Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.

Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most multicellular organisms, mitochondrial DNA is inherited only from the mother's ovum. There are theories, however, that paternal mtDNA transmission in humans can occur under certain circumstances.[1]

Mitochondrial inheritance is therefore non-Mendelian, as Mendelian inheritance presumes that half the genetic material of a fertilized egg (zygote) derives from each parent.

Eighty percent of mitochondrial DNA codes for mitochondrial RNA, and therefore most mitochondrial DNA mutations lead to functional problems, which may be manifested as muscle disorders (myopathies).

Because they provide 30 molecules of ATP per glucose molecule in contrast to the 2 ATP molecules produced by glycolysis, mitochondria are essential to all higher organisms for sustaining life. The mitochondrial diseases are genetic disorders carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight problems with any one of the numerous enzymes used by the mitochondria can be devastating to the cell, and in turn, to the organism.

In humans, mitochondrial DNA (mtDNA) forms closed circular molecules that contain 16,569,[2][3] DNA base pairs,[4] with each such molecule normally containing a full set of the mitochondrial genes. Each human mitochondrion contains, on average, approximately 5 such mtDNA molecules, with the quantity ranging between 1 and 15.[4] Each human cell contains approximately 100 mitochondria, giving a total number of mtDNA molecules per human cell of approximately 500.[4]

Because mitochondrial diseases (diseases due to malfunction of mitochondria) can be inherited both maternally and through chromosomal inheritance, the way in which they are passed on from generation to generation can vary greatly depending on the disease. Mitochondrial genetic mutations that occur in the nuclear DNA can occur in any of the chromosomes (depending on the species). Mutations inherited through the chromosomes can be autosomal dominant or recessive and can also be sex-linked dominant or recessive. Chromosomal inheritance follows normal Mendelian laws, despite the fact that the phenotype of the disease may be masked.

Because of the complex ways in which mitochondrial and nuclear DNA "communicate" and interact, even seemingly simple inheritance is hard to diagnose. A mutation in chromosomal DNA may change a protein that regulates (increases or decreases) the production of another certain protein in the mitochondria or the cytoplasm; this may lead to slight, if any, noticeable symptoms. On the other hand, some devastating mtDNA mutations are easy to diagnose because of their widespread damage to muscular, neural, and/or hepatic tissues (among other high-energy and metabolism-dependent tissues) and because they are present in the mother and all the offspring.

Mitochondrial genome mutations are passed on 100% of the time from mother to all her offspring. So, if a female has a mitochondrial trait, all offspring inherit it. However, if a male has a mitochondrial trait, no offspring inherit it. The number of affected mtDNA molecules inherited by a specific offspring can vary greatly because

It is possible, even in twin births, for one baby to receive more than half mutant mtDNA molecules while the other twin may receive only a tiny fraction of mutant mtDNA molecules with respect to wildtype (depending on how the twins divide from each other and how many mutant mitochondria happen to be on each side of the division). In a few cases, some mitochondria or a mitochondrion from the sperm cell enters the oocyte but paternal mitochondria are actively decomposed.

Genes in the human mitochondrial genome are as follows.

It was originally incorrectly believed that the mitochondrial genome contained only 13 protein-coding genes, all of them encoding proteins of the electron transport chain. However, in 2001, a 14th biologically active protein called humanin was discovered, and was found to be encoded by the mitochondrial gene MT-RNR2 which also encodes part of the mitochondrial ribosome (made out of RNA):

Unlike the other proteins, humanin does not remain in the mitochondria, and interacts with the rest of the cell and cellular receptors. Humanin can protect brain cells by inhibiting apoptosis. Despite its name, versions of humanin also exist in other animals, such as rattin in rats.

The following genes encode rRNAs:

The following genes encode tRNAs:

In humans, the light strand of mtDNA carries 28 genes and the heavy strand of mtDNA carries only 9 genes.[5] Eight of the 9 genes on the heavy strand code for mitochondrial tRNA molecules. Human mtDNA consists of 16,569 nucleotide pairs. The entire molecule is regulated by only one regulatory region which contains the origins of replication of both heavy and light strands. The entire human mitochondrial DNA molecule has been mapped[1][2].

The genetic code is, for the most part, universal, with few exceptions: mitochondrial genetics includes some of these. For most organisms the "stop codons" are "UAA", "UAG", and "UGA". In vertebrate mitochondria "AGA" and "AGG" are also stop codons, but not "UGA", which codes for tryptophan instead. "AUA" codes for isoleucine in most organisms but for methionine in vertebrate mitochondrial mRNA.

There are many other variations among the codes used by other mitochondrial m/tRNA, which happened not to be harmful to their organisms, and which can be used as a tool (along with other mutations among the mtDNA/RNA of different species) to determine relative proximity of common ancestry of related species. (The more related two species are, the more mtDNA/RNA mutations will be the same in their mitochondrial genome).

Using these techniques, it is estimated that the first mitochondria arose around 1.5 billion years ago. A generally accepted hypothesis is that mitochondria originated as an aerobic prokaryote in a symbiotic relationship within an anaerobic eukaryote.

Mitochondrial replication is controlled by nuclear genes and is specifically suited to make as many mitochondria as that particular cell needs at the time.

Mitochondrial transcription in Human is initiated from three promoters, H1, H2, and L (heavy strand 1, heavy strand 2, and light strand promoters). The H2 promoter transcribes almost the entire heavy strand and the L promoter transcribes the entire light strand. The H1 promoter causes the transcription of the two mitochondrial rRNA molecules.[6]

When transcription takes place on the heavy strand a polycistronic transcript is created. The light strand produces either small transcripts, which can be used as primers, or one long transcript. The production of primers occurs by processing of light strand transcripts with the Mitochondrial RNase MRP (Mitochondrial RNA Processing). The requirement of transcription to produce primers links the process of transcription to mtDNA replication. Full length transcripts are cut into functional tRNA, rRNA, and mRNA molecules.[citation needed]

The process of transcription initiation in mitochondria involves three types of proteins: the mitochondrial RNA polymerase (POLRMT), mitochondrial transcription factor A (TFAM), and mitochondrial transcription factors B1 and B2 (TFB1M, TFB2M). POLRMT, TFAM, and TFB1M or TFB2M assemble at the mitochondrial promoters and begin transcription. The actual molecular events that are involved in initiation are unknown, but these factors make up the basal transcription machinery and have been shown to function in vitro.[citation needed]

Mitochondrial translation is still not very well understood. In vitro translations have still not been successful, probably due to the difficulty of isolating sufficient mt mRNA, functional mt rRNA, and possibly because of the complicated changes that the mRNA undergoes before it is translated.[citation needed]

The Mitochondrial DNA Polymerase (Pol gamma, encoded by the POLG gene) is used in the copying of mtDNA during replication. Because the two (heavy and light) strands on the circular mtDNA molecule have different origins of replication, it replicates in a D-loop mode. One strand begins to replicate first, displacing the other strand. This continues until replication reaches the origin of replication on the other strand, at which point the other strand begins replicating in the opposite direction. This results in two new mtDNA molecules. Each mitochondrion has several copies of the mtDNA molecule and the number of mtDNA molecules is a limiting factor in mitochondrial fission. After the mitochondrion has enough mtDNA, membrane area, and membrane proteins, it can undergo fission (very similar to that which bacteria use) to become two mitochondria. Evidence suggests that mitochondria can also undergo fusion and exchange (in a form of crossover) genetic material among each other. Mitochondria sometimes form large matrices in which fusion, fission, and protein exchanges are constantly occurring. mtDNA shared among mitochondria (despite the fact that they can undergo fusion).[citation needed]

Mitochondrial DNA is susceptible to damage from free oxygen radicals from mistakes that occur during the production of ATP through the electron transport chain. These mistakes can be caused by genetic disorders, cancer, and temperature variations. These radicals can damage mtDNA molecules or change them, making it hard for mitochondrial polymerase to replicate them. Both cases can lead to deletions, rearrangements, and other mutations. Recent evidence has suggested that mitochondria have enzymes that proofread mtDNA and fix mutations that may occur due to free radicals. It is believed that a DNA recombinase found in mammalian cells is also involved in a repairing recombination process. Deletions and mutations due to free radicals have been associated with the aging process. It is believed that radicals cause mutations which lead to mutant proteins, which in turn led to more radicals. This process takes many years and is associated with some aging processes involved in oxygen-dependent tissues such as brain, heart, muscle, and kidney. Auto-enhancing processes such as these are possible causes of degenerative diseases including Parkinson's, Alzheimer's, and coronary artery disease.[citation needed]

Because mitochondrial growth and fission are mediated by the nuclear DNA, mutations in nuclear DNA can have a wide array of effects on mtDNA replication. Despite the fact that the loci for some of these mutations have been found on human chromosomes, specific genes and proteins involved have not yet been isolated. Mitochondria need a certain protein to undergo fission. If this protein (generated by the nucleus) is not present, the mitochondria grow but they do not divide. This leads to giant, inefficient mitochondria. Mistakes in chromosomal genes or their products can also affect mitochondrial replication more directly by inhibiting mitochondrial polymerase and can even cause mutations in the mtDNA directly and indirectly. Indirect mutations are most often caused by radicals created by defective proteins made from nuclear DNA.[citation needed]

In total, the mitochondrion hosts about 3000 different types of proteins, but only about 13 of them are coded on the mitochondrial DNA. Most of the 3000 types of proteins are involved in a variety of processes other than ATP production, such as porphyrin synthesis. Only about 3% of them code for ATP production proteins. This means most of the genetic information coding for the protein makeup of mitochondria is in chromosomal DNA and is involved in processes other than ATP synthesis. This increases the chances that a mutation that will affect a mitochondrion will occur in chromosomal DNA, which is inherited in a Mendelian pattern. Another result is that a chromosomal mutation will affect a specific tissue due to its specific needs, whether those may be high energy requirements or a need for the catabolism or anabolism of a specific neurotransmitter or nucleic acid. Because several copies of the mitochondrial genome are carried by each mitochondrion (2-10 in humans), mitochondrial mutations can be inherited maternally by mtDNA mutations which are present in mitochondria inside the oocyte before fertilization, or (as stated above) through mutations in the chromosomes.[citation needed]

Mitochondrial diseases range in severity from asymptomatic to fatal, and are most commonly due to inherited rather than acquired mutations of mitochondrial DNA. A given mitochondrial mutation can cause various diseases depending on the severity of the problem in the mitochondria and the tissue the affected mitochondria are in. Conversely, several different mutations may present themselves as the same disease. This almost patient-specific characterization of mitochondrial diseases (see Personalized medicine) makes them very hard to accurately recognize, diagnose and trace. Some diseases are observable at or even before birth (many causing death) while others do not show themselves until late adulthood (late-onset disorders). This is because the number of mutant versus wildtype mitochondria varies between cells and tissues, and is continuously changing. Because cells have multiple mitochondria, different mitochondria in the same cell can have different variations of the mtDNA. This condition is referred to as heteroplasmy. When a certain tissue reaches a certain ratio of mutant versus wildtype mitochondria, a disease will present itself. The ratio varies from person to person and tissue to tissue (depending on its specific energy, oxygen, and metabolism requirements, and the effects of the specific mutation). Mitochondrial diseases are very numerous and different. Apart from diseases caused by abnormalities in mitochondrial DNA, many diseases are suspected to be associated in part by mitochondrial dysfunctions, such as diabetes mellitus, forms of cancer and cardiovascular disease, lactic acidosis, specific forms of myopathy, osteoporosis, Alzheimer's disease, Parkinsons's disease, stroke, male infertility and which are also believed to play a role in the aging process.[citation needed]

Human mtDNA can also be used to help identify individuals.[7] Forensic laboratories occasionally use mtDNA comparison to identify human remains, and especially to identify older unidentified skeletal remains. Although unlike nuclear DNA, mtDNA is not specific to one individual, it can be used in combination with other evidence (anthropological evidence, circumstantial evidence, and the like) to establish identification. mtDNA is also used to exclude possible matches between missing persons and unidentified remains.[8] Many researchers believe that mtDNA is better suited to identification of older skeletal remains than nuclear DNA because the greater number of copies of mtDNA per cell increases the chance of obtaining a useful sample, and because a match with a living relative is possible even if numerous maternal generations separate the two. American outlaw Jesse James's remains were identified using a comparison between mtDNA extracted from his remains and the mtDNA of the son of the female-line great-granddaughter of his sister.[9] Similarly, the remains of Alexandra Feodorovna (Alix of Hesse), last Empress of Russia, and her children were identified by comparison of their mitochondrial DNA with that of Prince Philip, Duke of Edinburgh, whose maternal grandmother was Alexandra's sister Victoria of Hesse.[10] Similarly to identify Emperor Nicholas II remains his mitochondrial DNA was compared with that of James Carnegie, 3rd Duke of Fife, whose maternal great-grandmother Alexandra of Denmark (Queen Alexandra) was sister of Nicholas II mother Dagmar of Denmark (Empress Maria Feodorovna).[11]

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Three courts in Britain agreed with the hospital, as did the European Court of Human Rights, which last week rejected a last-ditch appeal by Charlies parents.

But Pope Francis and Mr. Trump have also weighed in, adding another dimension to an extraordinarily thorny bioethical and legal dispute that pits Britains medical and judicial establishment against the wishes of the childs parents.

Judges in the case have acknowledged that the case highlights differences in law and medicine and an American willingness to try anything, however unlikely the possibility of success but have held that prolonging the infants life would be inhumane and unreasonable. The case echoes the one of Terri Schiavo, a Florida woman who was left in a persistent vegetative state after a cardiac arrest and was also the subject of a court battle.

A Vatican spokesman, Greg Burke, told Vatican Radio on Sunday that the pope had been following the parents case with affection and sadness, praying that their desire to accompany and care for their own child to the end is not ignored.

Italys top pediatric hospital, which is run by the Vatican, told the Italian news agency ANSA on Monday that it would be willing to take Charlie.

We understand that the situation is desperate, said Mariella Enoc, director of the Bambino Ges hospital in Rome, noting that she had been in touch with British officials to signal a willingness to take the patient, the agency reported. We are close to the parents in prayer and, if this is their desire, we are open to receiving their child at our structure for the time it will take for him to live.

Mr. Trump, who was not known to have previously expressed a view on the matter, wrote on Twitter on Monday that if the United States could help, we would be delighted to do so.

Both the pope and the president stopped short of criticizing the court rulings or the hospital. Helen Aguirre Ferr, the director of the White House office of media affairs, said Mr. Trump had decided to speak out after he learned about this heartbreaking situation. Mr. Trump has not spoken with the family, she said, and does not want to pressure them in any way.

The president is just trying to be helpful if at all possible, she added.

Charlie was born on Aug. 4 with encephalomyopathic mitochondrial DNA depletion syndrome. He is thought to be one of only 16 children globally with the condition, the result of a genetic mutation.

Brendan Lee, the chairman of the department of molecular and human genetics at Baylor College of Medicine, who is not involved the case, said in a phone interview that mitochondrial depletion syndrome has no cure. Treatments involve different types of vitamin supplementation, but none have been shown to definitively work through studies, he said.

Charlies parents, Connie Yates and Chris Gard, both in their 30s, have been waging a long and wrenching legal battle to keep him alive. They have raised more than 1.3 million pounds, or about $1.7 million, to help finance experimental treatment in the United States. There is also an international campaign, with an online petition, and there have been street protests in front of Buckingham Palace.

Charlie has been treated since October at Great Ormond Street Hospital, where doctors eventually decided that withdrawing life support was the only justifiable option. Although Charlies parents have parental responsibility, overriding control is by law vested in the court exercising its independent and objective judgment in the childs best interests, the hospital said in a statement laying out its position.

Siding with the hospital were the High Court, on April 11; the Court of Appeal, on May 25; and the Supreme Court of the United Kingdom, on June 8.

The High Court ruled that Charlie would face significant harm if his suffering were to be prolonged without any realistic prospect of improvement. Moreover, it said the experimental treatment, known as nucleoside therapy, would not be effective.

Money is not at issue; an academic medical center in the United States has offered to provide the experimental treatment. But a neurologist at the hospital, who has offered to oversee the treatment, told the court by telephone: I can understand the opinion that he is so severely affected by encephalopathy that any attempt at therapy would be futile. I agree that it is very unlikely that he will improve with that therapy.

Neither the hospital nor the neurologist was identified in court documents, and the White House has declined to identify either.

The Court of Human Rights ruled last week that the British courts had acted appropriately in concluding that it was most likely Charlie was being exposed to continued pain, suffering and distress, and that undergoing experimental treatment with no prospects of success would offer no benefit, and continue to cause him significant harm.

The case has drawn attention to important differences in legal systems.

Claire Fenton-Glynn, a legal scholar at the University of Cambridge who studies childrens rights, said that under British law, the courts were the final arbiter in medical disputes about the treatment of children.

She noted a 2001 case of conjoined twins, Jodie and Mary, who were born sharing an aorta. Separating the twins would lead to the death of the weaker twin; if they were not separated, both would die. A court ruled that the twins should be separated against the wishes of their parents; as expected, one died.

Courts in the United States are less inclined to get involved when there are disputes between parents and doctors, said Professor Moreno of the University of Pennsylvania, stressing that it was usually left to doctors, in consultation with parents, to decide on a childs treatment.

He noted the case of Baby Jane Doe, who was born in 1983 with spina bifida and whose parents declined to approve surgery to prolong her life. That case led to a law, signed by President Ronald Reagan, that defined instances in which withholding medical treatment from infants could be considered child abuse, but also provided that in certain cases doctors and parents might choose to withhold treatment from seriously handicapped babies when such action would merely prolong dying.

G. Kevin Donovan, the director of the Pellegrino Center for Clinical Bioethics at Georgetown University Medical Center and a professor of pediatrics, said that in the United States, if parents insisted on continuing life-prolonging treatment against a doctors advice, the child would simply be transferred to another institution willing to comply with the parents wishes.

It doesnt seem to be a supportable position morally or ethically, he said of the stance taken by the hospital in London, adding that what is legal and what is ethical are not always the same.

In the Schiavo case, her husband, who was her legal guardian, wanted to have her feeding tube removed, but her parents disagreed, setting off a seven-year fight that ended in 2005, after courts ruled in the husbands favor. Life support was removed from Ms. Schiavo, who died at 41.

In that case, too, the pope, then John Paul II, and the president, George W. Bush, weighed in. Mr. Bush signed an act of Congress allowing federal courts to intercede in the case. But their interventions did not ultimately affect the outcome.

There was no immediate response to Mr. Trumps statement from Charlies parents, who last week appeared to accept the finality of the courts rulings. Photographs of the couple sleeping with their sick child have circulated on social media recently.

We are really grateful for all the support from the public at this extremely difficult time, Ms. Yates said on Friday. Were making precious memories that we can treasure forever with very heavy hearts. Please respect our privacy while we prepare to say the final goodbye to our son Charlie.

There was also no immediate reaction from the hospital.

In Charlies case we have been discussing for many months how the withdrawal of treatment may work, the hospital said. There would be no rush for any action to be taken immediately. It added that it would consult the family and that discussions and planning in these situations usually take some days.

Follow Dan Bilefsky @DanBilefsky and Sewell Chan @sewellchan on Twitter.

Reporting was contributed by Aneri Pattani and Roni Caryn Rabin from New York, Michael D. Shear from Washington, and Elisabetta Povoledo from Rome.

A version of this article appears in print on July 4, 2017, on Page A1 of the New York edition with the headline: Dispute Over British Babys Fate Draws In President and Pope.

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Dispute Over British Baby's Fate Draws In Pope and US President - New York Times

When the first humans left Africa around 100,000 years ago, they got shorter.

The evolutionary shift helped them cope with the colder conditionsa more compact body size helped protect them from frostbite, whileand shorter limbs would be less breakable when they fellbut it also appears to have come with a downside: arthritis.

In a study published in Nature Genetics on Monday, scientists at Stanford University, California, have shown how variants within the GDF5 gene, which are related to reduced growth, was repeatedly favored by our ancestors as they migrated out of Africa and across the continents.

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But GDF5 has also been linked with osteoarthritis,a degenerative joint disease that affects an estimated 27 million Americans. Risk increases with ageit is sometimes referred to as wear and tear arthritisbut it also has a strong genetic component.

Previous research has shown how mutations in part of the GDF5 gene cause malformation in bone structure in mice. In humans, it has been associated with a shortness and joint problems, and two changes in particular are linked with a heightened risk of osteoarthritis.

In the latest research, the scientists find GDF5 provided an evolutionary boost for our ancestors, with arthritis apparently a byproduct of it."The gene we are studying shows strong signatures of positive selection in many human populations," senior author David Kingsley said in a statement

"It's possible that climbing around in cold environments was enough of a risk factor to select for a protective variant even if it brought along an increase likelihood of an age-related disease like arthritis, which typically doesn't develop until late in life."

A display of a series of skeltons showing the evolution of humans at the Peabody Museum, New Haven, Connecticut, circa 1935. Study finds humans became shorter when they first left Africa 100,000 years ago. Hulton Archive/Getty Images

To better understand GDF5, the team studied the DNA sequences that might affect how the gene is expressedspecifically those that are known as promoters and enhancers. From this they found a previously unidentified region they called GROW1.

When they looked for GROW1 in the 1,000 Genomes Project databasea huge database of genetic sequences of human populations around the worldthe team found a single change that is very common in European and Asian populations, but is hardly ever seen in Africans. The team then introduced this change to mice and found it led to reduced activity in the growth of bones.

They then looked at the change to the genetic variant over the course of human evolution, and found it had been repeatedly favored after Homo sapiens left Africa between 50,000 and 100,000 years ago. The team says the benefits of being shorter in colder conditions probably outweighed the risk of developing osteoarthritis in later life.

Because evolutionary fitness requires successful reproduction, alleles that confer benefits at young or reproductive ages may be positively selected in populations, even if they have some deleterious consequences in post-reproductive ages, they wrote.

Researchers believe this change could help explain why osteoarthritis is rarely seen in Africa, but is more common in other populations.Concluding, Kingsley said: "Because it's been positively selected, this gene variant is present in billions of people. So even though it only increases each person's risk by less than twofold, it's likely responsible for millions of cases of arthritis around the globe.

"This study highlights the intersection between evolution and medicine in really interesting ways, and could help researchers learn more about the molecular causes of arthritis."

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Human Evolution: Africa Exodus Made Homo Sapiens Shorter and Gave Them Arthritis - Newsweek

Like many others, Ive been rewatching the Game of Thronestelevision series in preparation for the start of the seventh season later this month. So I dont think its all that odd that an image of Jon Snows first trip to the jaw-dropping Wall of ice (which rises 700 feet high) in the frozen north of Westeros popped up in my head as I began research for my latest release about human evolution, migration and genetic selection.

You see, like Snow, our early human ancestors moved north out of Africa into the much colder climates of Europe and Asiatens of thousands of years ago. And as their surroundings and weather changed, they adapted to these changing conditions by passing on genes that would enhance their descendants chances of survival. Paradoxically, however, this fancy genetic footwork seems to have favored a DNA sequence that not only reduces human height, but also increases the risk of osteoarthritis. It seems somewhat contrary to the survival of the fittest mantra that we all learned in high school.

The researchers, Stanford developmental biologist David Kingsley, PhD, and Harvard human evolutionary biologist Terence Capellini, PhD,Harvard graduate studentJiaxue Cao, and former Stanford postdoctoral scholarHao Chen, PhD, published their findings today in Nature Genetics.

From our release:

Now, researchers at the Stanford University School of Medicine and at Harvard University have shown that, despite its association with the painful joint disease, this genetic variant has been repeatedly favored as early humans migrated out of Africa and into colder northern climates. At least half of Europeans and Asians harbor the gene variant, which is relatively rare in African populations. []

A more compact body structure due to shorter bones could have helped our ancestors better withstand frostbite and reduce the risk of bone fracture from falling, the researchers speculate. These advantages in dealing with chilly temperatures and icy surfaces may have outweighed the threat of osteoarthritis, which usually occurs after prime reproductive age.

It wasnt just our early human ancestors who hit upon this solution, the researchers found. Our even more ancient cousins, the Neanderthals and the Denisovans, also singled out this same gene variant (through a process known in genetic circles as positive selection) when they left Africa about 600,000 years ago. Its evolutionary popularity means it is now present in billions of people.

As Kingsley explained:

The potential medical impact of the finding is very interesting because so many people are affected. This is an incredibly prevalent, and ancient, variant. Many people think of osteoarthritis as a kind of wear-and-tear disease, but theres clearly a genetic component at work here as well. Now weve shown that positive evolutionary selection has given rise to one of the most common height variants and arthritis risk factors known in human populations.

Previously: From whence the big toe? Stanford researchers investigate the genetics of upright walking, Its a blond thing: Stanford researchers suss out the molecular basis of hair colorand Comprehensive review of humans expansion out of Africa could lead to medical advances Photo by Jeff S. PhotoArt at HDCanvas.ca

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Genetic variant linked to osteoarthritis favored in cold climates - Scope (blog)

When Daniel Benjamin was just beginning his PhD program in economics in 2001, he attended a conference with his graduate school advisers. They took in a presentation on neuroeconomics, a nascent field dealing with how the human brain goes about making decisions.

Afterward, as they took a stroll outside, they couldnt stop talking about what they had learned, how novel and intriguing it was. What would be next, they wondered. What would come after neuroeconomics?

The human genome project had just been completed, and we decided that even more fundamental than the brain would be genes, and that someday this was going to matter a lot for social science, said Benjamin, associate professor (research) of economics at the USC Dornsife College of Letters, Arts and Sciences Center for Economic and Social Research (CESR). Indeed, his excitement that day was the foundation of a visionary academic path.

Fast forward to today. Genoeconomics is now an emerging area of social science that incorporates genetic data into the work that economists do. Its based on the idea that a persons particular combination of genes is related to economic behavior and life outcomes such as educational attainment, fertility, obesity and subjective well-being.

Theres this rich new source of data that has only become available recently, said Benjamin, also co-director of the Social Science Genetic Association Consortium, which brings about cooperation among medical researchers, geneticists and social scientists.

Collecting genetic data and creating the large data sets used by economists and other social scientists have become increasingly affordable, and new analytical methods are getting more and more powerful as these data sets continue to grow. The big challenge, he said, is figuring out how scientists can leverage this new data to address a host of important policy questions.

Were ultimately interested in understanding how genes and environments interact to produce the kinds of outcomes people have in their lives, and then what kinds of policies can help people do better. That is really what economics is about and were trying to use genetics to do even better economics.

Only a handful of economists are working with genetics, but this brand of research is perfectly at home at CESR. The center, founded three years ago, was conceived as a place where visionary social science could thrive and where research could be done differently than in the past.

Being in a place where thats the shared vision is pretty rare, said econometrician Arie Kapteyn, professor (research) of economics and CESR director. Theres no restriction on which way you want to go or what you want to do. It doesnt mean that there are no restrictions on resources, but its the opportunity to think about your vision of whats really exciting in social science research. Then being able to actually implement it is absolutely fantastic.

The mission of CESR is discovering how people around the world live, think, interact, age and make important decisions. The centers researchers are dedicated to innovation and combining their analysis to deepen the understanding of human behavior in a variety of economic and social contexts.

What we try to do is mold a disciplinary science in a very broad sense, Kapteyn said. Because todays problems in society, theyre really all multidisciplinary.

Case in point: Benjamins work combining genetics and economics.

The flagship research effort for Benjamins CESR research group deals with genes and education. In a 2016 study, the team identified variants in 74 genes that are associated with educational attainment. In other words, people who carry more of these variants, on average, complete more years of formal schooling.

Benjamin hopes to use this data in a holistic way to create a predictive tool.

Were also creating methods for combining the information in a persons entire genome into a single variable that can be used to partially predict how much education a persons going to get.

Daniel Benjamin

Rather than just identifying specific genes, he said, were also creating methods for combining the information in a persons entire genome into a single variable that can be used to partially predict how much education a persons going to get.

The young field of genoeconomics is still somewhat controversial, and Benjamin is careful to point out that individual genes dont determine behavior or outcome.

The effect of any individual gene on behavior is extremely small, Benjamin explained, but the effects of all the genes combined on almost any behavior were interested in is much more substantial. Its the combined information of many genes that has predictive power, and that can be most useful for social scientists.

While the cohort of researchers actively using the available genome-wide data in this way is still somewhat limited, Benjamin says it is growing quickly.

I think across the social sciences, researchers are seeing the potential for the data, and people are starting to use it in their work and getting excited about it, but right now its still a small band of us trying to lay the foundations.

Were putting together huge data sets of hundreds of thousands of people approaching a million people in our ongoing work on educational attainment because you need those really big sample sizes to accurately detect the genetic influences.

As CESR works to improve social welfare by informing and influencing decision-making in the public and private sectors, big data such as Benjamins is a growing part of that process, according to Kapteyn.

What big data reflects is the fact that nowadays there are so many other ways in which we can learn about behavior, he said. As a result, I think well see many more breakthroughs and gain a much better understanding of whats going on in the world and in social science than in the past.

I think were really at the beginning of something pretty spectacular. What we are doing is really only scratching the surface theres so much more that can be done.

More stories about: Big Data, Economics, Research

Report comes as the university nears the opening of USC Village, the largest economic development project in the history of South Los Angeles.

The USC Dornsife Economics Department launches the USC Economics Review to spotlight students research.

The program at USC Dornsife offers tailored training in preparation for Fall Career Fair.

Conference covers methods of prompting change in human behavior for the public good.

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Can genetics play a role in education and well-being? - USC News

A 21-month-old girl in North Carolina is turning heads thanks to her unusual hair.

Phoebe Brasswell, of Smithfield, was born with a rare genetic condition that makes her locks always look as if theyve just been hit with static electricity.

The condition, uncombable hair syndrome, causes her hair follicles to be kidney-shaped instead of round. It also affects the hairs protein, which gives it shape, according to Inside Edition.

As a result, Phoebes hair is fine, coarse, constantly tangled and constantly staticky, according to SWNS.com.

SWNScom

Phoebe is one of only around 100 children worldwide with the condition, according toProfessor Regina Betz, who researches UHS at the Institute for Human Genetics at the University of Bonn, Germany.

Betz told SWNS, There may be many more which have not been reported.

Phoebes mom, Jamie, said no haircare products seem to work on her daughters hair, but she loves it anyway.

Every morning it is sticking straight up and throughout the day, she told SWNS.com. I try and spray stuff in it to keep it down, but within 30 minutes its spiky again.

Jamie Brasswell has nicknamed her little girl, Poppy, after a character in the movie Trolls, according to Inside Edition.

SWNS

Still, people unfamiliar with the condition arent shy about making suggestions to Phoebes mom when they are in public.

We were in the grocery store once and a lady said, She is going to hate you when she looks at her baby photos because you let her go out in public like that, Jamie told SWNS.com.People say, You should brush it better. Why dont you put it in a ponytail? But that hurts her.

Jamie has tried to minimize those comments by having Phoebe wear a headband when out in public.

SWNS

Although Phoebes hair sticks out in a crowd and pretty much everywhere else doctors expect it will become more manageable when she reaches puberty.

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Toddler's Hair Stands Up Like Troll Doll Thanks To Rare Genetic Condition - HuffPost