AP Biology class blog for discussing current research in Biology

Tag: DNA (Page 1 of 3)

Preferential Gene Expression: Not As Random As We Thought

Our conventional knowledge of genetics dictates that the activation of genes in our DNA is random. It is equally likely that our body will express our mother’s alleles as it is that our body will express our father’s. In the case that one parent donates a defective copy, it will be silenced; the other parent’s healthy set of DNA takes precedence and becomes activated.

However, a new study indicates that gene expression and activation is not as random as we thought. In certain regions of the body, our genes demonstrate preferential expression.

A team of scientists at the University of Utah found that almost 85 percent of genes in juvenile mice brains displayed preferential treatment. The mice brains activated one parent’s set of DNA over the other’s. This phenomenon was observed in other areas of the body, as well as in primates.

Although the preferential expression came to a close within ten days, it could provide explanations for vulnerability to brain diseases such as schizophrenia, ADD, and Huntington’s. The temporary preferential treatment to one parent’s copy of DNA could trigger a host of problems specific to that cell site that lead to such disorders, if the parent had given a defective copy of genes.

The study has the potential to alter our basic understandings of genetics, and how we are more prone to certain specialized diseases.

Image: (Public Domain,

A Second Theory: Is the RNA World Hypothesis Wrong?


Prior to recent research, scientists strongly supported the “RNA world” hypothesis, a theory that claims that DNA derived from RNA, and that RNA therefore provided the basis for life as we know it. The evidence of this new study under scientists at The Scripps Research Institute leads to an alternate theory that challenges this previous mode of thinking. This study is intriguing not only because it challenges what has mostly been accepted as factual truth by most scientists, but also because it attempts to solve the question of where and how first life developed.

Background: The “RNA world” hypothesis

The “RNA world” hypothesis dates back to over 30 years ago. Proposed independently by Carl Woese, Francis Crick, and Leslie Orgel, it essentially is a theory that states that RNA existed before modern cells, and stored genetic information and catalyzed chemical reactions within earlier cells. This theory further claims that DNA came later and only then contained the genetic material. It also infers that proteins served as a catalyst much later, only fulfilling this role once RNA evolved. The evidence that supports this theory lies with the chemical differences that distinguish RNA from DNA. RNA can be formed from formaldehyde (HCHO) which is chemically simple, especially in comparison to the much more complicated sugar deoxyribose. In a reaction catalyzed by a specific enzyme, deoxyribose is produced from ribose which also indicates the possibility that DNA comes directly after the structurally more simple and single helix RNA.

Recent Studies

Researchers believe that if this theory is correct, RNA nucleotides and DNA backbones would have mixed to create “heterogeneous” (or a product resulting from differing “parents” with unique charateristics) strands. The resulting “chimeras” (an organism composed of cells from different zygotes leading to subtle variations in form) would be an intermediate step in the transition to RNA if stable, however the study shows a decrease in stability (specifically in thermal stability or the ability to function at high temperatures) when the backbone is shared between the two nucleic acids. The researchers attribute this instability to a slight difference between the sugar in RNA and the sugar in DNA. As a result, if the RNA theory had been true, the chimeras would have died off. This proves that evolution has lead to a system where enzymes have developed to maintain the system of “homogenous” molecules, keeping RNA and DNA separate since they function much better separate from one another. Since these enzymes are fairly “new” in terms of the span of the existence of DNA and RNA, it is highly unlikely that RNA was able to transition to newly developed DNA. Without any mechanisms to keep DNA and RNA separate, it is logical to conclude that RNA does not predicate DNA. This concept is reminiscent of the endosymbiont theory that discusses the possible reason for the unique qualities of mitochondria and chloroplasts in that both theories rely on existing knowledge about these unique structures and how each component might contribute to a different function. Similar to the endosymbiont theory, there is no exact answer as to whether this theory is correct, however through challenging the theory and conducting experiments, we can further develop our understanding of certain biological phenomena.


This alternate theory, on the other hand, proposes a different view that RNA and DNA have coexisted and that one therefore did not develop from the other. While this theory is not completely new, these recent findings regarding instability for a backbone shared between the two nucleic acids provide more evidence for this secondary theory (to the RNA world theory). If this theory is accurate, DNA could have developed its homogenous system much earlier than scientists have predicted up until this point. According to this second theory, after RNA first interacted with DNA it still could have evolved to create DNA. Although scientists will never be able to discover life’s exact origin, these findings can provide insights for biology overall.


Is There a Limit to How Old Humans Will Get?

In the 1900s, the life expectancy for humans in the United States was approximately 50 years. Since then, the age to which humans can live has only grown. In 1997, a woman by the name of Jeanne Calment died at the age of 122- an astounding increase from the life expectancy less than a hundred years ago. A new study written about in the New York Times explains that Dr. Vijg, an expert on aging at the Albert Einstein College of Medicine, feels that we have now reached our “ceiling. From now on, this is it: Humans will never get older than 115.” Dr. Vijg and his graduate students published their pessimistic study in the journal Nature, presenting the evidence for their claim.

For their study, Dr. Vijg and his colleagues looked at how many people of varying ages were alive in a given year. Then they compared the figures from year to year, in order to calculate how fast the population grew at each age. For a while, it looked as though the fastest-growing group was constantly becoming older; “By the 1990s, the fastest growing group of Frenchwomen was the 102-year-olds. If that trend had continued, the fastest-growing group today might well be the 110-year-olds.” (NY Times Article). Instead, the increases slowed and eventually stopped, leading Dr. Vijg and his colleagues to conclude that humans have finally hit an upper limit to their longevity. Further research into the International Database of Longevity seemed to validate their findings; No one, except in rare cases like Ms. Calment, had lived beyond the age of 115. It appears as though human beings have hit the ceiling of longevity.

There was a varied mix of responses to the study. Some, like Leonard P. Guarente, a biology professor at MIT, praised it, saying “it confirms an intuition he has developed over decades of research on aging.” Others, like James W. Vaupel, the director of the Max-Planck Odense Center on the Biodemography of Aging, called the new study a travesty and said, “It is disheartening how many times the same mistake can be made in science and published in respectable journals.”

This study is by no means conclusive. It is simply one more piece of research in the ongoing debate over whether human beings will continue to live longer, and will continue to be debated by many experts in the field.

However, one must wonder whether living longer should be the goal. After all, as Dr. Vijg pointed out, “aging is the accumulation of damage to DNA and other molecules. Our bodies can slow the process by repairing some of this damage. But in the end, it’s too much to fix. At some point, everything goes wrong, and you collapse.” While morbid, he makes a valid observation: Humans can only go so long until necessary bodily functions begin to break down. Rather than worrying about whether we will live to an extraordinary age such as Ms. Calment, I concur with Dr. Vijg; the focus should be on living the most amount of healthy years and taking care of our bodies. While it may seem like a great idea to live to the age of 125, what good would that do if you aren’t able to continue with the activities you enjoy because your body is breaking down?


Other Relevant Articles:

In Depth Explanation of Longevity:

A brief summary of Dr. Vijg’s findings (a bit shorter than the NY Times article):

An interesting article about an entrepreneur’s quest to make people live even longer:


More CRISPR Improvements

Crispr-Cas9 is a genome editing tool that is creating a whole lot of buzz in the science world. It is the newest faster, cheaper and more accurate way of editing DNA.  Crispr- Cas9 also has a wide range of potential applications. It is a unique technology that enables geneticists and medical researchers to edit parts of the genome by cutting out, replacing or adding parts to the DNA sequence.  The CRISPR-Cas9 system consists of two key molecules that introduce a mutation into the DNA. The first Molecule is an enzyme called Cas9. Cas9 acts as a pair of scissors that can cut the two strands of DNA at a specific location in the genome so that bits of DNA can be added or removed.  The second is a piece of RNA called guide RNA or gRNA. This consists of a small piece of pre-designed RNA sequence located within a longer RNA scaffold. The scaffold part binds to DNA and the pre-designed sequence guides Cas9 to the right part of the genome. This makes sure that the Cas9 enzyme cuts at the right point in the genome.Screen Shot 2016-04-10 at 4.50.55 PM

CRISPR-Cas9 is efficient compared to previous gene-editing techniques, but there’s still plenty of room for improvement. CRISPR is less efficient when employing the cellular process of homology-directed DNA repair, or HDR, as opposed to nonhomologous end joining.  Jacob Corn, the scientific director of the Innovative Genomics Initiative at the University of California, Berkeley, and his colleagues have come up with a way to improve the success rate of homology-directed repair following CRISPR-Cas9. “We have found that Cas9-mediated HDR frequencies can be increased by rationally designing the orientation, polarity and length of the donor ssDNA to match the properties of the Cas9-DNA complex,” the researchers wrote in their paper, “We also found that these donor designs, when paired with tiled catalytically inactive dCas9 molecules, can stimulate HDR to approximately 1%, almost 50-fold greater than donor alone.”

“Our data indicate that Cas9 breaks could be different at a molecular level from breaks generated by other targeted nucleases, such as TALENS and zinc-finger nucleases, which suggests that strategies like the ones we are using can give you more efficient repair of Cas9 breaks,” coauthor Christopher Richardson, a postdoc in Corn’s lab, said in a statement.

Original Article:

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How CRISPR/Cas9 could one day prevent AIDS

CRISPR/Cas9 is a new gene editing tool that can target and modify DNA with great accuracy.  This new tool has many scientific uses, including treatment of many diseases.  Recently, several breakthroughs have been made in treating HIV with CRISPR Cas9.  However, a number of issues with the tool have come up at the same time.

To understand how CRISPR eliminates HIV, one must know how HIV replicates. HIV replicates by taking over a host cell and injecting its RNA into the cell.  This RNA becomes DNA and joins together with parts of the host cell’s DNA.  After entering the cells, the virus can lay dormant for several years, but will eventually start replicating and taking over other cells.  The standard form of treatment for HIV is an antiretroviral.  While antiretrovirals can be very effective at limiting the spread of the disease, it cannot fully remove it or stop it forever.

HIV virus

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The CRISPR Cas9 could potentially be used to inhibit the spread of HIV by editing the virus out of a cell’s DNA.  Researchers at The University of Massachusetts Medical School have been developing a technology to perform this impressive task.  While there have been several successful trials in preventing HIV from spreading, several trials have lead to increased resistance for the HIV.

“When we sequence the viral RNA of escaped HIV, the surprise is that the majority of the mutations that the virus has are nicely aligned at the site where Cas9 cleaves the DNA, which immediately indicates that these mutations, instead of resulting from the errors of viral reverse transcriptase, are rather introduced by the cellular non-homologous end joining machinery when repairing the broken DNA,” says Chen Liang, a senior investigator at the Lady Davis Institute at the Jewish General Hospital and the Associate Professor of Medicine at the McGill University AIDS Centre.

These mutations alter the strand of DNA, preventing the CRISPR Cas9 from recognizing it.  If the CRISPR Cas9 cannot recognize the virus, it cant remove the viral DNA, allowing the virus to create more copies of itself.  Despite these limitations, researchers like Liang are confident that they can succeed.


CRISPR/Cas9 Provides Promising Treatment for Duchenne Muscular Dystrophy

There are nine kinds of muscular dystrophy and of these, Duchenne MD is the most common severe form of childhood MD. It affects about 1 in 5000 newborn males, only in very rare cases has it affected females. DMD is a genetic disorder that causes progressive muscle degeneration and weakness. Patients usually die by age 30 to 40.

DMD is caused by the absence of a protein, dystrophin, that helps keep muscle cells intact. In 1986 it was discovered that there was a gene on the X chromosome that, when mutated, lead to DMD. Later, researchers discovered that the protein associated with this gene was dystrophin. From this information, we can tell that this disorder is sex-linked, which explains why women are mainly carriers.

No one has found an absolute cure for this genetic disorder until now. Even in recent years, people have discovered treatments that will make patients’ lives more bearable, but never reverse the disorder. As a result of these advances, mostly in cardiac and respiratory care, patients are able to live past teen year and as long as in to their fifties, though this is rare. Although there are still drugs being tested like Vamorolone (a “dissociative steroid,” is an anti-inflammatory compound), more treatments on the molecular level are now being considered. However, thanks to recent discoveries and research with the new genetic technology, CRISPR/ Cas9, scientists may have found a treatment for DMD.

This new approach to gene correction by genome editing has shown promise in studies recently. This particular correction can be achieved in a couple ways: one is by skipping exon 51 of the DMD gene using eterplirsen (a morpholino-based oligonucleotide). Studies over four years show prolonged movement abilities, and a change in the rate of decline compared to controls. The newest approach to gene correction using CRISPR/Cas9, which the article I’m writing about focuses on, was performed in this study as next described: the CRISPR/Cas9 system targets the point mutation in exon 23 of the mdx mouse that creates a premature stop codon and serves as a representative model of DMD. Multiple studies in three separate laboratories have provided a path and laid the groundwork for clinical translation addressing many of the critical questions that have been raised regarding this system. The labs also discovered by further demonstrations, that this is a feasible treatment for humans. Functional recovery was demonstrated in the mice, including grip strength, and improved force generation- all of which are very important and hopeful discoveries. It is estimated from these studies that this new method will pass clinical trials and go on to benefit as many as 80% of DMD sufferers. Even greater success rates are expected if this is performed in young and newborn DMD patients.

CRISPR-Cas9 Can Now Be Applied to Not Only DNA But RNA

Anyone who has seen the movie Gattaca knows that the plot is set in a futuristic society that is able to edit the human genome. Of course, there’s a reason that it’s set in the future. Scientists of today couldn’t possibly dream of being able to edit genes in our DNA…right?

Well, wrong. Say hello to CRISPR-Cas9. CRISPER-Cas9 is, in short, a highly effective and popular DNA-editing technique that scientists started to use to sequence and edit human genes.

However, thanks to scientists at University of California-San Diego, CRISPR-Cas9 is not only limited to editing DNA. By altering only a few key features, this mechanism can now also be used with RNA, another highly important and fundamental molecule in the human body. CRISPR-Cas9 as of now can be used to track RNA in its movement, such as its many essential roles in protein synthesis. Below is a picture that briefly shows the importance of mRNA and tRNA:


Screen Shot 2016-04-11 at 12.01.31 AM


It’s an exciting development in that certain diseases, such as cancer and autism, are linked to mutations in RNA. By using CRISPR-Cas9 to their advantage, scientists could study the movement of RNA in the cell—and how and when it gets there—to track any defective RNA that can potentially lead to such diseases and then hopefully develop treatments. Gene Yeo, PhD, an associate professor of cellular and molecular medicine at UC-San Diego, expresses hope that “future developments could enable researchers to measure other RNA features or advance therapeutic approaches to correct disease-causing RNA behaviors”.

Intrigued? Confused? Please leave any comments or questions below!


Original Article

How to Proofread the Genome

CRISPR-Cas9 is an emerging technology in the field of genetics that has opened an incredible number of  doors and revolutionized the field. It permanently changes the genome of cells while they are alive. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats. This sounds confusing but the actual technology is simple. Feng Zhang uses the analogy of proofreading a book to explain it.Let us say you are proofreading your novel and you find the phrase “twinkle twinkle big star”. Now you want to change it to “twinkle twinkle little star”. In this scenario, the words are base pairs and the change from “little” to “big” is a mutation. You can not just delete “big” or just “add” little you must do both. And that is what CRISPR does. It uses an enzyme to cut the DNA and silences that gene. It also can do the opposite and activate certain genes.

A diagram of how CRISPR works

This precise controls of genes have allow scientists to do research faster and cheaper. Its applications go beyond just research however. This technology can be used to treat certain genetic mutations by correcting the incorrect base pairs accurately.

Link to article:

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The New and Improved CRISPR-Cas9

The CRISPR-Cas9 genome editing system has transformed into an even better version of itself. A new, elegant technique, coined by researches at the Broad Institute of MIT and Harvard and the McGovern Institute for Brain Research at MIT, has resolved one of the most reoccurring technical issues in genome editing.

Primarily, the CRISPR-Cas9 system works to specifically modify a cell’s DNA. CRISPR is dependent on protein Cas9, as it is specialized for cutting DNA. The DNA, at a location identified by a RNA’s sequence matching the target site, is altered by Cas9. Though it very efficient at cutting its target sites, there is a large complication in the process. Once the Cas9 is inside the cell, it can also bind and cut additional sites that are not targeted. Because of this, undesired edits are produced which can alter gene expression or kill off a gene completely. These setbacks can lead to cancer or other problems. Feng Zhang, along with his colleagues at MIT, reported that by just changing 3 out of the approximately 1,400 amino acids composing the Cas9 enzyme from S. pyogenes, a considerable reduction of “off-target editing” to undetectable levels are observed.

This newfound information was derived from studying the structure of the Cas9 protein. Since DNA is negatively charged, it binds to a positively charged groove in the Cas9 protein. The scientists predicted that by replacing some of the positively charged amino acids with a neutral charge, there would be a decrease in binding to “off target” sequences than to “on target” sequences. By mutating three amino acids, their technique proved to be successful.

The team is calling this newly-engineered enzyme “enhanced S. pyogenes Cas9” or “eSpCas9.” It’ll be particularly useful for genome editing that requires precise specificity and it is said to be available for researches worldwide.

I believe that this newfound resolution for the CRISPR-Cas9 genome editing hurtle is a huge game changer. This charge-changing approach might also be able to be used for other experiments involving RNA-guided DNA targeting enzymes. Ethical and societal concerns have also risen due to the idea of rapid and efficient genome editing. The eSpCas9 is highly beneficial in the scientific community, however there is a lot more research needed to be done in order to be used clinically.


Original article can be found here.

Forget DNA, Let’s Talk RNA!


Photo of RNA (licensing information here)

The genetic code within DNA is responsible for determining who we are and what we are capable of. Because of this, scientists have been interested in cracking the genetic code and finding ways to alter it. There are many diseases linked to DNA, as well as RNA. However, scientists have not been as successful in targeting RNA in living cells as they have been in targeting DNA. Recently, using CRISPR-Cas9, researchers at University of California, San Diego School of Medicine have figured out how to do what has been troubling scientists.

Senior author Dr. Gene Yeo described how the researchers at UCSD have been tracking the movement of RNA throughout cells and plan to measure other RNA features and help to correct disease-causing RNA behaviors using CRISPR-Cas9. The location of RNA in a cell determines whether proteins are produced at the right time and in the right place. When defective RNA transport occurs, diseases ranging from autism to cancer can occur. In order to successfully treat these conditions, researchers must find a way to track and measure the movement of RNA. This process was first seen with DNA: scientists found they could use CRISPR-Cas9 to track and edit genes in mammalian systems. Now, however, Yeo and his colleagues at UC Berkeley have started to target RNA in live cells (RNA-targeted Cas9 or RCas9), as well as DNA in live cells.

When CRISPR-Cas9 is used for normal DNA-involved purposes, researchers design “guide” RNA to match the DNA sequence of the gene Cas9 is targeting. The “guide” RNA then directs the Cas9 enzyme to the target spot in the genome. The Cas9 enzyme then cuts the DNA, which causes the DNA to break in a manner that inactivates the gene. Researchers can also replace the section of the genome next to the cut DNA with a corrected version of the gene. In order to allow Cas9 to work for RNA as well as DNA, work originated by co-author Dr. Jennifer Doudna at UC Berkeley laid a base foundation for researchers to design the PAMmer: a short nucleic acid. The PAMmer works with the “guide” RNA to direct Cas9 to an RNA molecule, instead of DNA.

All in all, CRISPR-Cas9 is responsible for a revolution in genomics with it’s ability to target and modify human DNA. Although this breakthrough is crucial, scientists are now trying to use their lead to target and modify RNA. With an extension on already existing research, there is no doubt that scientists will soon be able to do more than just track RNA. So, let’s forget about DNA and shine a light on RNA for a little while!


Harmless Mosquitoes…Yes Please

What are the most annoying things on Earth? Why, mosquitoes of course. They bite you and their bites are extremely irritating. Mosquitoes also carry life-threatening viruses, such as Malaria. However, scientists have come up with a way to get rid of mosquitoes carrying Malaria with the help of gene drives.

A gene drive is a self-generating “cut-and-paste system” that can sterilize mosquitoes. Well how do gene drives work? They operate using CRISPR/Cas9, precision molecular scissors that cut DNA. Scientists used CRISPR/Cas9 to disrupt the genes that are active in mosquito ovaries. If a female mosquito is missing one of these genes, they become sterile. Gene drives insert themselves into a target gene to assimilate every unaltered gene they pass. They break normal inheritance rules by being able to pass themselves into over 50% of an altered animal’s offspring.


The first gene drive that was made stopped mosquitoes from transmitting Malaria. This new gene drive would eliminate Malaria-carrying mosquitoes in the future by making the females sterile, unable to reproduce. This gene drive is not 100% perfect yet, but scientists are hoping to perfect it soon to be able to release it. They hope that this gene drive will be able to control different insect populations, not only mosquitoes.

Source Article

“Selfish” DNA Defies Mendel’s Laws

R2D2 may be a heroic Star Wars character but in living animals it is a piece of DNA which violates laws of both genetic inheritance and Darwinian evolution. It has swept through mouse populations by mimicking helpful mutations when in fact it damages fertility. These new findings, described in this article by ScienceNews,  propose that even genes that are dangerous to an organism’s evolutionary chances can trick their way to the top. This is a warning for scientists looking for signs that natural selections has picked certain genes because they offer an evolutionary benefit. What looks like survival of the fittest may actually be a “cheater” prospering.


Image Link

Geneticist John Didion and colleagues examined DNA samples from wild mice from Europe and North America to determine how widespread R2d2 has become. The proportion of mice with the selfish gene more than tripled in one laboratory population from 18 percent to 62 percent within 13 generations. In another breeding population, R2d2 shot from being in 50 percent of the lab mice to 85 percent in 10 generations. By 15 generations, the selfish element reached “fixation” — all the mice in the population carried it. The rate of spread was much faster than researchers predicted—it was projected it would take 184 generations for the selfish DNA to spread to all of the mice.

R2d2 is a “selfish element,” a piece of DNA that causes itself to be inherited preferentially. It is a stretch of DNA on mouse chromosome 2 that contains multiple copies of the Cwc22 gene. When seven or more copies of that gene build up on the chromosome, R2d2 gets “selfish.” In female mice, it pushes aside the chromosome that doesn’t contain the selfish version of the gene and is preferentially placed into eggs. This violates Gregor Mendel’s laws of inheritance in which each gene or chromosome is supposed to have a fifty-fifty chance of being passed on to the next generation. But there is a cost to R2d2’s selfishness: Female mice that carry one copy of the selfish element have small litter sizes compared with mice that don’t carry the greedy DNA. The loss of fertility should cause natural selection to sift out out R2d2. But the selfish element’s greed is greater than the power of natural selection to combat it, as the lab experiments show.

But based on further lab experiments, researchers may have found that even this successful cheat can get caught. These other results revealed a relatively low proportion of wild mice carrying R2d2. Evolutionary geneticist, Matthew Dean says this could mean that some mice have developed ways to suppress the gene’s selfishness. There is still much more research to conduct on this topic.

Original Source

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New Research Sheds New Light on Cancer Preventing Proteins

Cells in the human body are constantly dividing. Whenever cells divide into two, the DNA within them must be copied as well. Most of the time this process works as planned, but some times the DNA can be copied incorrectly. Other factors such as UV rays and radiation can damage DNA and lead to problems like cancer. While these errors in DNA copying can cause significant mutations, they are usually corrected by certain proteins within the cell. New research at the University of Michigan is allowing scientists to get a better idea of how these proteins go about finding the damaged sites and repairing them.

Mutación ADN

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In this study, researchers at UM examined the MutS protein in bacteria. According to Lyle Simmons, associate professor of molecular, cellular, and developmental biology at UM, it has been known for a long time that the MutS protein could find and repair errors in DNA. “MutS is the first protein involved in DNA mismatch repair and is responsible for detecting rare errors that can predispose people to certain types of cancer, a hereditary condition called Lynch syndrome or cancer family syndrome. If a person’s mismatch repair system is hindered, the mutation rate increases 100-to-1,000 fold” says Simmons.  Despite knowing what these proteins do, it remained unclear as to how they perform these tasks.

To see how the protein works, researchers “fused the MutS protein to a fluorescent tag and activated fluorescence with a laser.” They then studied the protein’s actions inside of a bacterial cell. Tagging the proteins with fluorescence allowed researchers to track its movement through the cell. Scientists observed that MutS moved quickly through the nucleoid but slowed down at DNA replication sites. This indicates that the proteins look for sites of replication rather than individual mismatches. The protein then searched the new DNA being created for errors. Mismatches occur when the wrong nitrogenous bases are paired with each other. “The mismatched pair kinks the DNA at the replication fork where DNA is made. MutS positions itself at that fork so it’s ready to catch any mistakes. As an added bonus, this positioning likely tells MutS which side is correct and which side is the new, altered DNA.” says Julie Biteen, assistant professor of chemistry.

Despite the study being performed on bacteria, it is very likely that the same process occurs in human cells.  This discovery is very important because it provides information that will be essential to learning more about how the body responds to mutations.  Further advances in this area of study could possibly help researchers understand cancer better.

Original Article

Serious Monkey Business Going on with these Tanzanian Monkeys

A team from the University of Oregon comprised of Maria Jose Ruiz-Lopez, a postdoctoral researcher, and Nelson Ting, a corresponding author and professor of anthropology, have discovered why a specific species of endangered monkeys in Tanzania are living in various different geographical areas that are increasingly becoming isolated from one another. It has been concluded that this situation is due to the monkey’s closeness to villages and the intentional forest fires by humans in an effort to create space for crops. Lopez collected 170 fecal samples of the Udzungwa red colobus monkey, a specific monkey used as indicator species in ecological change, for DNA analysis over five distinct forests in the Eastern Afromontane Hotspot. To approach this experiment, the team used landscape-genetics, a method that merges landscape ecology and population genetics. Though odd to use in tropical settings, this technique allowed them to investigate the dissimilarities between 121 monkeys and how human activity influences ecological changes. The largest difference between monkeys were of those who were separated by villages and/or zones that had a history of the highest density fires. The researches studied multiple variables at once and the monkey’s proximity to villages and man-made fires was still the most significant. Because these fires are stopping the monkeys from migrating, smaller groups of them are becoming more isolated, resulting in a decrease of genetic diversity and yielding to extinction variables.

This experiment regarding behavioral ecology, a way in which organisms react to abiotic factors in their environment, made me contemplate the human’s role in the environment and how we are strongly affecting the possible extinction or conservation of animals. This particular ecosystem is rich in diversity and it would be a tragedy for it to fall to extinction! There is no direct solution to this problem; after all, to have the power to alter a human’s ecological footprint and their decision whether to burn a forest or not is quite hard to seize control of. Do you believe with enough awareness and education, local communities would be able to create a local solution to save the diverse genes of these monkeys?

Original article can be found here.

Epigenetics – Exercise Runs In The Family

It is common fact that people who exercise frequently are more likely to live a longer healthier life, but now new studies show that if a person exercises it can also result in a better life for his or her children and even grandchildren. Before the study of epigenetics people always thought the genome they are born with it the genome they are stuck with. However new science has shown exercise not only changes the outward appearance of our muscles and overall physical health, but also changes our DNA.

Exercise, astonishingly, can effect gene shape, function, and turn them on and off. Scientists now know that genes can actually be quieted or amplified through exercise because biochemical signals are sent out every time a person exercises. This is where epigenetics comes in. Epigenetics doesn’t simply change the gene all together, but instead works its magic on the outside of each gene through a process called methylation. A cluster of atoms surround the genes either denying or amplifying biochemical signals. Scientists believe that even one day of exercise can change methylation patterns.


One study done by scientists at the Karolinska Institute in Stockholm put the theory of exercise and epigenetic’s to the test. They studied 23 young and healthy men and women. They asked all the participants to work out half of their lower body for three months. This way each member of the study was his or her own control and experimental group. Obviously, after the three months each members leg that was worked out was stronger than the other, but what was much more intriguing was the results at the molecular level. The scientists found significant methylation changes in the cells of the leg that were worked out, averaging 5,000 sights on the genome where there was a new methylation pattern. Many of these methylation patterns were changed on enhancers, which are important for amplifying gene expression. The genes that were most affected were those that play a role in energy metabolism, insulin response, and inflammation within muscles. Exercise, along with many other healthy lifestyle tasks, has shown to cause changes in a persons epigenome. Changes that make a person healthier, but perhaps even more significantly, can make his or her children and grandchildren healthier.


Epigenetics and Dopamine Activity

Researchers at the University of California in Irvine have correlated erratic dopamine activity as an underlying cause of complex neuropsychiatric disorders, specifically because of the epigenetic alterations caused by low levels of dopamine. This study, overseen by Emiliana Borelli, a UCI professor of microbiology & molecular genetics, provides clues to the possible causes of complicated disorders like schizophrenia.

Dopamine is a neurotransmitter (and hormone) that fuels our daily life, acting as our prime motivator and pleasure inducer, while also being linked to memory, and cognitive function. Many addictive drugs increase the amounts of dopamine released to exhausting levels, eventually wearing out the neurotransmitters notwithstanding the negative effects of the drugs themselves. High dopamine levels can also be achieved via everyday pleasures like exercise or sex, which can also spur addiction.


Dopamine, therefore, has an irrefutable role in our everyday lives, and according to Borelli, “Genes previously linked to schizophrenia seem to be dependent on the controlled release of dopamine at specific locations in the brain. Interestingly, this study shows that altered dopamine levels can modify gene activity through epigenetic mechanisms despite the absence of genetic mutations of the DNA.”

In short, it is quite likely that Dopamine is an epigenetic hub of sorts, that can cause powerful changes in gene regulation when functioning in a disrupted or excessive manner. Borelli, knowing the consequences of excess dopamine release, tested the opposite effect on mice, hindering dopamine release by turning off mid brain dopamine receptors in rats, leading to mild dopamine synthesis. The results were profound, as Borelli found there to be decreased expression in approximately 2,000 genes in the prefrontal cortex. This epigenetic surge of decrease in genetic expression was reinforced by the increase in change of DNA proteins called histones, which are associated with reduced gene activity. The now mutated mice suffered from ranging psychotic behavior and episodes, and were then treated with dopamine activators for a duration of time before seeing their behavior normalize.

Borelli’s and others’ work will provide useful clues for understanding these complex neurological disorders, while serving to reinforce the newfound importance of comprehending gene regulation and expression. These studies seem to point to a new era in which it is not just your genetic make up that determines your future, but also the regulation of your genes.



Genetics and Mental Illness

Brain Lobes

Scientists have tirelessly searched through the genetic makeup of people with metal illnesses trying to find a common variation(s) that could account for conditions such as schizophrenia and bipolar disorder. However this has been inconclusive so researchers have turned to epigenetics, the study of how experience and environment effect the expression of certain genes. Epigenetic marks regulate when and how much protein is made with out actually altering the DNA itself. It is believed that these “marks” can affect behavior, and thus may interfere with metal health. This idea was tested in a study with rats.  Researchers proved that affectionate mothering alters the expression of genes, allowing them to dampen their physiological response to stress, which was then passed on to the next generation. This is thought to be similar in humans and these markers develop as an animal adapts to its environment.  Epigenetic research led scientists to prove that offspring of parents who experienced famine are at a higher risk for developing schizophrenia. Additionally, some people who have autism, epigenetic markers had silenced the gene which helps produce the hormone oxytocin which helps the brain’s social circuit. And therefore a brain that lacks this hormone would most likely struggle in social situations. Thomas Lehner of genomics research at the National Institute of Mental Health says that studies and research have shown that epigenetic modifications impact behavior and he also believes that these effects can be reversed. By studying genes at the “epi” level, researchers are hoping to find patterns that were hidden at the gene level.  Finding and targeting these patterns can lead to more effective treatment of and management of certain mental illnesses. There are many projects and studies at some of the most prestigious institutes, such as Tufts and Johns Hopkins, that are focused on the study of things at the epigenetic level.

Original Article

Further Information:

Epigenetic Markers and Heredity

Epigentetics and Autism 

Genetics and the Brain





The Gene Switch

Researchers at the Stowers Institute for Medical Research have created a high-resolution mechanism to “precisely and reliably map individual transcription factor binding sites in the genome.” This new technique, published in Nature Biology today, has proven to be more efficient and successful than those previously studied.

All of the cells in an organism carry DNA; however different cells in the body express different portions of it to function properly. For instance, nerve cells express genes that facilitate them carrying messages to other nerve cells. This process is known as gene expression and is responsible for making our bodies function the way we do. Despite our limited knowledge on gene expression, researchers are aware that it is is controlled by proteins called transcription factors that bind to specific sites around a gene and,  in the right order, allow the gene’s sequence to be read.

Transcription factor binding sites in DNA are extremely difficult to locate but, thanks to new technology, it is becoming easier to track their location. “The transcription factor binding sites that are likely functional leave behind clear footprints, indicating that transcription factors consistently land on very specific sequences. In contrast, questionable binding sites that were previously detected as bound showed a more scattered unspecific pattern that was no longer considered bound.”

These techniques are implemented through a method called chromatin immunoprecipitation or ChIP, a tool that determines the relativity of the proteins to their positions on the DNA, cuts the DNA into reasonable sizes, and then isolates the sections that are bound by the proteins. While the research is largely preliminary, scientist Zeitlinger attests to the significance of this creation; ”If we do this kind of analysis for lots of transcription factors, we will gather information needed to better understand gene expression.”


chIP mechanism

Epigenetic breakthrough: A first of its kind tool to study the histone code



Scientists at the University of North Carolina have recently made a breakthrough in the study of epigenetics, particularly enzyme modification of histones. Histones, the structures to which our DNA binds in the nucleus, play a pivotal role in gene expression. In other words, histone and enzyme interaction control which genes are expressed in which cells during certain times. Epigenetics is the study of how this process works. Tightening or loosening histones can turn a certain gene off or on. The study of this process has been difficult given the size of the genome and number of different histone-enzyme interactions dispersed through the sizable sequence of DNA. The Enzymes place specific chemical markers on the histones that cause the gene regulation to occur, but scientists have been unable to determine which enzymes affect what genes and how. However, the scientists at UNC have recently conducted a study with the fruit fly genome that has given them a large amount of data. The fruit fly genome contains all of its epigenetic markers in the same place. The scientists were able to insert synthesized gene regulating enzymes in place of the originals and determine the function of each individual enzyme by simply observing what was affected by the new enzymes. This research is crucial for the understanding of how the human genome is regulated, possibly leading to the cure for many illnesses.

Article Link:

Biggest Ever Epigenetics Project!!



Identical Twins


This article is about a project that has recently been planned out with respect to

epigenetics. It is the largest project to date and will cost around $30,000,000 to complete. Epigenetics is the study of cellular and psychological trait variations that are not caused by DNA sequence, but rather what within the DNA is triggered and shown. It is a relatively new field and has exploded in recent years. The heads of this project are TwinsUK and BGI, both very credited organizations in the realm of epigenetics. Epigenetics is the newest and recently the most popular field of all genetics and the goal of this project is to use the twins and the resources given to understand why and how epigenetics occurs.

The plan is to review the patterns of 20,000,000 sites in the DNA of each identical twin (they must be identical because their DNA must be the same and not vary) and compare the DNA with the other twins. The aim is to not look at similarities, but to look at differences and figure out how twins get different diseases if their DNA is identical. They will focus on obesity, diabetes, allergies, heart diseases, etc. at first. Until recently, science did not understand why twins could receive different diseases since their DNA is identical to their other twin, but by studying epigenetics and how genes can be triggered to do different things based on surroundings and circumstance, this idea is plausible.

Being able to locate what genes turn on to trigger certain diseases along with how to control this is something that will benefit not only our general knowledge but will also advance health care to levels that it has never seen. Experiments such as this have been done before but only with a handful of twins. The goal in this experiment is to increase the amount of twins tremendously in order to increase the accuracy of their data.

The Executive Director of BGI, Professor Jun Wang stated that the goal of this experiment is to “unlock many secrets about human genetics that we don’t currently understand, and to accelerate research and applications in human healthcare.”


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