This method is designed to
discover gene function and validate candidate genomic sequences involved in human disease.
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.
The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have
discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of -
function mutations in the
gene DENND5A.
The scientists also
discovered that the stem cells released tiny packets of microRNA, bits of genetic material that control how
genes function.
«Y chromosomes are vital for male development and fertility and it will be fascinating to gain a better insight into the
function that these newly
discovered genes have in different species,» she says.
After extensive analysis of this new
gene, the team
discovered that moc1
functions as a chloroplast - specific «Holliday junction resolvase», which Nishimura continues, «is very important in untangling a DNA structure called Holliday junctions.
With rapid advances over the past 10 years in technologies for
discovering and analyzing the
functions of
genes, researchers are now increasingly able to get at the biological roots of complex disorders such as substance abuse and addiction.
These two areas, though, are linked in more ways than just
function — the same
gene controls the size of each area, Salk researchers led by Dennis O'Leary have now
discovered.
Potentially explaining why even healthy brains don't
function well with age, Salk researchers have
discovered that
genes that are switched on early in brain development to sever connections between neurons as the brain fine - tunes, are again activated in aging neuronal support cells called astrocytes.
«The power of this study is that we looked at
genes discovered to be over-expressed in patients» tumors and determined their
function in kidney cancer, which has not been done on a large scale before,» he says.
Furthermore, half the worm
genes have human counterparts, so
discovering the
function of the worm's
genes will help explore what human
genes do.
Moving forward, the researchers want to identify the
functions of the newly -
discovered taste
genes.
By measuring
gene expression in the transgenic mice using DNA microarrays, researchers
discovered 50 biomarkers of
gene expression that each indicated declining kidney
function.
The next phase of study involving the newly
discovered gene mutations will investigate their
function using human blood samples at the molecular level.
Among the approximately 100 imprinted
genes discovered so far, about half of them, including Igf2, make proteins in the brain, raising the question of whether imprinting errors in
genes that control the structure and
function of the brain might contribute to mental illness.
In the early 1990s, Adrian Bird of the University of Edinburgh
discovered the MeCP2 protein and proposed that it
functions as a repressor of downstream
genes.
Ruiz - Trillo and his team sequenced the Capsaspora genome in an earlier project and
discovered that the amoeba contained many
genes that, in animals, are related to multicellular
functions.
They analyzed the genome of the common mold Aspergillus and
discovered a small cluster of
genes whose
function was previously unknown.
A study investigating the
function of the recently
discovered enhancer RNA molecules may open new avenues for
gene therapy.
When the data was sorted and refined, the scientists
discovered that patients who benefited from the immunotherapy treatment with longer survival and progression - free survival were those whose tumors lacked a
functioning PRBM1
gene.
Next, the researchers
discovered a set of
genes and compounds that can transform these cells into
functioning liver cells.
Other labs will pitch in for the final assembly and annotation of the genome, as well as analyzing the
functions of the new
genes discovered.
The regulation of the CAMP
gene by vitamin D was
discovered by Gombart, and researchers are still learning more about how it and other compounds affect immune
function.
Reanimation of
genes in living cells allows us to
discover the
function of that prehistoric information in ways that studying genetic code alone can never provide.
The authors highlight the importance of measuring the variability of transcript expression and location in so many cells by using their data to
discover genes with related
functions in the cell.
Test each mutant mouse line (4,000 mouse lines in the first 5 years, and ultimately up to 20,000) through a broad based primary phenotyping pipeline in all the major adult organ systems and most areas of major human diseases.Through this activity and employing data annotation tools, systematically aim to
discover and ascribe biological
function to each
gene, driving new ideas and underpinning future research into biological systems.
Working with touch - insensitive mutants, Chalfie's group has
discovered that five of these 17
genes are responsible for cell development, twelve for cell
function.
By labeling HAR1 molecules in human and macaque embryos, we
discovered that the RNAs
functioned in neurons during patterning and layout of the cortex, 6 a brain structure that expanded greatly in size during human evolution.7 Exactly which
genes HAR1 is regulating remains to be determined.
This project will
discover genes that control cuticle development and
function in corn, evaluate the potential for improvement of the leaf cuticle to help produce crops with increased drought tolerance and resistance to diseases, and generate tools to guide these efforts.
The mapping of the genome was finished in 2003, and scientists are continuing on the quest to
discover what each
gene does and how it
functions.
Her current research is focused on
discovering how normal and disease melanocyte cell states establish distinct regulatory DNA landscapes, and also determining how the combination of both genetic variation within these regulatory regions and environmental cell signals alter
gene expression and normal cell
function.
«We have
discovered that the AaMYB1
gene has a dual
function: it promotes trichome formation in the leaves and artemisinin synthesis inside the trichomes», explains Soraya Pelaz, ICREA researcher at CRAG and senior author of the article.
Using weighted
gene co-expression network analysis, we
discovered that amylin treatment influenced two
gene modules linked with amyloid pathology: 1) a module related to proinflammation and transport / vesicle process that included a hub
gene of Cd68, and 2) a module related to mitochondria
function that included a hub
gene of Atp5b.
Results: We
discovered stable epigenetic signatures which define regional differences in gut epithelial
function, including induction of segment - specific
genes during cellular differentiation.