Development of a Multiplex Single Base Extension Assay for Mitochondrial DNA Haplogroup Typing

Powledge and Mark Rose Genetic archaeology zooms in on the origins of modern humans. DNA analysis, as one scholar put it, is “the greatest archaeological excavation of all time. But two breakthroughs have made this possible: DNA analysis traced human ancestry back to an African “Eve,” setting off debate about how modern humans evolved. While there was general agreement that Homo erectus dispersed from Africa across Asia between 1 and 2 million years ago, what happened next remained a question. The “out-of-Africa” hypothesis contended that modern humans developed in Africa and migrated from there recently, driving H. Proponents of a “multiregional” hypothesis held that H.

Mitochondrial DNA levels as a marker of embryo viability in IVF

From a biological sciences perspective, the field that claims this pursuit is called systematics, which is defined as the study of biological diversity in an evolutionary context. Within the study of systematics, scientists trace the phylogeny, or evolutionary history, of a species or group of related species. The ideal of a systematist is to account for the evolutionary history of all species, dating back to the very origin of life. The modern systematist employs techniques that classify organisms based on anatomical and molecular characteristics.

Anatomically characterizing an organism involves two main approaches:

Jan 01,  · In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. This makes mitochondrial DNA less precise for genealogical dating than Y-chromosome DNA which accumulates one He used classical genetic markers to analyse DNA by proxy. This method studies differences in the.

We incorporated information on comparative patterns and rates of molecular evolution into phylogenetic analyses, using both a single-gene and a combined data approach. Sequence variability was distributed heterogeneously among the three domains of CR and the three codon positions of cyt b, but the two genes evolved at comparable rates, on average, and produced concordant topologies independent of the method used for phylogenetic reconstructions.

Phylogenetic trees suggest that Tragopan includes two main evolutionary lineages grouping caboti-temminckii clade A , and blythii-satyra clade B. A shorter CR sequence from one museum sample could not consistently resolve the position of T. The mtDNA phylogeny is better supported than alternative topologies inferred from morphological and behavioral traits and is compatible with a mechanism of allopatric speciation of Tragopan in two different episodes about 4 and 2 million years ago.

In those periods, the vicariant events that might have fostered allopatric speciation of Tragopan are represented by landscape changes that affected the Indohimalayan region after the sudden rising of the Himalayas less then 8 million years ago, and by climatic fluctuations during the Pleistocene less than 2 million years ago. Literature Cited Abdrakhmatov, K. Relatively recent construction of the Tien Shan inferred from GPS measurements of present-day crustal deformation rates.

Crossref , Google Scholar Avise, J.

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Neurophysiology Virtual Lab pilot Neurophysiology is the study of nervous system function. Primarily, it is connected with neurobiology, psychology, neurology, clinical neurophysiology, electrophysiology, biophysical neurophysiology, ethology, neuroanatomy, cognitive science and other brain sciences. Neuron Simulation Virtual Lab pilot This lab uses a graphical web-based Neuron simulator and models a section of excitable neuronal membrane using the Hodgkin-Huxley equations.

Various experiments will deal with the several parameters of Hodgkin-Huxley equations and will model resting and action potentials, voltage and current clamp, pharmacological effects of drugs that block specific channels etc. This lab complements some of the exercises in the Virtual Neurophysiology lab.

Many labs have the ability to conduct testing on nuclear DNA, which is the copy of DNA that exists in the nucleus of every cell. But only a few labs offer more specialized techniques, such as Y-chromosome or mitochondrial DNA analysis.

Doctors say mitochondrial donation will prevent mothers from transferring incurable genetic diseases to their children. Roughly one in 6, children worldwide are born with mitochondrial disease, and it causes their organs to slowly fail. Roughly babies born every year in the UK with this disease could be helped with the procedure. How Mitochondrial Replacement Works In , Discover published a report on the then-pending vote, and broke down the two approaches to three-person IVF: The first, called pronuclear transfer, is a more established procedure.

The donor embryo then contains just a cell membrane and mitochondria. The parental nucleus is implanted into this new shell and goes on developing. However, religious groups and other critics still fiercely dispute the ethics behind the therapy. Jacob Rees-Mogg, a Conservative member of parliament, expressed those concerns. The British government, bioethicists and research institutions all stand behind the technique. It would likely go into effect in October.

At that point, NHS doctors will work with families on a case-by-case basis to determine if they are eligible for the treatment. Now that the UK has taken a bold step in favor of science, more countries around the world could grow amenable to the procedure.

Human mitochondrial molecular clock

ATP synthase , which generates ATP in the matrix Specific transport proteins that regulate metabolite passage into and out of the matrix Protein import machinery Mitochondrial fusion and fission protein It contains more than different polypeptides , and has a very high protein-to-phospholipid ratio more than 3: This phospholipid was originally discovered in cow hearts in , and is usually characteristic of mitochondrial and bacterial plasma membranes.

Almost all ions and molecules require special membrane transporters to enter or exit the matrix. Proteins are ferried into the matrix via the translocase of the inner membrane TIM complex or via Oxa1.

Mitochondrial Eve is defined as the woman who is the matrilineal most recent common ancestor for all living down from mother to offspring, all mitochondrial DNA (mtDNA) in every living person is directly descended from hers. Mitochondrial Eve is the female counterpart of Y-chromosomal Adam, the patrilineal most recent common ancestor, although they lived thousands of years apart.

This was unexpected since their skeletal remains carry Neandertal-derived features. Researchers of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, have since worked on sequencing nuclear DNA from fossils from the cave, a challenging task as the extremely old DNA is degraded to very short fragments. The results now show that the Sima de los Huesos hominins were indeed early Neandertals.

Neandertals may have acquired different mitochondrial genomes later, perhaps as the result of gene flow from Africa. Until now it has been unclear how the 28 , year-old individuals found at the Sima de los Huesos “pit of bones” site in Northern Spain were related to Neandertals and Denisovans who lived until about 40, years ago.

A previous report based on analyses of mitochondrial DNA from one of the specimens suggested a distant relationship to Denisovans, which is in contrast to other archaeological evidence, including morphological features that the Sima de los Huesos hominins shared with Neandertals. Javier Trueba, Madrid Scientific Films “We have hoped for many years that advances in molecular analysis techniques would one day aid our investigation of this unique assembly of fossils”, explains Juan-Luis Arsuaga of the Complutense University in Madrid, Spain, who has led the excavations at Sima de los Huesos for three decades.

This finding indicates that the population divergence between Denisovans and Neandertals had already occurred by , years ago when the Sima de los Huesos hominins lived. They are consistent with a rather early divergence of , to , years ago of the modern human lineage from archaic humans”. Hominins from the Sima de los Huesos cave. Mitochondrial DNA seen in Late Pleistocene Neandertals may thus have been acquired by them later in their history, perhaps as a result of gene flow from Africa.

Dating

DNA typing now and before Each of us is genetically unique, and there are many cases in which it is convenient to make use of our genetic individuality: DNA provides one of the most specific methods of “typing” a person, but many features of ideal data are being violated when evidence has been gathered for criminal prosecution. Motivation Someone has committed a violent crime, and some blood was left at the crime scene.

To sort out the problem, the researchers extracted mitochondrial DNA from 11 ancient human fossil skeletons from Europe and Asia. Using radioactive carbon dating, the oldest was estimated to be.

Dating is never easy. Wilson , certainly one of the foremost molecular evolutionist in recent times , never shied from controversy. His lifelong interest in natural history and biological evolution gave him the uncanny ability to identify the unresolved, controversial issues of phylogeny and evolutionary theory that he and his associates could address with modern biochemical techniques Repeatedly he confronted biologists and anthropologists with data that challenged their cherished models.

For his work, he received a MacArthur Foundation fellowship, dubbed the “Genius Award” because the recipients are often outstanding but unconventional thinkers from diverse fields In Wilson and coworkers Rebecca Cahn and Mark Stoneking claimed they had evidence that the most recent maternal ancestor of all living humans was a woman living in Africa about , years ago They based their conclusion on the analysis of restriction maps of mitochondrial DNA taken from individuals representing different races and geographic origins.

Neanderthal

Rate variability[ edit ] A major assumption of the molecular clock theory is that mutations within a particular genetic system occur at a statistically uniform rate and this uniform rate can be used for dating genetic events. In practice the assumption of a single uniform rate is an oversimplification. Though a single mutation rate is often applied, it is often a composite or an average of several different mutation rates.

Random genetic drift may also cause the loss of mutations.

The other team, reporting in Science, analyzed a portion of nuclear and mitochondrial DNA from a 28,year-old specimen, using a new method that increases the quantity of DNA fragments that can be extracted and sequenced from ancient specimens.

July 20, by Team Celebration 1 Comment Mitochondrial Eve is estimated to have lived around , years ago, most likely in East Africa, when Homo sapiens sapiens anatomically modern humans were developing as a population distinct from other human sub-species. Wilson see Cann, et al. The biblical-story imagery was reinforced by showing the woman offering an apple to the man. A word of explanation is in order. For decades, evolutionists had been trying to determine the specific geographical origin of humans—whether we all came from one specific locale, or whether there were many small pockets of people placed around the globe.

When they set out to determine the specific geographical origin of humans, a curious piece of data came to light.

UK Becomes First Country to Approve ‘Three

So to fill in some of the gaps, at least for autosomal DNA tests, let me introduce you to a wonderful website: The brainchild of Curtis Rogers and John Olson a distant DNA cousin of mine , Gedmatch offers a range of utilities that make it a little easier to extract every bit of potentially useful information out of your autosomal test results. It particularly helps you identify cousins with whom you can share research.

Gedmatch works with the raw results from deCODEme as well. And you can upload a GEDCOM with your family tree to see if you can identify common lines, using technology to help with traditional paper-trail genealogy too. You can choose to see information about selected matches in a chromosome browser.

Studies involving this mitochondrial DNA, or mtDNA, raise a number of questions. First, is it possible to reconstruc Researchers used a new statistical method that supposedly assured that the “Mother of all humans lived , years ago.” 2. The robustness of mitochondrial Eve dating. Theoretical Population Biology. Published online.

Received May 16; Accepted Jul 3. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. This article has been cited by other articles in PMC. Abstract Aim To provide a screening tool to reduce time and sample consumption when attempting mtDNA haplogroup typing.

Methods A single base primer extension assay was developed to enable typing, in a single reaction, of twelve mtDNA haplogroup specific polymorphisms. For validation purposes a total of samples were tested including 73 samples successfully haplogroup typed using mtDNA control region CR sequence data, 21 samples inconclusively haplogroup typed by CR data, 20 samples previously haplogroup typed using restriction fragment length polymorphism RFLP analysis, and 31 samples of known ancestral origin without previous haplogroup typing.

mtDNA : The Eve Gene

Then there was the person who wanted to know about their hologroup. I wondered if I needed 3D glasses for that one. Someone else wondered about their helpgroup.

A UCLA-led team of researchers has demonstrated a new method to conduct research on mitochondrial DNA diseases — a broad group of debilitating genetic disorders that can affect the brain, heart and muscles.

Previous studies of the human mitochondrial DNA clock used a range of generation time estimates without any concrete knowledge of how generation times might vary by ethnicity. In this study, I document new data suggesting a historically faster generation time in Africans, which may explain why African people groups tend to harbor more mitochondrial DNA differences than non-African groups. These results underscore the biblical model of human origins in which the major ethnic groups originate simultaneously at the Tower of Babel event, and these findings simultaneously undercut the validity of the evolutionary out-of-Africa model.

A plain reading of Scripture indicates that the major ethnic groups present today likely originated simultaneously when languages were confused at the Tower of Babel event Genesis Following the evolution of Africans, evolutionists claim that a small subpopulation of humans migrated out of Africa tens of thousands of years later to give rise to the modern non-African people groups Gomez, Hirbo, and Tishkoff When assuming human-primate common ancestry and rooting the human mtDNA tree on chimpanzee mtDNA sequence, evolutionists have observed that African groups split off first before non-African groups Ingman et al.

Evolutionary ancestry assumptions aside, evolutionists have also pointed to the higher levels of mtDNA diversity in African people groups as consistent with the more ancient origin of Africans Gomez, Hirbo, and Tishkoff Nevertheless, because the mtDNA mutation rate had been measured only in non-African ethnic groups, in my prior studies I made conclusions about the origin of mtDNA differences in only these people groups, leaving the question of African origins unaddressed. A careful reanalysis of the primary data from my most recent study Jeanson b indicates that the mutation rate in non-Africans might be sufficient to explain mtDNA differences across all ethnic groups.

The Age of the Earth: Evidence for a Young Earth, Young Earth Evidences.

Reference data were from previously published studies [ 7 , 8 , 16 , 40 — 46 ]. We identified two cases of possible maternal kinship in multiple and neighbouring burials. Interestingly, isotope analyses of the two Flakstad individuals A A and A B suggested they were unrelated, as they consumed different diets and were probably from different social strata [ 47 ]. For the purposes of the statistical analyses, to avoid overrepresentation of lineages owing to potential family relationship, the duplicate sequences were removed.

This left 43 individual sequences, representing 34 mtDNA haplotypes. Twenty-four of these were detected in our modern mtDNA database Europeans.

This method compares the amount of genetic difference between living organisms and computes an age based on well-tested rates of genetic mutation over time. Since genetic material (like DNA) decays rapidly, the molecular clock method can’t date very old fossils.

Through random drift or selection the female-lineage may trace back to a single female, such as Mitochondrial Eve Simplified Human mitochondrial phylogeny Without a DNA sample, it is not possible to reconstruct the complete genetic makeup genome of any individual who died very long ago. By analysing descendants’ DNA, however, parts of ancestral genomes are estimated by scientists. Branches are identified by one or more unique markers which give a mitochondrial “DNA signature” or ” haplotype ” e.

Scientists sort mitochondrial DNA results into more or less related groups, with more or less recent common ancestors. This leads to the construction of a DNA family tree where the branches are in biological terms clades , and the common ancestors such as Mitochondrial Eve sit at branching points in this tree. Major branches are said to define a haplogroup e. CRS belongs to haplogroup H , and large branches containing several haplogroups are called “macro-haplogroups”.

The mitochondrial clade which Mitochondrial Eve defines is the species Homo sapiens sapiens itself, or at least the current population or ” chronospecies ” as it exists today. In principle, earlier Eves can also be defined going beyond the species, for example one who is ancestral to both modern humanity and Neanderthals , or, further back, an “Eve” ancestral to all members of genus Homo and chimpanzees in genus Pan.

According to current nomenclature, Mitochondrial Eve’s haplogroup was within mitochondrial haplogroup L because this macro-haplogroup contains all surviving human mitochondrial lineages today. The variation of mitochondrial DNA between different people can be used to estimate the time back to a common ancestor, such as Mitochondrial Eve. This works because, along any particular line of descent, mitochondrial DNA accumulates mutations at the rate of approximately one every years.

Etruscans of Italy Are Originated from Anatolia: Genetic Evidences


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