I have been able to determine a more specific
part of haplogroup J from information online. Within Raymond’s results are a few clues. Through
further research about our mutations, I learned:
The two major “defining mutations” of haplogroup J are C16069T and C295T.
Haplogroup J is subdivided into J1 and J2. Defining mutations for J2 are C150T, C152T, and C195T.
J2 can be divided into J2a and J2b. The defining mutation for J2b is C16193T
That gets us to Haplogroup J2b. According to current research, J2b makes up a very small percent
of the entire J group. Looking at the figures for only Europe, the population contains under 1% of
our particular mtDNA J2.
Raymond’s mutations!
A couple of explanations: Notice that in four places, Raymond has a mutation site that contains a
decimal. This means that at that specific location (such as 309), his mutation is the insertion (addition)
of an extra base pair. So, in addition to the usual bond at 309, we have an extra one containing a
cytosine/guanine pair. At location 522, he has two extra base pairs.
He also has an anomaly identified at site 385 that should be an A-T bond. Instead, his mitochondria did
not read the same A-T bond but had mixed data at this site. Evidently, this begins to occur as we age,
is nothing to worry about, and is called heteroplasmy. His cells are making their own, minor
mutations.
By looking on internet databases, I have found two people with mtDNA almost identical to Raymond’s.
It should not be surprising that both are from individuals living in Russia. I will be looking for more
“relatives.” From their data, it appears that we are not just J2b but J2b1a. I know that made your day!
242926
Эсман Клавдия 1870-1900
J2b1a
C16069T, T16126C, A16129G, T16187C,
C16189T, C16193T, T16223C, G16230A,
C16311T
C146T, C150T, C152T, C195T, A247G,
C295T, T489C, 522.1A, 522.2C, 309.1C,
315.1C
209609
Fedosiya Timofeevna Ievleva,
b.1820, Ryazan region
J2b1a
C16069T, T16126C, A16129G, T16187C,
C16189T, C16193T, T16223C, G16230A,
C16311T
C146T, C150T, C152T, T154C, C195T,
A214G, A247G, C295T, T489C, 522.1A,
522.2C, 309.1C, 315.1C
Wanda Wierzbicka
born 1921
Pelagia Jaroszewska
born 1898
Franciszka Goryszewska
Born about 1825
Because of the lack of records in Poland, it
is not likely that further “grandmothers” will
be located. It has only been in the past few
months as I have tried to read old Polish
Catholic Church records that the surnames
of Jablonska and Goryszewska have been
added to our knowledge about the family!
Franciszka Jablonska
born about 1850
Antonina Cybulska
born 1873
Final comments and thoughts
1. If you are interested in learning more about the specific haplogroups and sub-clades, please
follow the links provided in this document or Google the topics.
2. It would be really interesting to locate other men (surnames) in our family tree to test. Examples
might be direct male descendants of William Eli Simmons, John Martin Covington, John Ellzey, Fleet
Magee, and Asa Washburn, just to name a few.
3. It would even be possible to determine more mtDNA origins by locating direct female
descendents of Canolia Simmons, Elizabeth Covington, Eliza Jane Ellzey, or other mothers in our
line.
4. Genetic genealogy is an emerging field of study and as scientists learn more, the knowledge will
be expanded. Take a look at the National Geographic sponsored Genographic Project that has
done more than any other organization to collect and decipher the genetic information from many
people including indigenous groups around the world. https://genographic.nationalgeographic.com/
5. Though not directly kin, the Gypsies of Poland (Roma Polska) have one of the largest groups (by
percent) of mtDNA J. Many of them are members of J1, while we are more closely related to people
with the J2 mutations. Wanda would have liked being related to them; whereas her mother, Pauline,
would not. A hundred years ago in the small villages of Poland, children were taught to fear the
Roma culture and believed they would steal children from families. It is amazing how our
perceptions change with knowledge.
6. Of course, our DNA is much more complex than these two lines discussed here. Our DNA is a
mixing of all our many great …. Grandparents that came before us! One fact we cannot avoid
accepting - we are a product of those who came before us.
Anonymous