Interpreting
the DNA Data and the Book of Mormon [1]
By John A. Tvedtnes
Part
3 of 3 — Comparing Living and Prehistoric Populations
Editor’s Note: This is
the last of a three-part series that interprets the recent DNA
data concerning peoples who settled the Western Hemisphere. Part 1 gives a background on the controversy, as well as thoughts
on how the DNA data could confirm Book of Mormon accounts rather
than disprove them. Part 2 covers
differing interpretations of the DNA data that have been uncovered.
A number of scholars have objected to attempts to determine
from the genetic makeup of modern populations who comprised
the ancient inhabitants of a given region. There are many reasons
for this, some of which we have discussed earlier (e.g., bottlenecks
and the likelihood of some DNA markers disappearing over time).
Theodor Schurr noted that
It’s also important to mention that the genetic composition
of an ancient population may not be the same as the population
currently occupying the same geographic region, because of migrations,
genetic drift or other stochastic processes. For example, based
on haplogroup frequencies, the ancient Stillwater Marsh population
in the Great Basin region does not appear to be ancestral to
any modern Amerindian population in the same area. On the other
hand, ancient Eskimo and Aleut samples have nearly the same
haplogroup frequencies as their modern descendents, and the
same is true for the ancient Anasazi and Fremont cultures and
the modern Pueblo Indian groups. [2]
The oldest complete human skeleton in Great Britain was found in Gough’s Cave in Cheddar Gorge, southwestern
England. Dubbed “Cheddar Man,” the skeleton was dated to about
7150 B.C. In 1997, a research team headed by Bryan Sykes of
the Oxford University Institute of Molecular Medicine, decided
to perform mtDNA tests on residents of the nearby town of Cheddar
to see if any of the modern inhabitants were related to Cheddar
Man. Samples were collected from 15 students at the Kings of
Wessex school and from four adults from old Cheddar families.
To make up a sampling of 20 people, Adrian Targett, a teacher
of modern history at the school, volunteered to give a sample.
When the results were announced in March 1997, Targett was the
only one whose mtDNA suggested that he and Cheddar Man had a
common female ancestor.
[3] He lives about half a mile from the site of the
1903 discovery.
According to Sykes, Targett’s mtDNA differs from that of Cheddar
Man in only one base pair out of 300, which can be accounted
for by mutation. [4] But this is far less mutation than has been noted
in other mtDNA studies for a comparable period of time. Moreover,
it is rather surprising that Cheddar Man has only one relative
still living in the region. To be sure, the sampling (20 people)
was relatively small, but it is quite comparable to many of
the samplings done among Native Americans.
An American skeleton from approximately the same time as Cheddar
Man was found in 1996 on the shore of the Columbia River near Kennewick, Washington. Anthropologists
who examined and measured the skull noted that it showed strong
Caucasoid traits, suggesting a European rather than an Asian
origin. The Native American Protection and Repatriation Act
of 1990 requires that skeletal remains found in the United States be returned to Native American tribes for reburial.
Five tribes (Umatilla, Colville, Wanapum, Nez Perce, and Yakima)
claimed the remains as their ancestor. Unfortunately, scientists
were unable to recover DNA that could determine Kennewick Man’s
true origins. [5] Controversy over the remains continues in both
the court and the laboratory.
Another American skeleton from roughly the same period (7400
B.C.) was found in Spirit Cave, near Fallon, Nevada. Douglas Owsley, a forensic
anthropologist at the National Museum of Natural History, noted
that Spirit Cave Man is “most similar to the Ainu [a Caucasian
people] from Japan and a medieval Norse population ... I’m reluctant
to say he’s a white guy, but he’s certainly very different from
modern Asians and Native Americans.”
[6]
Over the past few years, geoarchaeologist Silvia Gonzalez of
the Liverpool John Moores University in England has examined 27 skeletons in the National Museum of
Anthropology in Mexico City that were found in the region in
1959. She found that the skulls were dolichocephalic (long and
thin) and did not match the brachycephalic (round and broad)
skulls of Native Americans. [7]
Radiocarbon dating of four of the specimens at Oxford University
indicated that they are older than other human remains found
in the New World and that one of them, called “Peñon Woman III,”
dates to 12,700 B.P. Gonzalez noted that the morphology of the
Mexico City skulls matches that of the Pericue Indians of Baja
California, who became extinct in the 18th century,
and whom early Spanish missionaries described as being racially
and culturally different from other Native Americans. Gonzalez
has noted that the skulls are like those of southern Asians,
Australian Aborigines, and people of the South
Pacific Rim and seem to also have a tie to the Ainu, a Caucasian
group in Japan.
Subsequent DNA tests on the skeletal material confirmed that
the Mexican finds were consistent with an Australian origin. [8] To Gonzalez and her colleagues, the evidence points
to “several migration waves into the Americas at different times
by different human groups” and that some of them crossed the
Pacific in boats. Gonzalez believes that various groups of Old World peoples migrated to the Americas from northeast Siberia, the western Pacific, and even
Europe. [9] DNA specialist Douglas C. Wallace also believes
that the closest ties to Native American mtDNA are with the
Polynesians, [10] and some scholars have noted cultural similarities
between the two regions as well. [11]
Native
American Objections
In recent years, some Native American groups have objected
to the conclusions reached by geneticists, arguing that the
research is faulty. Some of these groups fear that assigning
an Asiatic origin to their ancestors will deprive them of their
status as natives of the New World, which could impact legal
decisions regarding the various tribes.
A paper, “Genetic Markers Not a Valid Test of Native Identity,”
prepared for the Council for Responsible Genetics of the Indigenous
People’s Council on Biocolonialism, lists reasons why the group
rejects DNA claims for an Asian origin. [12] The authors write, “The most obvious problem
is that being Native American is a question of politics and
culture, not biology: one is Native American if one is recognized
by a tribe as a member. And one is not necessarily a member
of a tribe simply because one has Native American ancestors.”
Following a brief description of the mtDNA and Y chromosome
markers used by geneticists, they note that “none of these markers
is exclusive to Native American populations; all can be found
in other populations around the world. They simply occur with
higher frequency in Native American populations.” They further
note that if “31 of your 32 great-great-great-grandparents”
were Native Americans and the other was the ancestor whose mtDNA
was passed to you but was not one of the five haplotypes (A-D,
X), then an examination of your mtDNA would conclude that “you
would not be identified as Indian.”
Conversely, if 31 of those great-great-great-grandparents were
European but the one whose mtDNA you inherited fell into one
of the five haplotypes, “you will have inherited a ‘Native American’
mtDNA marker.” The same holds true of Y chromosome studies and
“there is a very high chance of someone having a significant
amount of Native American ancestory [sic], and yet appearing
to be a non-Native. All it takes is one non-Native person located
in the proper position in a person’s ancestry.” The report adds
that “Scientists have not tested all Native Americans, so they
do not know for sure that Native Americans only have the markers
they have identified, even when their maternal or paternal bloodline
does not include a non-Indian.”
Ancient
American DNA
While we await DNA research on skeletal remains such as Kennewick
man, we can rely on a few other findings. The first study of
mtDNA from ancestral Amerindian populations of South America
was reported in 1996 and was based on mtDNA extracted from 18
skeletons of pre-Columbian Amerindians found in the Brazilian
Amazon region and dated to 500-4,000 B.P. The sequencing of
at least 354 bases permitted the identification of 13 haplotypes
defined by variation of 26 nucleotide positions. Two of these
haplotypes were shared by more than one sample, while the others
were unique.
The researchers concluded that “if our sample is representative
of Pre-Columbian South America, the percentage of haplotypes
(39%) not belonging to the four [Asian] haplogroups described
by Horai is much greater than in contemporary indigenous populations.
This permits us to suggest that, in addition to the postulated
bottleneck effect during the migration from Asia to the Americas,
the depopulation effect started by European colonization in
the 16th century contributed to the reduction in
genetic variability of Amerindians.” [13] In other words, much of the mtDNA present in
precolumbian South American populations seems to have been lost
when Europeans began settling the New World, bringing deadly
weapons and diseases to bear on Native Americans.
On the other hand, a 1997 study of mtDNA extracted from 60
skeletal remains representing four extinct human populations
from the southernmost part of South America noted the “complete
absence of two of the four mitochondrial haplotype groups present
in contemporary Amerinds, namely A and B. In contrast, haplogroups
C and D were found in all but one sample with frequencies of
~38% and 60%. These results, together with the decreasing incidence
of group A in more southerly latitudes in the American continent
and the absence of cluster B above 55o North in America
and Asia, argue that the first settlers entering America 21
000-14 000 years ago already lacked both mtDNA lineages.” [14]
A 1996 study of mtDNA from the skeletal remains of 47 individuals
from the Great Salt Lake Wetlands (A.D. 400-1000) and Levee
(A.D. 1000-1350) phases of the Fremont culture, found haplogroups
B, C, and D known from studies of modern Native American populations.
The researchers reported that, “The most striking result is
the absence of haplogroup A in this Fremont series, despite
its predominance in contemporary Amerindian groups.” They also
noted the presence of haplotype N, which had previously been
“observed in some modern [Native American] populations and two
other prehistoric samples.” [15] The total percentage of “other” mtDNA was the
same (7%) as that for haplogroup D, which is generally present
in higher proportions in modern Native Americans. The results
of this study suggest that caution must be exercised when concluding
that the mtDNA of ancient populations matched those of modern
Native Americans living in the same geographical region.
One report noted that “While haplogroups B, C, and D have all
been identified in Paleo-Indian skeletal remains, the oldest
reported number of haplogroup A, the most common haplogroup
in [modern] North America and the New World dates only to 4,504
+ 105 years BP ... In a preliminary restriction analysis
of 18 samples dating to before 6,500 years of age, no members
of haplogroup A were reported.” [16]
This demonstrates that studies of mtDNA in modern populations
does not necessarily reflect the mtDNA of ancestral populations,
since some lines can die out over time. One is tempted to note
that the timeframe given by these researchers for the earliest
occurrence of haplogroup A in Native American skeletal remains
(ca. 2500 B.C.) roughly corresponds to the time when the Jaredites
would have arrived in the New World (via Asia, if Nibley is
right [17] ).
For mtDNA, only the most prevalent types survive for long.
Low-level varieties disappear from small populations just as
family names tend to disappear in populations that take their
surnames from males. [18] In all likelihood, people from some migrations
became mitochondrially or literally extinct.
Problems with DNA Population Studies
Despite its utility in population studies, a number of geneticists
have found serious problems with using mtDNA to determine ethnic
origins and population history. Some scholars have discussed
the problems associated with the collection of DNA samples.
One study warned,
Sampling strategy in Y-chromosome population studies
has not generally been given sufficient attention. Whether collected
samples truly reflect the structure of a population is difficult
to assess. Since many populations may be both very heterogeneous
and highly structured geographically, researchers must be careful
when extrapolating conclusions based on an analysis of samples
from a restricted area. Care must also be exercised in the interpretation
of data from samples that are of unknown provenance and for
which only a broad description or origin is available. [19]
A 2004 report indicates that, “The laboratory error in sequencing
mtDNA is extremely low and most laboratories report an error
rate of approximately 2% ... Recently, however, reports have
been published indicating that certain mtDNA sequences in widely
used databases likely have a large number of errors (Bandelt
et al. 2002). In order to reduce this error even further, many
laboratories sequence the mtDNA of a sample twice.” [20]
A 1997 study by D. Andrew Merriwether and colleagues noted
some of the difficulties in dealing with DNA recovered from
skeletal remains. In a section entitled “Ancient DNA Research
Problems and Prospects,” they note the advantage of working
with ancient DNA is that one can “sample populations or cultures
at different points in time to see how genetic variation changes
in conjunction with observed changes in the archaeological and
historical records and being able to test for the presence of
specific genetic markers to detect the presence of specific
lineages, genetic diseases, bacterial and viral infections,
and domesticated crops and animals at specific times in the
past.” They then list the “limitations” inherent in such studies:
1.
Samples from a given site may span centuries of time.
The ideal situation is that of the Oneota, where skeletal material
from many individuals was restricted to “less than 100 years”
during which the site was occupied.
2.
“Especially with Native American variation, one needs
to examine differences in gene frequency to compare populations,
and this requires reasonably large sample sizes (40+).”
3.
“To achieve large population samples, one must also
overcome the generally less than 50% success rate in extracting
amplifiable DNA from ancient samples. If you can only extract
DNA from 33% of the samples, you would need to attempt 120 samples
to get the suggested 40+ individuals.”
4.
“When attempting to amplify ancient human DNA, one must
be aware of the possibility or even probability of modern DNA
contamination when humans are performing the labwork and excavations
... Contamination can be avoided, but it requires extreme caution.”
“Some questions may never be addressable by ancient DNA owing
to this size reduction. Nonetheless, we would encourage archaeologists
and anthropologists to consider the use of ancient DNA as a
powerful tool for examining human prehistory.”
5.
“Owing to the level of damage to ancient DNA, it is
usually not possible to amplify larger genes from ancient remains.
Most ancient DNA fragments are less than 300 nts [Nts+ neucleotides]
in length, thus requiring multiple amplifications and typings
to construct higher resolution haplotypes. Additionally, one
must be cautious about which samples should be included in analyses
of gene frequencies, as the inability to amplify some sites
from ancient DNA may bias the observed distribution of haplotypes.” [21]
The problem with undersampling of both ancient and modern mtDNA
has been noted by other researchers. Malhi and Eshleman noted
that, “542 tribes are currently federally recognized in the
United States. Our database contains sequences from approximately
80 tribes, representing 15% of the tribes in North America.
Ward et al. (1993) shows that 40 individuals need to be sampled
within a tribe to capture 50-80% of the lineages in that tribe.
Our database has tribal sample sizes ranging from one to over
150, with an average of approximately 25 individuals per tribe.
Data from 25 individuals would capture anywhere from 40-60%
of the lineages in these tribes.” [22] The same researchers note that, “approximately
3% of tribes in North America” are represented in Y-chromosome
data. [23]
Though confident of their results, Kaestle and Smith note
that, “Due to sampling error, it is possible that a sample size
as small as 39 individuals provides an inaccurate estimate of
the frequencies of the five haplogroups in the ancient inhabitants
of Western Nevada, even if those inhabitants were both ancestral
and genetically identical to the modern inhabitants.” [24] They further wrote,
Nineteen of the 21 ancient Pyramid Lake [Nevada] samples
could be assigned to one of the five modern Native American
haologroups. One sample does not belong to any of these haplogroups,
and could represent either a sixth Native American haplogroup,
a recent mutation causing the loss of the restriction site used
to identify its true haplogroup, or contamination of the bone
sample. The remaining sample did not amplify well and could
not be placed unambiguously into one haplogroup; both samples
were excluded from the analysis. The only sample possessing
the C haplogroup markers was also excluded from the analysis
because it is more than 3,000 years older than any of the other
samples studied. [25]
The problem of contamination of ancient DNA (aDNA) is discussed
at length in an article published in 2000. The likelihood of
contamination by modern DNA is higher for ancient skeletal remains
because the bones will have been handled by a number of people,
from the archaeologist excavating the site to the one recording
the finds and packaging them for shipment to the anthropologists
and students who examine them in the classroom or lab. By the
time the geneticists receive the material, the ungloved hands
of those who touched it may have left modern DNA on the samples.
Concerned about “the inability to amplify a significant number
of [ancient] samples and the contamination of samples with modern
DNA,” the authors “analyzed five well-preserved skeletal specimens
from the western United States dating from 800-1600 A.D.” Levels
of contamination in the ancient DNA (aDNA) ranged from 0 to
100%, “as determined by the presence or absence of New World-specific
mitochondrial markers.” I.e., those samples that did not have
one of the haplogroups already determined to be “Native American”
were considered to be contaminated, so even if these samples
represent different Old World mtDNA haplogroups, that information
will not show up in published results. “Only the determination
of DNA sequence from a cloned amplification product clearly
revealed the presence of both ancient DNA and contaminating
DNA in the same extract.” They conclude, “Our results demonstrate
that the analysis of aDNA is still an excruciatingly slow and
meticulous process.”
The researchers note that “Careful selection of polymorphic
markers capable of discriminating between ancient DNA and probable
DNA contamination is critical. Research strategies must be designed
with a goal of identifying all DNA contaminants in order to
differentiate convincingly between contamination and endogamous
DNA.” [26]
Recent discoveries suggest that there may be other problems
with mtDNA studies. For example, researchers have documented
rare cases of paternal mtDNA inheritance. [27] Normally, the production of sperm cells results
in the cell being stripped of its mitochondria, but on rare
occasions this does not occur. How much impact this will have
on the mtDNA studies performed to date has yet to be determined.
R. Sanders Williams, dean of Duke University’s school of medicine,
thinks that it is a serious issue. He said, “Even a single validated
example of paternal mtDNA transmission suggests that the interpretation
of inheritance patterns in other kindreds thought to have mitochondrial
disease should not be based on the dogmatic assumption of absolute
maternal inheritance of mtDNA.” [28]
Because most mtDNA testing looks only at specific portions
of the mtDNA molecule, Baldelt et al. have written, “Unfortunately,
we now know that coding region data and their analysis are not
without problems. To obtain and report reasonably correct sequences
does not seem to be a trivial task, and to discriminate between
Asian and Native American mtDNA ancestries may be more complex
than previously thought.” [29]
They note that, “While errors in the scoring of basal polymorphisms
could cause problems in the phylogenetic analysis of the mtDNA
sequences, and eventually in the identifications of founder
mtDNAs, errors in detecting private mutations would lead to
biased estimation times for founder events. Phantom mutations
(Bandelt et al. 2002) would inflate the age estimates.” They
warn that, “With the larger and larger mtDNA sequence sets that
are being analyzed, it is inevitable that the number of errors
will also increase and that these errors will confound analyses.” [30]
Critics of the Book of Mormon make it appear that the ancestry
of Native Americans has been proven to be uniquely Asian, which
is not true. There are evidences of ancestry from non-Asians
as well. Moreover, as one study indicated, “similar haplotypes
exhibited in Asia and America could be due to convergence rather
than common ancestry,” i.e., their similarity came about by
happenstance. [31]
Most of the mtDNA studies of Native Americans have been done
with a view to determining when their Asian ancestors migrated
to the New World. It is generally assumed that mtDNA mutates
more rapidly than nuclear DNA and a mutation constant has been
used (2-4% per million years, which is hardly a precise figure
over such a long period). That constant makes it possible to
suggest a timeline for the original founder group to have crossed
the Bering Strait from Siberia into Alaska. However, the DNA
experts are not agreed on the matter, whether there were one
or more migrations and the timing of each. So while the first
migration is placed ca. 30,000 years B.P. or earlier, there
may or may not have been subsequent migrations according to
the data.
Is there a constant rate of mutation for mtDNA? (Is anything
constant in nature?) It is instructive to learn how the mutation
rate was determined. The first method used was to examine the
mtDNA of related individuals of known female ancestry to determine
how many mutations have occurred in each line (i.e., where each
individual differs from his maternal relatives). [32] The problem with this is that the studies could
only examine short-term changes because the ancestry of the
individuals could not be traced back more than a few generations.
Another potential problem is the arbitrary assignment of 20
years per generation on average, which may or may not be accurate.
Being off by just a year or two in each generation can make
a big difference when one is dealing with tens of thousands
of years. Moreover, the calculation varies considerably if one
postulates that more than a single individual carrying a given
haplotype arrived in the New World in the same wave of immigration.
Coalescence times that assume a single founder are much older
than those that assume two or more such founders (e.g., siblings),
in the same way that using a 2% mutation rate per million years
will give an older date than were one to use the 4% rate.
The other way to calculate mutation rates is to examine the
mtDNA of animal species that have a much shorter reproductive
rate than humans, such as mollusks. This assumes that the mtDNA
of all creatures mutates at the same rate, which may not be
so. If the time between generations (including gestation periods)
differs between species, could not the mutational rate be different
as well?
The whole situation is reminiscent of linguist Morris Swadesh’s
method of calculating when related languages began to differ
one from the other. He termed the procedure glottochronology
(the term lexicostatistics is sometimes used). Swadesh compared
English with related Germanic tongues, of which Frisian seems
to be the closest, and, knowing the approximate time the Angles
and Saxons came from medieval Germany to the British Isles,
he calculated a rate of change in a core lexicon.
He began with a list of 100 words that he claimed changed at
a slower rate than other words in languages, then later expanded
it to 200. Following language classifications determined by
other linguists, he ultimately applied his formula to most of
the world’s languages or language families and suggested dates
for their separation from parent languages shared with other
related tongues. As it turns out, the formula worked for the
Germanic languages on which it was based, but was ultimately
rejected when it came to other language families. Swadesh’s
assumption that languages change at a constant rate is no less
“scientific” than the assumption that all mtDNA mutates at a
constant rate.
The calculations for genetic separation of New World peoples
from their Old World counterparts were met with skepticism by
archaeologists, based on radiocarbon-datable findings at American
prehistoric archaeological sites. The calculations made from
mtDNA place the migrations some 15,000 years earlier than the
archaeological evidence suggests. One genetic study noted,
Great variation in divergence estimates among molecular
studies results from uncertainties regarding the proper calibration
of mutation and divergence rates, the error estimates associated
with these rates, and the events that genetic divergence may
actually reflect. Attempts to calibrate a mitochondrial mutation
rate have employed divergences data that themselves are uncertain. [33]
A
Summary of Problems with Native American DNA Research
An excellent summary of problems with DNA studies is presented
by Peter N. Jones of the Bäuu Institute, [34] in his “American Indian Demographic History and
Cultural Affiliation: A Discussion of Certain Limitations on
the Use of mtDNA and Y Chromosome Testing.” [35] Jones explains,
This
paper examines six weaknesses inherent in current uses of genetic
anthropology that attempt to resolve questions of demographic
history and prehistoric cultural affiliation: 1) interpretation
of coalescent times as times of origin; 2) the current uses
of haplogroups; 3) sample sizes; 4) use of language groups to
define population groups; 5) use of contemporary American Indian
reservations to infer prehistoric tribal history; and 6) a combination
of these to determine American Indian population history, historic
migrations, and demographic history. [36]
Jones
noted that, “Tracing the coalescent times leads to one ancestor
of a unilineally transmitted set of markers, but the descendents
of the original mtDNA will have had haplotype frequencies that
differed among themselves, resulting in a biased sample of the
total historic population when using coalescent times. This
is so because working back in time does not allow one to take
into account the various branches of diversity that the historic
population had, but only can detect the lineal history of the
specific marker being coalesced.” [37]
Jones
lists several incorrect assumptions that lie behind the population
studies: 1) there is a constant rate of genetic mutation, 2)
Native American populations were isolated one from another,
and 3) the history of particular gene systems is the history
of the specific populations in which they are found. [38]
Jones
challenges the isolationist view of precolumbian Native Americans,
noting that, prior to the establishment of reservations (beginning
in the 1850s), “many American Indian groups were highly mobile
autonomous entities, covering large areas of land” and that
“many American Indians practiced a high degree of spousal exchange
and intergroup marriage among other groups in order to solidify
trade arrangements and political alliances.” [39]
Jones
also finds fault with the sampling methods used for the DNA
research, saying that, “Most studies have not used random samples,
but instead have used convenience samples obtained from diabetic
studies, rheumatic studies, and AIDS studies, as well as other
studies ... As Donnelly and Tavare (1995: 418) point out, ‘In
practice, genetic data are typically obtained from convenience
samples rather than proper random samples. There is an obvious
danger that such data may contain individuals who share relatively
too much ancestry on the relevant timescales.’” [40]
Since
there are genetic predispositions to some diseases, such as
diabetes, there is more likelihood of these non-random samples
coming from individuals who share a common lineage, to the exclusion
of other lineages. Jones explains,
Convenience
samples means that the blood samples or genetic material were
not collected by the investigating scientist, but instead through
third parties. Many of these third parties initially acquired
the blood or genetic material for other reasons, such as diabetes
testing. A review of the literature has revealed that over a
hundred institutions have allowed these scientists access to
American Indian blood, a lot of the time without the individual
who gave the blood having any knowledge of this. Though there
are many problems with this in and of itself, the point that
is important in the present discussion is that the scientists
have no means of verifying the actual tribal affiliation of
the blood sample they are using. For example, when an individual
goes in for diabetes testing, they designate themselves and
their tribal affiliation, though there is no guarantee that
this designation is correct, nor is there any knowledge of that
individual’s family genetic history. This fact could greatly
mislead the scientists into concluding various tribal haplotype
frequencies that may not be correct. [41]
According
to Jones, “most studies rely on the idea that American Indians
came over in small groups ... If this is the case, coalescence
times will be shorter because smaller populations in the past
are more likely to share ancestors and thus lead to an accelerated
time of origin for American Indians and thus not truthfully
demonstrating the occupational time depth American Indians have
[been] in the Americas. [42]
“Furthermore,”
Jones writes, “departures from random mating due to inbreeding,
assortative mating, or population stratification can lead to
non-random association between genotypes and further complicate
the interpretation of the data and coalescent times.” [43] He cites examples of Native American groups that
have very selective mating practices, drawing attention to the
fact that
It
is evident that neither American Indians nor specific American
Indian groups were ever isolated populations and that the history
of a contemporary group’s genes are not a specific history of
that American Indian population. Therefore, using gene coalescent
times as possible times of origins for American Indians can
lead to spurious conclusions, for there is no evidence that
American Indians were ever: 1) part of a neutral system that
can be timed like a regularly clicking clock, 2) were isolated
from each other or from Asian populations, and 3) that the current
genes systems found in a particular population fully represent
the diversity and history of that population. [44]
Noting the studies that have identified five mtDNA haplogroups
(A, B, C, D, X) among Native Americans, Jones writes that, “One
of the current limitations with the uses of haplogroups for
inferring American Indian cultural affiliation is that there
is the possibility of discovering new haplotypes as more tribes
are studied and techniques developed.” [45] Current testing is done for markers of the five
specific lineage markers, which means that “it is likely that
other haplotypes will go undetected, resulting in spurious conclusions
from simplified haplotype frequencies.” [46]
Jones writes that, “Another problem with the current sample
sizes being used is the actual numbers of individuals tested
to infer the genetic makeup of the entire population. Typically,
sample sizes range between four and 30 individuals per tribal
population; this is insufficient to detect little more than
the most common haplotypes in each population.” [47] Even studies that purport to use a larger sample
base are flawed because they merely borrow published data on
smaller samplings to make up the numbers. “The largest study
to date on American Indians dealt with 2,198 males from 60 global
populations, including 20 American Indian groups ... this study
relied on large amounts of data gathered from previously published
reports, and thus could not correct for those sample sizes.” [48] “Many authors have tested only a small set of
markers on one gene (univariate) for their studies, combining
their data with those of others to result in several sets of
markers to arrive at their multivariate analysis. Not only have
limited numbers of markers been studied and subsequently combined
with other studies (which was noted above), but the mutation
rate for insertions and deletions on those markers is unknown.” [49]
Jones also notes the tendency among some geneticists to conclude
that “some American Indian tribes recently moved into a geographical
area despite contrary evidence from oral history and archaeology.” [50] The current distribution of many North American
native groups on reservations also skews the data because, “Presently,
studies concerning American Indian cultural affiliation and
demographic history test individuals from a reservation and
combine their allele frequencies to arrive at the haplotype
makeup of that population. Therefore, the researchers are using
contemporary American Indian reservation demographics to arrive
at a population that they infer back into prehistory. However,
one of the primary problems with this method is that most contemporary
American Indian reservations are not made up of a single group,
but consist of different groups of American Indians that prior
to being forced onto reservations were autonomous groups.” [51] He cites several examples of such misguided categorization.
Jones also argues that the original basis for determining Native
American populations, based on language families, is faulty. [52] “Not only have sample sizes of groups or tribes
being tested been inadequate, but most studies have relied on
the use of controversial linguistic phyla in order to place
their data into objective, quantifiable groups. However, as
several papers have pointed out, not only do the correspondences
between languages and populations differ, but there is also
no agreed-upon set of linguistic phyla for American Indians.”
Citing other authorities, he concludes that, “Languages do
not change at specific rates and therefore using contemporary
linguistic phyla to extrapolate prehistoric population groups
is ill-founded.” [53] “To use current American Indian languages as
a baseline for prehistoric American Indian genetic affiliations
and population groups seems presumptuous. Until linguistic specialists
agree upon the classifications of American Indian languages,
they should not be used as a means of inferring and objectifying
prehistoric population groups.” [54] Similarly, “Mitochondrial DNA or Y chromosome
lineages are not human populations.” [55]
In his conclusion, Jones writes,
Although
mtDNA and Y chromosome studies can provide insights on America
Indian origins and prehistoric relationships, they should be
used with caution. Mitochondrial DNA and Y chromosome
studies are in their infancy. Because of the various
limitations listed above, as well as a lack of correlation between
anthropological genetic data, archaeological data, ethnographic
data, and oral tradition, these studies should be viewed as
inchoate and requiring further investigation and support
from the other fields of anthropology ... The mtDNA and
Y chromosome data for American Indians, as well as many other
regions throughout the world, have serious limitations.
However, because of the claimed authoritative validity of these
studies there is great danger that they will convince nonspecialists
of the validity of the hypothesized associations between American
Indian groups.
Summary
When one looks carefully at the various DNA population
studies of Native Americans (of which only a small percentage
have been cited herein), one sees that the supposed “evidence”
cited by Book of Mormon critics evaporates. The process of detecting
genetic markers and sequencing Native American DNA involves
techniques designed only to detect DNA of Asian origin, something
that the studies have done. Native American DNA that do not
fit the testing for Asian DNA have typically been labeled “other”
until tests are devised to look for other markers. This is what
happened with mtDNA haplogroup X, which some geneticists hold
to be Asian, while others argue for a European origin. It is
also found in the Near East, as are other DNA haplogroups already
detected in Native American samples. The HLA and Y-chromosome
evidence points to the ancient Near East and Jews in particular
as a possible source for some Native American DNA.
None of this proves the Book of Mormon is true, but
neither does it prove that it is untrue. Even if no Israelite
DNA were found among Native Americans, this would be insufficient
to invalidate the Book of Mormon, since no human being has all
of the DNA of his/her ancestors, and one can even be descended
from someone whose DNA is no longer in the gene pool of a given
population. In sum, the DNA issue, insofar as Lamanites and
other descendants of Lehi are concerned, is another red herring.
I sincerely hope that any who are troubled by the unfounded
reports that DNA studies disprove the Book of Mormon will at
least read this article to see what some of the studies actually
say. And yes, as Moroni 10:3-5 suggests, one can also seek a
spiritual witness from God.
Appendix: Latter-day Saint Responses to Critics on the DNA Question
Over the past several years, several Latter-day Saints have
responded to critics who appeal to DNA studies to discredit
the Book of Mormon. A few of these responses deal with the question
of DNA itself, while others point out that the critics who use
the DNA argument are relying on popular opinions about the Book
of Mormon, its geography, and people, rather than on the text
itself.
FARMS
John L. Sorenson, “The Problematic Role of DNA Testing in Unraveling
Human History,” Journal of Book of Mormon Studies 9/2
(2000): 66-74, at
http://farms.byu.edu/jbms/pdf/9_2_2000_11.pdf
(pdf format) or
http://farms.byu.edu/display.php?
a=jbms/9_2_2000_11.inc&x=2 (html format)
John L. Sorenson and Matthew Roper, "before DNA,"
Journal of Book of
Mormon Studies 12/1 (2003), posted at
http://farms.byu.edu/pdf.php?filename=
NDE2NTY2OTQwLTEyLTEucGRm&type=amJtcw
Michael F. Whiting, "DNA and the Book of Mormon: A Phylogenetic
Perspective," Journal of Book of Mormon Studies
12/1 (2003), posted at
http://farms.byu.edu/pdf.php?filename=
ODQwNjY0ODMzLTEyLTEucGRm&type=amJtcw
John M. Butler, "A Few Thoughts From a Believing DNA Scientist,"
Journal of Book of Mormon Studies 12/1 (2003), posted
at
http://farms.byu.edu/pdf.php?filename=
MTE1NDQ1MzY3MC0xMi0xLnBkZg==&type=amJtcw
D. Jeffrey Meldrum and Trent D. Stephens, "Who Are the
Children of Lehi?" Journal of Book of Mormon Studies
12/1 (2003), posted at
http://farms.byu.edu/pdf.php?filename=
Mjk3NjA2NTc1LTEyLTEucGRm&type=amJtcw==
Daniel C. Peterson, "Prolegomena to the DNA Articles,"
FARMS Review 15/2 (2003), posted at
http://farms.byu.edu/pdf.php?filename=
NjE1MzAxNTgtMTUtMi5wZGY=&type=cmV2aWV3
David A. McClellan, "Detecting Lehi's Genetic Signature:
Possible, Probable, or Not?" FARMS Review 15/2 (2003),
posted at
http://farms.byu.edu/pdf.php?filename=
NjcwODc2NjI2LTE1LTIucGRm&type=cmV2aWV3
Matthew Roper, "Nephi's Neighbors: Book of Mormon Peoples
and Pre-Columbian Populations," FARMS Review 15/2
(2003), posted at
http://farms.byu.edu/pdf.php?filename=
MTA4MjI0NjcwNi0xNS0yLnBkZg==&type=cmV2aWV3
Matthew Roper, "Swimming in the Gene Pool: Israelite Kinship
Relations, Genes, and Genealogy," FARMS Review 15/2
(2003), posted at
http://farms.byu.edu/pdf.php?filename=
NDY5OTQ3NjYwLTE1LTIucGRm&type=cmV2aWV3
Brian D. Stubbs, "Elusive Israel and the Numerical Dynamics
of Population Mixing," FARMS Review 15/2 (2003),
posted at
http://farms.byu.edu/pdf.php?filename=
ODA1MTQ0NzM1LTE1LTIucGRm&type=cmV2aWV3
FAIR Web Site
Kevin L. Barney, "A Brief Review of Murphy and Southerton's
"Galileo Event'," http://www.fairlds.org/apol/bom/bom08.html
Doug Fabrizio Interview of Terryl L. Givens, Thomas Murphy,
and Scott Woodward, "KUER Radio West Science & Foundations
of the Book of Mormon,"
http://www.fairlds.org/pubs/woodward01/RadioWest.html
Brant Gardner, "The Tempest in a Teapot DNA Studies and
the Book of Mormon," http://www.fairlds.org/apol/bom/bom07.html,
also at
http://www.meridianmagazine.com/articles/030124fair.html
Cooper Johnson, "DNA and the Book of Mormon,"
http://www.fairlds.org/apol/bom/bom01.html
Allen Wyatt, "Motivation, Behavior, and Dissension,"
http://www.fairlds.org/apol/antis/200207.html
"Dr. Scott Woodward, DNA and the Book of Mormon,"
http://www.fairlds.org/pubs/woodward01/
Matthew Roper, “Nephi’s Neighbors: Book of Mormon Peoples and
Precolumbian Populations,” http://www.fairlds.org/pubs/conf/2003RopM.html
David Stewart, “DNA and the Book of Mormon,” http://www.fairlds.org/apol/bom/bom12.html
Michael R. Ash, “Is an Historical Book of Mormon Incompatible
with DNA Science?” http://www.fairlds.org/apol/brochures/BoMDNA.pdf
Michael R. Ash, “Were the Lehites Alone in the Americas?” http://www.fairlds.org/apol/brochures/BoMAlone.pdf
Michael R. Ash, “Who Are the Lamanites?” http://www.fairlds.org/apol/brochures/WhoAreLamanites.pdf
LDS
Church Web Site
"Mistakes in the News,"
http://www.lds.org/newsroom/mistakes/0,15331,3885-1-18078,00.html
Other
Web Sites
Jeff Lindsay, "Does DNA evidence refute the Book
of Mormon?"
http://www.jefflindsay.com/LDSFAQ/DNA.shtml
Jeff Lindsay, "DNA and the Book of Mormon,"
http://www.the-book-of-mormon.com/dna-evidence.html
Mike Segaloff, “DNA and the Book of Mormon,” http://www.the-book-of-mormon.com/dna-evidence.html
"Response from the Faithful to ‘DNA Evidence Does
Not Support the Book of Mormon Historic Record Claim’,"
http://www.greaterthings.com/Book_of_Mormon/DNA/
"BYU Professor Refutes Book of Mormon Claims,"
http://newsnet.byu.edu/story.cfm/41852/
Mel Tungate’s DNA & Book of Mormon web site has
postings from critics and defenders on this issue, at http://www.tungate.com/murphy.htm
[1] I am indebted to Matthew Roper for bringing some
of the articles mentioned herein to my attention.
[2] Theodore G. Schurr, “Mitochondrial DNA and the
Peopling of the New World: Genetic Variations Among Native
Americans Provide Further Clues to Who First Populated the
Americas and When
They Arrived,” American Scientist 88/3 (May-June 2000),
250.
[3] Because mtDNA is passed only by females to their
offspring, Targett’s mtDNA would not have come from Cheddar
Man, but from a common female ancestor.
[7] Skull shape alone cannot determine relatedness,
so one must rely on the mtDNA findings. For example, the skulls
of prehistoric Inuit (Eskimo) people are dolichocephalic,
while those of modern Inuit are brachycephalic.
[8] At this writing, the DNA data has not yet been
reported. In response to my inquiry about the status of the
DNA testing, Dr. Gonzalez sent me an e-mail on 17 June 2005,
saying that “We have got mtDNA results from both Pericues
and Peñon Woman but we are replicating our results with several
different laboratories around the world. Our final results
are not ready yet.”
[10] Jerry E. Bishop, “Strands of Time: A Geneticist’s
Work on DNA Bears Fruit for Anthropologists; Variations in
Fragments May Hail from Polynesia; The Controversy over Eve,”
Wall Street Journal 10 September 1993, 1.
[11] Blake Edgar, “The Polynesian Connection: Did
Ancient Hawaiians Teach California Indians How to Make Ocean-Going
Canoes?” Archaeology March/April 2005, 42-45.
[12] Brett Lee Shelton, JD, and Jonathan Marks, PhD,
“Genes and Native Identity,” GeneWatch 14/5 (September
2001). The paper has been posted on the organization’s web
site at http://www.gene-watch.org/genewatch/articles/14-5nativeidentity.html.
I acknowledge that the paper makes some unsupportable claims,
which we have omitted here. The article appeared under the
title “Genes & Native Identity” in Genetic Markers Not
a Valid Test of Native Identity.”
[13] Andrea K. C. Ribeiro-dos-Santos et al., “Heterogeneity
of Mitochondrial DNA Haplotypes in Pre-Columbian Natives of
the Amazon Region,” American Journal of Physical Anthropology
101 (1996): 26.
[14] Carles Lalueza et al., “Lack of Founding Amerindian
Mitochondrial DNA Lineages in Extinct Aborigenes from Tierra
del Fuego-Patagonia,” Human Molecular Genetics 6/1
(1997): 41.
[15] Ryan L. Parr et al., “Ancient DNA Analysis of
Fremont Amerindians of the Great Salt Lake Wetlands,” American
Journal of Physical Anthropology 99 (1996): 507.
[16] Jason A. Eshleman, Ripan S. Malhi, and David
Glenn Smith, “Mitochondrial DNA Studies of Native Americans:
Conceptions and Misconceptions of the Population Prehistory
of the Americas,”
13.
[18] One of my Norwegian great-uncles took his mother’s
maiden name for a surname because she had no brothers to perpetuate
her family name.
[19] Mark G. Thomas et al., “Y Chromosomes Traveling
South: The Cohen Modal Haplotype and the Origins of the Lemba-the
‘Black Jews of Southern Africa’,” American Journal of Human
Genetics 66 (2000): 684-5.
[20] Ripan S. Malhi and Jason A. Eshleman, “The Uses
and Limitations of DNA Based Ancestry Tests for Native Americans,”
5, citing H. J. Bandelt et al., “The Fingerprint of Phantom
Mutations in Mitochondrial DNA Data,” American Journal
of Human Genetics 71/5 (2002): 1150-60.
[21] D. Andrew Merriwether, David M. Reed, and Robert
E. Ferrell, “Ancient and Contemporary Mitochondrial DNA Variation
in the Maya,” 216-7.
[22] Ripan S. Malhi and Jason A. Eshleman, “The Uses
and Limitations of DNA Based Ancestry Tests for Native Americans,”
5-6, citing R. H. Ward et al., “Genetic and Linguistic Differentiation
in the Americas,”
Proceedings of the National Academy of Science USA
90 (1993): 10663-7.
[23] Ripan S. Malhi and Jason A. Eshleman, “The Uses
and Limitations of DNA Based Ancestry Tests for Native Americans,”
7.
[24] Frederika A. Kaestle and David Glenn Smith Smith,
“Ancient Mitochondrial DNA Evidence for Prehistoric Population
Movement: The Numic Expansion,” American Journal of Physical
Anthropology 115/1 (2001): 5.
[25] Ibid., 6. Parenthetical references have been
removed to make the paragraph flow more easily for the nonspecialist
reader.
[26] Connie J. Kolman and Noreen Tuross, “Ancient
DNA Analysis of Human Populations,” American Journal of
Physical Anthropology 111/1 (2000): 5.
[27] Separate studies at two British institutions,
Cambridge University and the University of Sussex, were reported
by Michael Day, “All About Eve,” New Scientist 161/2177
(13 March 1999), 4. See M. Schwartz and J. Vissing, Brief
Report: “Paternal Inheritance of Mitochondrial DNA,” New
England Journal of Medicine 347/8 (22 August 2002): 576-80;
in the same issue, see also the editorial by R. S. Williams,
“Another Surprise from the Mitochondrial Genome.” Similar
studies on animals such as mollusks and rodents have come
to the same conclusion. See the article and exchanges from
scientists on both sides of the issue in “Questioning evidence
for Recombination in Human Mitochondrial DNA,” Science
288 (16 June 2000): 1931a. The article has been posted at
http://www.sciencemag.org.
See also P. Awadalla, A. Eyre-Walker, and J. M. Smith, “Linkage
disequilibrium and recombination in hominid mitochondrial
DNA,” Science. 286/5994 (24 December1999): 2524-5.
[28] R. Sanders Williams, R. Sanders (2002), “Another
Surprise from the Mitochondrial Genome,” New England Journal
of Medicine, 347 (22 August 2002): 611.
[29]
Hans-Jürgen Bandelt et al., “Identification of Native American
Founder mtDNAs through the Analysis of Complete mtDNA Sequences:
Some Caveats,” 512.
[31] Ripan S. Malhi et al., “The Structure of Diversity
within New World Mitochondrial DNA Haplogroups: Implications
for the Prehistory of North America,” American Journal
of Human Genetics 70/4 (April 2002): 905.
[32] Another problem is heteroplasmy, where one inherits
from one’s mother two different mtDNAs in each cell. Presumably,
this arises because of mutation, and some have suggested that
it means the mutation rate is slower than expected. See Ann
Gibbons, “Calibrating the Mitochondrial Clock,” Science
279 (2 January 1998), 28-29.
[33] Jason A. Eshleman, Ripan S. Malhi, and David
Glenn Smith, “Mitochondrial DNA Studies of Native Americans:
Conceptions and Misconceptions of the Population Prehistory
of the Americas,”
12.
[34] The Bäuu Institute
is a private research organization that conducts research
in historical use studies; ethnographic and cultural impact
assessments; NAGPRA, NHPA, and other government mandated cultural
perspective studies; environmental impact assessments; market
research; specialized research; as well as literature reviews,
biblographic compilations, and textual accuracy reviews, for
both private corporations and government agencies.
[35] Peter N. Jones, “American Indian Demographic
History and Cultural Affiliation: A Discussion of Certain
Limitations on the Use of mtDNA and Y Chromosome Testing,”
AnthroGlobe Journal, September 2002, posted to the
Bäuu Institute web site, http://www.bauuinstitute.com/Articles/JonesmtDNA.pdf.
[52] Some of the earliest genetic studies of Native
Americans began with the presumption that Amerindian languages
clustered into three groups, which some linguists have challenged.
Sometimes, linguistic labels mask biological diversity.
[55] Ibid., 13; emphasis added.