Not exact matches
Also
found in the water bear genome were more
copies of an anti-oxidant enzyme and a DNA repair
gene than in any other animal.
A previous study
found that today's dogs have many
copies of the AMY2B
gene, which produces an enzyme that helps break down starch, while wolves have only two
copies.
So Sandra Ryeom at the Children's Hospital in Boston and colleagues bred mice with three
genes to
find out if an extra
copy gave them extra protection against cancer.
The less adept mice, Rubin's team
found, carry extra
copies of a previously known human
gene called DYRK; a mutated version of an almost identical
gene in fruit flies, called minibrain, causes neurological defects.
The investigators
found that people with only one working
copy of the
gene had LDL cholesterol levels an average of 12 milligrams per deciliter lower than the wider population of people with two working
copies of the
gene.
The
findings jibe with previous reports that PCR tests sometimes overlook a
gene with large deletions, detecting only the other, normal
copy of the
gene.
They
found that when the
gene was on the leading strand, the polymerase gaffed the
copying up to 6 times more often than when the
gene was on the lagging strand.
Researchers
found that some people who had been repeatedly exposed to HIV but remained uninfected had two
copies of a defective CCR5
gene.
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.
Affected family members, the group
found, had inherited one or two defective
copies of ZIC3, a previously unknown
gene that appears to code for a transcription factor — a protein that switches other
genes on or off.
She harbors two mutant
copies of a
gene, and therefore lacks a protein that manages blood clotting, but researchers
found that people with one inactivated
gene copy outlive their peers by a decade and gain protection against diabetes.
The population study
findings, including those from the JACC study, suggest that even the partial inactivation of ANGPTL3 — carriers typically have one mutant
copy of the
gene and one working
copy — may be powerfully protective against coronary artery disease, which has long been one of the leading causes of death in developed countries.
By comparing the genetic sequences of the mutant and normal flies, the researchers
found that the forgetful flies had an inactive
copy of a
gene that he and his Chilean collaborators dubbed Volado (Vol)-- South American slang for absentminded.
To
find out, the scientists bred mice that lacked either one or both
copies of the
gene.
What the researchers
found especially astonishing is that this was true even in octogenarians with two
copies of the APOE - 4
gene, which is present in about 90 percent of 80 - year - olds with Alzheimer's.
What emerged from their work was the
finding that the girl had inherited two differently mutated
copies of the
gene IRF7, which encodes a protein that amplifies the production of interferon, a critical part of the body's response to viral infections.
The
finding also led them to the protein made by a normal
copy of the
gene that promotes sleep early in the night and properly regulates sleep cycles.
«What you have to do,» he explains, «is
find a
gene that has only one
copy expressed.»
Over a five - to 10 - year period, the disease progressed 14 percent faster in people with one
copy of APOE4 and 23 percent faster in people with two
copies than in people who didn't have that version of the
gene, the researchers
found.
By comparing proteomic and RNA - sequencing data from people on different exercise programs, the researchers
found evidence that exercise encourages the cell to make more RNA
copies of
genes coding for mitochondrial proteins and proteins responsible for muscle growth.
In a remote Turkish village, researchers have located a family with a mutation in the leptin
gene similar to the one
found in lab mice, and — just like the mice — adults with two
copies of the mutation are grossly overweight and don't ever go through puberty.
Researchers
found that kochia has evolved to have multiple
copies of a
gene code that targets glyphosate.
When the team analyzed the patient's DNA, they
found a mutation in both
copies of the leptin
gene.
For instance, the researchers
found that an immune system
gene called DUSP22A on chromosome 6 was duplicated, but its
copy, DUSP22B, is located on chromosome 16.
They frequently
find that in both types of disease the region of the «healthy»
copy of chromosome 17 that should carry the normal
copy of the BRCA1
gene is missing, leaving only one
copy of the
gene — the one with the cancer - causing mutation.
The researchers emphasized that the
finding does not suggest that breast milk from mothers without an active
copy of the
gene is less nourishing or healthy.
It is
found in about 1 in 2,000 people, and occurs when an individual inherits a defective
gene copy from both parents.
The study
found that, on average, Bifidobacterium were established earlier and more frequently in infants fed by women with an active
copy of the
gene, the secretors, than without one, the non-secretors.
The team therefore analyzed the case history of 890 breast cancer patients and
found that low Numb - 1 and -2 levels correlated with an increased risk of aggressive, metastatic disease, particularly for the luminal subtype of breast cancers, which tend to retain a normal, functional
copy of the p53
gene.
The kitten was
found to have two
copies of a mutation in the NPC1
gene, which causes Niemman - Pick type 1, a fatal disorder.
A yeast retrotransposon called Ty3, the researchers have
found, is especially judicious: it always inserts itself in safe places, outside
genes rather than inside them, and only near
genes of which a yeast cell has many
copies.
They
found that the number of
copies of lncRNA
genes on a chromosome consistently change in 12 different cancer types and lncRNA
genes are widely expressed in cancer cells.
The team
found that adding in a single extra
copy of
gene that expresses Maf1 decreased stored lipids by 34 percent, while reducing Maf1 levels increased stored lipids by 94 percent.
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 team
found that people with only one good
copy of the
gene make roughly half the normal levels of the hormone.
The
findings suggest that Turner women who receive a
copy of the X chromosome from the father (and normal women, who get a
copy from each parent) are more adept at social skills, although it's unclear which
genes might be at work.
Instead, Lolle and Pruitt
found that 1 % to 10 % of the offspring produced normal flowers, indicating that at least one
copy of the mutant
gene had reverted to the nonmutated wild - type.
They did, however,
find copies of
genes related to CDR1, CDR2, and few others that encode other transporters associated with drug resistance — although the way they function in C. krusei is unknown.
In search of an explanation, the scientists combed through the African elephant genome and
found at least 40
copies of
genes that code for p53, a protein well known for its cancer - inhibiting properties.
C. krusei, they
found, has few
copies of
gene families associated with pathogenesis in C. albicans, including oligopeptide transporters, aspartyl proteases, and phospholipase B
genes.
Using postmortem human brain samples, the researchers
found that variations in the number of
copies of the C4
gene that people had, and the length of their
gene, could predict how active the
gene was in the brain.
They
found that about 3 to 5 percent of female lymphocytes expressed two
copies of these
genes, as well as two
copies of a
gene unrelated to immunity.
But Lo's team
found more of the healthy allele, suggesting that the fetus had inherited the correct maternal
copy of the
gene and would not develop beta - thalassaemia.
They
found that 10 per cent of these children have
copy number variations (CNVs) affecting
genes deemed clinically relevant.
Two groups of researchers published the first genome - wide CNV maps, which illustrated that variation in
gene quantity is actually quite common: each group
found about 12
copy number imbalances per person.
Again, they
found reduced survival: Over 10 years, 46 % of women with two
copies of NQO1 * 2 survived, compared with 75 % of women with at least one normal NQO1
gene.
The research team
found a surprising variety of spontaneous mutations, from simple deletions or insertions to «jumping
genes» — elements of DNA that
copy and paste themselves into other parts of the genome.
Bellott and his colleagues looked closer at the properties of the ancestral Y chromosome
genes and
found that the majority of them were dosage - dependent — that is, they required two
copies of the
gene to function.
A common mood - stabilizing drug, valproate, is
found to control manic - like behavior induced in mice with an extra
copy of a
gene called SHANK3
Researchers
found that the
gene XIST, which is responsible for inactivating one of the two
copies of the X chromosome in cells that store genetic material, works overtime in female patients with mental illnesses, such as bipolar disorder, major depression and schizophrenia.