Myres, Natalie M

Perego, Ugo A.

Woodward, Scott

English

OJS at Oregondigital.org (Oregon State University / University of Oregon)

OLA Quarterly Volume 7 Number 4 Trends in Geneaology for Librarians (Winter 2001) July 2014 The Molecular Genaology Research Project Ugo A. Perego Natalie M. Myres Scott Woodward Recommended Citation Perego, U. A., Myres, N. M., & Woodward, S. (2014). The Molecular Genaology Research Project. OLA Quarterly, 7(4), 18-22. http://dx.doi.org/10.7710/1093-7374.1599 © 2014 by the author(s). OLA Quarterly is an official publication of the Oregon Library Association | ISSN 1093-7374  18The Molecular GenealogyResearch ProjectIntroductionA couple of months ago, we received anemail with the following request, “In 1986,my husband and I adopted a 5 month oldboy who was abandoned at birth, whichmeans we have no background informa-tion on the biological parents. He is bi-racial and they could not tell us hisnationality other than he is possibly Asian.Now that our son is 15 years old, he wouldlike to know what nationality he actually isas he gets questions all the time fromfriends. Is there anything in your researchprogram that could help us to determinehis nationality? I think it would be almostimpossible to find the parents, but hewants to know his nationality.”This request is not unique. Many peoplefind themselves at a dead end with theirgenealogical research. Written records aresimply not available, or not reliable. Nomatter how willing they are to search for theneeded information, there is almost no hopeto find the missing link with their past.Sometimes, these precious ties with the pastare destroyed by fire or flood. Other times,migrations or adoptions form a huge barrierbetween the branches (the present) and theroots (the past) of our family trees. What canbe done when these situations arise for thosewho are desperately searching for their ownorigins and personal identity?Genetic research with the purpose oftracing genealogies by using DNA iscurrently underway at Brigham YoungUniversity. This study is known as theMolecular Genealogy Research Project(MGRP) and its main goal is to develop adatabase containing correlated genealogi-cal and genetic data from all over theworld. This instrument will then be used toassist those having problems findinginformation about their family history.What is DNA?DNA (Deoxyribonucleic Acid) is thegenetic material containing all of thegenetic information necessary for livingby Ugo A. Perego, MS,Natalie M. Myres, MSandScott R. Woodward, PhDorganisms and is the repository of heredi-tary traits. The human genome (DNA) is thecomplete genetic blueprint of a person, andit consists of over three billion chemicalpairs. It is found mainly in the nucleus ofcells, in structures known as chromosomes:23 received from the father and 23 receivedfrom the mother. In addition to nuclearDNA, there is also genetic material foundinside mitochondria (mitochondria areenergy-producing organelles found in thecytoplasm). These genetic componentscontain all of the necessary information forthe foundation and the sustaining of humanlife. The color of our eyes, our height, ourpredisposition to certain diseases are just afew examples of what is contained in theDNA of our cells.What is Molecular Genealogy?DNA is transmitted from one generation tothe next. Some parts are passed almostunchanged, while others experience a highrate of recombination. This mode oftransmission from parents to childrencreates an unbreakable link betweengenerations and it can be of great help inreconstructing our family histories. Molecu-lar Genealogy is therefore a new way to dogenealogy, where DNA is used in associa-tion with traditional written records. Sincewe have inherited our genetic materialfrom our ancestors, our relatives share withus a portion of this information. The closerthe relative, the greater the amount ofgenetic information that is shared. Thismeans that inside any family unit, themembers of that unit share a greaterquantity of genetic material than thoseoutside of it. In other words, even thoughthe entire DNA sequence of an individual isunique to that individual, similar geneticinformation can be found among those thatdescend from common ancestors. Theobjective of Molecular Genealogy is toestablish family links among individuals,families, tribes and populations by usingthe information encoded in DNA. 19Why Do Molecular Genealogy?For some people genealogy is a hobby,while for others it is part of finding outwho they are. In general, there is greatinterest in understanding the origin andhistory of different populations. Writtenrecords, pictures, archeological findings,and other material can provide importantinformation used to elucidate personal andworld history. History books are the resultof these types of research. Unfortunately,because of the lack of such material, it isnot always possible to reconstruct thehistory of an individual or of a people.This can become a serious obstacle forthose who are trying to reconstruct theirown origins. Because each of us hasreceived our genetic material from thosethat came before, we are literally a livingrecord of our family history. The use ofDNA in genealogy will bring additionalinformation to those who have reached awall in their search for ancestors.How Do You Do Molecular Genealogy?DNA is extracted from samples donated byvolunteers using simple techniques.Although there are many ways to obtaingenetic material, the MGRP uses bloodsamples. Blood samples are used becausethey yield DNA of superior quality andhigher quantity than other samplingmethods. Each sample is analyzed atapproximately 250 loci (sections of DNA)across the entire genome. This geneticinformation is correlated to the genealogi-cal data provided by the donors. The onlygenealogical information gathered is placesand dates of birth. Names are substitutedwith codes to protect participants’ confi-dentiality. People who belong to the samefamily groups or that share common placesof origin will also share common geneticidentifiers. This process will allow theMGRP to reconstruct a genetic map of theworld that will be used to help peoplewith blocked genealogies in tracing theirfamily origins.The Y ChromosomeThe surname is not the only thing that ispassed from father to son. One of the 46chromosomes in every male is known asthe Y chromosome (Ycs). This chromo-some is passed almost unchanged fromfather to son. Unless there is a case ofadoption or illegitimacy, the Ycs follows astrictly paternal line. This portion of DNA isrelatively small compared to the entiregenome, but it is widely used in establish-ing relationships among individuals sharingthe same, or similar last names. Fig.1 showsthe inheritance pattern of the Ycs from oneO R E G O N  L I B R A R Y  A S S O C I A T I O Ngeneration to the next, following thepaternal line. Males are represented bysquares, while circles represent females.The Ycs of individual 1 is represented inblack. Males 4, 8, 11 and 15 have the sameYcs inherited from ancestor 1. Individuals13 and 18 have different Ycs because theybelong to a different male line. Thismethod was used to compare individualssharing a common paternal ancestor withPresident Thomas Jefferson with descen-dants of Sally Hemmings (one of PresidentJefferson’s slaves). The Ycs analysis re-vealed that Sally’s descendants share acommon Ycs with President Jefferson’sdescendants, and therefore belong to thesame family.The Mitochondrial DNAAs explained above, the nucleus is not theonly part of the cell that contains genetic 20material. Inside the mitochondria there is asmall portion of DNA (mtDNA) that istransmitted from a mother to all of herchildren, males and females. However,only daughters will pass the mtDNA totheir children. Because of this property,the mtDNA is also widely used in genea-logical research. Fig.2 shows the inherit-ance pattern of the mtDNA through anumber of generations, this time followingsomes. Unfortunately, these chromosomesare not transmitted in as clear a manner asthe Ycs and the mtDNA. In order to tracethe movement of these chromosomesthrough time and space, it is necessary todevelop a very large database that willrepresent world populations.The ApplicationEvery person that is born has (or had) twoparents, four grandparents, eight great-grandparents, and so on. At each genera-tion the number of ancestors doubles. Thismeans that at the thirtieth generation (ca.750 years) every person alive today shouldhave had over a billion ancestors (Fig.4).However, the estimated world populationfor the year A.D. 1250 is 400 million. Thisdiscrepancy is explained by the fact that atsome point in the past we all begin toshare ancestors (Fig.5). Therefore the totalnumber of actual ancestors is much smallerthan the number of possible ancestors(Fig.6). This means that we are all relatedto different degrees. These family ties arecontinually lost at each generation. Forexample, few people know their third orfourth degree cousins, even though theyshare ancestors relatively close in time.The genetic and genealogical workbeing conducted at BYU through the MGRPwill result in the construction of a world-V o l    N o     •   W I N T E R     a strictly maternal line. The color black isused to show all the people sharing thesame mtDNA. They all inherited themtDNA from the common ancestor 2.Individuals 15 and 16 have mtDNAdifferent from individuals 17 and 18because they belong to a different mater-nal line.The Remaining ChromosomesThe Ycs and the mtDNA are relativelyeasy to use because they experience littlerecombination and they follow strictinheritance patterns. However, their useplaces serious limitations on our search forancestors. Within five generations, onlytwo of sixteen great-great-grandparentscan be identified with these two methods(Fig.3). The majority of one’s DNA (andone’s family history) resides in the rest ofthe genome—the remaining chromo-somes. To better use genetics in genea-logical research it will be fundamentallyimportant to use the remaining chromo- 21wide family tree that will link peopletogether based on the genetic informationinherited from common ancestors. Thisknowledge will be of great use to thosepeople living in countries that do not havewritten records. For example, researchersfrom BYU collected over 6,500 DNAsamples among different populationgroups in Peru, with the objective ofincreasing our understanding concerningthe complex history of this country. Thesesamples were collected in large citiesalong the coast and in small villages in themountains. Among these samples weresome collected from the ancient mummiesin San Josè de Moro.O R E G O N  L I B R A R Y  A S S O C I A T I O NIn Peru, most people know little abouttheir past because of the absence of writtenrecords, and because of migrations withinthe country, particularly toward the largercities. Within just a few generations, thesemovements have caused a gap between thepresent population and the past genera-tions. Through the analysis of modern andancient DNA, it was possible to linktogether the mummies of San Josè de Morowith the modern population of Cajamarca(Fig.7). Similarly, a number of geneticcharacteristics of the people living on theshore of Lake Titicaca are also found inother villages. These similar genetic traitsshared by people of diverse locations couldhave resulted from Inca conquests thatdisplaced local peoples to other parts ofthe country, in order to maintain controlover them (Fig.7). This is just one exampleof how it is possible to shed light on thehistory of a people with limited writtenrecords through genetic analysis.iThe DatabaseIn the past eighteen months, over 20,000people have volunteered to participate inthe MGRP by donating blood samples andfour-generation pedigree charts. Thesesamples have come mainly from people that 22live in the United States. Other samplecollections have taken place in Oceania,Europe, South America and the Middle East.The first objective of the MGRP is tocreate a database of correlated genetic andgenealogical information representative ofworldwide populations. To accomplish thisgoal, the MGRP will collect at least 100,000samples from all over the world. Thedatabase will continue to grow until everypopulation of the earth is properly repre-sented, both genealogically and geneti-cally. The collection and the analysis ofthese first 100,000 samples will take atleast four years. Participants in the firststage of the project will not receive anyinformation back because of confidential-ity issues. As the database progresses andgenetic markers of specific populations areidentified, the MGRP will use this informa-tion to assist individuals with genealogicalquestions that cannot be answered usingtraditional written methods.Special CasesAs explained in this article, the main goalof the MGRP is to complete the worldwidedatabase. This is stage one of the project.Many answers regarding the migration ofpopulations and the reconstruction offamily trees will come with the availabilityof the database. In the meantime, theMGRP can assist in solving a certainnumber of family situations defined as“Special Cases.” At the moment, many ofthese cases are limited to the use of theYcs and mtDNA analysis. As the databasegrows, it will be possible to work on morecomplex cases, such as the one cited inthe introduction. Participating in theconstruction of the database does notimply necessarily qualification as a “specialcase.” Those individuals who think theymight have a genealogical situation thatcan be solved with the use of geneticsshould contact the MGRP.V o l    N o     •   W I N T E R     ConclusionBlocked genealogies, adoptions, andrecords that are missing or unreliable areall situations in which the MGRP mightprovide some help. The success of thisproject is based on the participation ofindividuals with known genealogies fromall over the world in the construction of thedatabase. The MGRP is willing to workwith groups that can help in acceleratingthe process of developing the database. Apacket of instructions will be sent to allthose interested in organizing such groups.Participants need to be eighteen or olderand provide a biological pedigree chart inthe form of paper or GEDCOM file.Qualified medical personnel willperform the blood draws and the MGRPwill provide all the necessary equipmentfor the collection of the samples. Thoseinterested in learning more about theMGRP, or who would like to organize agroup to be included in the database canuse one of the following contacts:Write: Molecular Genealogy ResearchProject 775 WIDB BrighamYoung University, Provo, UT 84602Email: molecular-genealogy@byu.eduFax: (801) 378-1576For more information concerning theprogress of the research, visit the Web siteat: http://molecular-genealogy.byu.edu/.iJoel E. Myres, PhD (1969–2001) was responsible forthe collection and analysis of the Peruvian samples.At the time of his premature death, Dr. Myres was incharge of the special cases and co-principal investiga-tor for the MGRP.Ugo A. Perego has many responsibilites withthe Molecular Genealogy Research Group. He isthe Director of Public Relations and his mainjob is to find the 100,000 participants for theproject worldwide. He organizes the presenta-tions and blood draws, and writes articles andanswers to inquires pertaining to the project. Healso maintains the Web site, offers presentationsand helps with the special cases. He has abackground in accounting and health sciencesand a masters in Health Science from BYU.

The Molecular Genaology Research Project

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The Molecular Genaology Research Project

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