Amsler Y-DNA Family Project

Several Amsler families were living in different towns and villages in the Bernese Aargau in the 16th century. One unresolved question is whether these families were related. Based on the existing church records we can see no direct family connection. Although there are indications of an indirect link between Amsler in Schinznach and Densbüren there is no evidence of actual relationships. Amsler are also recorded in Canton Zurich around 1600, their origin is unknown.

This is where a surname Y-chromosome study might help. Comparing the Y-DNA of any males sharing the surname Amsler might reveal if there was a common ancestor from which they inherited their surnames.

The following text is largely based on the documentation of a similar project by the Stanford University for the Family name Bachmann. The goal is to determine which descendants of Swiss and of early American Bachmann immigrants share common ancestors.

Genetic Genealogy

Genetic genealogy involves the use of genealogical DNA testing to determine the level and type of the genetic relationship between individuals. DNA contains the codes that determine our inherited characteristics. It consists of long strings of molecules in the form of the now famous “double helix,” which looks somewhat like a spiral staircase.

Simple diagram of double-stranded DNA with the four types of base pairs

The coding part of DNA consists of four types of base pairs weakly bonded across the “steps” of the staircase. These four bases have been named adenine (A), thymine (T), cytosine (C), and guanine (G). The four letters A, T, C and G are consequently used to describe sequences of DNA.

“Genes” consist of specific sequences of the four bases, which control the production of RNA or proteins. However mixed in among the genes are long segments of DNA that appear to serve no function. DNA is contained in 46 chromosomes found in 23 pairs in the nucleus of nearly every cell of the human body.

The image shows a simple diagram of double-stranded DNA (Source: Wikimedia commons)

DNA Heredity

Of the 46 chromosomes, mother and father randomly pass on half of their chromosomes, forming the 23 pairs. 22 of these combined pairs are known as autosomal DNA, or atDNA. The 23rd pair determines the gender and is often referred to as sex chromosomes. In the case of humans, this happens to be the X and the Y chromosomes. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or Y chromosome.

This arrangement means that it is the male that determines the sex of the offspring when fertilization occurs.

Image showing the inheritance of Y-DNA, atDNA and mtDNA
Inheritance of Y-DNA, atDNA and mtDNA (Source: Livingdna.com)

Mitochondrial DNA (mtDNA) is found outside of the nucleus of cells, does not recombine, and is passed on by females. Thus it can be used to establish matrilineal groupings (popularized in the book “The Seven Daughters of Eve” by Bryan Sykes).

The Y-Chromosome

The Y-chromosome is inherited more or less unchanged from father to son to grandson, indefinitely. Chromosomes contain the DNA that determines our inherited characteristics, and the Y-chromosome is one of the 46-chromosomes in the nucleus of each of the cells of all human males. Most chromosomes, including the two X-chromosomes possessed by females, get recombined or shuffled each generation before being passed down to offspring.

But the Y-chromosome is unique in remaining more or less unchanged when passed from father to son. Thus while most chromosomes will contain a random mixture of genetic codes from one’s grandparents and great-grandparents, a male’s Y-chromosome will be identical or nearly identical to that of his father, grandfather, great-grandfather and beyond for countless generations. Since surnames tend to be inherited in the same manner as Y-chromosomes (from father to son or patrilineal), Y-chromosome testing lends itself particularly well to surname studies.

“Unchanged” must be qualified by “more or less” because mutations occasionally occur. Otherwise all males would have identical Y-chromosomes, making them useless for genealogical purposes. By looking at specific locations on the Y-chromosome (known as markers among genealogists), we can compare individuals and support or disprove suspected genealogical relationships.

Markers

There are a number of different kinds of mutations (changes in the genetic code) that can occur when DNA is copied within a cell and passed on to the next generation. Short-tandem repeats (STR’s) are the markers tested in most genealogical Y-chromosome studies. STR’s occur at specific locations on the Y-chromosome, and are given names such as “DYS391.” STR’s occur when short segments of DNA sequences get repeated over and over along a portion of a chromosome. For example, DYS391 consists of repeats of the base sequence -GATA-. Once an STR exists, it may change by adding or subtracting a repeat or two during the replication process. Estimates of the frequency of changes range from less than 2 mutations per 1000 generations to over 7 per 1000 generations for each STR, depending on which marker.

Thus over a long period of time, individuals will tend to have at least some differences in the values (number of repeats) on the various STR markers on their Y-chromosome. If you look at 25 markers, there is about a 50% chance you will find at least 1 mutation in 9-10 generations (or, counting both up and down from the common ancestor, between yourself and a 4th cousin). DYS391 can have values ranging from 7 to 14 repeats, with 10 and 11 being common in populations with European ancestry. There have been over 200 STR markers identified on the Y-chromosome, but not all are variable enough for genealogical purposes. Testing companies currently test between 12 and 111 markers. To test for 37 markers is the recommended minimum.

Haplogroups and “clans”

Another kind of mutation is a base substitution (single nucleotide polymorphism or SNP). A change to a given base is extremely rare compared to changes in STR’s, and specific substitutions are believed to have occurred only once in human history. Thus all people who share a specific SNP value usually can trace it back to a mutation in a single ancestor. Consequently, SNP’s can be used for broad anthropological studies of our ancestry, and have been used to create a “family tree” of the paternal heritage of all humankind.

Large haplogroups (or “clans” in the terminology of some testing companies) originated with a single ancestor who had a specific SNP mutation, and these haplogroups have been given names beginning with capital letters. The most common haplogroup among Europeans is labeled R1b. It is especially common along the Atlantic seaboard (over 80% of some populations), but is also frequent throughout Europe. Other common European haplogroups include R1a and I, which are common in northern and central Europe.

World Map of Y-Chromosome Haplogroups
World Map of Y-Chromosome Haplogroups (Source: Wikimedia Commons)

In order to know your haplogroup with 100% certainty, you would need to pay for a separate SNP test. But certain combinations of STR values are commonly associated with specific haplogroups, and most people’s haplogroups can be accurately guessed from their STR values. This is because even after thousands of years, the STR values of the original fathers of the various haplogroups are still reflected in the STR values found among his descendants. For example, most of the Amslers who have been tested so far have STR haplotypes that are clearly R1b.

Knowing one’s haplogroup may not tell you much about your more recent genealogy, but it is of interest to many to know if their ancient patrilineal ancestor was one of the Cro-Magnon people who first resettled western Europe after the ice ages (R1b), one of the Gravettians who came into Europe from the east a bit later (I), or one of the early agriculturalists who came from the Middle-east thousands of years later (J, among others).

Another kind of haplogroup or “clan” involves classification using mitochondrial DNA (mtDNA). But because it mutates relatively slowly, it is of less use for genealogy.

Application to Genealogy  – Amsler Family

One approach is to use Y-chromosome testing to focus on certain well-defined puzzles or hypotheses. We know that several Amsler families lived in the Bernese Aargau in 16th century Switzerland. The villages and towns where they are recorded are located within a few miles from each other. A reasonable supposition would be that they might share a common ancestor from which they inherited their surnames. By comparing the Y-chromosomes of descendants of each of the ancestral Amslers, we should be able to substantiate or disprove the hypothesis of a common Amsler ancestor. This approach requires two or more people to submit samples together.

Fortunately there is already such a DNA family project.

Results for Testers participating in the Amsler Family Y-DNA Project
Amsler Y-DNA Family Project (Source: ftdna.com)

Currently the results of 9 Amsler testers are listed. Seven of them share the same haplogroup, R-M269. Their place of origin is either Densbüren, Schinznach or Bözen. For the two other testers, one can assume a “non-paternal event (NPE)”. This could be an undocumented adoption, a name change, a friendly neighbor or other reasons that led to different haplogroups.

The genealogy of Amsler families in the three municipalities Schinznach, Densbüren and Effingen/Bözen is well documented and includes 14-15 generations. Hence a common ancestor would have to have lived 15 generations ago or longer.

The Website provides a tool to estimate the genetic distance between any two testers. Based on the number of mutations or differences between the examined markers of the testers, the tool calculates a probability of them having a common ancestor.

For the two testers with hometown Bözen, the “genetic distance” corresponds to two variations at 37 STR markers. The definition of this relationship is: “A 35/37 match between two men who share a common surname means that they share a common male ancestor”.

According to a well-researched family tree, the two Bözer testers do indeed have a common ancestor, namely Hans Amsler, born 1652. For the first tester the common ancestor lived 8 generations ago and for the second tester 9 generations ago.

For some testers the results for 111 STR markers are also available. The genetic distance with the Amsler from Bözen is 6 or 7, which means they are “probably related”. This is the definition: “A 105/111 match indicates a more distant genealogical relationship”. However, it is not clear here exactly how far back this relationship lies. According to Family Tree DNA, the probability that the common ancestor lived 17 or more generations ago is 95%. For 20 or more generations, this probability is already at 99%.

This suggests that the Amsler very likely had a common ancestor towards the end of the 15th century, about 17-20 generations ago. Although only few results are available, I currently assume that the Amsler from Schinznach, Densbürer and Bözen are related on the paternal side.

It is very desirable to have more Amsler testers. This would yield more information about mutations and possible variations between the different hometowns.

Females can participate in two important ways even without the male y-chromosome.  First, she can encourage or sponsor an Amsler-surname brother, father, uncle, 4th-cousin or other patrilateral relative to do the easy and simple FTDNA y-dna cheek-swab test as, in effect, her own test.

Second, she can do the FTDNA Family Finder (FF) at-dna test. FF reaches back for matches and matching ancestor-union profile blocks on all the male or female tester’s lines on both sides of the tester’s family for about six to seven generations. Random recombination at each generation gradually reduces the blocks below reportable size.

Risks

The single largest potential risk of Y-chromosome tests is the possibility that a participant will discover that he is not biologically related to someone else in the way expected. Sometimes a long established and accepted genealogy will turn out to have been wrong. Illegitimacy rates vary by time, place, and economic and social status, but have always occurred. Adoptions have also always occurred, and their knowledge might easily be lost by later generations, especially prior to widespread vital records. Thus unexpected non-matches can occur, and some people may find this disturbing or even traumatic, especially if a “non-paternal event” may have occurred in the recent past.

Commercial DNA Testing organizations are known to have agreements with pharmaceutical and other companies to sell genetic information as part of their business model. This raises questions about data protection policies and privacy. On the other hand, we disclose a lot more personal information by simply using Google to search the Internet or by using social media.

For additional cost the DNA testing companies may offer to provide information about hereditary diseases to their clients. These services should be used with caution, especially considering other and equally or more important factors such individual behavior or environment. Also note that certain countries such as France currently prohibit commercial DNA Analysis. This ban on direct-to-consumer genetic testing is part of the country’s bioethics laws, which legislators are supposed to revise every seven years.

Conclusion and Call to Action

The most effective use of Y-chromosome testing for genealogical purposes will be either within a family surname project or when testing a specific hypothesis about a possible common ancestry of two individuals. Not every genealogical puzzle can be solved with DNA, and it is important that participants in such studies realize that there is no guarantee that the results will be as desired or expected. However under the appropriate circumstances, genetic or molecular genealogy can be a powerful tool to substantiate or disprove hypotheses where traditional documentation is weak or non-existent.

If your surname is Amsler you are welcome to join the Y-DNA family project. By doing so you will learn more about your heritage. Comparing our Y-DNA will help to answer the question if there was a common ancestor from whom we may have inherited our surname.

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