The ancient gene marker ‘M130’ discovered in 14 people in Jothimanickam village outside Madurai proves that the first human migration out of Africa into India took place 70, 000 years ago. Brittany Shamess and Allen Worwood unravel the complex genetic mystery.
Over the course of one’s life, it is not uncommon to ask the question: Who am I? Unfortunately, this question has proven to be particularly challenging, and people often struggle to find a definitive answer. Today, thanks to the genius that is genetics and perhaps a little bit of luck, scientists have managed to answer at least one aspect of this multifaceted question. After discovering the ancient gene marker ‘M130’ in 14 people in Jothimanickam, a village outside of Madurai, scientists were able to confirm the first human migration out of Africa that took place 70, 000 years ago. That is to say, scientists have been able to verify that every single human being has the same ancestors from Africa.
A Series of Convergences
As we sat down to talk with immunologist Dr. RM. Pitchappan, a driving force behind the discovery, we realised how remarkable it is that one gene mutation has proven to be the missing puzzle in the greatest human journey and just how fascinating it is that the discovery was made. As Pitchappan puts it, “All discoveries are accidents,” and this one is certainly no different.
Talking with Dr. RM. Pitchappan, we get a first hand account of how this amazing discovery came together. The story begins in the 1980s, when Dr. Pitchappan was researching the immunological basis for tuberculosis and leprosy at the Madurai Kamaraj University. After collecting DNA samples from various populations in Madurai and its surrounding area, Pitchappan became fascinated by Jothimanickam village, where one in two of its inhabitants have the gene disposing them for both tuberculosis and leprosy. Little did he know, in a few years time the genes of those same inhabitants would lead him into a completely different field of research.
Owing to the comprehensive nature of Pitchappan’s DNA samples, they have been in high demand by other researchers interested in India. To avoid complications, however, Pitchappan had declined to share the samples with other scientists until one fated day in Oxford. While at the university as a guest lecturer, Pitchappan met a young scientist working for Spencer Wells. Wells, arenownedgeneticist and anthropologist, had previously asked Pitchappan for his Indian DNA samples and been refused. Nevertheless, Pitchappan met with Wells again in Oxford after the chance encounter with Wells’ colleague.
DNA: The Missing Link
Wells was working on a human migration project and was tracking the first human migration out of Africa. Archeological evidence proved that our ancestors left Africa and traveled to Australia, but there was no archaeological remains to suggest that they traveled across the coast of India. Wells was stumped and needed Pitchappan’s DNA samples to see if perhaps evidence of the coastal migration remained in the genes of India’s people. Fortunately, Wells’ second meeting with Pitchappan convinced the scientist of the significance of the project and Pitchappan agreed to contribute his Indian DNA samples to the project.
“Everything was done in two weeks, it was very fascinating,” recalls Dr. Pitchappan. The research had been completed so quickly because Wells had struck gold with Pitchappan’s DNA samples. Jothimanickam, the very village that had fascinated Pitchappan so many years ago was found to be the home of 14 people with the M130 gene. Why is the M130 gene marker so important? M130 is a mutation that can be found on the Y chromosome. The Y chromosome is responsible for male sex characteristics and certain sections of it pass from father to son without any change. M130 is one of the most ancient gene markers and is carried by descendents of the African migrants. Essentially, the identification of the M130 gene in the surrounding area of Madurai proves that the first human migration to Australia was embarked upon via India. It also means that the 14 people with the M130 gene in the Jothimanickam are direct descendants of the first settlers in India.
One of the 14 people to have the M130 marker is a 32-year-old senior systems engineer, Virumandi Andithevar. It was extremely interesting meeting him as he is a proud, direct descendent of the very first settlers of India. It must have been a monumental occasion when one’s entire existence is newly defined in an instant.
From Disbelief to Acceptance
Virumandi says, “Suddenly being told that you have this gene is shocking. Myself, I was shocked.” However, along with this magnificent revelation, there was a genuine downside for Virumandi. When he initially became aware of the gene marker, he was not well received by some people.
“During that time everyone was looking at me like I was another species. Some would say very bad curses.” Fortunately, with the help of Dr. Pitchappan and Wells, Virumandi and his acquaintances were ultimately able to better understand what this marker means, and he has since then become somewhat of a celebrity. Dealing with his new found fame quite well, Virumandi has been quick to understand the social significance of the discovery.
Unity, the Only Reality
When asked what these findings meant to him, Virumandi responded, “All the families in the world have a single father. The only differences are colours and languages.”
In fact, Virumandi isn’t the only person to realise how exciting this discovery is - finding the M130 marker in the Jothimanickam village initiated a series of fascinating research projects. When all of the samples were collected and analysed, Pitchappan, Wells and their team of researchers published the first article on coastal migration in the PNAS journal in 2001. The scientific article was published in 2001 and is titled The Eurasian Heartland: A continental perspective on Y-chromosome diversity. It details their scientific research and explains how gene markers can expose historical migrations and patterns of settlement.
The article was incredibly well received and even raised considerable interest from National Geographic and IBM. In 2005, The Genographic Project was launched as a global research project to map how humans populated the planet - it is led by Wells and funded by National Geographic and IBM. Eleven laboratories spread across five continents have been set up to collect samples and analyse the DNA—one of them in Madurai.
The Genographic Laboratory is located at the School of Biological Sciences at the Madurai Kamaraj University and is headed by Pitchappan. His research centre has received one million dollars from the Project and has been able to purchase state of the art equipment, computers and other field technologies. “Before we didn’t have the technology to handle all of this data,” explains Pitchappan, but once the high quality equipment was installed they became capable of testing DNA samples at a much faster rate and collect even more samples.
Casting the Net Far and Wide
As Arun Kumar, one of Dr. Pitchappan’s assistants explained to us, “Populations have been sampled either at random or by village and particular caste system.” A saliva sample is obtained from each person and taken back to the laboratory for genotyping. While thousands of Indians have already been sampled, Arun Kumar is confident that they will soon reach their goal of thirty thousand samples, roughly one thousand from each state of India. Such wide-ranging samples will be of incredible value for understanding the diversities in India. Pitchappan explains that the DNA samples will give us information on the origin of the dispersal of people in India, how the cultural developments probably occurred, as well as where expansions, isolations and migrations occurred. In fact, they have already been able to determine that a huge expansion in the human population took place in India thousands of years ago.
Along with the Genographic Project, two insightful documentaries have emerged out of the M130 discovery in Madurai. In 2003, Wells released Journey of Man and in 2007 The Story of India was broadcast by BBC and presented by historian Michael Wood. The documentaries have different focuses, but both interview Virumandi and draw attention to the M130 marker’s historical, anthropological and social significance. Additionally, since the findings of the Genographic Project have yet to be released to the public, these documentaries have been immeasurably important in bridging the divide between science and the public understanding of it.
Taking Science to People
As Pitchappan puts it, “Science is one thing, but taking science to the people is something different.” Wells’ documentary does an excellent job of answering some of the questions the public might have. For example, an explanation for the lack of archaeological remains in India is given. It is suggested that ancient cities have been lost to the sea on the coast line, or even that cultural changes, like the British occupation may have played a role in the disappearance of evidence.
Despite the clarity of the documentary, we still had several unanswered questions. Firstly, the term ‘coastal migration’ raises a multitude of questions in our minds. How did our ancestors, with nothing but their feet to carry them, manage to travel all the way from their homeland to India and beyond? Why did they leave in the first place? Were they forced to leave, or was it voluntary?
In Search of New Horizons
According to Arun Kumar, there were climatic problems due to the Ice Age. Drought had caused the sea to recede 40 kilometers and there was no longer any opportunity to eat sea food – humanity was on the verge of extinction. So basically, the theory is that humans were forced to look for new horizons as the new climate made it difficult for them to find adequate food. The answer to ‘how’ they made the move is incredibly simple: because they had to. Their lives were at stake and with that knowledge, remarkable feats of stamina and endurance allowed them to travel hundreds of miles before finally reaching India.
Still, we must ask: Given the fact that people settled into India 70, 000 years ago, how on earth has the gene marker survived all of those years? Again, Arunkumar provided the answer. The Jothimanickam village is quite isolated and practices endogamy. That is, they only marry within their particular caste in the village. Because of this ancient tradition, the genes and their markers of the Jothimanickam people have been preserved and kept relatively pure.
It is obvious that Arun Kumar is very passionate about the genetic significance, but also extremely happy about the significance of the findings in terms of anthropology. “It is an answer everyone wants to know: where did I come from? So it is very exciting to know what route my ancestors took to get where we are today.”
Genetics throws Light on Human Evolution
As journalists, we simply had to put the question to him, are there any doubts? Any disputes over the findings? Arunkumar was resolute, “The discovery of the M130 marker in India proves that people migrated from Africa to India. There is no archeological evidence to suggest that humans passed through India to get to Australia, but the DNA proves that this migration did in fact happen.”
A Mammoth Trek
The significance of these findings should not be downplayed, nor restricted to historical importance. While Africa is the birthplace of humanity, it can now be said that India nourished humanity. It is in this wonderfully fertile country that our ancestors came to before venturing out into Australia, Europe and other parts of Asia. It is here that our ancestors rested after their mammoth trek from Africa, regaining their strength by feasting off the fertility and sustaining nature that is India.
Furthermore, the importance of these findings span further than just India.
The World’s a Family
As Pitchappan puts it, “Humanity is the same.” We have this notion that race exists because we can’t see past skin colour; but in reality we all share the same DNA on the inside – we are all one people. The differences in our skin colour are merely evolutionary traits, occurring over time according to the whims of the climate – It is only natural that one should have darker skin to avoid damage from the hot sun, and lighter skin to allow in more sunlight and trigger vitamin D production.”
Regrettably, the very differences bestowed upon humans to ensure their survival are now the reason behind so much strife and irrational hatred. Humanity could do well to take a look at the Genographic Project to remember just how much our ancestors had to endure to populate the planet; to understand the meaning behind the saying “We are all products of our environment”; and to reflect on the fact that we are all one big family.