Sentences with phrase «mutation of a single gene»

An article in New Scientist (12 May 2012) explored the fact that a double mutation of a single gene seems to have taken place about 2.5 million years ago, beginning the separation of homo from Australopithecus.

Not exact matches

Blakemore argues that a single gene mutation could in fact have been the cause of this increase - for in fact only one extra cell - division step would cause a doubling of brain size.

There is no single mutation that causes Alzheimer's, says Wild, but we know of several gene variations that increase the risk of the disease.

The disease results from a single mutation in the gene that codes for one of the protein chains that make up the hemoglobin molecule.

The paper was a landmark, demonstrating «that a single gene mutation in the mouse could extend life span,» says gerontologist Richard Miller of the University of Michigan Geriatrics Center in Ann Arbor.

In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotide.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.

The researchers determined that CRISPR had successfully corrected a gene that causes blindness, but Kellie Schaefer, a PhD student in the lab of Vinit Mahajan, MD, PhD, associate professor of ophthalmology at Stanford University, and co-author of the study, found that the genomes of two independent gene therapy recipients had sustained more than 1,500 single - nucleotide mutations and more than 100 larger deletions and insertions.

Rare mutations that shut down a single gene are linked to lower cholesterol levels and a 50 percent reduction in the risk of heart attack, according to new research from Washington University School of Medicine in St. Louis, the Broad Institute at Massachusetts Institute of Technology and Harvard, and other institutions.

Unlike other autoimmune disorders with associated risk factors, APECED is clearly caused by a mutation in a single gene, based on analyses of affected families.

«When most people think about cancer genetics, they think about single key mutations that foster tumor formation — very specific things like the BRCA genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores Cancer Center and lead author of the paper published February 15 in Nature Communications.

A mutation in the LRRK2 gene is the single most common inherited cause of Parkinson's disease.

Other single - gene mutations gave the flies an extra set of wings or removed its eyes or wings completely.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the gene — as in the family studied by Musunuru and colleagues — are much rarer.

The MGH investigators screened the genomes of 40 individuals with arhinia and 55 family members, from a total of 38 families, revealing rare single - nucleotide mutations within the SMCHD1 gene in 84 percent of affected individuals.

«This work demonstrates the feasibility of using a single gene editing platform, plus the regenerative power of stem cells to correct genetic mutations and restore dystrophin production for 60 percent of Duchenne patients,» said Pyle, associate professor of microbiology, immunology and molecular genetics and member of the Broad Stem Cell Research Center.

The team found that a mutation in a single pair of nucleotides in the gene causes seed coat permeability — that is, a change in one pair out of the approximately 1 billion base pairs that make up the soybean genome.

Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.

That pattern of inheritance would suggest the strong effect of a single gene mutation, and it would most likely crop up in families that had a lot of shared genes through the intermarriage of first cousins.

Rare, deadly, and caused by a single gene mutation, it was a perfect proof - of - principle condition for anyone seeking to replace damaged DNA with genes that did the job.

Results from a statistical analysis shows a cluster of SNPs — single nucleotide polymorphisms — in one section of a single gene, indicating the location of a mutation likely linked to autism.

With the data provided by the FLI researchers, scientists around the world may now set targeted mutations to investigate the relevance of single genes for aging, in order to better understand regulating mechanisms and, eventually, develop new approaches for therapy or prevention of aging - related diseases.

Fifty - four per cent were single gene mutations, and the other 13 per cent were polygenic DNA variants, meaning they were a combination of multiple bad genes inherited together.

But in genes, differences as small as a point mutation — the alteration of a single base pair — can lead to disease.

And the mutations that maybe two genes regulated differently — we gathered various sorts of hints that those mutations couldn't have happened with just a single gene.

After the gene was duplicated — now I just mention [ed] that duplication takes place all of the time, they are common sort of genetic accidents — but after the genes were duplicated, now there was the opportunity to divide the labor that was once stored by a single gene; now divide that labor into two genes, and what happened is, a series a mutations have taken place that has optimized each role — that the regulatory sensor role of GAL3 and the enzymatic - converting role of GAL1.

When a single gene exists in the ancestral mutation, that would have made for higher levels of enzyme expression, would have messed up with sensory function.

About 10 to 15 percent of people with autism have a disorder linked to a known single - gene mutation, such as fragile X syndrome, or chromosomal alterations.

Pea plants with a single nucleotide mutation in the gene produce a sluggish form of the enzyme and consequently grow short.

As a result, researchers have tended to focus on point variations, such as the mutation or deletion of a single DNA letter within a gene.

Hereditary predisposition to cancer is sometimes due to a single high - risk genetic change, like a mutation in the BRCA1 or BRCA2 genes for breast cancer, but most of the time, the disease is the result of multiple gene variants that add up, environmental risk factors, and a big element of chance.

«This methodology is very important because it allows you to very quickly integrate almost any piece of DNA in these vectors,» remarks Bellen, who says this technology also allows scientists to put single point mutations in a gene and then reinsert the gene into a genome as well as tagging a segment of DNA with fluorescent markers.

They found a point mutation in the gene (a single altered base pair) in one of 91 randomly selected short individuals, and no such mutations in 300 people of average height — suggesting that about 1 % of all short people may carry a SHOX mutation.

Gene moonlighting can occur merely through changes in expression, which may result from as little as a single mutation; it does not require the meandering process of random alteration and selection implied by the duplication and neofunctionalization model.

The researchers, led by Dr Charles Wondji, used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic.

For each gene, the researchers compared the number of single letter mutations that alter the encoded protein versus silent mutations that have no effect.

«Mutations in Shell explain the single most important economic trait of the oil palm: how the thickness of its shell correlates to fruit size and oil yield,» explains Dr. Rajinder Singh of the MPOB, first author of the Nature paper describing the Shell gene.

The research, the cover story of this month's Science Advances, builds upon previous studies from Dr. Olson in which CRISPR - Cas9 corrected a single gene mutation that caused DMD in mice.

While the disease is caused by a single gene mutation, the manifestation of the disease at a molecular level is nevertheless highly complex and involves multiple cellular processes.

Scientists have developed a CRISPR gene - editing technique that can potentially correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy (DMD) by making a single cut at strategic points along the patient's DNA, according to a study from UT Southwestern Medical Center.

About 1 in 25 people in white populations carry one normal copy of the gene and one mutated copy, and 70 per cent of all CF carriers in the northern European group carry the same single mutation in the gene.

Twenty years after he first stumbled on FOP, Economides and his colleagues report today that the gene mutation shared by 97 % of people with the disease can trigger its symptoms in a manner different than had been assumed — through a single molecule not previously eyed as a suspect.

Although another recent study found that a single gene mutation heightened the risk of obesity by up to 67 percent, genetics can not explain the skyrocketing obesity trend.

Most of the afflicted family members, but none of those who sleep normally, carry a single base - pair mutation in a gene called hPer2, the researchers report 12 January in a paper published online in Science.

By contrast, not a single one of 25 colorectal patients lacking mutations in mismatch repair genes responded.

In the years after finding the CFTR gene at the root of the disease, Collins, Tsui and others discovered the situation was far more complex than they had ever dreamed: Instead of just a single mutation in the gene, researchers found some 1,900 distinct mutations.

Silent mutations occur when the change of a single DNA nucleotide within a protein - coding portion of a gene does not affect the sequence of amino acids that make up the gene's protein.

Rather than being triggered by a single gene mutation, the tumors are caused by too many or too few copies of a gene in a person's cells.

Because of these limitations, the AAV approach is best suited for tissue culture based approaches that require modification of only a single allele of a gene, such as the introduction of heterozygous endogenous epitope tags, or the introduction of dominant mutations of a gene into the endogenous allele in cultured cells.