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The Origins of White Skin

The study of human pigmentation, particularly the origins of white skin, intertwines anthropology, genetics, and evolutionary biology. Understanding how and why skin color diversified requires an exploration of migration patterns, environmental adaptation, and genetic mutations that shaped the physical diversity among humankind. This essay will explore the scientific, historical, and sociocultural dimensions of white skin evolution through an integrative scholarly lens.

The terms “white” and “black” are social and symbolic designations, not literal reflections of human pigmentation. Scientifically and anthropologically, all humans fall along a spectrum of brown skin tones determined by melanin concentration, hemoglobin visibility, and other pigmentary factors.

In biological terms, skin color arises from three main pigments: melanin, carotene, and hemoglobin. Melanin, produced by melanocytes, gives skin its brown to dark brown shades. Carotene adds yellow or golden undertones, while hemoglobin contributes pink to red hues visible through lighter skin. Therefore, so-called “white” people actually possess light beige or pinkish skin tones, influenced by low melanin levels and higher visibility of underlying blood vessels (Jablonski, 2021).

Similarly, “black” skin is not black in the literal sense but represents varying concentrations of eumelanin that create rich brown tones ranging from bronze to deep espresso. Under sunlight, darker skin often reveals golden, red, or blue undertones rather than pure blackness. This continuous gradation underscores that human pigmentation exists along a chromatic continuum, not binary categories.

The labels white and black originated during European colonial expansion to reinforce social hierarchies, not biological realities. In the 17th and 18th centuries, racial theorists used color as a metaphor for moral and intellectual worth—“white” symbolizing purity and civilization, and “black” denoting savagery and sin (Smedley & Smedley, 2011). These associations, rooted in ideology rather than anatomy, shaped enduring racial constructs that persist today.

Modern genetics and anthropology confirm that all humans share over 99.9% identical DNA, and differences in skin color are governed by a handful of genes (Norton et al., 2007). Thus, color terminology reflects cultural identity and historical power dynamics more than any genuine biological division.

In truth, all people are various shades of brown—from the lightest ivory to the deepest mahogany—demonstrating our shared origin and diversity within unity. As the biblical verse reminds, “And hath made of one blood all nations of men” (Acts 17:26, KJV). Science and scripture converge here: humanity’s distinctions are aesthetic and adaptive, not hierarchical.

Early human populations originated in sub-Saharan Africa, where high ultraviolet radiation levels favored dark skin pigmentation rich in melanin. Melanin serves as a natural barrier protecting the skin from UV-induced damage and degradation of folate, an essential nutrient for reproductive success (Jablonski & Chaplin, 2010). Thus, the earliest Homo sapiens possessed dark skin as a biological adaptation to equatorial sunlight.

As human groups migrated northward out of Africa roughly 60,000 years ago, they encountered regions with lower UV exposure. In these environments, dark pigmentation became less advantageous. To maintain adequate vitamin D synthesis—a process reliant on UV-B radiation—lighter skin gradually evolved through natural selection (Norton et al., 2007).

One of the most significant genetic factors in light skin evolution is the SLC24A5 gene. A single nucleotide change in this gene (Ala111Thr) is strongly associated with light pigmentation among Europeans (Lamason et al., 2005). This mutation, which likely arose around 8,000 years ago, spread rapidly due to selective pressures in northern latitudes where sunlight was weaker.

Another key gene, SLC45A2, also contributes to depigmentation in European populations (Stokowski et al., 2007). Together with TYR and OCA2 genes, these variants represent a cluster of evolutionary adaptations that reshaped melanin production, producing the light skin phenotypes common in Europe.

The emergence of white skin was not instantaneous but gradual. Genetic modeling suggests multiple independent depigmentation events occurred among non-African populations. East Asians, for example, developed lighter skin through different genetic pathways (notably the DCT and MFSD12 genes), demonstrating convergent evolution (Yamaguchi et al., 2018).

Archaeogenetic evidence indicates that early Europeans, such as the Mesolithic hunter-gatherers of Western Europe, still had dark skin and blue eyes (Olalde et al., 2014). It was only during the Neolithic agricultural revolution—when farming spread from the Near East—that genes for lighter skin became dominant in Europe.

This agricultural transition likely accelerated depigmentation. Diets deficient in vitamin D due to reduced consumption of animal products made lighter skin advantageous for efficient synthesis of the vitamin from limited sunlight (Hofmanová et al., 2016). Thus, whiteness as a phenotype arose through both environmental and dietary adaptation.

Cultural evolution soon intersected with biological change. As populations developed hierarchies, skin color became symbolically charged—first as a marker of regional origin, later as a social construct of superiority and purity (Smedley & Smedley, 2011). The scientific origins of white skin were therefore overlaid by ideological meanings during the rise of European colonialism.

European societies, beginning in the Renaissance and Enlightenment periods, reinterpreted physical difference through racial taxonomy. Thinkers like Linnaeus and Blumenbach used skin color to classify humanity, cementing whiteness as the “norm” of civilization (Eze, 1997). These frameworks distorted evolutionary diversity into hierarchical racial structures.

The biological reality, however, undermines these racialized assumptions. Modern genomic data reveal that skin color variation represents a small portion of overall genetic diversity among humans—roughly 0.1% of total DNA difference (Lewontin, 1972). Thus, “race” is more a sociopolitical invention than a biologically discrete category.

The theological narrative also influenced perceptions of white skin. In medieval Europe, depictions of Adam and Eve as white reinforced Eurocentric conceptions of divine image-bearing, contrasting with African and Semitic biblical origins (Goldenberg, 2003). This ideological whiteness would later justify slavery, colonialism, and systemic inequality.

Anthropologically, lighter skin in Eurasia should be seen not as superiority but as regional adaptation. It parallels the Inuit’s dietary vitamin D compensation or the dark skin retention of equatorial peoples despite varying UV exposure—each reflecting environmental equilibrium rather than hierarchy (Jablonski, 2021).

The adaptation process reveals the remarkable plasticity of the human genome. Mutations in pigmentation genes often occurred within a few thousand years—a rapid pace in evolutionary terms—demonstrating the strong influence of climate and diet on phenotype (Liu et al., 2015).

Moreover, studies of ancient DNA reveal that pigmentation genes continued evolving even in historical times. For example, the allele for light eyes and skin (HERC2/OCA2) rose in frequency in Europe during the Bronze Age (Mathieson et al., 2015). This continuous selection underscores skin color as a dynamic trait rather than a fixed racial essence.

Socially, the valorization of whiteness became a cultural invention with far-reaching consequences. Colonial narratives equated light skin with intelligence, civility, and divine favor—distortions that persist in global colorism today (Hunter, 2013). The origin of white skin, therefore, cannot be divorced from the ideologies it later inspired.

Biomedically, understanding the genetics of pigmentation informs research into health disparities. Lighter skin correlates with higher risks of UV-related cancers and folate deficiency, while darker skin populations in northern latitudes face vitamin D deficiencies (Nina et al., 2019). Both extremes highlight the adaptive trade-offs of human evolution.

The story of white skin also illustrates humanity’s shared ancestry. Despite visible differences, all modern humans trace their lineage to a common African origin roughly 200,000 years ago (Stringer, 2016). Skin color differences merely represent evolutionary responses along a continuum of adaptation.

From a spiritual-humanistic perspective, these findings reaffirm the unity of mankind. As the Apostle Paul declared, “And hath made of one blood all nations of men” (Acts 17:26, KJV). Scientific inquiry thus harmonizes with scriptural truth: diversity is divine design, not division.

Contemporary discussions on race and identity must therefore distinguish between biological pigmentation and sociocultural constructs. Whiteness as an identity emerged not from genetics but from power, empire, and ideology—constructed upon natural adaptation but weaponized through social stratification.

Ultimately, the origins of white skin testify to human resilience and adaptability. Our ancestors’ capacity to evolve physically, migrate globally, and adapt spiritually underscores the interconnectedness of all humanity under one Creator.

Science continues to demystify color, revealing that beneath the epidermis lies a shared human essence. In understanding how white skin evolved, we come closer to transcending the myths it inspired and embracing the unity embedded in our DNA.

References

Eze, E. C. (1997). Race and the Enlightenment: A reader. Blackwell.
Goldenberg, D. M. (2003). The curse of Ham: Race and slavery in early Judaism, Christianity, and Islam. Princeton University Press.
Hofmanová, Z., et al. (2016). Early farmers from across Europe directly descended from Neolithic Aegeans. Proceedings of the National Academy of Sciences, 113(25), 6886–6891.
Hunter, M. (2013). Race, gender, and the politics of skin tone. Routledge.
Jablonski, N. G., & Chaplin, G. (2010). Human skin pigmentation as an adaptation to UV radiation. Proceedings of the National Academy of Sciences, 107(Suppl 2), 8962–8968.
Jablonski, N. G. (2021). Living color: The biological and social meaning of skin color. University of California Press.
Lamason, R. L., et al. (2005). SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science, 310(5755), 1782–1786.
Lewontin, R. C. (1972). The apportionment of human diversity. Evolutionary Biology, 6, 381–398.
Liu, F., et al. (2015). Genetics of skin color variation. Annual Review of Genomics and Human Genetics, 16, 99–120.
Mathieson, I., et al. (2015). Genome-wide patterns of selection in ancient Eurasians. Nature, 528(7583), 499–503.
Nina, G., et al. (2019). Pigmentation and health: The evolutionary legacy of skin color adaptation. Nature Reviews Genetics, 20(10), 705–718.
Norton, H. L., et al. (2007). Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Molecular Biology and Evolution, 24(3), 710–722.
Olalde, I., et al. (2014). Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature, 507(7491), 225–228.
Smedley, A., & Smedley, B. D. (2011). Race in North America: Origin and evolution of a worldview. Westview Press.
Stokowski, R. P., et al. (2007). A genomewide association study of skin pigmentation in a South Asian population. American Journal of Human Genetics, 81(6), 1119–1132.
Stringer, C. (2016). The origin and evolution of Homo sapiens. Philosophical Transactions of the Royal Society B, 371(1698), 20150237.
Yamaguchi, Y., et al. (2018). Diverse pathways to depigmentation: Evolution of light skin in different human populations. Pigment Cell & Melanoma Research, 31(3), 338–350.

Genetics of a People: The Science of Ancestry and Haplogroups.

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In the search for identity, few tools have been as revolutionary as the study of genetics. Modern science allows us to trace human migrations, family lineages, and even ancient biblical connections through markers passed down in DNA. Among these markers, haplogroups—clusters of related genetic signatures inherited from a common ancestor—offer profound insights into the origins and journeys of entire peoples.

For those of African descent, haplogroup studies are especially significant. Y-DNA haplogroup E1b1a (E-M2), for instance, is one of the most common paternal lineages among West and Central Africans, regions heavily impacted by the transatlantic slave trade (Underhill et al., 2000). This same lineage is carried today by millions of African Americans, linking them genetically to ancestral homelands. Mitochondrial DNA (mtDNA), inherited maternally, likewise carries the story of women whose resilience sustained generations through migration, captivity, and survival.

What makes these findings powerful is not merely the science, but the resonance they have with Scripture. The Bible often speaks of “seed,” “bloodline,” and “generations” as carriers of both covenant and identity (Genesis 17:7; Deuteronomy 7:9, KJV). In this sense, haplogroups can be viewed as scientific confirmations of heritage and continuity, testifying to the endurance of a people across time and dispersion.

Understanding haplogroups does more than satisfy curiosity—it challenges the narratives of erasure imposed by colonialism and slavery. It allows descendants of the African diaspora to reclaim history not just through oral tradition or written record, but through the very code of their being. Genetics, then, becomes both a science and a witness, affirming that identity is neither lost nor forgotten, but inscribed in every cell.


📖 References

  • Underhill, P. A., Shen, P., Lin, A. A., Jin, L., Passarino, G., Yang, W. H., … & Oefner, P. J. (2000). Y chromosome sequence variation and the history of human populations. Nature Genetics, 26(3), 358–361.
  • Holy Bible, King James Version.

The Genetics of Black People #thescienceofblackbeauty

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The genetics of Black people provides a profound window into human history, identity, and resilience. Through the lens of science, anthropology, and biblical reflection, one discovers that African-descended populations carry the richest genetic diversity on Earth. This diversity not only traces back to the earliest human origins but also tells the story of migration, adaptation, and survival. To understand Black genetics is to understand the foundations of humanity itself.

Africa as the Genetic Cradle

Modern genetics affirms what archaeology and anthropology have long suggested: Africa is the cradle of humanity. Studies of mitochondrial DNA (mtDNA) and Y-chromosome lineages confirm that all modern humans trace their ancestry to Africa approximately 200,000 years ago (Tishkoff et al., 2009). This means that the genetic diversity seen among Black people is not only vast but also foundational to the human story.

Haplogroups and Lineages

Among African and African diasporic populations, haplogroups such as E1b1a are highly prevalent. This Y-DNA lineage is especially common among West and Central Africans, as well as among African Americans and Afro-Caribbeans (Underhill et al., 2001). Such markers provide genetic evidence of ancestral ties that link dispersed Black populations back to Africa, particularly the regions most affected by the transatlantic slave trade.

Melanin as a Genetic Gift

One of the most visible genetic traits of Black people is melanin, the pigment responsible for skin color. Far from being a mere aesthetic trait, melanin serves as a protective adaptation against ultraviolet radiation. It reduces the risk of DNA damage while regulating vitamin D synthesis (Jablonski & Chaplin, 2000). In biblical reflection, one could argue that melanin symbolizes divine design: “I am black, but comely” (Song of Solomon 1:5, KJV).

Adaptation and Survival

Genetics reveals that traits common among African populations were shaped by evolutionary pressures. For example, the sickle cell trait—a genetic adaptation—provides resistance against malaria, a deadly disease endemic to parts of Africa. This illustrates how Black genetics embodies survival strategies written into DNA through centuries of environmental challenges.

The Transatlantic Slave Trade and Genetic Disruption

The forced displacement of millions of Africans through the transatlantic slave trade disrupted genetic continuity, yet it also created new diasporic lineages. African Americans, for example, typically show a mixture of West and Central African ancestry, with smaller proportions of European and Native American ancestry due to centuries of enslavement, coercion, and survival (Bryc et al., 2015). Genetics, therefore, serves as a testimony of trauma but also of resilience.

Diaspora Diversity

The African diaspora is far from monolithic. Afro-Caribbeans, Afro-Latinos, and African Americans all share African genetic roots but reflect distinct admixture histories. For instance, Afro-Brazilians often display higher proportions of African ancestry compared to African Americans, due to Brazil’s massive role in the slave trade (Telles, 2004). Yet across the diaspora, the shared thread is an undeniable African genetic legacy.

Health Implications in Genetics

The genetics of Black people also intersects with health in powerful ways. Certain conditions such as hypertension and diabetes are disproportionately prevalent among African-descended populations, influenced not only by genetics but also by systemic inequalities (Gravlee, 2009). Understanding genetic predispositions must go hand in hand with addressing structural racism in healthcare.

Misuse of Genetics in Racism

History has shown how genetics was misused to justify slavery, colonialism, and segregation. Pseudoscientific racism claimed that Black people were biologically inferior. Modern genetics refutes these falsehoods, affirming that race is a social construct, while genetic diversity within Africa surpasses that of all other continents combined (Lewontin, 1972).

Biblical Reflections on Ancestry

The Bible teaches that all humanity is made in the image of God (Genesis 1:27, KJV). Yet for Black people, genetics and scripture converge in unique ways. Deuteronomy 28 has been interpreted by some as prophetic, aligning the experiences of the African diaspora with the curses of Israel. While debated, this perspective connects genetics, history, and spiritual identity in profound ways.

Marriage of Science and Scripture

Rather than conflict, genetics and scripture can complement one another. Science reveals the pathways of migration and adaptation, while scripture reminds us of divine purpose. Acts 17:26 (KJV) declares: “And hath made of one blood all nations of men for to dwell on all the face of the earth.” This verse resonates deeply with the genetic truth that all humans share common African ancestry.

Genetics and Identity Formation

For many Black individuals, DNA testing has become a tool for reclaiming lost heritage. Commercial genetic tests allow descendants of the diaspora to trace their lineages back to specific African regions. This process provides not only scientific validation but also psychological healing from centuries of disconnection caused by slavery.

Psychology of Genetic Roots

Psychology suggests that knowing one’s ancestry strengthens self-esteem and identity formation (Phinney, 1990). For Black people, genetic awareness can counter narratives of erasure. By affirming African origins and resilience, genetics helps restore pride and a sense of belonging within the larger human family.

🧬 The Genetic Makeup of Black People

1. Genetic Diversity in Africa

Science shows that people of African descent carry the highest genetic diversity in the world. This is because Africa is the cradle of humankind, where modern Homo sapiens first evolved about 200,000 years ago (Tishkoff et al., 2009). Populations that migrated out of Africa carried only a subset of this genetic variation, which makes non-African groups less genetically diverse.


2. Haplogroups in African Populations

One of the most common paternal lineages in Sub-Saharan Africa is the Y-DNA haplogroup E1b1a. It is especially dominant among West and Central Africans and their descendants in the Americas due to the Transatlantic Slave Trade (Wood et al., 2005).

On the maternal side, African women often carry mtDNA haplogroups L0–L3, some of the oldest lineages in the world. These haplogroups trace directly back to the first mothers of humanity (Salas et al., 2002).


3. Skin Color and Melanin

The dark skin of Black people is due to high melanin production (specifically eumelanin). This adaptation evolved in Africa to protect against ultraviolet (UV) radiation, reducing risks of skin cancer and preserving folate, a vitamin essential for reproduction (Jablonski & Chaplin, 2010).


4. Health and Genetic Traits

Certain genetic traits in African populations arose as adaptations to local environments. For example:

  • The sickle-cell trait provides protection against severe malaria, which is widespread in Africa (Kwiatkowski, 2005).
  • Variants in the Duffy antigen receptor gene protect many West Africans from Plasmodium vivax malaria (Miller et al., 1976).

However, these adaptations can have trade-offs. For instance, carrying two sickle-cell alleles leads to sickle-cell disease.


5. Admixture and the Diaspora

Black populations outside Africa, especially in the Americas, often have mixed ancestry. African Americans, for example, typically have West and Central African ancestry but also varying degrees of European and Native American admixture due to historical slavery, colonization, and forced mixing (Bryc et al., 2015).


6. Genetics, Identity, and Misuse

Science has confirmed that while genetic diversity exists, race is not a strict biological category. Instead, it reflects clusters of ancestry shaped by migration and geography. Unfortunately, genetics has been historically misused to justify racism. Today, genetic studies highlight shared humanity and deep African origins of all people (Graves, 2005).


📖 Biblical Reflection (KJV)

  • “And hath made of one blood all nations of men for to dwell on all the face of the earth” (Acts 17:26).
  • “I will say to the north, Give up; and to the south, Keep not back: bring my sons from far, and my daughters from the ends of the earth” (Isaiah 43:6).

Genetic Continuity Across Generations

Despite centuries of oppression, African-descended people carry forward genetic continuity that cannot be erased. Each generation inherits not only biological traits but also stories of endurance. Psalm 139:14 (KJV) reminds us: “I will praise thee; for I am fearfully and wonderfully made.” Genetics affirms this biblical truth.

Cultural Implications of Genetics

Black culture—music, food, language, and spirituality—often reflects deep genetic memory. Anthropologists note that certain rhythms, agricultural practices, and even healing traditions among diasporic communities trace back to African roots. Genetics, therefore, is not only biological but also cultural.

The Ethics of Genetic Research

While genetic science holds promise, ethical considerations remain. Historically, Black communities have been exploited in medical and genetic research, such as the Tuskegee Syphilis Study. Thus, the pursuit of genetic knowledge must be grounded in justice, equity, and respect.

Future of Black Genetics

As technology advances, the genetics of Black people will play a central role in medicine, anthropology, and identity studies. Genetic research promises better healthcare outcomes when tailored to African ancestry. Moreover, it enriches global understanding of human origins and diversity.

Spiritual Continuity and Covenant

In scripture, covenant symbolizes continuity. Just as marriage is a covenant binding two into one flesh, so too does genetics bind generations into one continuous story (Genesis 2:24, KJV). For Black people, genetics reveals that despite historical fractures, divine continuity has preserved identity across centuries.

Walk Toward Eternal Truth

Genetics is not merely about physical lineage—it also points toward eternal truth. For believers, DNA testifies of God’s handiwork, inscribed into the very code of life. It calls humanity to unity rather than division, reminding us that science and scripture both declare the dignity of Black people.

Conclusion

The genetics of Black people is a narrative of origins, endurance, and divine purpose. From the haplogroups of Africa to the diasporic survival of slavery, from melanin’s protective gift to the misuse of science in racism, genetics tells a story of resilience. Scripture confirms this dignity, affirming that God’s covenant transcends race and history. To study Black genetics is not only to learn about biology but also to witness the unfolding of both science and spirit in one of humanity’s most profound stories. The genetics of Black people tells a story that stretches from the dawn of humanity in Africa to the present-day struggles for justice and identity. It encompasses haplogroups, slavery, melanin, health, psychology, and theology. More than science, genetics is a living testimony of survival, a record of God’s providence, and a foundation for future generations to reclaim both heritage and destiny.


📚 References

Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015). The genetic ancestry of African Americans, Latinos, and European Americans across the United States. The American Journal of Human Genetics, 96(1), 37–53. https://doi.org/10.1016/j.ajhg.2014.11.010

Gravlee, C. C. (2009). How race becomes biology: Embodiment of social inequality. American Journal of Physical Anthropology, 139(1), 47–57. https://doi.org/10.1002/ajpa.20983

Jablonski, N. G., & Chaplin, G. (2000). The evolution of human skin coloration. Journal of Human Evolution, 39(1), 57–106. https://doi.org/10.1006/jhev.2000.0403

Lewontin, R. C. (1972). The apportionment of human diversity. Evolutionary Biology, 6, 381–398. https://doi.org/10.1007/978-1-4684-9063-3_14

Phinney, J. S. (1990). Ethnic identity in adolescents and adults: Review of research. Psychological Bulletin, 108(3), 499–514. https://doi.org/10.1037/0033-2909.108.3.499

Telles, E. E. (2004). Race in another America: The significance of skin color in Brazil. Princeton University Press.

Tishkoff, S. A., et al. (2009). The genetic structure and history of Africans and African Americans. Science, 324(5930), 1035–1044. https://doi.org/10.1126/science.1172257

Underhill, P. A., et al. (2001). The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Annals of Human Genetics, 65(1), 43–62. https://doi.org/10.1046/j.1469-1809.2001.6510043.x

Bryc, K., Durand, E. Y., Macpherson, J. M., Reich, D., & Mountain, J. L. (2015). The genetic ancestry of African Americans, Latinos, and European Americans across the United States. American Journal of Human Genetics, 96(1), 37–53. https://doi.org/10.1016/j.ajhg.2014.11.010

Graves, J. L. (2005). The race myth: Why we pretend race exists in America. Dutton.

Jablonski, N. G., & Chaplin, G. (2010). Human skin pigmentation as an adaptation to UV radiation. Proceedings of the National Academy of Sciences, 107(Supplement 2), 8962–8968. https://doi.org/10.1073/pnas.0914628107

Kwiatkowski, D. P. (2005). How malaria has affected the human genome and what human genetics can teach us about malaria. American Journal of Human Genetics, 77(2), 171–192. https://doi.org/10.1086/432519

Miller, L. H., Mason, S. J., Clyde, D. F., & McGinniss, M. H. (1976). The resistance factor to Plasmodium vivax in Blacks: The Duffy-blood-group genotype, FyFy. New England Journal of Medicine, 295(6), 302–304. https://doi.org/10.1056/NEJM197608052950602

Salas, A., Richards, M., De la Fe, T., Lareu, M. V., Sobrino, B., Sánchez-Diz, P., … & Carracedo, Á. (2002). The making of the African mtDNA landscape. American Journal of Human Genetics, 71(5), 1082–1111. https://doi.org/10.1086/344348

Tishkoff, S. A., Reed, F. A., Friedlaender, F. R., Ehret, C., Ranciaro, A., Froment, A., … & Williams, S. M. (2009). The genetic structure and history of Africans and African Americans. Science, 324(5930), 1035–1044. https://doi.org/10.1126/science.1172257

Wood, E. T., Stover, D. A., Ehret, C., Destro-Bisol, G., Spedini, G., McLeod, H., … & Hammer, M. F. (2005). Contrasting patterns of Y chromosome and mtDNA variation in Africa: Evidence for sex-biased demographic processes. European Journal of Human Genetics, 13(7), 867–876. https://doi.org/10.1038/sj.ejhg.5201370