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Maternal Haplogroups: Diving Deeper

A maternal haplogroup is a family of mitochondrial DNA (mtDNA) that traces back to a single common ancestor. Your maternal haplogroup assignment is based on your mitochondrial DNA, which you inherited from your mother. The Maternal Haplogroup report tells you about your maternal-line ancestors, from your mother through her mother and beyond. Both males and females inherit their mitochondrial DNA and, therefore, their haplogroup assignment from their mothers. Haplogroups are defined by specific sets of shared genetic variation. Be sure to check out our “Getting Started with the Haplogroup Reports” for a brief overview of this report and where to find the report within your account.

Maps | Naming Structure | Phylogenetic Tree | Science Behind | Common Questions

 

Maternal Haplogroup Maps

The Maternal Haplogroup report displays a series of maps showing the migration of humans with a certain haplogroup. These maps reflect human migration over tens of thousands of years, a period in which humans migrated from eastern Africa to inhabit every continent on Earth except Antarctica. As they spread out geographically, they also diversified genetically. When a genetic variant arises in an individual and is passed down through the maternal lines, it will be present in living descendants.

Since members of a haplogroup tend to be found in the same region of the world, your maternal haplogroup can say something about where some of your maternal-line ancestors lived. Geneticists use global haplogroup distributions to trace significant events in human prehistory, such as the migration of people to the Americas or the expansion of agriculture from the Middle East. In many cases, we can offer accounts of where and when a haplogroup originated.

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Maternal Haplogroup Naming Structure

Maternal haplogroups begin with a capital letter (occasionally two) that designates a major branch of the mitochondrial DNA tree. That capital letter is often followed by a series of numbers and lower-case letters, each corresponding to a subsequent branch of the tree.

All lineages of a subgroup share one or more mutations, but sometimes there are a few lineages that don't fit into any named subgroup of a haplogroup. Since there isn't a known mutation linking these lineages, they don't get their own subgroup. Instead, these lineages are given the main haplogroup label plus a star (*) to indicate that they are part of the main haplogroup but don't fit into any of the known subgroups. An example of these "star" lineages is I1*. Sometimes new research leads to the discovery of mutations that link several of the "star" lineages. When that happens the lineages get a new name and lose their "star" designation.

 

Phylogenetic Tree

Maternal haplogroups are named with sequences of letters and numbers that reflect the structure of the tree and how the branches relate to one another. The framework used to identify different haplogroups, and how they relate, is called a phylogenetic tree. To see your haplogroup highlighted in a phylogenetic tree, click "Scientific Details" located near the top of the page.

At the left edge of the tree is the most recent common female-line ancestor (MRCA) of all living people. Though she was one of perhaps thousands of women alive at the time, only the diverse branches of her haplogroup (L) have survived to today. The story of your maternal line begins with her.

To the the right are her descendants. Each major branch of each tree is named with a letter, and deeper branches within the tree are labeled with sequences of numbers and letters. Each branch is thousands or tens of thousands of years old.

You may notice that some haplogroups are solid circles, while others are not. Haplogroups with additional subgroups have solid circles located under the haplogroup label; click the solid circle to reveal any subgroups. There may be additional expandable haplogroups, so keep an eye out for more solid circles. Clicking on the tree and dragging enables you to move the tree around to view different sections.

 

Science Behind

Haplogroup is the term scientists use to describe a group of mitochondrial (maternal haplogroups) or Y-chromosome (paternal haplogroup) sequences that are more closely related to one another than to others. The term haplogroup is a combination of haplotype and group. In this context, haplotype refers either to the DNA sequence of one's mitochondrial DNA, which is inherited from one's mother, or to the DNA sequence of one's Y chromosome, which is passed from fathers to their sons. Due to their unusual pattern of inheritance, the mitochondrial DNA and the Y chromosome contain information about your maternal and paternal lines, respectively. But together, they make up less than 1% of all your DNA, and only represent a small fraction of your ancestry.

Maternal haplogroups are assigned by detecting certain genetic variants unique to each haplogroup. Our platform probes single nucleotide polymorphisms (SNPs) that are known to vary from one person to the next. These SNPs, selected because they are common and/or useful in determining your particular maternal haplogroup, include some in the coding region as well as some in the Hypervariable Region. While these SNPs yield a high level of resolution, they are less detailed than full sequencing of all 16,569 base pairs of the mitochondrial genome would be, so this analysis does not include some of the less common mtDNA variation you might have. If our haplogroup assignment looks different from other assignments you may have received, it may be because different reference trees were used and/or a different set of SNPs were analyzed.

 

Common Questions

Who will receive a maternal haplogroup?

Both men and women will receive the Maternal Haplogroup report. This is because both males and females inherit mitochondrial DNA from their mothers and, therefore, their haplogroup assignment from their mothers.

 

What do the numbers and letters in my haplogroup mean?

Maternal haplogroups are named with sequences of letters and numbers that reflect the structure of the tree and how the branches relate to one another.

 

Why doesn’t my haplogroup match what I know about my ancestors?

The information in this report does not represent all the ancestors on your mother’s side. Rather, your maternal haplogroup tells you about a specific line of ancestry.

Your maternal haplogroup tells you about your maternal-line ancestors, from your mother to her mother and beyond. So your maternal haplogroup helps you trace your ancestry through your mother’s mother but not through your mother’s father. This is because maternal haplogroups are based on mitochondrial DNA, which is passed exclusively from mothers to their offspring, generation after generation.

Your family history is unique; the example populations and regions provided in this report may differ from what you know about your ancestors for a variety of reasons. For example, your ancestors may have migrated away from other people with the same haplogroup, or there may be other considerations specific to your family.

 

Additional Resources

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