Interestingly, Human DNA gains and losses and mouse DNA losses all occurred
near genes involved in fundamental cellular / metabolic processes.
His team found a
variant near the gene associated with earlier breast development in girls and, in boys, earlier voice - breaking.
They ended up choosing two: a deleted region
near a gene for male hormone response and a region close to a gene involved in brain development.
People born to mothers who had the prenatal disorder were more likely to have certain DNA variations
near a gene known to influence blood vessels.
Just a few months ago, I reviewed a paper demonstrating that regulatory
variation near genes predicts gene dosage sensitivity.
Many of the regions are
near genes known to be involved in brain development and function.
The variant lies
near a gene called telomerase RNA component, or TERC, and earlier studies in animals have shown that low TERC expression is associated with shorter telomeres, and faster biological aging.
Although the teams took very different approaches to solve the mystery of how those limbs vanished, both came up with similar results: Mutations in DNA
located near a gene key to limb formation keep that gene from ever turning on, they report today.
The cells, or clones, that multiplied in these CGD patients had gene insertions in three
locations near genes involved in cell proliferation.
One was key because it
lies near the gene SIRT1, which is important for the energy - producing parts of cells called mitochondria.
Faeders and satellites both harbour
mutations near a gene that breaks down testosterone, and Andersson speculates that an overactive version of this gene explains why faeders and satellites are not aggressively territorial.
Across hundreds of thousands of single letter differences peppered across the human genome, all four research teams found genetic variations
near the gene LIN28B associated with earlier or later first periods.
The researchers found, for example, that extraversion was associated with variants in the gene WSCD2 and
near gene PCDH15; neuroticism was associated with variants on chromosome 8p23.1 and gene L3MBTL2.
Other proteins, called transcription factors, interact with the genes more directly: They bind to landing sites
situated near the gene under their control.
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.
Of particular interest was that four of the 10 sites most strongly linked to the AOSI scores were located
near genes linked to Prader - Willi syndrome, a genetic disorder that shares some behavioral symptoms with autism.
For example, domestication had seemingly altered 13
places near a gene called SOX2, which helps maintain cells destined to become part of the nervous system.
Further analysis showed that wild type HIV - 1 tends to integrate itself into or
near genes affecting CD4 + T cell activation and metabolism more frequently than does the mutant strain.
Several different variants are all uniquely associated with
pigmentation near these genes, and variants in these genes have been associated with pigmentation in animals.
In this paper, we report that HIV - 1 prefers to integrate into
o near genes that control such changes in CD4 + T cells so that the virus is better able to remain coupled to the CD4 + T cell status.
A significant association was identified in OCD
patients near a gene called protein tyrosine phosphokinase (PTPRD).
Often, the methyl groups were
missing near genes involved in metabolism that may play a role in obesity and diabetes.
They found CAD - related SNPs in or
near genes governing such functions as stickiness of cells, coagulation and inflammation, and the differentiation of smooth muscle cells.
However, for some mouse DNA losses the case may be different, as in the mm10 genomic background they mostly
occurred near genes involved in developmental processes.
As reported today in Nature, the team deleted ten limb
enhancers near genes essential for limb development.
Stewart discovered that the histone modifications that poise embryonic stem cell - specific genes for activation are also found on the
histones near genes involved in regeneration, putting them into a ready - to - go state.
The other finding was of a variant
near genes for several so - called semaphorins, proteins that guide developing nerve cells as they grow toward their final targets.
The strongest candidate was HARE5 for its chromosomal
location near a gene called Frizzled 8, which is part of a well - known molecular pathway implicated in brain development and disease.
Although they have not been implicated directly in pancreatic function, genomewide association studies have linked the presence of a
mutation near the genes to an impaired ability to properly manage fasting blood - glucose levels.
Three of these loci are
located near genes known to be involved in bone mineral density, and one, 13q14, is close to a gene known as RANKL which is already being used as target for drug development by a major pharmaceutical company.
Several of these sites are located in or
near genes known to be involved in brain development.
The genetic dragnet, reported online today in PLoS Genetics, yielded telltale
variants near genes involved in several of the brain's chemical messenger systems, including the receptor for thyrotropin - releasing hormone, which is significant because pygmies do not seem to develop thyroid problems, such as goiter, that typically occur in the iodine - deficient areas where they live.
These genetic variations were found in regions of the DNA that were
near genes involved in Parkinson's disease and other brain disorders.
The group's initial screen turned up 106 candidates, six of
them near genes that are believed to be involved in brain development.
McRae and colleagues found that the genetic variants associated all lie in or
near genes that encode so - called odorant or olfactory receptors.
The study adds to evidence that gene editing may need to be adapted to each patient's genome, to ensure there aren't variants in DNA sequence in or
near the gene being targeted that would throw off the technology.
But when SNPs occur within a gene or in a regulatory region
near a gene, they may play a more active role in disease by affecting the gene's function.
He and Duke graduate student Lomax Boyd scanned the genomic databases and combed the scientific literature for enhancers that were different between humans and chimps and that were
near genes that play a role in the brain.
Many cluster around sets of genes associated with growth, including 21 variants found in or
near genes that regulate the building of bone.
Subsequent tests revealed that the retrovirus used to ferry the corrective gene into the DNA of blood - making cells in the bone marrow had lodged in or
near a gene that regulates T cells, possibly prompting their uncontrolled growth.
One surprising finding from the study co-led by Johns Hopkins, Ehret says, was that many of the new sites identified were
near genes that are active in cells that line the inside of blood vessels, suggesting those cells are somehow involved directly in blood pressure control.
The other big hit, the team reports in the journal PLoS Genetics, was a variant
near a gene called AHR, which regulates how CYP1A2 is expressed.
It's so easy to take a GWAS hit, look for
the nearest gene, and spin a story about how variation in that gene affects the phenotype of interest.
Global DNA methylation in human adipose tissue of nondiabetic and T2D co-twins is shown for
the nearest gene regions (A) and CpG island regions (B).
Someone on the Twitter feed rightfully reminded us that GWAS hits should generally not be reported along with the «
nearest gene» — a trend that tends to pollute the scientific literature.