Sentences with phrase «alleles show»

Lineage - tracing studies of adult Prom1 (+ / C - L) mice containing the Rosa26 - YFP reporter allele showed that Prom1 (+) cells are located at the base of crypts in the small intestine, co-express Lgr5 (ref.

Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedigrees carrying clear loss - of - function alleles showed the presence of BAP1 - associated cancers such as renal cell carcinoma, mesothelioma and meningioma, but not uveal melanoma.

However, for infants reared under more stressful conditions (e.g., peer - reared), compared with those homozygous for the l allele, infants with the s allele show increased emotional distress, elevated hypothalamic pituitary adrenal axis response to stress, and reduced basal serotonergic functioning (20 — 22).

Not exact matches

What the figure shows is that in small populations, genetic diversity is rapidly lost, that is, gene variants (i.e. alleles) become «fixed.»

I would note, the simulation with the lowest population of n = 20 shows a 70 % allele fixation rate.

The following image shows how population sizes affect this rate of allele fixation and as you can see, as the population gets smaller, the rate of allele fixation increases exponentially.

Within three weeks, they had collected the data that would fuel a series of landmark papers showing that the APOE4 allele is associated with a greatly increased risk of Alzheimer's disease.

Kwon adds that many, but not all, controllers show an enriched presence of multiple copies of these alleles.

Again, the increased activity in these areas was associated with the number of copies of the A allele carried by individuals — people with two copies showed a larger increase in activity than those with just one.

The brain scans also showed that the A allele was associated with increased activity in the lateral and medial prefrontal cortex, regions that belong to a network involved in the encoding of emotional memories.

«Our findings show that a specific genetic marker (known as allele * 2 of the HS1, 2 A enhancer region) influences not just disease activity in RA patients, but also response to therapy in the early stages of their disease,» said lead investigator Dr Gabriele Di Sante of the Institute of Rheumatology and Related Sciences, Catholic University of the Sacred Heart, Rome, Italy.

The research by scientists at Children's Hospital Los Angeles and Columbia University shows a link between a particular allele for serotonin found at a higher frequency in those at risk of depression because of family history, and those who go on to develop major depressive disorder.

The alleles associated with light pigmentation swept to near fixation outside of Africa due to positive selection, and we show that these lineages coalesce ~ 60 ka, corresponding with the time of migration of modern humans out of Africa.

We show that both dark and light pigmentation alleles arose before the origin of modern humans and that both light and dark pigmented skin has continued to evolve throughout hominid history.

Worldwide map shows frequency of an adaptive allele to a vegetarian diet.

The study's results suggested that girls whose brains showed less reward system activation to foods also gained more weight — if they had the DRD2 Taq1AQ1 or the DRD4 7 + repeat alleles.

Their work, which is published in Nature Ecology and Evolution, shows for the first time the existence in Leishmania of a relation between changes in chromosome copy number and the selection of new alleles important for parasite survival.

As it turns out, despite the initial skepticism about the importance of gene flow, modern empirical and theoretical research using up - to - date molecular and DNA techniques have shown us not only how surprisingly far the flow of genes between distant plant populations can be, but also that the flow of alleles among populations is just as important, if not more so in some cases, as natural selection.

But human leukocyte antigens — a group of genes that encode proteins essential to the human immune system — in the samples showed that a few individuals had a type, or allele, found among only Native Americans.

A naturally occurring variant in a different gene, the so - called APOE2 allele, has been previously shown to protect against Alzheimer's disease, but Stefansson says the new variant, while rarer, confers much greater protection.

As shown in Table 1, the presence of one or two Mstn mutant alleles in combination with the F66 transgene resulted in increasingly more muscle mass than seen in F66 transgenic mice that were wild type for Mstn.

An increasing body of work shows that similarly complex aneuploidy variations play a role in some forms of cancer and we think that the rapid accumulation of NGS genomics data combined with novel in - silico techniques - like the ones developed in our study - will soon lead to a better understanding of the relationships between aneuploidy and allele selection».

Our approach differs from that adopted by Charlesworth [61], [62], who developed mathematical models to formalize the mutation accumulation hypothesis [63] that, together with the antagonistic pleiotropy hypothesis [3], [64], may be used to show how senescence can evolve by the accumulation of deleterious alleles through mutation - selection balance at frequencies that increase with their age of onset; such mutations enhance reproductive performance early in life but diminish survival late in life through physiological trade - offs.

Altogether, the haplotypes of the three ancient samples were classified as either dog or wolf - like for 18 matrices that showed clear distinction between dog and wild canid haplotypes based on average reference allele counts calculated per window.

«Their duplicated hybrid genome architectures provide these nematodes with multi-copy genes showing diverged sequence and expression patterns where their sexual relatives have very closely related alleles,» says Danchin.

The x-axis shows mtDNA position and alleles while the y - axis shows symptom scores and is labelled with descriptions.

By combining SNP - targeting allele - specific silencing and gain - of - function approaches, we showed that a 46 - glutamine expansion in human HTT was sufficient for a dominant - negative effect on spindle orientation and changes in the distribution within the spindle pole and the cell cortex of dynein, p150Glued and NuMA in neural cells.

This showed all markers as C57BL / 6J allele - type - the only exceptions being the closest markers flanking the targeted Gad2 locus were segregating with the Gad2 - IRES - Cre allele (i.e., heterozygous for C57BL / 6J; 129 allele - type).

Both experiments showed that the wild - type allele had greater DNA - binding capacity, and drove higher expression of the reporter gene.

Results of this study has shown that there is a significant inter-population variability, as far as pharmacogenomic biomarker allele frequency is concerned, which has a direct impact on the rationalization of drug use at a population level.

We study naturally - occurring mutations in prohormone convertases which are associated with obesity, and have shown that inactivating mutations can lead to dominant - negative effects on peptide hormone biology in mice bearing only one mutant allele.

The graph shows the global frequency pattern of an allele adaptive to vegetarian diets.

About half of these genes are imprinted in all the tissues where they are expressed, but several genes show tissue - specificity of imprinting by being expressed from both alleles in some tissues.

Furthermore, sex - specific differences in gene polymorphism are suggested by one study showing that diabetic women carrying ACE D allele have a higher risk for development of diabetic nephropathy, which was not seen in diabetic men (Table 2)(331).

We disregarded CGG10023, due to insufficient genome coverage and high error rate, and Twilight, which represents the Thoroughbred horse used for generating the EquCab2.0 assembly and is therefore expected to show a strong deficit of derived alleles.

This approach revealed coat color variation as one early result of domestication, by showing that the selection of multiple alleles driving diverse coloration patterns was already ongoing in the Early Bronze Age (14).

Previous work had shown that mutating Gcn5p can partially rescue the effects of the G44S allele.

This conclusion is reinforced by the findings of Buller et al. (J: 8497), who showed that the Rmcfr allele contains an endogenous MCF gp70 env gene and that the Rmcfs allele, at least in some strains (C57BL / 6, CBA / J, and A / WySn), contains a xenotropic gp70 env gene.

Here, using an inducible Cre, nuclear LacZ reporter allele knocked into the Prom1 locus (Prom1 (C - L)-RRB-, we show that Prom1 is expressed in a variety of developing and adult tissues.

This plot shows the distribution of mate pairs that support reference allele for MEI events detected by the 1000 Genomes Project that were also detected in the sequenced genome.

We did not find significant differences or deviations in a consistent direction in the frequency of derived alleles in islands of divergence within O. c. cuniculus or in either subspecies when defining differentiation based on the proportion of fixed differences versus shared polymorphisms (Figure 3); however, intervals of high FST in O. c. algirus did show a significant skew towards high frequency derived alleles.

After a study last year on Gulf War veterans showed a certain allele may prevent brain atrophy, University researchers wanted to extend the research to the general population.

(J) A combination of other psq alleles besides psqrum also produces embryos showing terminal defects in addition to a lack of most abdominal segments.

A) Histogram of FST values for all SNPs and SNPs showing a minor allele frequency (MAF) of 10 %.

Note that the loci represented are biased towards loci previously ascertained to show sharp allele frequency differences between both ends of the subspecies distributions, and even for some of these we are able to detect introgressed alleles.

Count of each allele is shown at right.

The sizes of the deletions (−) and insertions (+) are shown to the right of each allele.

Now a research team led by Broad Institute Imaging Platform director Anne Carpenter and postdoctoral fellow Mohammad Rohban has shown that a high - throughput, computerized imaging technique for studying morphology, called Cell Painting, can provide insight into the cellular roles of genes or disease - linked gene alleles whose function or impact is unknown.

Of the 2,477 somatic coding mutations with good coverage by both WGS and RNA - seq, 486 (20 %) showed showed allele - specific expression.

The acquisition of growth signal self - sufficiency is one of the hallmarks of cancer.28 In this paper, we show that a broad spectrum of spontaneous mutations in one of the endogenous JAK1 alleles is the main mechanism that confers to BaF3 cells cytokine - independent growth capability in vitro and full tumorigenicity in vivo (Online Supplementary Figure S5), secondary to the upregulation of the JAK1 transcript.