Genetics

GENETIC GENEALOGY

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the Knowles Surname DNA Project

The unraveling of the double-helix DNA structure was first accomplished just over 50 years ago (April 1953) by scientists James Watson and Francis Crick. They received a Nobel Prize in 1962 for their monumental legacy. Subsequent decoding of the biological blueprint to life has led to breakthroughs in crime investigation, medicine and genealogy. YES, GENEALOGY!

Most of us are now quite familiar with forensic scientists demonstrating the value of DNA in solving crimes. DNA analysis has also been vital in verifying paternity, indicating the likelihood of inheriting life-threatening or disabling diseases, as well as responsible for break-troughs in medical research. The same technology can now also be used by family historians to make physical connections with their ancestors, not by having centuries-old relatives exhumed, but by a simple comparative analysis of cheek cells from living descendants of our ancestors.

Family historians often find themselves 'hitting the wall', after thoroughly researching every known and available genealogical record. Researchers may find they are unable to verify genetic links to ancestors, especially when the ancestors in question emigrated from overseas several centuries ago. Records may be incomplete, destroyed or lost. In many cases, our ancestors lives may not have been well documented. Nuances in surname creation and spelling of the surname down through the years may have caused confusion and lost genealogical trails. And finally, oral family histories that we depend on in some cases may be faulty.

In some cases, no matter how much effort, time and money are put into a family history project, the research results in a 'dead end'. Many researchers give up at this point or perhaps wait for dozens of years hoping a missing piece of documentation will show up. Now, thanks to advances in genetic science, the walls are beginning to crack as genealogists turn to DNA analysis to develop confirmed links with their ancestors.

Genetics testing is the greatest new tool available to genealogists since the creation of the Family Tree! After all, DNA is the Gene in Genealogy!

Recently, it has become increasingly apparent that we are all related, and I don't mean just those of us with the same surname in our family tree. The question is not are we related; but how far back in time is our common ancestor. Some day, the science of genetics is going to use our DNA to help structure our basic family tree far beyond what we can do with standard generational research using historical documentation. For our purposes today, DNA testing can already tell us if one Knowles descendant is related to another Knowles descendant via Y-chromosome testing.

To learn more about the wonderful new world of genetics testing in support of genealogy, please read on. A number of links have been provided below to help you understand why genetics testing is rapidly becoming a great tool for genealogists, to tell you everything you ever wanted to know about genetics and genetics testing, as well as how to participate the Knowles Surname DNA Project.

GENEALOGY and DNA

For family historians there are two major areas of interest in DNA:

Anthropological - the study of the earliest history of man and woman through the long term mutations of our DNA (think thousands of years).
Genealogical - the study of recent DNA changes to help find genealogical connections (think hundreds of years)

Although these are independent studies, they are both of interest to us as family historians. We would all like to know where our ancient ancestors came from as well as finding and/or confirming connections to cousins.

The difference between these two study groups of DNA derive from two kinds of mutations that occur in a person's DNA that take place over the short and long term.

The two types of mutations are:

SNPs - Single Nucleotide Polymorphisms (called 'Snips')
STRs - Short Tandem Repeats

'Snips' are very rare occurrences of a change in a single chemical base (1 out of 3 billion). Such changes at a specific location have occurred only once in the history of modern humans. These very rare mutations permit scientists to map and place a time frame on the early human migrations out of Africa. Once a 'snip' has occurred, it's passed on the all subsequent generations.

STRs are lengths of DNA with repetitious sequences of the chemical bases. Although these mutations are relatively rare they occur much faster than 'snips'. The STRs on the male Y-chromosome permit the tracking of living descendants of a common ancestor who lived within the past 300 to 600 years.

What are Chromosomes ?

Chromosomes are paired threadlike �packages� of long segments of DNA contained within the nucleus of each living cell. In humans, there are 23 pairs of chromosomes. In 22 of the pairs, both members are essentially identical in structure, one deriving from the individual�s mother, the other from the father. The 23rd pair is different. In females, the 23rd pair has two like chromosomes called �X�. In males, the 23rd is comprised of one 'X' and one 'Y'; two very dissimilar chromosomes. It is these differences in chromosome 23 that determines the sex of an individual at conception.

Types of DNA

Autosomal DNA (atDNA) - The autosomal DNA is the portion of the DNA in the nucleus of all of our cells that contains all the information and instructions which determine our individual genetic identity. Our autosomal DNA is the random combination of all the genetic information passed down to us from all of our direct line ancestors (male and female). Autosomal DNA is contained in the two sets of chromosomes in the nucleus of all of our cells. These are the chromosomes that determine our unique identity and appearance. We receive these chromosomes from our mother and father (one set from each one). There are 44 autosomal chromosomes arranged in 22 pairs numbered 1-22 from the largest (#1) to the smallest (#22). Autosomal genetic markers are used for the typical paternity tests and individual identify tests in the forensic field, but not typically used for genealogy research.

Y-Chromosome DNA (Y-DNA) - The Y-chromosome, the smallest chromosome is one of the 23rd chromosomes also found in the nucleus of our cells. The Y-chromosome is found only in males. It is one of the sex determining chromosomes (the other being the X-chromosome). The Y-chromosome is passed from a father to a child via a sperm cell which contains the Y-chromosome of the father. The sperm cell having a Y-chromosome determines that the child will be a male. Thus only males have the Y-chromosome and only males can pass along the Y-chromosome from father to sons. Y-DNA markers are used in surname DNA projects to establish the Y-chromosome profile for a particular direct male line represented by the surname.

X-Chromosome DNA (X-DNA) - The X-chromosome is the other of the two smallest chromosomes in the nucleus of our cells, known as the sex determining chromosomes. Males have one X-chromosome and one Y-chromosome. If the father passes on his X-chromosome via his sperm, the resulting child will have two X-chromosomes, one from the child's mother and and the other from the child's father. In such cases the child will be a female. The X-chromosomes when paired in females also interchange genetic information via cross-over effects similar to what happens with the autosomal chromosomes. Thus after just a few generations it is very difficult to track the ancestry of a particular X-chromosome's genetic markers. Therefore testing of the X-chromosome is not typically used for genealogical projects except in some family reconstruction analysis cases involving only a couple of generations.

Mitochondrial DNA (mtDNA) - Mitochondrial DNA is a non-nuclear DNA (DNA not contained in the nucleus of a cell). mtDNA is a small molecule contained in the Mitochondria organelles which are located inside of the cells of all of a mother's children, both male and female. The mtDNA is passed on from generation to generation via the egg cell of the mother, therefore only females can pass on the mtDNA to their offspring. Therefore, mtDNA testing is also useful for genealogists for tracing the direct female ancestry of an individual.

Why is the Y-Chromosome
So Important to Genealogists ?

The Y-chromosome is passed down from generation to generation (father to son) normally unchanged. The very minor changes that do occasionally occur at random (usually only after many generations) are actually very helpful in assessing the results of the DNA test. The Y-chromosome is the only human chromosome that escapes the continual reshuffling of parental genes with every new generation. It is this unique characteristic of chromosome 23 that makes the Y-chromosome so important for genealogists.

For any particular individual, it is a random chance as to which parent�s chromosome (and its associated DNA) will be inherited. For example, one or more of the genes in one of the human chromosomes determines the child's eye color. Brown is dominant over blue, so if the child inherits a brown eye gene from one parent and a blue eye gene from the other parent, the child will have brown eyes. Because eye color is a visible characteristic, you may be able to determine (guess) which parent provided the brown eye gene to the child. However, in most cases, because the genes are inherited at random in every generation, for any given characteristic of your makeup, you will typically not know whether the activated gene in the child came from the mother or the father.

Men can only inherit the Y-chromosome from their father, because the mother doesn't have a Y-chromosome (that's the difference between boys and girls!). A man passes down his surname and his Y-chromosome DNA to his son. In most Western countries since the middle ages, the surname has been patrilineal. So, here in the 21st century we can test the male Y-chromosome and know with a great deal of certainty the identity of the Y-chromosome that the man's male ancestors had over 500 years ago when surnames were first used. We don't have to dig up our ancestors to test their DNA! In fact, the Y-chromosome deteriorates rapidly after death, so it is unlikely a DNA test could determine one�s Y-chromosome profile for someone who is no longer living.

What Results are Obtained ?

A 12, 25, 37 or 67-marker test is conducted on the cells retrieved from your cheek. The more markers tested, the more certain we can be of a match (genealogical link) between two or more participants. Markers are specific loci on the genes within the human chromosome. The markers (12, 25, 37 or 67) that are examined have been selected by the 'experts' to best represent the unique nature of the Y-chromosome. The Y-chromosome has many 100s of loci, perhaps several 1,000 all together, but the scientists have been able to narrow down the number to a few loci that they believe are the most meaningful for genealogical test purposes. In other words, when we compare the specific test results for each marker for one man's DNA against other men, we are most likely to determine if there is a recent common ancestor using as few as 12-markers (although 25 or more markers provides results with greater probabilities). In some cases, the 12-marker test will suffice; however, in many cases, we may need to run a more definitive test using 25 or more markers to be very sure of the results. The more markers used for the test, the more likely (higher probability) there is a recent common ancestor when all the markers for both men are tested to be identical (12 for 12, 25 for 25, 37 for 37, and 67 for 67) or very nearly identical (11 for 12, 23 for 25, 34 for 37, and 62 for 67). Obviously the more markers tested, the higher the cost of the test, although DNA testing for genealogical purposes is now quite reasonable.

The test results by themselves won't mean much to the casual observer. In fact, you can't plug your results into a computer database and have it print out your genealogy. Someday, this may be possible, but not today. That's another whole different story. Anyway, what we can do today is compare a man�s DNA test results with the results of other men who have been tested in the same manner. When the results are an exact match, we know that there is a 99% probability that the two men tested have a recent common ancestor. So, when we have men with fairly well established genealogies, such as we have for many of the Knowles lines, we can then assume an individual�s results represent the Y-chromosome profile for that particular ancestor.

KNOWLES SURNAME PROJECT REPORT

Welcome to the Project Report for the Knowles Surname DNA Project. This 'publication' is a comprehensive look at the field of Genetic Genealogy and its impact on the research for the Knowles surname lines (for all spellings of the surname, including: Knoles, Knoll, Noel, Noles, etc.).

If you are already familiar with the Knowles Surname DNA Project, you may elect to use the following links or the links above to further your knowledge of DNA and DNA testing (DNA-101), the Family Tree DNA Company (FTDNA), to Order a DNA Test or review the Results achieved so far.

Robert B. Noles has established the Knowles Surname DNA testing program for the male Y-chromosome through FamilyTreeDNA.com. A general discussion of Y-DNA testing and the benefits to the Knowles, Knoles, Noles genealogy research efforts is covered in this Report.

This and subsequent updates to this Report will provide you with:

Information about how and why utilizing DNA testing can benefit and focus your genealogical research efforts,

What results you can expect from a DNA test,

How and where to obtain a DNA test,

How results are interpreted, and

The latest Knowles results.

The Knowles Surname DNA Project Report has three main objectives:

To recruit new participants for the Knowles Surname DNA Project,

To inform current participants of their results in comparison to all participants and,

To serve as a reference document for Genetic Genealogy for the participants.

The availability of inexpensive DNA testing for genealogical and ancestry investigation purposes is beginning to unravel some of the mysteries of our origins that cannot be accomplished with traditional genealogical research.

For example, do you answer YES to any of these questions:

Have you hit a brick wall with your research?

Can�t find any documents for that elusive ancestor?

Can�t find your ancestor�s homeland?

Wondering if you are related to another family with the same surname?

Would like to know if the family stories concerning Native American heritage are true?

DNA testing for genealogists can unlock the clues to your genealogy enigmas, because you and the other descendants of your ancestors have inherited DNA from those ancestors at every generation.

One or more of the genealogical DNA tests available today can:

Determine if two people are related

Determine if two people descended from the same ancestor

Provide an approximate time frame for the common ancestor

Determine a possible point of origin for your surname

Determine if other surnames are variants of your surname

Confirm your family tree

Find out who with your surname is related

Prove or disprove a research theory

Provide clues to solve brick wall situations

Find others to whom you are related

Verify your ancestors migration

Verify Native American or Cohanim ancestry

Obtain clues about your ethnic origin

The Knowles Surname DNA Project is a growing prime example of the use of this new technology. The Knowles Surname DNA Project Report is posted here to provide a summary of the results obtained to date from project participants and to continue our education concerning the use of genetics testing in support of genealogy.

You do NOT need to be a member of the Knowles/Knoles/Noles Family Association to participate in the Knowles Surname DNA Project.

If you are already a member of the Knowles Surname DNA Project, your participation is much appreciated by me and hopefully by many current and future frustrated Knowles genealogists, who have been unable to connect their Knowles lines to one of the many known Knowles progenitors. If you are not already a participant in or contributor to the Knowles Surname DNA Project, please join this historic project as soon as possible. Although the testing is for Knowles (any spelling) men only, females can participate by sponsoring a male Knowles cousin, nephew, brother, father, or uncle. A blood sample is NOT required for this test program!

In addition to the summary of results, we need to understand Haplogroups, genetic distance, what DNA tests are available and the pricing for all FTDNA genetics tests for genealogical purposes. The Knowles Surname Project is a Y-chromosome project involving genetics testing for men. However, the summary of all DNA tests available for genealogical purposes and the associated pricing for these tests is included in the report, because many of you might want to pursue some of the other genetics tests. In some cases, the favorable pricing for combinations of tests might be attractive to you.

Have you been thinking about taking a DNA test, and are waiting until you learn more? While this report may provide you with what you need and want to know, the best way to learn is to obtain an actual DNA test. Once you have your DNA results, and can compare your result to the results of others, you will quickly see the power of DNA testing.

This Knowles Surname DNA Project Report is subdivided further into the following four major sections. If you are new to genetics for genealogy, it is suggested that you read the articles provided in Sections 1, 2 and 3 before ordering a test or asking a lot of questions. Many of your questions will be answered herein. However, should questions arise that are not covered, please contact Robert B. Noles.

Use the links below to access other sections of this Project Report:

1. DNA - 101 (Explanation of DNA basic information)

DNA 101 by the for the Knowles Surname Project is my attempt to explain the extremely complex and confusing science of Genetics and DNA in layman terms. This article addresses DNA as it applies to Y-Chromosome testing and genealogy as well as testing of mitochondrial DNA. Also included are discussions as to how to interpret results obtained by Knowles participants in the Knowles Surname DNA Project .

2. FTDNA (An introduction to the Company)

While Y-Chromosome testing has been available since the mid-1990�s, it�s only recently that testing for genealogical purposes at reasonable prices has become available. A company, based in Houston, named Family Tree DNA (FTDNA) launched in 2000, provides the first commercial testing of Y-DNA for surname studies. Since that time, FTDNA has performed approximately 75% of the surname reconstruction projects worldwide.
Family Tree DNA provides a safe, accurate and exciting breakthrough in the field of Genealogy, using cutting edge university-proven technology. FTDNA has assembled a secure, private and confidential non-web-based results database where a participant can verify if they are related to someone else, even if they do not share the same family surname.

3. Ordering a Y-DNA Test (How to place an order)

4. Summary of Test Results (With explanations)

The Y-chromosome testing results from the KNOWLES Surname DNA Project will be posted on the KKNFA Web Pages through this link. The KNOWLES Project results are displayed without identifying specific participants (unless their permission is granted). Participants are identified anomalously via their DNA Kit Number and their Knowles Progenitor when their progenitor has been established.

Robert B. Noles
Project Manager (Group Administrator) Knowles Surname DNA Project

DNA Inheritance Chart

Your genes are inherited. The DNA testing readily available today for the benefit of genealogical research involves the Y-Chromosome for a man's direct surname line (father, grandfather, great-grandfather, etc.) and mitochondrial DNA for a person's (man or woman) direct female descent (mother, grandmother, great-grandmother, etc.). In other words, you or members of your family can easily and economically be tested today to confirm the two outer most lines of your pedigree chart. A graphical representation of this inheritance can be viewed via the link below.

DNA Inheritance Chart

GENOGRAPHIC PROJECT

Spencer Wells, Ph.D., Director, Genographic Project for the National Geographic Society is the population geneticist who has conducted pioneering research using DNA to trace humankind's migratory history. Dr. Wells is currently embarked on a new study, the Genographic Project, to further evaluate the early human migration out-of-Africa some 50 to 60,000 years ago.

Most scientists think humans are descended from a common ancestor, so why do we look so different (the DNA from all humans is 99.9% identical; it's the 0.1% that makes us different)? IBM and the National Geographic Society are searching for the answer to this question by creating a global family tree from human DNA via the Genographic Project. Lead researcher, Spencer Wells is overseeing the gathering of 100,000 samples from native peoples around the world to learn the routes early man took to populate the Earth. Dr. Wells expects some surprises when the results are analyzed by 2010. Dr. Wells tells us, "We all share a common beginning and many similarities. If we remember that, maybe we can reduce the tendency to emphasize our differences."

The general public has been invited to participate in the Genographic project. You can be included in this historic National Geographic Society Project by purchasing a test kit, doing a simple mouth swab and sending it in. In eight weeks, you'll learn about your deep ancestry (results are kept secure). The purchase of the test kit from NGS includes the "Journey of Man" video, by Dr. Wells.

http://www.nationalgeographic.com/genographic

The results received via your participation in the Genographic Project (12 Y-DNA markers) can be transferred to one or two of the FTDNA Surname or Regional DNA Projects. If you already have 12-marker (or more) results via a FTDNA test, you can transfer your results to the NGS Genographic study for a $15 donation