These projects explore the consequences of genome variation on human cell biology, and
thus gene function in health and disease.
Not exact matches
They identified previously unknown recurrent loss - of -
function mutations that target
genes regulating epigenetic pathways — ones that act on how tightly or loosely chromosomes are wound and
thus accessible for
genes to be expressed.
Thus, cells appear to require a double dose of PAR -
gene proteins to
function normally.
In this study, by using a systemic mtEF4
gene knockout mouse model, researchers found that mtEF4 knockout damages the oxidative phosphorylation
function in germ cells of male mice,
thus causing male sterility.
Then, while the pre-existing
genes kept the species viable, the extra
gene copies could evolve new
functions,
thus speeding evolutionary change.
Since proper
functioning of the fat body is essential for the development of the female reproductive system after a blood meal, identifying which miRNAs are important to fat body
functions, and what specific
genes they target, can help design ways to manipulate the levels of microRNA or their targets, affect their interactions, disrupt mosquito reproduction, and
thus prevent the spread of diseases the mosquitoes transmit.
ERVs — perhaps inherited millions of years ago — may affect
genes important to placenta
function and
thus may improve our ability to carry a pregnancy.
Then they sorted the mutations by type, focusing on 15,259 nonsynonymous mutations, which alter amino acids and
thus a
gene's
function.
Through systematic annotation of the resulting movies, we developed a phenotypic profiling system, which shows high correlation with cellular processes and biochemical pathways,
thus enabling us to predict new
functions for previously uncharacterized
genes.
A transcriptome research of its organs revealed its
gene signature is highly evolved and adapted for extreme longevity (slow metabolism, improved insulin
gene signaling and glucose homeostasis,
thus reduced blood glucose, improved cancer
genes, improved endothelial
function by eNOS (endothelial Nitric Oxide Synthase) meaning improved vascular coronary blood flow, improved microvasculature arterial and heart endothelium
function) but more importantly, to answer your question, some whales display low blood glucose hypoglycemia, this affects the quantity and period of proteins / DNA / cell exposure to glucose glycation, glycosylation and glycoxydation reactions.
We hypothesize that loss of MLL3 / KMT2C
function leads to a shift in the enhancer landscape, altering the sites available for estrogen receptor binding and
thus changing
gene transcription in breast cancer.
The findings reported in Nature Genetics indicate that genome architecture has important informational value for controlling
gene expression during cell reprogramming, and is
thus required for the specialized
functions of a cell.
While not all
genes with an immune
function will necessarily be regulated by any specific infection, and
thus an RNA - seq - based catalog of immune - related
genes can not be expected to be complete, it has the significant advantage of being unbiased by assumptions about conservation of
genes across species, and
thus serves as a valuable starting point for comparative analysis of the evolution of immune pathways.
Thus, tumors with loss of heterozygosity (LOH) at 9p21 - the chromosomal location of p16 - should have a high frequency of intragenic mutations in the other allele that block
gene function.
DNA lives in the cell nucleus and consists of thousands of
genes, each one holding the code, or «blueprint,» for building a particular protein molecule and
thus ensuring a certain cell
function performed by that protein.
Transgenic and
gene knockout / knockin technologies have become important experimental tools for assigning
functions to
genes at the level of whole complexity of organism, creating models of genetic disorders, evaluating effects drugs and toxins,
thus helping to answer fundamental issues in basic and applied research.
FoxP2 is a transcription factor,
thus the mechanism by which it exerts its
function (s) is through control of downstream
genes.
Our analysis predicts that the latter participate in the same biological processes as the known
genes in the corresponding clusters —
thus providing a starting point to study the
function of poorly characterized transcripts.
In addition to well - described
genes, clusters often contain transcripts the
function of which has not yet been associated with a specific biological process
thus providing novel unexplored links to known molecular pathways.
Specifically, we hypothesized that increased frequency of S allele carriers of the 5 - HTTLPR functional polymorphism within East Asia is due to culture —
gene coevolution, whereby collectivistic cultural values serve an adaptive
function, reducing the probability of environmental stress, a known catalyst of negative affect,
thus leading to genetic selection of the S allele within collectivistic cultures.