What the other four
gene variants do is less clear, but they could be an evolutionary response to selective pressures besides high altitude.
When the twins were given cognitive tests after sleep deprivation, those with
the gene variant did better, making 40 % fewer errors.
It is important to note that even if
this gene variant did become dominant, it would not be sufficient to prevent alcohol dependence alone.
But having those gene variants doesn't mean you'll get celiac disease, which suggests that additional factors must be involved.
Not exact matches
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).
That
does not mean that breeders could create a 200 - pound Chihuahua by swapping the small IGF1
variant for another, she says, because multiple
genes work together to shape a breed's traits, including its size.
Dr Antonio Pardiñas, first author of the study, said: «We show for the first time that genetic
variants that
do not severely impact
gene function, but presumably have a more subtle impact on these critical
genes, increase risk for developing schizophrenia.»
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.
Although individuals with
variants in their FTO
gene have almost double the risk of obesity compared with those who
do not inherit the
gene, «having the FTO
variant doesn't mean one is destined to be fat.
But the real heavy lifting comes with deciphering exactly what these
genes do, and creating a mosaic with these bits and pieces that can provide a fuller picture of how the genetic
variants work to cause destruction.
New genome - sequencing research suggests white European people with two copies of
variant forms of MC1R, a
gene linked to pale skin and red hair, have faces that appear up to two years older than those who are the same age but don't have both copies.
Gene variants have been linked to elevated risks for disorders from Alzheimer's disease to breast cancer, and they may help explain why, for example, some smokers develop lung cancer whereas many others don't.
By 12 months of age, infants with this
gene variant whose needs were consistently attended to responded to stress just as effectively as
did the babies with other versions of the
gene.
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.
The authors found that in children with a genetic
variant in the vitamin D receptor
gene, vitamin D levels in infancy and childhood were lower in those that went on to develop islet autoimmunity compared with those that
did not develop autoimmunity.
The Penn study
did not examine why no statistically significant relationships between smoking, the
gene variants under investigation, and earlier menopause were observed in African Americans.
What we need to
do now is to see if other circadian
gene variants in association with different stress factors cause the same effect.
«We don't know if studying the fish will directly help us,» said Rohner, «but evolution has tried a lot of
gene variants over millions of years and I think that's smarter than anything we can come up with, even with machine learning.
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.
Athletes who excel in endurance sports are more likely to have another version of the
gene — this one called the X
variant — that
does not produce actinin.
«If you line up these [
variants] and determine the likely function of the
genes,
do they tell the same story?»
Moreover, disease - causing
variants in DNA often
do not act directly, but by activating nearby
genes.
Affected individuals
do not have a disease: they only carry 1 copy of a hemoglobin
gene variant, and unlike individuals with 2 copies of the
variant, they
do not experience symptoms.
Researchers have identified a
gene variant which explains why some patients with Parkinson's Disease respond well to drug treatment and other
do not.
When a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine realized they were spending days combing through databases searching for information regarding
gene variants, they decided to
do something about it.
So
gene variants that have been selected for are often found surrounded by the same stretches of DNA, whereas those that have not been selected
do not have consistent genetic neighbours.
Not only
do black - furred dogs and wolves have the same
gene variant, but the DNA surrounding the K locus is also quite similar — and quite different from that of gray wolves — suggesting that the
variant was introduced when wolves interbred with domestic dogs.
For instance, when the researchers removed the possible confounding influence of ApoE4 by looking only at families lacking that ApoE
variant, they found that the frequency of the mutant A2M
gene in Alzheimer's patients was four times greater than in their siblings who
did not have the disease.
«While this study
does not show that these common
gene variants produce schizophrenia per se, it elegantly suggests that these
variants may contribute to declines in intelligence, a clinical feature associated with schizophrenia,» commented Dr. John Krystal, Editor of Biological Psychiatry.
While the team doesn't know the function of those Neandertal
gene variants, it began to search for their influence by examining brain tissue from the prefrontal cortex of 14 adults of European, African, and Asian descent, as well as 14 chimpanzees.
The next step is to
do functional studies to see how these
gene variants actually regulate oxygen levels.
What
does that mean for a patient with two
variants in a recessive disease
gene?
And they didn't just find one
gene variant, but hundreds of them across multiple
genes.
They
did their best to filter out
genes known to have random monoallelic expression, single - allele expression due to sequence
variants, or RNA patterns that might look like monoallelic expression due to technical issues with the sequencing.
An associated
variant near a
gene may have nothing to
do with that
gene.
On the other hand, two Italian wolves with an unusual, black coat colour
did not show any genetic signatures of hybridisation, except for carrying a dog - derived
variant of a
gene linked to dark colouration.
However, when we extracted
gene expression levels from the brain transcriptome data following the methodology in Carneiro et al. [29], we found that levels of nucleotide diversity and the proportion of low frequency
variants between lowly (bottom 5 %) and highly (top 5 %) expressed
genes in our dataset (Table S7) were not significantly different in most comparisons (with the exception of π in O. c. cuniculus) nor
did they consistently differ in the expected direction when assuming higher error rates in lowly expressed
genes.
In most cases, the researchers know only of the association with the identified
gene variants, and not what the
genes might specifically
do.
It means the parasites don't have to rely on being inside mosquitoes to recombine their var
genes and produce new PfEMP1
variants — they can
do it all from within infected people.
The causative cancer
gene variants are hiding in plain sight in these and other cancer
genes, but the original testing laboratory didn't recognize them.
Also, being homozygous for a common
variant in the child's COMT (catechol - O - methyltransferase)
gene was linked to over 7 times the estimated autism risk in mothers who
did not take the supplements around conception time, in comparison to children with other genotypes whose mothers
did take periconceptional prenatal vitamins.
Increased autism risk was also linked to other maternal
gene variants related to less efficient one - carbon metabolism, but only when the mother
did not take the prenatal vitamins in the early months before and immediately after conception.
This test
does not identify or report on the ε2 and ε3
variants of the APOE
gene.
We
do not test for all possible
variants in the BRCA1 and BRCA2
genes.
It
does make me wonder if the 25 % of the population with apoE4
genes should eat a low seafood
variant of PHD.
Concurrently a study in Labrador retrievers has identified a mutant
variant of ATP7B (Chr22) the Wilson disease copper transporter
gene in their affected dogs while COMMD1
does not appear to be involved in affected dogs in this and other breeds.
Doing a genetic test and subsequently eliminating an individual from the breeding population may not be the best strategy, as by targeting a particular allele at one genetic locus for removal from the
gene pool of a particular breed, breeders may in fact increase allele frequency of genetic
variants on alternative haplotypes at the same, or a different locus, that are recessively deleterious.
The study researchers found some 30 percent of Labrador retrievers carry the mutant
gene though they may not show symptoms since they don't carry two copies of the dynamin 1
variant.
Variant: Purebred cats that
do not meet the breed standard due to hidden
genes e.g. longhaired Bengals.
For example, in a study of the long - term impact of the Fast Track programme in the USA for children with behavioural problems, children with a particular genetic profile (those with a
variant in the glucocorticoid receptor
gene) were the ones who both benefitted the most from the intervention and the ones in the control group who
did the worse when no intervention was provided (Albert et al., 2015).