sábado, 29 de enero de 2011

Haplogroup A is believed to have arisen in Asia some 30,000-50,000 years before present. Its ancestral haplogroup was Haplogroup N.

Its highest frequencies are among Indigenous peoples of the Americas, its largest overall population is in East Asia, and its greatest variety (which suggests its origin point) is in East Siberia. Thus, it might have originated in and spread from the Far East or Central Asia.[2]


Its subgroup A1 is found in northern and central Asia, while its subgroup A2 is found in Siberia and is also one of five mtDNA haplogroups found in the indigenous peoples of the Americas, the others being B, C, D, and X.[2]

Haplogroup A is the most common haplogroup among the Chukchis, Eskimos, Na-Denes, and many Amerind ethnic groups of North and Central America. 7.5% of the Japanese belong to haplogroup A (mostly A4 and A5). 2% of Turkish people belong to haplogroup A. [3]


These are my cousin's Mtdna numbers

LocationMutation TypeNucleotide Change
16111 Substitution C > t
16223 Substitution C > t
16290 Substitution C > t
16319 Substitution G > a
16362 Substitution T > c

Photo Index

These are my grandfather's Mtdna numbers

LocationMutation TypeNucleotide Change
16111 Substitution C > t
16223 Substitution C > t
16290 Substitution C > t
16319 Substitution G > a
16355 Substitution C > t
16362 Substitution T > c

Juanita, the Ice Maiden

Inca Mummies / Incan Mummies / Inca Ice Mummy Tombs
Hands of Juanita, the "Ice Maiden," Peru

Momia Juanita (Spanish for "Mummy Juanita"), better known in English as the "Ice Maiden," is the frozen body of an Inca girl. She lived to be approximately 11–15 years old, and probably died sometime between 1450 and 1480.

She was discovered on Mount Ampato (part of the Andes cordillera) in southern Peru in 1995 by anthropologist Johan Reinhard and his Peruvian climbing partner Miguel Zarate. Also known as the Lady of Ampato and the Frozen Lady, Juanita has been on display in a museum in Arequipa, Peru, since 1996, except for one month in 1996 (see below) and when she was on tour in Japan in 1999.

"Juanita" was remarkably well-preserved after 500 years, making her one of the more important recent finds; indeed, this discovery was chosen by Time magazine, in 1995, as one of the world's top ten discoveries.

When initially weighed in Arequipa, the bundle containing "Juanita" weighed over 90 pounds. When they tried to lift it on Ampato's summit, Reinhard and Zarate realized that the heavy body mass was probably due to the freezing of the flesh. This preservation allowed biological tests to be run later on the lung, liver, and muscle tissue. These offered new insights into Inca health and nutrition during the reign of the Sapa Inca Pachacuti.

Discovery of the Ice Maiden, Juanita

Johan Reinhard had made various ascents in several mountain ranges, including the Himalayas (in Nepal), the Alps, and the Andes. As an archaeologist, he had studied Machu Picchu, Chavín, and the Nazca Lines. As part of his high-altitude archaeology project, he had made over 200 ascents above 17,000 ft in four Andean countries prior to the discovery of the Ice Maiden in 1995. These included excavations on several peaks in the region of Arequipa in southern Peru together with Peruvian archaeologist Jose Antonio Chavez. These mountains were the legendary homes of the Apus, mountain deities that Peruvians have feared and worshipped since before the time of the Inca.

In September 1995, during an ascent of Mt. Ampato (20,700 ft), Reinhard and Miguel Zárate, one of his climbing companions from previous expeditions, found inside the crater a bundle that had fallen from an Inca site on the summit. Owing to melting caused by volcanic ash from the nearby erupting volcano of Sabancaya, most of the Inca burial site had collapsed down a gully that led into the crater. To their astonishment, the bundle turned out to contain a remarkably well-preserved body of a young girl. In addition, they found—strewn about the mountain slope down which the body had fallen— many items that had been left as offerings to the Inca gods; these included statues and food items. A couple of days later, the body and the objects were taken to Arequipa. The body was initially kept in a special refrigerator at Catholic University, where Chavez was Director of the Archaeology Department.

The body caused a sensation in the scientific world due to its well-preserved condition. Between May and June 1996, it was exhibited in the headquarters of National Geographic Society in Washington D.C., in a specially acclimatized conservation/display unit engineered by the Carrier Corporation, which donated two of these units to Catholic University. In its June, 1996, issue, National Geographic included an article dedicated to the discovery of Juanita, and in 2005, Johan Reinhard published a detailed account in his book The Ice Maiden.". The Ice Maiden is currently on display for part of the year at Catholic University's Museum of Andean Sanctuaries (Museo Santuarios Andinos) in Arequipa.


First Americans Endured 20,000-Year Layover

Jennifer Viegas, Discovery News

Reminiscent of History
Reminiscent of History

Feb. 13, 2008 -- The first New World entrants, who likely came from Asia, endured a 20,000-year "layover" on a strip of land called Beringia that once connected Alaska to Siberia, according to a new research model.

The model combines genetics with climate, archaeological and geological information to paint a vivid picture of how the Americas were first populated by approximately 1,000 to 5,000 people, instead of just 100, as was previously believed.

The findings, published this week in the journal PLoS ONE, also explain why Native Americans are genetically similar to east central Asians, but show noticeable differences too.

"Twenty thousand years is sufficient time to create the genetic polymorphisms that distinguish Native Americans, although I don't think Native Americans are a different race," co-author Connie Mulligan told Discovery News.

"The genetic variation that distinguishes all Native Americans from other, non-Native American groups would have evolved during...the Beringian occupation," added Mulligan, who is a professor of anthropology at the University of Florida and serves as assistant director of the university's Genetics Institute.

She and her colleagues believe two massive glaciers prevented the Beringians from entering the New World over the multi-millennial period. They seemed to be eager to leave, however, and for good reason.

"Although Beringia was not covered in glaciers, it still would have been a cold, harsh climate, such that life would have been possible, but not luxurious," Mulligan said. "I would compare it to modern-day Siberia or Mongolia in the winters."

When the glaciers diminished, the melting was probably rapid, "a difference that could be seen over a person's lifetime," she said.

Haplogroup A

Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females.


Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan.


Mitochondrion-derived reactive oxygen species possibly play an important role in the pathogenesis of atherosclerosis and atherothrombotic cerebral infarction, because mitochondria in vascular endothelial cells are the major site of superoxide production. In the present study, we surveyed mitochondrial haplogroups associated with atherothrombotic cerebral infarction in 1081 Japanese subjects. Twenty-six mitochondrial single nucleotide polymorphisms of 11 major mitochondrial haplogroups (F, B, A, N9a, M7a, M7b, M7c, G1, G2, D4, and D5) were determined by use of 28-plex PCR and fluorescent beads combined with sequence-specific oligonucleotide probes. Multivariate logistic regression analysis with adjustment for conventional risk factors revealed that mitochondrial haplogroup A was associated with atherothrombotic cerebral infarction in female subjects (P< 0.05). However, no significant association was detected for males. Our study shows that haplogroup A confers an increased risk of atherothrombotic cerebral infarction in Japanese females. Validation of our findings will require additional studies with independent subject panels.

[PubMed - indexed for MEDLINE]


MtDNA as a Diagnostic Tool

[0008] MtDNA sequence dynamics are important diagnostic tools. Mutations in mtDNA are often preliminary indicators of developing disease, often associated with nuclear mutations, and act as biomarkers specifically related to disease, such as but not limited to: tissue damage and cancer from smoking and exposure to second hand tobacco smoke (Lee et al., 1998; Wei, 1998); longevity, based on accumulation of mitochondrial genome mutations beginning around 20 years of age and increasing thereafter (von Wurmb, 1998); metastatic disease caused by mutation or exposure to carcinogens, mutagens, ultraviolet radiation (Birch-Machin, 2000); osteoarthritis; cardiovascular, Alzheimer, Parkinson disease (Shoffner et al., 1993; Sherratt et al., 1997;Zhang et al, 1998); age associated hearing loss (Seidman et al., 1997); optic nerve degeneration and cardiac dysrhythmia (Brown et al., 1997; Wallace et al., 1988); chronic progressive external exophthalmoplegia (Taniike et al., 1992); atherosclerosis (Bogliolo et al., 1999); papillary thyroid carcinomas and thyroid tumours (Yeh et al., 2000); as well as others (e.g. Naviaux, 1997; Chinnery and Tumbull, 1999;).

[0009] Mutations at specific sites of the mitochondrial genome can be associated with certain diseases. For example, mutations at 4216, 4217 and 4917 are associated with Leber's Hereditary Optic Neuropathy (LHON) (Mitochondrial Research Society; Huoponen (2001); MitoMap).

A mutation at 15452 was found in 5/5 patients to be associated with ubiquinol cytochrome c reductase (complex III) deficiency (Valnot et al. 1999). However, mutations at these sites were not found to be associated with prostate cancer.

[0010] Specifically, these alterations include point mutations (transitions, transversions), deletions (one base to thousands of bases), inversions, duplications, (one base to thousands of bases), recombinations and insertions (one base to thousands of bases).

In addition, specific base pair alterations, deletions, or combinations thereof are associated with early onset of prostate, skin, and lung cancer, as well as aging (e.g. Polyak et al., 1998), premature aging, exposure to carcinogens (Lee et al., 1998), etc.

[0011] Since mtDNA is passed to offspring exclusively through the ovum, it is imperative to understand mitochondrial sequences through this means of inheritance. The sequence of mtDNA varies widely between maternal lineages (Ward et al., 1991), hence mutations associated with disease must be clearly understood in comparison to this variation.

For example, a specific T to C transition noted in the sequence of several individuals, associated with a specific cancer, could in reality be natural variation in a maternal lineage widespread in a given particular geographical area or associated with ethnicity.

For example, Native North Americans express an unusually high frequency of adult onset diabetes. In addition, all North American Natives are genetically characterized by five basic maternal lineages designated A, B, C, D, and X (Schurr et al., 1990; Stone and Stoneking, 1993; Smith et al., 1999).

Lineage A is distinguished by a simple point mutation resulting in a Hae III site at bp 663 in the mitochondrial genome, yet there is no causative relationship between this mutation and the adult onset of diabetes. In addition, even within lineage clusters there is sequence variation.

[0012] Outside of the specific markers associated with a particular lineage there is more intrapopulation variation than interpopulation sequence variation (Easton et al., 1996; Ward et al., 1991, 1993;) This divergence must be understood for optimal identification of disease associated mutations, hence a maternal line study approach (Parsons et al., 1997), mimicking the strengths of a longitudinal design (i.e. subject tracking over a substantial period of time), must be used to identify mutations directly associated with disease, as opposed to mutations without disease association.

Moreover, particular substances, such as second hand tobacco smoke, low levels of asbestos, lead, all known mutagens and at low levels in many environments, may be the cause of specific point mutations, but not necessarily a disease specific marker. Hence, a substantial mtDNA sequence database is a clear prerequisite to accurate forecasting of potential disease as a natural process, or through exposure to causative agents.

Furthermore, the entire molecule must be sequenced for its full information content. The entire suite of point mutations (transitions, transversions), deletions (one base to thousands of bases), inversions, duplications, (one base to thousands of bases), recombinations and insertions (one base to thousands of bases) must be characterized as a whole over the entire mitochondrial genome.

This ensures that all possible information available in the mitochondrial genome is captured. Although the genome of cytoplasmic mitochondria (16,569 bp) has been sequenced at an individual level, like its nuclear counterpart, the mitochondrial genome has not been sequenced at a population level for use as a diagnostic tool.

[0013] Recently mitochondria have been implicated in the carcinogenic process because of their role in apoptosis and other aspects of tumour biology (Green & Reed, 1998, Penta et al., 2001), in particular somatic mutations of mtDNA (mtDNA) have been observed in a number of human tumours (Habano et al. 1998; Polyak et al. 1998; Tamura et al. 1999; Fliss, et al. 2000).

These latter findings were made more interesting by the claims that the particular mtDNA mutations appeared to be homoplasmic (Habano et al. 1998; Polyak et al. 1998; Fliss, et al. 2000). Additionally researchers have found that ultraviolet radiation (UV) is important in the development and pathogenesis of non-melanoma skin cancer (NMSC) (Weinstock 1998; Rees, 1998) and UV induces mtDNA damage in human skin (Birch-Machin, 2000a).

[0014] Moreover, through time, mitochondrial sequence loses integrity. For example, the 4977 bp deletion increases in frequency with age (Fahn et al., 1996). Early in life, this deletion begins to occur in small numbers of mitochondria. By age 80, a substantial number of molecules have been deleted. This deletion characterizes the normal aging process, and as such serves as a biomarker for this process. Quantification of this aging process may allow medical or other interventions to slow the process.

[0015] This application of mitochondrial genomics to medicine has been overlooked because mtDNA has been used primarily as a tool in population genetics and more recently in forensics; however, it is becoming increasingly evident that the information content of mtDNA has substantial application in the field of medical diagnostics.

Moreover, sequencing the entire complement of mtDNA was a laborious task before the recent advent of high capacity, high-throughput robotic DNA sequencing systems. In addition, population geneticists were able to gather significant data from two highly variable areas in the control region; however, these small regions represent a small portion of the overall genome, less than 10%, meaning that 90% of the discriminating power of the information is left unused! Significantly, many disease associated alterations are outside of the control region.

The character of the entire genome should be considered to include all sequence information for accurate and highly discriminating diagnostics.

The peopling of the new world

Fuegian skull (drawn in the 19th century).

Pre-Columbian America is not the single, unbroken, huge Amerindian territory that has been claimed until recently. The Amerinds (followed by the Inuit and Aleuts) did not enter a "new world" completely uninhabited by humans.

That the Aleuts and Inuit Eskimo from Siberia have been the most recent pre-Columbian arrivals before the post-Columbian European (and African!) invasion has been known for a long time.But these people were obviously not Amerinds and lived more or less out of sight in the remote far north. That the Na-Dene arrived before the Aleut-Inuit but after the Amerinds-proper has also been known for a while but since they were very similar to the Amerinds-proper, that did not pose a threat to the "First Americans" theory.

What has been realized only very recently on the basis of DNA analyses is that there must have been earlier waves of "Paleoamerinds" although the number of these earlier arrivals must have been small and their archaeological sites few and hard to find.

The existence of Americans "before the first Americans" has not fully sunk in everywhere.

Indeed, there is fierce resistance against the very idea by US Amerind groups who stand to lose their "First American" status and also could find themselves confronted with the very same accusation that they have (rightly) hurled at the Europeans: that they had evicted other, earlier people from their lands and perhaps had even tried to exterminate them.

Transferring persent-day moralities into prehistoric people is always a futile excercise that can lead into deep and troubled waters. One can sympathize with the Amerinds who have indeed much to feel aggrieved about.

Sympathy should never hinder the collection nor an unprejudiced evaluation of the evidence - unless we want to live in a fantasy world.

Latin-Americans of all colours and races take a far more relaxed attitude than is common in the US. It is not coincidence that it was the Chilean site of Monte Verde that has first threatened the heroic US "Clovis first" fantasy (which was definitively buried only in March 2007 - see Clovis First).

Of course, very many questions remain - but the DNA studies done so far give a clear message: the Fuegians, Patagonians and (most likely the he Pericu ) are not Amerinds. They were in the Americas first. The geographical locations of the suggested five prehistoric American waves of migration also seem to support this view, as does the mitochondrial haplotypes that occur (resp. do not occur) among Fuegians/Patagonians and among Amerinds.

The route that these four or five postulated migratury waves into America took is less certain. If the Australians (as they must have done) could reach Australia over the open sea around 50,000 years ago, a coastal route along the north American coast even in the deepest ice age is conceivable.

What is odd about the discussion of the Bering Strait is that walking is usually taken for granted, as if boats along the coast were no option for the first Americans. In fact, as the Yamana and Kwaseqars of Tierra del Fuego demonstrate, the "First Americans" could not only have done their migrations by boat, they could even have done so naked. We must not underestimate the stamina of these ancestors!


mtDNA from hair and nail clarifies the genetic relationship of the 15th century Qilakitsoq Inuit mummies.


Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, AZ 85721, USA. mtpgilbert@gmail.com

Erratum in

  • Am J Phys Anthropol. 2007 Aug;133(4):1174.


The 15th century Inuit mummies excavated at Qilakitsoq in Greenland in 1978 were exceptionally well preserved and represent the largest find of naturally mummified specimens from the Arctic. The estimated ages of the individuals, their distribution between two adjacent graves, the results of tissue typing, and incomplete STR results led researchers to conclude that the eight mummies formed two distinct family groups: A grandmother (I/5), two daughters (I/3, I/4), and their two children (I/1, I/2) in one grave, and two sisters (II/6, II/8) and a daughter (II/7) of one of them in the other. Using mtDNA from hair and nail, we have reanalyzed the mummies. The results allowed the unambiguous assignment of each of the mummies to one of three mtDNA haplogroups: A2b (I/5); A2a (I/2, I/3, II/6, II/8); A2a-311 (I/1, I/4, II/7), excluded some of the previous relations, and pointed to new ones. I/5 is not the grandmother/mother of the individuals in Grave I, and she is not maternally related to any of the seven other mummies; I/3 and I/4 are not sisters and II/7 is neither the daughter of II/6 nor of II/8. However, I/1 may be the child of either I/4 or II/7 and these two may be sisters. I/2 may be the son of I/3, who may be the daughter of either II/6 or II/8, and these two may be sisters. The observation of haplogroups A2a and A2b amongst the 550-year-old Inuit puts a lower limit on the age of the two lineages in Greenland.

Amerindian poo

DNA from Pre-Clovis Human Coprolites in Oregon, North America

  1. M. Thomas P. Gilbert1,*,
  2. Dennis L. Jenkins2,*,
  3. Anders Götherstrom3,
  4. Nuria Naveran4,
  5. Juan J. Sanchez5,
  6. Michael Hofreiter6,
  7. Philip Francis Thomsen1,
  8. Jonas Binladen1,
  9. Thomas F. G. Higham7,
  10. Robert M. Yohe II8,
  11. Robert Parr8,
  12. Linda Scott Cummings9 and
  13. Eske Willerslev1,

+ Author Affiliations

  1. 1 Centre for Ancient Genetics, University of Copenhagen, Universitetsparken 15, 2100 Copenhagen, Denmark.
  2. 2 Museum of Natural and Cultural History, 1224 University of Oregon, Eugene, OR 97403-1224, USA.
  3. 3 Department of Evolutionary Biology, Uppsala University, Norbyvagten 18D, 74236 Uppsala, Sweden.
  4. 4 Instituto de Medicina Legal, Facultad de Medicina, University of Santiago de Compostela, San Francisco s/n 15782, Santiago de Compostela, Spain.
  5. 5 National Institute of Toxicology and Forensic Science, Canary Islands Delegation, 38320 Tenerife, Spain.
  6. 6 Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103 Leipzig, Germany.
  7. 7 Research Laboratory for Archaeology and the History of Art, Dyson Perrins Building, South Parks Road, Oxford, OX1 3QY, UK.
  8. 8 Department of Sociology/Anthropology, California State University, 9001 Stockdale Highway, Bakersfield, CA 93311, USA.
  9. 9 Palaeo Research Institute, 2675 Youngfield Street, Golden, CO 80401, USA.
  1. To whom correspondence should be addressed. E-mail: ewillerslev@bi.ku.dk
  • * These authors contributed equally to this work.


The timing of the first human migration into the Americas and its relation to the appearance of the Clovis technological complex in North America at about 11,000 to 10,800 radiocarbon years before the present (14C years B.P.) remains contentious. We establish that humans were present at Paisley 5 Mile Point Caves, in south-central Oregon, by 12,300 14C years B.P., through the recovery of human mitochondrial DNA (mtDNA) from coprolites, directly dated by accelerator mass spectrometry. The mtDNA corresponds to Native American founding haplogroups A2 and B2. The dates of the coprolites are >1000 14C years earlier than currently accepted dates for the Clovis complex.