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Discovering Deep Genetic Ancestry with DNA Haplogroups and Genetic Markers

Project Work In Progress by Herbert Holeman, PhD.

Notes Posted .

To borrow a phrase, to know who you are, you have to know where your story began. DNA makes this possible. It is a substance, a chemical called deoxyribonucleic acid, and as science writer, Sam Kean says, for more than three billion years, DNA has been copying human history. Oxford researcher, Dr. Simon Myers, adds, "DNA really has the power to tell stories and uncover details of humanity's deep past using only genetic data, independent from other sources.

Thus, Ancient DNA fills in the human past with data rather than inference. This is the perspective I follow to tell the story of my deep genetic ancestors, and I do this by using biogeographical based DNA in the form of haplogroups.

The term "haplogroup" is commonly attributed to Dr. Michael H. Brown, an Australian geneticist. He introduced the word in his 1998 paper "The Maternal Ancestry of Polynesians," published in the American Journal of Human Genetics. In this paper, he used "haplogroup" to describe the branches or clusters of maternal lineages identified through mitochondrial DNA (mtDNA) analysis.

Since then, haplogroup has been used in human genetics to define genetic populations -- groups of people sharing common genetic characteristics, including those inherited by descent (IBD). Haplogroups have proven useful in studying human evolution, population genetics, and genealogy.

Haplogroup Relevance in Genetic Ancestry.

The use of haplogroups as a way to categorize and trace ancestry based on specific genetic markers has become widely adopted in genetic genealogy and population genetics research. The International Society of Genetic Genealogy (ISOGG) defines a haplogroup as "a genetic population group of people who share an ancestor in common on either their paternal or maternal line."

The relevance of a haplogroup in this work lies in its ability to provide insights into our deep ancestral lineage and genetic heritage. These four points are essential in that regard:


  1. We learn about our direct line of descent from our paternal and maternal ancestors through haplogroups. They allow the tracing of patrilineal and matrilineal inheritance through specific genetic markers.

    • Each person possesses two haplogroups, one from each of their birth parents. Each of these haplogroups follow gender descendancy lines. One haplogroup follows the Y-chromosome (Y-DNA) genetic markers passed down from fathers to sons. The other haplogroup follows the mitochondrial DNA (mtDNA) genetic markers passed down from mothers to their sons and daughters.
    • Alongside autosomal DNA (atDNA), Y-DNA and mtDNA provide a comprehensive picture of genetic inheritance by considering genetic material inherited from both parents.

  2. Haplogroups indicate shared ancestral roots. They play a significant role in exploring family history by uncovering relatives, both close and distant.
  3. Haplogroups shed light on ancient human migrations and the spread of populations across continents and regions.
  4. They contribute to a broader understanding of our ancestral origin and cultural-genetic heritage within geographical populations.

Haplogroup Relevance in Admixture Ancestry.

Thus, each of my haplogroups traces my ancestral genetic lines, and each weaves a pattern of geographical migrations that contribute to changes in my genome in the form of ancestral admixture. Admixture is the result of people interbreeding, such as when a group of people from one geographic location migrate into a new area inhabited by people of another group.

Figure 1
A Migrant World
Migration World

As both groups have children together, their children's DNA becomes a mixture of the DNA from each admixing group. When subsequent generations repeat this process, the genomes of descendants contain pieces of DNA inherited from each admixing. Haplogroups are formed from sorting these remaining bits of DNA admixture and organizing them. This process reveals where our ancestors came from because each haplogroup has related patterns of DNA sequences (haplotypes) that represent that population.

The haplogroup process can be likened to that experienced by such ancestral groups as the Vikings, Celts, and Mongols. Interestingly, a haplogroup reappraisal of the Viking image revealed many of whom were in actuality farmers with families seeking to migrate for a better life.

Figure 2
Ancestry Migration
Migration World

That study tells a story of a genetic legacy of modern diversity from paternal Y-DNA and maternal mtDNA in a population's gene pool. It reveals population admixture from male subjects whose patrilineal ancestry lay in Scandinavia and female subjects whose matrilineal descent lay within the British Isles.

The power of DNA becomes clear in a study's findings reported in 2020. The remains of several people buried as Vikings in Norway were found to be actually closer genetically to East Asians than to Europeans. Similar, findings occured in another study which examined the genetic imprints of the Mongolian clans on global ethnic admixture.

Figure 3
Ancestral Admixture
Migration World

In revealing patterns of human migration, the Human Genome Project reached out to indigenous populations who kept the link to the geography of their ancient historical past and concluded: "Your haplogroup is your branch on the human family tree. All people alive today belong to distinct haplogroups ... People belonging to the same haplogroup can trace their descent to a common ancestor and even a specific place where that ancestor may have lived."

That said, haplogroups serve a variety of purposes, such as scientists correlating haplogroups with a broad spectrum of common diseases.

However, my focus with haplogroups is with tracing the biogeographical line of my genetic ancestors and learning something of their world's milieu.

Figure 4
Ancestral Lines
by Haplogroups

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Copyright © 2018 Herbert P. Holeman, Ph.D. All Rights Reserved.