Mekile says she plans to use her award to establish a link between
gene variants in patients and autism - like neurological disorders.
Prüfer and her team additionally identified a wealth of new
gene variants in the Neanderthal genome that are influential in people today of European and Asian heritage.
Freedman, B. I., et al. «Apolipoprotein L1
gene variants in deceased organ donors are associated with renal allograft failure.»
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).
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.
«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.
What we need to do now is to see if other circadian
gene variants in association with different stress factors cause the same effect.
The researchers replicated these three PKC alpha
gene variants in laboratory cell lines.
In this genome - wide association study, researchers found gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and
gene variants in three loci associated with extrinsic epigenetic age acceleration.
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).
These scientists studied whether
a gene variant in the FTO gene, which regulates the appetite and thereby increases the individual's BMI, is also linked to a series of cardiovascular diseases and metabolism.
For example, a particular
gene variant in the promoter region of the IL10 gene is associated with a 40 to 60 % increased risk of developing active tuberculosis among Europeans and Americans [75].
Earlier, this geneticist at the University of California, Berkeley, had looked for the source of the Tibetan
gene variant in other peoples.
In 2002, two groups identified a particular
gene variant in the major histocompatibility complex (MHC), called HLA - B * 5701, as being the key factor in hypersensitivity to abacavir.
Not exact matches
To illustrate how it works
in practice, Koenig offers the example of a professional hockey player whose profile shows that he has
gene variants found
in people who respond rapidly to lactic - acid threshold training.
Athletigen's process involves taking a sample of an athlete's saliva and subjecting it to genotyping analysis to search for 850,000 different
gene variants that may play a role
in the formation of athletic traits.
Collaboration based on new findings from the Regeneron Genetics Center ® showing
variant in HSD17B13
gene is associated with reduced risk of chronic liver diseases
These
genes are implicated
in highly penetrant genetic disorders for which surgical or other interventions aimed at preventing or significantly reducing morbidity and mortality are available to pathogenic
variant carriers.5 Identification of a pathogenic
variant in one of these
genes could be diagnostic of a medical condition with potential implications for an individual's medical management.
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.
What the figure shows is that
in small populations, genetic diversity is rapidly lost, that is,
gene variants (i.e. alleles) become «fixed.»
Some researchers have looked into what role
genes might have
in our tendency to cheat, like last year's study on a certain
variant of the dopamine
gene DRD4 — and dopamine is the force behind our sexual drives, survival needs and pair - bonding behaviors.
After finishing the survey, participants
in the study can opt for an additional study and consider submitting DNA collected by a cheek swab to be tested for
variants at the Apolipoprotein E (APOE)
gene.
FADS1 FADS2
gene variants modify the association between fish intake and the docosahexaenoic acid proportions
in human milk
Genetic
Variants of the FADS1 FADS2
Gene Cluster Are Associated with Altered (n - 6) and (n - 3) Essential Fatty Acids
in Plasma and Erythrocyte Phospholipids
in Women during Pregnancy and
in Breast Milk during Lactation
Using a
gene - sequencing technique known as whole - exome sequencing that targets only the DNA that encodes proteins, the researchers cataloged virtually every significant DNA
variant in three families
in which the condition is common.
In 2008, researchers linked variants in the gene to the strong, frightful reaction some people have to horror movie
In 2008, researchers linked
variants in the gene to the strong, frightful reaction some people have to horror movie
in the
gene to the strong, frightful reaction some people have to horror movies.
No particular genetic
variant was shared across all synesthetes
in all three families, suggesting there is no single «synesthesia
gene» or set of
genes.
Every
gene in (almost) every cell of the body is present
in two
variants — so called alleles: one is deriving from the mother, the other one from the father.
These are subjected to so - called next generation sequencing, a technique that sifts the vast genetic composite, ferreting out sequence
variants (or alleles) caused by mutations
in genes.
But a faulty
variant of this
gene arose six generations ago
in an Amish group, causing the people who carry one copy of the
variant to produce half as much of the age - promoting protein.
Variants in the
gene called Telomerase Reverse Transcriptase (TERT) on chromosome 5 that were associated with older IEAA were also associated with longer telomeres indicating a critical role for TERT
in regulating the epigenetic clock,
in addition to its established role of compensating for cell replication - dependent telomere shortening.
A large - scale genetic study published
in The Lancet
in 2012 found no relationship between
gene variants that increased HDL and the likelihood of heart attack (though this research did not evaluate the SCARB1
variants).
As well as understanding the implications of finding this new
variant of the botulism
gene cluster
in a non-clostridial species of gut bacterium, the team are interested
in exploring how it might help
in developing new treatments for diseases.
A
gene variant that arose decades ago
in an Amish group seems to be enough to make people live ten years longer, as well as making them less likely to develop diabetes.
In fact, the MESA researchers had included 46 different variants of the gene in their sequencing databas
In fact, the MESA researchers had included 46 different
variants of the
gene in their sequencing databas
in their sequencing database.
The archaic - like
variants are associated with an increase
in the activity of the TLR
genes and with greater reactivity to pathogens.
The results, still
in a preliminary stage, show that patients with a specific
variant in the RET
gene - a proto - oncogene or cancer driver
gene;
variant G2071A - could be more sensitive to this drug.
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.
His team found a
variant near the
gene associated with earlier breast development
in girls and,
in boys, earlier voice - breaking.
The study, which is published
in the journal Molecular Psychiatry, describes a possible mechanism for how the
gene variant produces clinical symptoms by affecting levels of specific proteins
in the brain.
This process known as «alternative splicing» and allowing a single
gene to generate multiple protein
variants is especially prevalent
in the mammalian brain.
Friedrich and his colleagues analyzed the
genes of these
variant viruses
in their new study; no new ferret experiments were performed for the new analysis.
Variants of one
gene had a major effect on rapid changes
in beak size after a drought, researchers report
in the April 22 Science.
«Now, we know that epigenetic factors accumulate at a very different pace
in each person, depending on the genetic
variants of the lactase
gene.»
In 2010, they discovered a common
gene variant that predicts efficacy of the common anti-platelet medication, clopidogrel (Plavix ®).
Genes also play a role
in menopause, and two research teams have identified several
gene variants associated with advancing or delaying menopause by as much as two years.
In the journal Cell on July 27, researchers show how this DNA
variant enhances the activity of a
gene called endothelin - 1 (EDN1), which is known to promote vasoconstriction and hardening of the arteries.
All four teams focused their hunts on
gene variations found
in at least 10 per cent of the population, while Stefánsson thinks that rarer
variants may play a more significant role
in menarche.
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.