Now, using modern molecular genetic methods, scientists can see
which gene variants were in fact being selected during this process, and SWEET4 was among them.
Without knowing
which gene variants were contributing useful properties, people simply selected the best plants for continued cultivation, in this case choosing plants that had large backpacks.
It's tough to learn
which gene variants are associated with the disorder because many genes seem to be involved.
Approaching a biomedical problem from the informatics point of view — for example, Butte is studying
which gene variants might predispose children to type 2 diabetes — allows a researcher to survey the available data without preconceived ideas.
A statistical algorithm then analyzes
which gene variants the fetus has inherited from each parent and detects new mutations in the child's DNA.
Not exact matches
The company will now be able to sell health risk reports on three
variants found on the BRCA1 and BRCA2
genes,
which are linked with a higher risk of breast, ovarian, and prostate cancer.
«Those carrying the target
gene variant slept, on average, for five hours,
which was one hour shorter than their twins without the
gene.
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.
Some
genes have a variety of different forms,
which are located at the same position on a chromosome; an allele is such a
variant form of a
gene.
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.
They also worked out
which of 221 dead relatives would have carried the
gene variant, and analysed how long each of these lived.
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.
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.
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.
A hitherto - unknown
variant of the
gene which makes rogue prions, the proteins that spread the disease, was found in 51 survivors and their descendants.
Those who are not protected and still develop allergies have a genetic
variant of the A20
gene which causes the A20 protein to malfunction.»
Luckily, along came Armstead and his colleagues, who were working to precisely locate the sequence of a
gene called staygreen (sgr) in the meadow grass Festuca pratensis, some
variants of
which remain green in drought and other unfavorable conditions because they are unable to break down a green pigment.
They discovered that several genetic
variants in the hunter - gatherers were linked to a
gene associated with physical performance,
which they hypothesise could be part of the physiological adaptation to cold.
We did not find any evidence for a so - called «positive selection» but instead found that many
gene variants linked to schizophrenia reside in regions of the genome in
which natural selection is not very effective in the first place.
The team also examined data from a prior genetic study of children with asthma and found that a
variant of the dectin - 1
gene —
which reduces production of the receptor — is strongly linked to increased asthma risk.
One
variant involves a
gene that makes CLTCL1,
which is a really interesting protein.
The standard theory of evolution is that animals that randomly inherited
genes that produced beneficial traits — in the case of the giraffe, a longer neck,
which made it easier to reach tall acacia trees — ate better, reproduced more often and passed these
gene variants to their offspring.
While several studies in the intervening years have investigated whether particular
genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis,
which scans an individual's whole genome to identify chromosomal regions containing
variants that are associated with the disease traits that are being studied.
These discoveries build upon previous findings about
genes linked to Alzheimer's, such as the APOE - 4
gene,
which is a powerful marker for late - onset Alzheimer's disease; about 40 percent of those diagnosed have this DNA
variant.
«Our research suggests that such
variants may have piggybacked onto positively selected regions,
which were also enriched in disease - related
genes,» Lohmueller said.
About 4 percent of people in the study carried one of these two rare
variants,
which are located in the vicinity of the MGST1
gene on chromosome 12.
In 2011, Science's editors will be watching a smaller detector at the Large Hadron Collider called LHCb,
which will study B mesons in great detail; new techniques that should lead to the discovery of many more
genes contributing to adaptation; an ignited fusion burn at the National Ignition Facility; broadly neutralizing antibodies,
which are capable of disabling a wide range of viral
variants; the first plug - in hybrid electric cars whose batteries are charged from a wall socket go on the market; and the results of the first phase III trial of a malaria vaccine.
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.
But because the
gene appears to affect only the cat's color, white tigers are simply genetically healthy
variants of Bengal tigers,
which, if bred carefully, might still survive well in the wild.
The
variant is in a
gene called HMGA2,
which has previously been linked with people's height.
But some of the babies did not show this normal decrease in vagal tone during distressing periods; the researchers found that these infants who lacked an effective response at ages three and six months shared a particular
variant of the DRD2
gene,
which regulates receptors for the neurotransmitter dopamine.
In this research, the group looked at two
variants of miR - 21, a microRNA «oncomiR» known to target tumor suppressor
genes and
which is highly expressed in a number of cancers as well as other proliferative diseases such as psoriasis.
To determine
which variant of the receptor
genes study participants possess, DNA was collected via saliva samples for genetic analysis.
Professor Peter Kraft at Harvard TH Chan School of Public Health, USA, says: «Given the size of these studies, we expected that we would find a lot of new breast cancer risk
variants, but the studies tells us a lot more about
which genes are involved, revealing many previously unsuspected
genes and genetic mechanisms underlying breast carcinogenesis.
Five decades on from the appearance of the first MRSA, multiple MRSA lineages have emerged
which have acquired different
variants of the resistance
gene.»
«Here we show that the bitterness of sampled ethanol varies with genetic differences in bitter taste receptor
genes,
which suggests a likely mechanism to explain previously reported relationships between these
gene variants and alcohol intake.»
These 71 markers were found in the ANK1 and RHBDF2
genes, as well as ABCA7 and BIN1
which harbor known Alzheimer's disease susceptibility
variants.
The study,
which has identified more than 200 rare
variants inherited by children, determines that
genes YWHAZ and DRP2, among others, are new candidates in the research on autism genetic basis.
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.
They directly injected into the cerebrospinal fluid of a mouse model of Alzheimer's — adult animals in
which plaques were well established — viral vectors carrying
genes for one of the three APOE
variants or a control protein.
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.
Results from the analysis confirmed previous findings of some copy number
variants already associated with autism, but they also found a host of other
genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in
which mutations seem to be linked to autism.
The
gene for MAO - A has several
variants, some of
which are associated with relatively higher and lower levels of enzyme activity.
And even if such a demand existed, there was no evidence that genetic counseling could help patients with psychiatric disorders,
which — like most of the more common diseases — are caused by a complex interplay of multiple
genes and
variants as well as environmental factors.
For example, some people have a particular
variant of the ADH1B
gene that causes an amino acid change in this enzyme,
which leads to faster enzyme activity so individuals with this
variant metabolize alcohol more rapidly
which means that acetaldehyde levels are temporarily increased.
In fact, in another study published last year, National Institute on Aging (NIA) researchers discovered that people with what's called a CR1
gene variant — the presence of
which heightens Alzheimer's disease risk — had much lower levels of amyloid protein compared with those without the mutant
gene.
One difficulty in studying the genetics of common mental illnesses is that they are generally caused by environmental factors in combination with multiple
gene variants, any one of
which usually could not by itself cause disease.
Researchers have identified a
gene variant which explains why some patients with Parkinson's Disease respond well to drug treatment and other do not.
One study even identified two
genes in
which particular
variants can slow the onset of AIDS, demonstrating the potential of this approach for understanding why people vary in their susceptibility to infectious diseases.