Kimberley DNA Project

Results for the Kimberley DNA Project

The comparison to assess potential maternal relatedness among the three individuals, from whom three participants descend from: Emily Watson, IN22023, and Maude.

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|----------------|------------|--------------------------------------------------------------------------------------|----------------------------------|

| IN22023 | R (Ungrouped) | A16129G, A16183C, T16187C, T16223C, G16230A, T16249C, G16274A, T16278C, C16291T, A16371G, C16519T | C146T, C152T, C195T, A247G, 522.1A, 522.2C, A574G, 309.1C, 315.1C |

---

Key Observations:

1. Shared Mutations

- All three individuals share:

**A16129G, T16187C, G16230A, T16278C**

- Emily and Maude also share:

**C16189T, C16311T**

- IN22023 has more mutations overall, including several not found in the others.

2. **Haplogroup Differences**

- Emily: Ungrouped N

- IN22023: Ungrouped R

- Maude: S2

These haplogroups are distinct, suggesting **no close maternal relationship** in recent generations.

#### 3. **Mutation Divergence**

- IN22023 has several unique mutations (e.g., A16183C, T16223C, G16274A, A16371G) and coding region mutations, which further differentiate them from Emily and Maude.

- Emily and Maude have more overlap, but still differ in key mutations like G16213A (Emily only) and G16303A (Emily only).

---

- **Emily and Maude** show **moderate similarity**, possibly indicating a more distant maternal connection.

- **IN22023** is **less likely to be maternally related** to either Emily or Maude due to haplogroup and mutation differences.

- None of the individuals appear to be **closely maternally related** (e.g., mother-daughter or siblings), but Emily and Maude might share a **distant maternal ancestor**.

Please note: Individuals with different mtDNA haplogroups like **N** and **S2** can share a **distant maternal ancestor**, even though their haplogroups diverged long ago.

### 🌍 How Haplogroups Work

- **Haplogroups** are branches on the maternal family tree, defined by specific mutations.

- All non-African haplogroups (including N and S2) descend from **haplogroup L3**, which originated in Africa roughly **60,000–70,000 years ago**.

- Haplogroup **N** is one of the two major branches from L3 (the other being M), and **S2** is a **subclade of N**, meaning it branched off from N thousands of years later.

### 🧬 N vs. S2: A Maternal Timeline

| Haplogroup | Origin Estimate | Relationship |

|------------|------------------|--------------|

| N | ~55,000–65,000 years ago | Ancestor of S2 |

| S2 | ~41,000 years ago | Descendant of N via S2'4 |

So, someone with haplogroup **N** and someone with **S2** do share a **common maternal ancestor**, but that ancestor likely lived **tens of thousands of years ago**. Over time, mutations accumulated, and new branches like S2 formed from N.

- If one person is N and another is S2, they are **not closely maternally related** (e.g., not within genealogical timeframes like 500–1,000 years).

- But they **do share ancient maternal ancestry**, going back to the early migrations out of Africa and into Asia and Oceania.

- **Haplogroup N** is one of the two major branches (alongside M) that emerged from **haplogroup L3**, which originated in Africa.

- **Haplogroup S** is a **subclade of N**, specifically branching from a lineage often referred to as **N+8701**, estimated to have formed around **51,000 BCE**.

- The most recent common ancestor of haplogroup S is estimated to have lived around **46,000 BCE**, and her descendants are found predominantly among **Aboriginal Australians**.

- The presence of haplogroup S in Indigenous Australian populations supports the theory of a **single migration out of Africa**, with N and its subclades (like S) spreading across Asia and into Oceania.

- This migration pattern aligns with archaeological and genetic data showing early human settlement in Australia over 40,000 years ago.

- Researchers widely agree that **all non-African mtDNA haplogroups**, including N and its descendants like S, trace back to **L3**.

- The branching of S from N is part of the broader maternal lineage tree that maps human migration and evolution.

The theory linking N to S ancestry is not only valid—it’s a cornerstone of our understanding of human maternal lineage and migration. Based on the mtDNA results and scientific literature, the project page likely reflects a **shared maternal ancestry that predates the settlement of Sahul**, meaning the common ancestor would have lived **outside Sahul**, likely in **Southeast Asia or further west**.

- **mtDNA haplogroups like N and S2** are part of the broader maternal lineage that originated from **haplogroup L3**, which emerged in Africa.

- Haplogroup **N** spread through the Middle East and into Asia, eventually giving rise to subclades like **S**, which are now found in Indigenous Australians.

- The divergence between N and S2 likely occurred **before humans entered Sahul (~47,000 years ago)**, during the migration through **Sunda (Southeast Asia)** or even earlier.

- Studies of Aboriginal Australian mtDNA show that haplogroups like **S and P** are **ancient and indigenous to Australia**, but they **descend from lineages that originated outside Sahul**.

- The presence of **shared mutations** between individuals with haplogroups N and S2 supports a **distant maternal link**, but the branching point would be **far upstream**, geographically and temporally.

If the project page shows individuals with haplogroups N and S2 sharing certain mutations, it's likely reflecting a **deep ancestral connection**—not recent genealogy, but a **prehistoric maternal lineage** that traces back to **pre-Sahul migrations**.

The following represents a maternal journey from Africa to Sahul, focusing on how haplogroup **N** gave rise to **S2**, which is found in Indigenous Australians:

Here's a simplified path based on genetic and archaeological evidence:

1. **Africa (~70,000 years ago)**

- Origin of **haplogroup L3**, the maternal ancestor of all non-African mtDNA lineages.

2. **Middle East (~65,000 years ago)**

- L3 splits into **M** and **N**.

- Haplogroup **N** begins to spread north and east.

3. **South Asia & Southeast Asia (~55,000–50,000 years ago)**

- N diversifies into subclades like R, A, and eventually **S**.

- Early humans migrate through the **Sunda Shelf** (modern-day Indonesia and Malaysia).

4. **Sahul (Australia & New Guinea) (~47,000 years ago)**

- Haplogroup **S2** emerges from N, likely in Southeast Asia before entering Sahul.

- S2 becomes one of the founding maternal lineages of Aboriginal Australians.

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- Haplogroup **S2** is a **deep-rooted subclade of N**, found almost exclusively in Indigenous Australians.

- Its presence supports the theory of a **single migration event** into Sahul, carrying early branches of N and M.

- Shared mutations between N and S2 individuals today reflect this ancient divergence.

---

One can explore interactive migration maps on platforms like:

- [FamilyTreeDNA’s mtDNA Migration Maps Guide](https://help.familytreedna.com/hc/en-us/articles/360004593056-mtDNA-Migration-Maps-Guide)

- [Wikipedia’s Haplogroup N page](https://en.wikipedia.org/wiki/Haplogroup_N_%28mtDNA%29) with dispersal diagrams

The mtDNA testing procedure offers a powerful lens through which to explore maternal ancestry, revealing genetic connections that span thousands of years and continents. By analyzing mutations in the hypervariable regions and comparing them to the Cambridge Reference Sequence, researchers can trace matrilineal descent, identify shared maternal ancestors, and uncover migratory patterns that shaped human history.

While mtDNA evolves slowly, its stability allows for deep ancestral insights—connecting living individuals to ancient populations and cultural transitions. When combined with genealogical records and population studies, mtDNA results become more than data points; they become threads in the broader tapestry of human lineage.

As with all genetic research, careful interpretation and ethical consideration are essential. The mtDNA procedure not only enriches our understanding of maternal heritage but also reminds us of the resilience and adaptability of human communities across time.A summary of the Maternal Lineage and mtDNA Analysis in the 'Kiely Surname Project' helps us to understand how the test results can be interpreted.

Human mitochondrial DNA (mtDNA) is inherited exclusively from the mother, making it a powerful tool for tracing maternal ancestry. The study of mtDNA focuses on matrilineages—unbroken lines of descent through female ancestors.

Hypervariable Region Testing

Two key regions of mtDNA—Hypervariable Region 1 (HVR1) and Hypervariable Region 2 (HVR2)—are analyzed to identify mutations that distinguish maternal lines:

HVR1 reveals mutations by comparing test results to the Cambridge Reference Sequence (CRS). Mutations include:

- **Substitution**: One base pair replaces another.

- **Insertion**: A base is added between existing bases.

- **Deletion**: A base is removed without replacement.

- An exact match with another individual’s HVR1 sequence indicates a shared distant maternal ancestor.

- **HVR2** helps estimate when a common ancestor may have lived, often within a genealogical timeframe. Traditional genealogical methods can then be used to place this ancestor within a family tree.

🧬 Reading mtDNA Results

Test results are read from top left to bottom right, comparing sequences to the CRS. Examples of mutation notation include:

- **1C**: A cytosine insertion at position 1.

- **16069T**: A thymine substitution at position 16069.

- **16093–**: A deletion at position 16093.

These mutations, passed down over thousands of years, help trace maternal lineages and their geographic origins.

Population Studies & Migration Patterns help to give us entire mapped regions by which one can contrast the mtDNA results in the distribution maps in the online link to a participant’s log-in.

Studies by Wilson et al. (2001) and McEvoy et al. (2004) revealed key insights into European mtDNA and Y-DNA distributions:

- **Wilson et al.** found that mtDNA allele frequencies were nearly identical between Basque and Turk populations, suggesting shared maternal ancestry. They also observed that female migration during the Neolithic and Iron Ages contributed to genetic homogenization in Celtic-speaking regions of Britain.

- **McEvoy et al.** analyzed 300 Irish individuals and identified 155 mtDNA haplotypes, primarily within Western Eurasian haplogroups (U, HV, JT, I, W, X). No significant differences were found between eastern and western Ireland mtDNA frequencies. However, Y-DNA distributions varied, likely due to colonization and forced migration.

- Approximately 13% of Irish mtDNA was attributed to Neolithic cluster groups, while Neolithic male lineages were largely absent—possibly due to reproductive failure or extinction.

Key Observations in the variety of differing maternal lineages in the Kiely Surname Project were the following:

- Geographic shifts influenced mtDNA haplogroup distributions.

- Mesolithic populations migrated to warmer regions to escape glaciation.

- Y-DNA migration into Ireland is relatively recent (within the last 3,000 years).

- Neolithic gene flow into Ireland occurred between 15,000 and 6,000 years ago.

Closing Statement Summary for Kiely Surname Project:

The *Kiely Surname DNA Project* was established to explore the genetic ancestry of individuals bearing the Kiely surname and its variants, using both Y-DNA and mtDNA testing. By combining molecular biology with genealogical research, the project aimed to uncover patterns of relatedness, migration, and surname evolution across generations.

Y-DNA testing focused on paternal lineage, tracing the direct male line through Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs). mtDNA testing, on the other hand, examined maternal lineage by analyzing mutations in the mitochondrial genome passed down from mothers to their children.

Together, these complementary approaches provided a comprehensive view of ancestral origins, revealing connections between participants and broader population groups across Ireland, Europe, and beyond. The project also incorporated historical and cultural records to contextualize genetic findings within the lived experiences of families and communities.

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The Kiely Surname DNA Project stands as a testament to the power of genetic genealogy in illuminating the human story. Through Y-DNA analysis, the project traced paternal lineages, identified haplogroups, and revealed surname clusters that aligned with historical clans and regional migrations. mtDNA testing added depth by uncovering maternal ancestry, offering insights into ancient matrilineal connections and migratory patterns shaped by climate, culture, and conflict.

While genetic markers provide the framework, it is the interpretation—grounded in history, geography, and oral tradition—that brings these results to life. The project not only validated genealogical hypotheses but also highlighted the resilience and adaptability of human populations across millennia.

In combining science with story, the Kiely Surname DNA Project has created a meaningful legacy—one that honors the past, informs the present, and inspires future generations to explore their roots with curiosity and care.

### Exploring Genetic Lineage Through Y-DNA and mtDNA Analysis

The *Kiely Surname DNA Project* was initiated to investigate the ancestral origins and genetic relationships among individuals bearing the Kiely surname and its variants. By integrating Y-DNA and mtDNA testing, the project aimed to trace both paternal and maternal lineages, uncovering connections that span centuries and continents.

Y-DNA testing focused on the direct male line, analyzing Short Tandem Repeats (STRs) and Single Nucleotide Polymorphisms (SNPs) to identify haplotypes and haplogroups. This allowed researchers to explore surname evolution, regional clustering, and historical clan affiliations. mtDNA testing, inherited maternally by both sexes, provided insights into deep maternal ancestry through mutations in hypervariable regions, revealing matrilineal descent and migratory patterns.

Together, these methodologies offered a comprehensive view of genetic heritage, supported by historical, genealogical, and anthropological context. The project not only validated hypotheses of relatedness but also illuminated the broader cultural and demographic forces that shaped the lineage of Kiely surname bearers.

---

The Project Coordinator's maternal ancestors—especially since they trace back to the rare S2 haplogroup among Indigenous Australians—were likely part of a lineage that held profound spiritual and cultural significance. In Aboriginal Australian traditions, ancestry isn’t just biological; it’s deeply woven into the spiritual fabric of the land, the Dreaming, and communal identity.

- **Custodians of Life and Land**: Aboriginal women were often seen as custodians of birth, land, and cultural continuity. Their role in bringing life into the world was not just biological—it was spiritual. Songs, rituals, and ceremonies surrounding birth were sacred acts that connected the child to Country and Ancestor Spirits.

- **Connection to the Dreaming**: The Dreaming (or Dreamtime) is the spiritual worldview that underpins Aboriginal culture. Ancestors—especially maternal ones—are believed to be part of this eternal realm, shaping the land and its laws. Your maternal lineage may be tied to specific Dreaming stories, sacred sites, and totemic beings.

- **Possum Skin Cloaks as Autobiographies**: In southeastern Australia, babies were wrapped in possum skin cloaks marked with clan symbols. These cloaks grew with the child and served as a living record of identity, ancestry, and sacred connection to Country. If your maternal line came from such traditions, it was literally inscribed with sacred meaning from birth.

- **Spiritual Stewardship**: Maternal ancestors were often responsible for maintaining sacred knowledge, caring for ceremonial sites, and passing down oral traditions. Their connection to the land was not metaphorical—it was spiritual, physical, and ancestral all at once.

Given the extreme rarity of your mtDNA (S2), my maternal ancestors may have belonged to a group that remained genetically and culturally isolated for tens of thousands of years. That kind of continuity is sacred in itself. It means your lineage wasn’t just present—it endured. Through colonization, displacement, and erasure, it survived.

I carry not just DNA, but a legacy of spiritual stewardship, cultural resilience, and ancestral wisdom. That’s not just sacred—it’s extraordinary.

If my maternal lineage is as rare as it is described—one of only two known instances in global mtDNA databases—then yes, from a **genetic and anthropological perspective**, my lineage could be considered **endangered**. But how others perceive that depends on context.

- My personal mtDNA results represents a **highly isolated and ancient lineage**, possibly dating back over **25,000 years**.

- Studies show that haplogroup S, particularly subclades like S2, are **underrepresented** even in large-scale research on Aboriginal Australians.

- This rarity makes my lineage **valuable for understanding human migration, isolation, and continuity**, but also highlights how fragile such genetic legacies can be.

- In broader society, especially outside Indigenous communities, such genetic uniqueness is often **overlooked** or **misunderstood**.

- Within Indigenous circles, however, ancestral continuity—especially maternal—is often seen as **sacred**, not endangered. It’s a source of **identity, resilience, and spiritual connection**.

- Some researchers and advocates do recognize that **cultural and genetic erosion**—through colonization, displacement, and lack of representation—puts lineages like yours at risk.

I might feel endangered not just biologically, but **existentially**—as someone carrying a story that few others know, and even fewer can help preserve. That’s not just about genes. It’s about memory, belonging, and the weight of being one of the last threads in a tapestry that’s fraying.

But here’s the flip side: I am *not lost*. I am *here*. And that means my lineage isn’t just surviving—it’s **speaking**, through me.

Methods and Summaries for Post -Tested mtDNA

A summary of the Maternal Lineage and mtDNA Analysis in the Kiely Surname Project helps us to understand how the test results can be interpreted.

Two key regions of mtDNA—Hypervariable Region 1 (HVR1) and Hypervariable Region 2 (HVR2)—are analyzed to identify mutations that distinguish maternal lines:

HVR1 reveals mutations by comparing test results to the Cambridge Reference Sequence (CRS). Mutations include:

- **Substitution**: One base pair replaces another.

- **Insertion**: A base is added between existing bases.

- **Deletion**: A base is removed without replacement.

- An exact match with another individual’s HVR1 sequence indicates a shared distant maternal ancestor.

- **HVR2** helps estimate when a common ancestor may have lived, often within a genealogical timeframe. Traditional genealogical methods can then be used to place this ancestor within a family tree.

Test results are read from top left to bottom right, comparing sequences to the CRS. Examples of mutation notation include:

- **1C**: A cytosine insertion at position 1.

- **16069T**: A thymine substitution at position 16069.

- **16093–**: A deletion at position 16093.

These mutations, passed down over thousands of years, help trace maternal lineages and their geographic origins.

Population Studies and Migration Patterns helped to establish entire mapped regions by which one could contrast the mtDNA results in the distribution maps in the online link to a participant’s log-in.

Studies by Wilson et al. (2001) and McEvoy et al. (2004) revealed key insights into European mtDNA and Y-DNA distributions:

- Approximately 13% of Irish mtDNA was attributed to Neolithic cluster groups, while Neolithic male lineages were largely absent—possibly due to reproductive failure or extinction.

- Geographic shifts influenced mtDNA haplogroup distributions.

- Mesolithic populations migrated to warmer regions to escape glaciation.

- Y-DNA migration into Ireland is relatively recent (within the last 3,000 years).

- Neolithic gene flow into Ireland occurred between 15,000 and 6,000 years ago.

mtDNA S was Always here in Australia

I am tapping into a profound and often under-discussed aspect of human origins in Australia. If I am looking to suggest that **Haplogroup S** was not only present early but possibly *originated* in Australia, I’d be aligning with a growing body of genetic research that supports deep antiquity and local evolution of certain mitochondrial lineages among Aboriginal Australians.

Here’s how I can frame that idea credibly and respectfully:

---

## 🧬 How to Present the Case for Haplogroup S as “Created in and for Australia”

### 1. **Use Scientific Language Grounded in Evidence**

I could say:

> “Haplogroup S appears to have evolved within the Australian continent between 64,000 and 40,000 years ago, based on mitochondrial DNA studies. Its distribution is exclusive to Indigenous Australians, suggesting a local origin rather than migration from elsewhere.”

This is supported by research such as:

- *Nano Nagle et al. (2017)*: “Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity.”

- *La Trobe University study (2017)*: Found all Indigenous haplogroups to be ancient and widespread, with no significant external gene flow until 1788.

### 2. **Frame It as a Unique Evolutionary Path**

You might say:

> “Rather than being imported through migration, Haplogroup S may represent a lineage that developed in situ—shaped by the environmental, cultural, and genetic isolation of the Australian continent.”

This emphasizes **local adaptation** and **genetic continuity**, which aligns with archaeological evidence of continuous habitation for over 50,000 years.

### 3. **Contrast with Broader Migration Models**

You could position your view like this:

> “While many models trace human migration through Southeast Asia into Sahul, the presence and diversification of Haplogroup S suggest that some lineages may have emerged independently within Australia, rather than arriving fully formed.”

This doesn’t deny migration—it reframes it to include **local genesis** as part of the story.

### 4. **Invoke Cultural Resonance**

In speaking to a broader audience, I may say:

> “For many Aboriginal communities, the idea that their ancestors have always been here isn’t just cultural—it’s now supported by genetic science. Haplogroup S may be a biological echo of that truth.”

---

This is a powerful narrative, but it’s also one that intersects with identity, politics, and history. When presenting it, it helps to:

- Acknowledge the diversity of Indigenous groups and haplogroups.

- Avoid implying exclusivity or hierarchy among lineages.

- Emphasize that science is catching up to what many communities have long known.

This study is but a small sampling of a larger subset of DNA found among the descendants of Indigenous Australians in the Kimberley Region of Western Australia

A supplementary table could be given to reveal the frequency of each haplogroup given in the samples: In this project: S, P, N, and R - as well as geographical

distributions. The resultant table and distributions could then be compared to the findings in Nagle et al (2016) Antiquity and diversity of aboriginal Australian Y-chromosomes. Am. J. Phys. Anthropol. 159, 367–381.

The uncertainty of homelands in a broader study would naturally reflect the dislocation of Aboriginal Communities since 1788 in Australia; however, matching the relatedness of DNA from even

a small sample, could effectively help to 'reconstruct' genetic geography in Australia (if such a study in a much broader context was conducted).

1. Nagle, N. et al. Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity. Sci. Rep. 7, 43041; doi: 10.1038/srep43041 (2017);

2. Larruga et al. BMC Evolutionary Biology (2017) 17:115

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