Binah Meir was distracted. Looking out the window of his office at The Weizmann Institute Crown Human Genome Center in Rehovot however did not offer much of a diversion. Rehovot was a little off the beaten track between Jerusalem and Tel Aviv. If not for the Weizmann Institute, Rehovot may not have had been easy to find on the map. Amit Amnon, his coworker stuck his head in to say good morning and to suggest that Binah might want to stop gazing out his window.
They both knew that the continuing study of random genetic markers from remote communities was no longer was exciting as it used to be. Little new advancements in the Human Genome Project had been revealed since 2010. Once the Human Genome Project had mapped the human genome and random samples of people of all ethnicities were tested, the Y chromosome haplogroups and the mtDNA haplogroups had been identified. Differences and similarities in the gene sequences could tell how they were related and the rate of mutation had been used to date the origin of each ethnic haplogroup. The number of haplogroups and a uniform designation was the subject of most new papers. All humans had originated in Africa and spread out slowly from there. Seldom could you find two papers on the subject with the same number and alphabetic-numerical designations of Y chromosome haplogroups showing distinct patriarchal lineages that had been identified. The number and the alphabetical designations depended on whose papers you read. There were super classes and subclasses recognized and counted by some but not by others. The same confusion existed over the mitochondrial DNA, abbreviated as mtDNA, haplogroups of the matrilineal lineages. To say that the new science was confusing was an understatement. But for laymen, it had been oversimplified to make their test results comprehensible.
But despite the confusion, the Israeli government had taken an interest in both Y chromosome haplogroups and mtDNA haplogroups. For now, you did not have to rely on studying a person’s genealogy to know if they were Jewish or not. A DNA test in women could identify if she had Jewish mtDNA; a DNA test in men could identify if he had a Jewish Y chromosome and if he had Jewish mtDNA. So the genetic testing across Israel of isolated communities continued. Binah Meir and others at the Weizmann Institute and the Hadassah- Hebrew University Medical Center in Jerusalem were still collecting samples and doing tests.
Binah had not returned to his regional community DNA test statistics when Amit came in his office with a folder of new DNA test results. “Binah, I think you should take a look at this. I cannot make sense of it”. “Where did this sample come from?” “Haifa”. Binah was confused. “A sample from Haifa, probably the third most widely tested city in Israel, and we have DNA results that do not make sense?” Amit was equally surprised. “I know! How could we find a group in Haifa that does not fit into the database? But, this one does not”.
Binah started going over the DNA tests and comparing the results to the database of all known haplogroups. Soon, he realized why Amit had been bewildered. He could not find these Y chromosome or mtDNA haplogroups in any database. Perhaps they had discovered a new unknown superclass or subclass of one of the known haplogroups. These DNA sequences differed from all known haplogroups by an abnormally high number of DNA base pairs. The higher number of mutations could indicate an older root haplogroup or a new haplogroup never seen. The higher number of mutations indicated a distant relationship between haplogroups over time. Binah called Amit back into his office. “Amit, this mitochondrial DNA is older than anything we have ever seen! I have barley started with the Y chromosome. I think that it may be a new superclass of a paleolithic branch of a haplogroup.” “Binah, that is why I brought the data to you. I could not identify it. I was hoping you could”. “I will have to dig deeper into comparative DNA databases, but if I find it I will be amazed.” Amit hesitated to leave. “It came from a field worker. I have never met her, but this is not the first time she has sent us samples”. “Who is she?” “Deborah Harari, a graduate student assistant, but she has never sent us anything that we cannot analyze before”. “Well, this time she has found something no one else has ever found.” Binah was obviously disturbed. But, Amit knew that Binah could understand it better than he could if anyone could. “I will leave you to it”. Amit left and Binah started looking for archived comparative paleolithic samples. By the end of the day, he could not identify the sample from any extant DNA haplogroup. In frustration, he left late and returned home.
Binah went to sleep exhausted but unable to let go of the puzzle. He fell asleep thinking back on all the lectures he had ever heard on DNA sequencing studies. He had a bizarre dream that woke him. He had been on Mount Carmel entering a cave. What did this dream have to do with his inability to identify the samples? Then suddenly it dawned on him. He remembered a professor’s lecture regarding DNA sequencing. But, he also remembered what the professor had said that associated it with Mount Carmel.
Early the next morning, Binah rushed to the institute, needing to go to the institute’s library to find older papers on DNA sequencing. But, not papers on an extant species, rather a couple of papers from 2006 and 2010 on the DNA sequencing of a fossil completed at the Max-Planck Institute on Neanderthal DNA sequencing. He collected the data and took it back to his office. After a few hours of careful comparison, he was convinced that this new mtDNA haplogroup was related to Neanderthal DNA, but somehow it was more complete than even the Max-Planck Institute’s results. When Amit came in Binah was excited to share his discovery. Amit came in his office and Binah’s face showed the flush of excitement of discovery. “You figured it out?” “I think I did, but you will not believe it. This mitochondrial DNA is consistent with the mutation rate for thirty millennia from Neanderthal DNA”. “Neanderthal DNA? Are you sure?” “Yes the mitochondrial DNA sequence is not a perfect match. It could not be after thirty thousand years. But, it has more similarities to the recovered mitochondrial DNA of fossil Neanderthals than from modern humans. I do not know about the Y chromosome data. They never recovered Y chromosome DNA from a Neanderthal fossil. But, I know it is not like that of modern humans.” “How can you put the Y chromosome in the same group with the mitochondrial DNA?” Binah paused in thought. “If the mitochondrial DNA is consistent with the known Neanderthal mitochondrial DNA, then perhaps the individual it came from also has a Y chromosome of Neanderthal origin. It is a leap of faith. But, if the individual is from an isolated population with little interbreeding we can hypothesize that the Y chromosome is from the same source. We can compare the mutations in the Y chromosome and show similarities to the mitochondrial DNA. Further testing of his family and community may answer many questions”. “It is a weak scientific argument”. “I know. But, right now it is all the data we have. We know that Neanderthal DNA is 99.5% identical to modern humans. If the mitochondrial DNA is similar to Neanderthal DNA, then if the Y chromosome is similar in mutations and cannot be identified as a known haplogroup, it can be argued that being from the same source, it is Neanderthal too”. “How did you figure it out?” “I dreamt of the cave at Mount Carmel. Neanderthal fossils were discovered there in 1932 and others since in the Galilee. And then I remembered the recent Neanderthal fossil DNA sequencing”. Amit laughed. “I guess that sometimes scientific insight is revealed in strange ways”.
“Can you try to get Deborah on the phone for me?” “I have her contact information in my office. Let us hope that she is in and not in the field”. Amit returned shortly. “Deborah is on line 2″. Binah picked up the phone and to save time he did not mention his hypothesis. All he needed was the source of her sample. “Deborah, I have some interesting news for you. That sample you sent us does not match any known haplogroup in the data base. You may have discovered either an older superclass of modern haplogroups or an entirely unknown haplogroup. But, to proceed we need to do a number of things. First we have to repeat the test results from your initial subject. Then we will need to test as many of his relatives and members of his community as possible. We know that you collected it in Haifa, but what details can you tell me about this individual?” As Deborah spoke, Binah took notes. It was a random sample she took from a town near Mount Carmel. “Deborah, where are you? Amit and I need to come out and help you with this”. Binah continued his notes. Deborah was at a kibbutz southeast of Haifa, Beit Oren. Binah continued taking notes as Deborah gave directions and how to find her once they got there. “Amit! How would you like to take a nice trip up to Haifa?”
Binah and Amit made the hour and a half drive up the coast to Haifa. It was pleasant to take route 2 up the coast when you spend most of your time in the less scenic Rehovot. The only problem was going to be finding their way through Haifa to the kibbutz. On the way Binah and Amit continued their discussion of the Neanderthal hypothesis. “Binah, I am somewhat familiar with the Neanderthal fossils found in the cave at Mount Carmel. But most scholars believe that they went extinct 30,000 years ago without interbreeding with modern humans”. “But they have no evidence of that apart from the disappearance of Neanderthal fossils. Fossils are rare and the lack of them is not proof of extinction. And Neanderthals were not a separate species. There is no reason to conclude that paleolithic modern humans did not interbreed with Neanderthals”. “So why do we not have fossil hybrids?” “That is a problem. It would be nice if we had a hybrid fossil, but the lack of a fossil does not prove that hybrids did not exist. The hominid fossil record is fragmented at best. Some early hominids are known from only one or two partial fossil remains. If paleolithic humans did interbreed with Neanderthals, the results are statistically predictable. It does not matter if it was a Neanderthal male or female mating with a Homo sapiens sapiens male or female. You could have hybrids that had: Neanderthal Y chromosomes and modern human mitochondrial DNA; or Neanderthal mitochondrial DNA and a modern human Y chromosome. And that is only considering the sex chromosomes and matriarchal mitochondrial DNA. We are not even considering the 22 pairs of autosomal chromosomes that determined their physical differences. But scholars are ready to dismiss that they interbred even though we have no way of knowing what a hybrid would be like”. “But we still have modern human fossils after Neanderthals disappeared. So the Neanderthals had to have gone extinct”. “Or, they could have been fully assimilated by interbreeding. The coelacanth was believed to be extinct because they disappeared from the fossil record. And then some fisherman brought a live one up in their nets. So, why not consider the possibility that we simply have not found a Neanderthal hybrid fossil? And, we identify the two subspecies based on a handful of physical differences. Are you sure that you would recognize a Neanderthal hybrid or a surviving Neanderthal if you saw one? They had brow ridges. They had a receding chin. They had a sloping forehead. Their craniums were lower. But all of these traits can to be found to some degree in modern humans. How do we know that these are not remnant Neanderthal characteristics and not variations in human appearance? How do we know what genes were dominant and what genes were recessive? A hybrid might have looked more like a modern human”. Binah followed Deborah’s directions to the Beit Oren kibbutz. Deborah met them in the communal dining hall, which was more of a restaurant. Beit Oren made most of its revenue as a hotel and community and tourist resort. She lived in the single women’s dormitories and used the kibbutz as a base for her field research in Haifa. After dinner and a prolonged discussion of Binah’s Neanderthal haplotype hypothesis, Deborah was even more excited about the possibility that she had found an unknown haplotype whatever its nature. As it grew late, she directed Binah and Amit to an unoccupied apartment in the single men’s dormitory. To calm down after the day’s excitement, they went to the progressive kibbutz’s bar and downed several Maccabee beers and avoided talking about genetics before calling it a night.
In the morning Binah, Amit and Deborah met again in the dining hall. Over breakfast, they went over the isolated communities around Mount Carmel that Haifa had surrounded as it grew: Yokneam, Zikhron Ya’aqov, the Druze town of Carmel City, and the towns of Nesher, and Tirat Hakarmel. Apart from the Druze community, these “villages” had populations over 18,000; Nesher had over 23,000. None of them were small, isolated villages: they were modern suburbs of Haifa. Deborah had collected her sample from a young man, Moshe Zaken, in Tirat Carmel. Binah and Amit tried their best to subtly suggest that a single sample from the community had been too small a sample to get useable data. They suggested that they return to Tirat Carmel, find Moshe and collect a second sample for verification and then interview him as to his parents, aunts, uncles, cousins, and perhaps any wife and children he may have. Deborah had remembered distinctly where Moshe lived and was confident they would find him again. He was not well educated, but he had been cooperative when Deborah approached him, which in itself was a blessing as orthodox men were reluctant to have contact with women. But Moshe did not seem to be ultra-orthodox or overly private. Again, Binah and Amit refrained from lecturing her on her field technique: she should have interviewed Moshe when she collected her single sample. But she was a graduate student and was still learning appropriate scientific method. After they finished eating, they all gathered in Deborah’s small SUV to make the short trip to meet Moshe.
When they got to Tirat Carmel, Deborah did her best to find Moshe Zaken’s shop and home. Binah was curious as to why Deborah had taken a sample from Moshe among over 18,000. “Moshe caught my attention because he looked so different.” Deborah responded, adding “He looked like…a Neanderthal”. Binah noticed that the few people they saw on the street were typical Sephardic types: shorter than average and dark skinned. Amit pointed out from time to time individuals with broad faces and features, especially those with deep set eyes and a heavy brow and a sloping forehead. “If you saw a Neanderthal on the street today, would you they look much different than these people? Did you notice the number of people with a hint of a brow ridge and sloping foreheads?” “I would guess that if you put a Neanderthal in modern dress with a haircut, that they would blend in with the crowd, especially if they had continued to evolve and occasionally married a person who was the typical Haifa resident”.
Deborah had dressed modestly in case they did encounter orthodox residents: she had covered her hair, wore no makeup, and wore a long skirt. She broke her silence. “This is Moshe’s shop”. She pulled her SUV into the nearest parking space and they walked together to the shop. Deborah approached the counter where Moshe worked, but did not extend her hand. Orthodox men did not have physical contact with women outside of their family. Moshe smiled as he recognized Deborah. Deborah introduced Binah and Amit. She introduced them as friends and not as doctors. She at least had an intuitive sense of how to establish informality between scientist and test subject. Leave the science out of it and you are more likely to get cooperation. Binah and Amit tried to look at him critically without being obvious. He had broad nose, a brow ridge, a sloping forehead, and a receding chin that made his mouth more prominent. Under his yarmulke, his cranium was low and rounded set on a thick neck. He was not unusual for a Sephardic man, but he was also a collection of typically Neanderthal features.
“Moshe,” Deborah began, “remember when I took a mouth swab from you a few months ago?” “Yes”, Moshe spoke with a hint of curiosity. “Well the results were rather unusual. And we were wondering if you would let me take another in case I made a mistake”. “I never understood what you were testing for, but it was unusual?” “Yes, so I may have made a mistake in taking the sample” “There is not anything wrong is there?” “Oh, no Moshe! You are healthy but the results…well we could not understand the results”. “What were you looking for?” “Are you familiar with genetics Moshe?” “No. I have heard of it but I do not know what it is about”. “Perhaps my friends can explain it better than I can”. Moshe turned to Binah and Amit. Binah deliberately spoke simply. “Moshe, you know how some people look different from other people. Well genetics is the study of why we look different from each other. And you know how some people, like a brother or a sister can look like someone else in your family. Genetics explains that too”. “We study genetics and why some people look different and why some people look the same”, Amit added. Moshe was confused. “So, why did you not understand my…genetics?” “Well Moshe, we compare the genetics of people all over Israel and we have found that they have some things in common, and some that are different. Yours did not match any one else’s we have seen”. Binah continued, “You do not look that much different from most people, so we expected your sample to be similar to something we have seen before. So we need to make sure that we did our tests right”. Moshe looked relieved. They had not hinted that Moshe was significantly different from anyone else. They had only suggested that they did their tests incorrectly. Moshe would never understand the specifics, just as Binah’s parents and grandparents did not understand. Deborah spoke again. “Can we take another sample? We want to run our tests again. Your genetics should be similar to other people we have tested all over Israel”. “That is alright. I do some things wrong the first time too”. “And Moshe, we would like to test some members of your family too”. “Why?” “You look like other people in your family. So, if we test other members of your family, it will help us to understand your tests. We get our genes from our parents. So your parents, brothers, sisters, maybe aunts and uncles, should have the same test results”. Amit started as though it was a typical conversation between people on meeting. Talking about family was universal. “Moshe, do your parents live here in Tirat Carmel?” “Yes, my entire family lives here. We have always lived here”. “Your grandparents live here too?” “We have never lived anywhere else. We are from Tirat Carmel”. Binah started discretely writing down Moshe’s answers. “Are you parents still living?” “Yes, but they are getting old”. Amit laughed. “Unfortunately we all do that”. Moshe smiled. “Do you have a large family?” “Yes. Momma and papa have many brothers and sisters. I have three sisters and two brothers. My wife and I have three children”. “We would like to meet them sometime. Do you think we could do that?” “Yes, you can come to Tirat Carmel for Shabbat and we can all meet”. “We would not want to impose on you on Shabbat! And, we would want to take notes and if they agree take a sample from them all. Would you like that? We study how people are related to each other. Genetics starts with the family”. Binah hoped that this approach would make their study seem like a family event. “I will talk to them about it on Shabbat”. “How do we get in touch with you?” Moshe wrote down his shop number and his home number and gave it to Binah. “Well, if we give you our number, can you call us after Shabbat and tell us when we can come back to meet your family?” “Yes, I can do that”. “I will give you my phone number. I can relay the information to the others”. They did not want to keep Moshe from his day’s work longer. They had made the first step to gathering more data, even if Moshe did not understand why they were conducting the study. As they parted company, Binah thought it was probably better if they did not know.
When they had left the shop, Binah, Amit and Deborah spoke in soft tones about what they would do next. “Deborah, I gave him my cell phone number. It is Thursday. If they observe Shabbat, we may not hear back from Moshe until Monday. I do not see any reason for Amit and me to stay at the kibbutz while we wait. If we go back to Rehovot we can get a large number of test kits and supplies and be back on Monday within an hour and a half”. “Yes, there is nothing you could do here in Haifa. I have some supplies, but limited access to the institute’s data. If you and Amit come back as soon as he calls, you can bring extra test kits, tape recorders, cameras, whatever you feel you might need. But, I do not think that you are going to want to do more than meet his family”. “We can be discreet. We can tape the entire meeting without taking notes. When can take photographs of the family, if we promise to send copies, it will be just family photographs for them. We can do most everything except take the samples without it appearing to be a typical visit”. “I do not think that Moshe has the education to understand the purpose of our tests and definitely not your Neanderthal hypothesis”. “I think that the less they know the better. I do not intend to deceive them, but I agree that they would not understand what we are trying to document. I think that it is better we keep that to ourselves, for now at least”.
Deborah drove them back to the kibbutz and Binah and Amit immediately prepared to return home to Rehovot. It was still early enough in the day for them to return without spending another night at the kibbutz and Binah and Amit could gather their supplies at the institute on Friday before Shabbat. Their farewell to Deborah was brief. They had covered most of what they planned to do and there was nothing they needed to discuss further. They just needed to hear back from Moshe. Amit hoped that the possibility of finding and describing a surviving Neanderthal haplotype would rekindle Binah’s interest in genetics. On the drive back, Amit deliberately discussed anything but genetics with Binah. They may have been scientists, but Binah especially needed a break from the topic. They parted after they returned to the institute.
Friday they gathered swab test kits, tape recorders, cameras, and everything else they would need. Binah insisted on loading it all in his car before the end of the day so that they would be ready to leave at a moment’s notice not knowing when Moshe might call. As the day ended, they wished each other a good Shabbat. Amit knew that there was wisdom in a day of rest. Binah’s Neanderthal origin hypothesis had become an obsession.
Binah called early Monday. He had heard from Moshe. He had immediately called Deborah. He told Deborah of the time he had agreed to meet Moshe and his family. This gave Deborah an hour and a half to get ready. But, Binah was so anxious to meet Moshe’s extended family that he had arranged everything only to tell Amit and Deborah afterwards. Amit and Deborah might have felt left out, but Binah was their higher ranking coworker at the institute and at some point he was bound to take over. With their supplies already loaded on Friday, all Amit had to do was join Binah for the drive back to Haifa. Binah was silent for most of the drive. They had already discussed their plans and Binah’s mind was in overdrive about the details of the impending analysis of the new samples. Binah stopped at the kibbutz where Deborah was waiting with her SUV and he and Amit quickly transferred their supplies from his car to hers.
The excitement was tangible as they pulled into Tirat Carmel. They parked outside the shop where Moshed and his family lived on the second floor. Moshe me them at the door and led the group in and the house was crowded with his extended family as they had discussed. Binah and Amit both discreetly turned on their miniature recorders to catch ever word so that they would not have to take notes. They had difficulty keeping track of who was who as they were introduced to Moshe’s wife, children, parents, siblings, aunts, uncles and cousins. While Moshe had more physical traits of a Neanderthal than his parents, his brothers and sisters had to different degrees combinations of Neanderthal traits similar to Moshe’s. Binah whispered to Amit his theory that Moshe’s parents had between them some of these traits that were recombined in their children. After a pleasant meal and conversation revolving mostly on restating how everyone was related to each other, Binah and Amit took out their cameras. Binah and Amit worked the crowded house to take photographs of the siblings together, the siblings and their parents, the parents and the aunts and uncles, and the parents with their children. They explained the purpose of the photographs as a family album that they would duplicate for the family as they had planned. Only then did they take out their notepads to note the names and relationships of the family members. While the family commented on the photographs, Binah was making notes on who in the family had various Neanderthal traits and to what degree. When everyone present had been photographed together in every conceivable combination of relationship, Binah and Amit got out the sample kits for the oral swabs for DNA tests. Here they let Deborah explain simply the purpose of the tests and as Binah had done, explained genetics as a way to explain why members of the family looked alike or different from each other. Collectively they had no grasp of the science of genetics, but were intrigued by an explanation of why the members of the family were similar or different. Deborah piqued their interest by pointing out how different members of the family looked like or dislike the others: grandchildren that looked like their grandparents and the differences in siblings. She told them that when the tests were done, they would be able to show how they inherited their features. At no time did they share with the family the concepts of patriarchal lineage or matriarchal lineages. Both were concepts understood from a religious context without reference to genetics. So they added the concept of tracing the family tree from the results. They would be able to tell how they were related from the samples. Keeping track of family trees was something very close to their heritage. Now intrigued by this new science, they cooperated in providing oral swabs. And this was how the evening ended, with the grandparents listing their ancestors by heart. But even this was important to the geneticists to discover how closely related they were to their spouses. As they suspected, many were second cousins related to their spouses as their parents related how they were inbreeding. As they left, Binah asked the elder family members about returning to Tirat Carmel to test other village members to discover how they were related to other’s in their village. Although they did not understand the science of genetics, they were interested to know if and how they were related to their neighbors. For Binah and his associates, this extension of the study was necessary to understand the relationships of the in-laws. They agreed to the idea, but said that they would have to speak to the other villagers before they could consent. Again Binah gave them there contact numbers in clear block print. They left happy to have collected the family samples but anxious as to how long it would be before they could take broader samples of the village.
They said their good nights and took Deborah back to the kibbutz. Binah and Amit left immediately with the samples to the institute. They would send Deborah copies of their tapes and notes for her to work on a family tree. Binah was tense. He could not wait to start isolating the men’s Y chromosomes and everyone’s mitochondrial DNA. Amit tried to calm him down to assure that he would go home and get some sleep before heading straight for the lab. But he knew that he and Binah would be in the lab first thing in the morning. “Amit, if you start with a purebred Neanderthal and a purebred modern Human, in the first filial generation you would have four genotypes just considering the sex chromosomes and mitochondrial DNA. Half of them would be hybrids that had modern human mitochondrial DNA but Neanderthal Y chromosomes. Half of them would be hybrids that had Neanderthal mitochondrial DNA, but with modern human Y chromosomes. In the second filial generations you would have ten different genotypes. I had some initial difficulty as the mitochondrial DNA is part of the ovum but not a result of meiosis. The mtDNA genotypes would be consistent with two traits with six genotypes with a 1:2:1 ratio of recombined parental genotypes, hybrids, and unique genotypes of human versus Neanderthal DNA but the mitochondrial DNA would have crossed subspecies. The male Y chromosomes would be simpler 1:1 ratios of recombined parental genes and hybrid genes. And that is just in the first three generations. How many generations could you have in thirty thousand years? In that hybrid population, you would have four ancestors that were hybrids, but more like the original Neanderthal and modern human ancestors. They would be hybrids, but you would have through random breeding individuals more like their Neanderthal ancestors. But, compared to known human haplogroups, how could you identify a Neanderthal Y and a Neanderthal mitochondrial DNA haplogroup? I think that Moshe Zaken is one of those men. And in his family, there must be a woman who is more Neanderthal than human”. “Binah, it works out on paper that way, but the problem with the statistics is that they are probabilities and not guaranteed results”. “Deborah brought back a sample that does not match any known human haplogroup. And you have seen Moshe and his family. They look more Neanderthal than human. We have found unknown haplogroups that are probably Neanderthal in origin. But, are they new hybrid haplogroups or are they ancient Neanderthal haplogroups recreated by chance in random interbreeding?” “Either way Binah, they would have to be considered unknown haplogroups of unknown origin. They would have to be considered unknown human haplogroups. You can only hope to show through the results that they are in fact the results of paleolithic Neanderthal and modern human interbreeding.” “That is what the remaining genetics will reveal. If they are all a mixture of modern human and Neanderthal DNA, than they are new human haplogroups. But, if the DNA is predominantly Neanderthal, they are unknown, surviving Neanderthal haplogroups. Either way they are unknown haplogroups.” Binah and Amit were still discussing this in the car after they parked at the institute. “Binah, let us get the samples into the lab and go home and get some sleep. The samples will take a while to analyze. You can see then if in Moshe’s family you can find your twelve allusive genotypes.” “You are right. But we must start immediately. We need to have preliminary results from Moshe’s family before we can make sense of samples in the rest of the community. All twelve genotypes might exist in that village”. “Binah, do not get too lost in the total data. In the end, the Y chromosome and mitochondrial haplogroups are going to be from the ancestral four haplogroups of the first generation”. “That is assuming that there were only one Neanderthal Y and mitochondrial DNA haplogroups”. “Binah, let us wait for the test results before you start naming your Neanderthal haplogroups!” They unloaded the car and parted company.
Amit was correct. When he came back to the lab Tuesday, Binah was already working on the samples. Binah looked up only briefly to remind him to send copies of the tapes and notes to Deborah so that she could start a family tree for Moshe’s family. Amit would leave Binah for a while to work on the samples alone while he worked with transcribing the taped conversations and downloading the photographs. Then he would join Binah in working on the samples. Before he left he did make one suggestion. “Binah, I hope that you are only doing Y chromosome and mitochondrial DNA analysis now. The DNA prints will only be necessary later”. “Yes. We do not have the time to do the DNA prints now. We will have to be content with the haplogroups for now.” Relieved, Amit left Binah to his work.
A haplogroup cannot be analyzed in a day. Once all the lab tests for the samples from Moshe’s family’s samples were started, Amit went back over Binah’s hypothesis statistics. “Binah, I can see the value of doing this, but you need to be prepared for the fact that since we are dealing with probability that your test results may not fill all of the possible genotypes”. “If humans and Neanderthals did interbreed, we need only find one Y haplogroup and one mitochondrial DNA haplogroup that are not modern human. No matter how many generations have passed, the Y chromosome was passed from father to son without exchanging DNA in meiosis. And the mitochondrial DNA will have been passed from mother to child without change, except for the accumulation of DNA mutations over time.” “You have calmed down. So know you are content to find these two aberrations in the data?” “I never said it would be two. If the Neanderthals that interbred were a single male and female, we would only have two. But what if the Neanderthal populations had more than one Y chromosome haplotype and more than one mitochondrial haplotype?” “Will this ever end?” “Yes. But all we have to do is find as many distinct haplogroups that are not modern human and determine if they are related and how. And then we can move on to the other villages around Mount Carmel. Do you think we should expand the study to include the areas in the Galilee where other Neanderthals have been found?” “No, and I do not think you should plan on including the other villages in Haifa. Our grant is for studying human haplotypes that our field workers collect. I think you will have to find grants elsewhere if you decide that you want to start concentrating your work on Neanderthal genetics. Deborah brought you a single sample you could not identify. It will be business as usual for us once you have that figured out.” Binah was offended by Amit’s casual dismissal on what might be the find of a lifetime. But he soon realized that he was correct. They were not being funded to do pure research on any topic. Their job was to identify Israeli population haplogroups. Being suddenly grounded was a letdown. “Binah, you have not proven that Moshe’s mitochondrial DNA or Y chromosome is Neanderthal yet”. Amit was right. Binah could not go in search of evidence of paleolithic Neanderthal interbreeding. But, it was far more interesting than his job description. “Cheer up Binah, if you prove that Moshe is a Neanderthal, you could be on your way to Stockholm”. Binah laughed. Amit was grounded and sensible. But he had not lost sight of the thrill or research for research’s sake.
A few days later, Binah had Moshe’s mitochondrial DNA and Y chromosome results in front of him. He compared the DNA base sequences with the known haplogroups. There were too many differences to be associated with any known modern haplogroup, but could have been the result of thirty millennia of mutations of the Neanderthal fossil’s mitochondrial DNA. But how could he prove that it originated from the Neanderthal DNA? The Y chromosome was similar in the number of mutations and did not match any known modern human haplogroup. But, no one had ever found a Neanderthal Y chromosome. However, the Max-Planck Institute had started a Neanderthal Genome Project. Soon, he would have more data to compare. The DNA print would show the ethnic origins of the remaining genes. Binah looked it over. It was typical of a paleolithic branch for the Mediterranean. The similarity to this group suggested it was ancient. He kept in mind that the DNA print represented hypothetic interbreeding. Without a complete Neanderthal genome how could he show that the mitochondrial DNA and Y chromosome haplogroups were not paleolithic Homo sapiens sapiens? Amit wandered in, interested to know Binah’s initial response.”Binah, what are you thinking?” “The mitochondrial DNA and Y chromosome haplogroups are ancient, but similar to the recognized origin of many Mediterranean modern haplogroups”. “So, it is human?” “Only if you assume that the paleolithic origin was strictly modern human. No one has ever considered the possibility of successful interbreeding and suggested that a paleolithic branch was Neanderthal. They had no evidence to support the hypothesis”. “I hate to say it, but without evidence, you are going to have to place them on the human phylogenetic tree. It is unknown, but you have no proof of Neanderthal contribution”. “We have not seen the whole picture yet! When we have looked at his DNA print, and find too many mutations from known ethnic groups, we might be able to suggest it”. “All the data suggests is that he is a typical paleolithic European descendant who moved into the Levant”. “We have not disproven anything yet. When we have seen the test results of his entire family, and his village and compared them to the known haplogroups, then we will be able to start drawing broad conclusions. We have only started”. Binah had a strange fanatical gleam in his eye. “So, you are not giving up on your Neanderthal hypothesis?” “No, I have not”. “Binah our research grant does not cover the research you want to do”. “Then perhaps I will have to find another institute and another grant. I am going to finish this study and then send the results to the Max-Planck institute. Perhaps I can get a position at the Max-Planck Institute’s Neanderthal Genome Project if I present them with hypothetical surviving Neanderthal DNA. If I have to, I will keep going over the data to find in Moshe’s family at least one individual I can statistically link to their Neanderthal DNA samples. It is a fossil. Moshe is alive and well and living on a mountain where Neanderthal’s used to live with modern humans. I have a Coelacanth in my net! No, this is not over. I cannot accept the idea that those fossils in the cave were the last of their kind”.