Sentences with phrase «human gene variants»

He has traced many early - onset forms of cancer, heart disease, and Alzheimer's to older human gene variants.

«Using a technique developed by our collaborators at the University of Iowa, we were able to get long - term expression of these human gene variants in the fluid that bathes the entire brain,» says Bradley Hyman, MD, PhD, of the MassGeneral Institute for Neurodegenerative Disease (MGH - MIND), senior author of the report in the Nov. 20 Science Translational Medicine.

While previous investigations into the protein's effects have used either mice in which gene expression was knocked out or transgenic animals that expressed human gene variants throughout their lifetimes, the MGH - MIND - led study used a different approach to investigate the effects of introducing the variant forms of the protein into brains in which plaque formation had already begun.

Examples include modern human gene variants for cognitive development.

When exposed to estrogen, an area in the brain's memory hub that is typically suppressed during such tasks instead activated in those with the uniquely human gene variant.

Not exact matches

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

FADS1 FADS2 gene variants modify the association between fish intake and the docosahexaenoic acid proportions in human milk

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA.

In humans, there are three common variants, or alleles, of the APOE gene, numbered 2, 3 and 4.

An apparently new Variant of human serum albumin, albumin Naskapi, has been found in high frequency in the Naskapi Indians of Quebec and, in lower frequency, in other North American Indians.The family and population data of the albumin are consistent with its inheritance as a simple autosomal trait Controlled by a gene designated Al Naskapi.

A typical human exome has dozens of these loss - of - function gene variants.

We show that Neandertals shared more genetic variants with present - day humans in Eurasia than with present - day humans in sub-Saharan Africa, suggesting that gene flow from Neandertals into the ancestors of non-Africans occurred before the divergence of Eurasian groups from each other.

The IGF1 protein is crucial for the growth of mammals, including mice and humans, so Ostrander's group and other collaborators began collecting DNA from additional breeds to see if they also shared the same gene variant.

Humans are still evolving and producing new gene variants, and one of them may give protection against becoming addicted to alcohol - by stopping us drinking altogether

«Gene variants modifying Huntington's symptom onset may lead to new therapeutic strategies: Genome - wide association analysis identifies sites associated with earlier - or later - than - expected symptom appearance in human patients.»

A variant form of the gene was first noted in humans in a Hawaiian study of long - lived men of Japanese ancestry and has since been found in long - lived Germans, Italians, Ashkenazi Jews, and Chinese.

In several groups of people, a gene variant allowing the lactase, the enzyme breaking down the sugar in milk, to persist into adulthood became common about 5000 to 7000 years ago, when humans were herding cattle — as evidenced by this rock painting of domestic cattle in the Jebel Acacus region of the Sahara desert in Libya.

The group has also shown that in humans, genetic variants of the Oprl1 gene are associated with higher risk of developing the disorder after exposure to trauma.

All land vertebrates carry a version of the FOXP2 gene, so some of the Oxford researchers then teamed up with colleagues from the Max Planck Institute for Evolutionary Anthropology in Germany to analyze what is unique about the variant in humans and to track how the gene had evolved in our ancestors.

Spalax naturally have a variant in the p53 gene (a transcription factor and known tumor suppressor), which is identical to a cancer - related mutation in humans, Band said.

They then examined genetic variants throughout the human genome for their effects on gene expression in these two representative populations of immune cells.

The amount of variation within any human population, however, almost overwhelms those average differences: Just about any gene variant found among the Lapps or the Malays will eventually be found in Nigerians as well.

For example, researchers reported in a much touted 2006 Science article that they had discovered a gene variant that seemed to confer a risk for obesity, and they replicated the results in four human populations.

In humans, variants of the IL - 15R - alpha gene have been found in world - class endurance competitors, suggesting a target for gene therapies aimed at boosting the ability to exercise longer.

Animal studies have suggested that overactivation of TLR7 plays a role in lupus, and a gene variant that increases expression of the receptor has been associated with increased lupus risk in human patients.

Among the gene variants modern humans inherited from Neandertals are ones associated with higher cholesterol, increased belly fat, rheumatoid arthritis and schizophrenia, researchers learned from analysis of the new Neandertal DNA.

The NCP1 gene identified is not a known variant in humans; it is a rare mutation to the feline population.

Variants in the IQCB1 gene are known to cause retinal degeneration in humans.

Their analysis — which used DNA data from a Neandertal woman from the Altai Mountains in Siberia (SN: 1/25/14, p. 17) and 112,338 present - day British people — confirmed some links between Neandertal heritage and human diseases made by previous studies (SN: 3/5/16, p. 18), but didn't find evidence that Neandertal gene variants contribute to obesity.

Once transferred into the human genome, however, these alleles became subject to natural selection, which was more effective in the larger human populations and has removed these gene variants over time.

But specifically how human variants of such genes shape our brain in development — and how they drove its evolution — have remained largely mysterious.

Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after interbreeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, according to a study by Ivan Juric and colleagues at the University of California, Davis, published November 8th, 2016 in PLOS Genetics.

Previous work has also shown that, following hybridization, many Neanderthal gene variants were lost from the modern human population due to selection.

New gene variants have arisen and spread among humans in the recent past.

«MARRVEL helps to facilitate analysis of human genes and variants by cross-disciplinary integration of 18 million records so we can speed up the discovery process through computation,» Liu said.

They show that about 92 per cent of the population harbors bacteria with a variant of the gene sequence, according to a survey of public genome data from 250 adult humans.

Think of the human genome as a very large deck of cards, each card bearing a gene variant.

Where the Neanderthal had gene variants for a larger skull, for instance, Church would use MAGE to modify the nucleotide sequences that constituted those genes in one or more of the chunks of human DNA.

A new study shows that large structural variants in human glycophorin genes, which are unusually common in Africa, are protective against malarial disease.

For the new mouse model, the researchers exposed adolescent mice with at least one copy of a variant of the BDNF gene, which has been associated with anorexia and anxiety in mice and humans, to social stress and caloric restriction.

If, say, an unexpected adverse event pops up in a human trial, the informaticians can then sift animal, lab, and human data to investigate the possibility that certain gene variants or other factors predispose patients to the adverse event.

As well as Zika virus, the team has also used SHERLOCK to detect antibiotic resistance genes in Klebsiella pneumoniae bacteria, and health - related gene variants in human saliva.

Discovery of the human variant of the FOXP2 gene in Neandertals suggests they may have had language skills

After analyzing human DNA from several populations around the world and examining primate genomes dating back to the shared ancestor of both humans and chimpanzees, researchers reached a striking conclusion that several gene variants linked to schizophrenia were actually positively selected and remained largely unchanged over time, suggesting that there was some advantage to having them.

But they found the same gene variant in the genome of a Denisovan, an extinct species of human known only from a cave in the Altai mountains in east - central Asia (Nature, DOI: 10.1038 / nature13408).

More recently, improved gene - sequencing technology and larger population studies have made it possible to detect gene variants that appear in only 1 percent of the human population.

The new MRI evidence points to a a gene variant shared by modern - day humans and Neanderthals that is likely involved in development of the brain's visual system.

In a previous study of Pygmy genomes, Tishkoff and colleagues had found variants in genes involving human growth factor, which the pituitary gland produces to regulate height.

As well as Zika virus, the team has also used SHERLOCK to detect antibiotic resistance genes in Klebsiella pneumoniae bacteria, and health - related gene variants in human saliva (Science, DOI: 10.1126 / science.aam9321).

The research in his laboratory involves the study of the nature and extent of human immunodeficiency virus (HIV) genetic variation, the biological and evolutionary processes that have produced the observed patterns, and the human genes and their relevant genetic variants that influence susceptibility or resistance to HIV infection.