559 research outputs found
Postcopulatory sexual selection
The female reproductive tract is where competition between the sperm of different males takes place, aided and abetted by the female herself. Intense postcopulatory sexual selection fosters inter-sexual conflict and drives rapid evolutionary change to generate a startling diversity of morphological, behavioural and physiological adaptations. We identify three main issues that should be resolved to advance our understanding of postcopulatory sexual selection. We need to determine the genetic basis of different male fertility traits and female traits that mediate sperm selection; identify the genes or genomic regions that control these traits; and establish the coevolutionary trajectory of sexes
Mapping transcription mechanisms from multimodal genomic data
Background
Identification of expression quantitative trait loci (eQTLs) is an emerging area in genomic study. The task requires an integrated analysis of genome-wide single nucleotide polymorphism (SNP) data and gene expression data, raising a new computational challenge due to the tremendous size of data.
Results
We develop a method to identify eQTLs. The method represents eQTLs as information flux between genetic variants and transcripts. We use information theory to simultaneously interrogate SNP and gene expression data, resulting in a Transcriptional Information Map (TIM) which captures the network of transcriptional information that links genetic variations, gene expression and regulatory mechanisms. These maps are able to identify both cis- and trans- regulating eQTLs. The application on a dataset of leukemia patients identifies eQTLs in the regions of the GART, PCP4, DSCAM, and RIPK4 genes that regulate ADAMTS1, a known leukemia correlate.
Conclusions
The information theory approach presented in this paper is able to infer the dependence networks between SNPs and transcripts, which in turn can identify cis- and trans-eQTLs. The application of our method to the leukemia study explains how genetic variants and gene expression are linked to leukemia.National Human Genome Research Institute (U.S.) (R01HG003354)National Institute of Allergy and Infectious Diseases (U.S.) (U19 AI067854-05)National Heart, Lung, and Blood Institute (grant T32 HL007427-28)National Institutes of Health (U.S.) (grant K99 LM009826
Visualization of grapevine root colonization by the Saharan soil isolate Saccharothrix algeriensis NRRL B-24137 using DOPE-FISH microscopy
Background and aim There is currently a gap of
knowledge regarding whether some beneficial bacteria
isolated from desert soils can colonize epi- and
endophytically plants of temperate regions. In this
study, the early steps of the colonization process of
one of these bacteria, Saccharothrix algeriensis NRRL
B-24137, was studied on grapevine roots to determine
if this beneficial strain can colonize a non-natural host
plant. An improved method of fluorescence in situ
hybridization (FISH), the double labeling of oligonucleotide
probes (DOPE)-FISH technique was used to
visualize the colonization behavior of such bacteria as well as to determine if the method could be used to
track microbes on and inside plants.
Methods A probe specific to Saccharothrix spp. was
firstly designed. Visualization of the colonization behavior
of S. algeriensis NRRL B-24137 on and inside
roots of grapevine plants was then carried out with
DOPE-FISH microscopy.
Results The results showed that 10 days after inoculation,
the strain could colonize the root hair zone, root
elongation zone, as well as root emergence sites by
establishing different forms of bacterial structures as
revealed by the DOPE-FISH technique. Further observations
showed that the strain could be also endophytic
inside the endorhiza of grapevine plants.
Conclusions Taking into account the natural niches of
this beneficial strain, this study exemplifies that, in
spite of its isolation from desert soil, the strain can
establish populations as well as subpopulations on and
inside grapevine plants and that the DOPE-FISH tool
can allow to detect it
Postretinal Detachment Retinal Displacement: How Best to Detect It?
PURPOSE: The reported incidence of postretinal detachment (RD) macular displacement varies markedly (14-72%). This may in part be due to the imaging modalities used. We compared the ability of 2 types of fundus autofluorescence (FAF) imaging modalities to detect this phenomenon. METHODS: Prospective study of 70 eyes with macula-involving RDs. 8 weeks postoperatively, patients underwent FAF imaging with 2 machines: a confocal scanning laser ophthalmoscope (cSLO) and a digital fundus camera (FC). Images were graded for the presence of hyperautofluorescent RPE (retinal pigment epithelium) ghost vessels, indicative of retinal displacement, by 2 masked, independent graders. RESULTS: In total, 87.1% of FC images were gradable versus 88.6% of cSLO images. Retinal displacement was detectable in 61.4% of FC images versus 52.8% of cSLO images. Vessel shift often appeared more autofluorescent on FC imaging, but choroidal vessels were more visible. Cohen's agreement between the imaging modalities was 0.50, rated as moderate agreement. For both imaging modalities, the inter- and intragrader agreement was substantial, representing good test-retest reliability. CONCLUSIONS: Detection of post-RD retinal displacement was similar between FC and cSLO FAF imaging, with only moderate agreement between both modalities
Macular Pigment Distribution as Prognostic Marker for Disease Progression in Macular Telangiectasia Type 2
PURPOSE
To evaluate macular pigment distribution pattern as a prognostic marker for disease progression in patients with macular telangiectasia type 2 (MacTel).
DESIGN
Retrospective cohort study.
METHODS
In this single-center study, 90 eyes of 47 patients were analyzed. Macular pigment optical density (MPOD) was measured with dual-wavelength fundus autofluorescence. Eyes were graded into MPOD distribution classes 1 to 3 with increasing loss of macular pigment and grading was performed masked by 2 independent graders. Best-corrected visual acuity, reading acuity, total scotoma size in fundus-controlled perimetry (microperimetry), and break of the ellipsoid zone (EZ) in optical coherence tomography (en face measurement) were defined as functional and morphologic outcome parameters and evaluated at baseline and after 60 months.
RESULTS
After a mean review period of 59.6 months (±standard deviation 5.2 months), no change between MPOD classes was observed compared to baseline. Morphologic and functional deficits were limited to the area of MPOD loss. At last follow-up, a significant mean decrease of visual acuity and reading acuity as well as a significant mean increase of scotoma size and EZ break were observed in eyes assigned to MPOD classes 2 and 3, while outcome parameters remained stable in eyes of class 1.
CONCLUSIONS
The results indicate that MPOD and its distribution may serve as a prognostic marker for disease progression and functional impairment in patients with MacTel
Population genomics of sub-Saharan Drosophila melanogaster: African diversity and non-African admixture
(ABRIDGED) We report the genome sequencing of 139 wild-derived strains of D.
melanogaster, representing 22 population samples from the sub-Saharan ancestral
range of this species, along with one European population. Most genomes were
sequenced above 25X depth from haploid embryos. Results indicated a pervasive
influence of non-African admixture in many African populations, motivating the
development and application of a novel admixture detection method. Admixture
proportions varied among populations, with greater admixture in urban
locations. Admixture levels also varied across the genome, with localized peaks
and valleys suggestive of a non-neutral introgression process. Genomes from the
same location differed starkly in ancestry, suggesting that isolation
mechanisms may exist within African populations. After removing putatively
admixed genomic segments, the greatest genetic diversity was observed in
southern Africa (e.g. Zambia), while diversity in other populations was largely
consistent with a geographic expansion from this potentially ancestral region.
The European population showed different levels of diversity reduction on each
chromosome arm, and some African populations displayed chromosome arm-specific
diversity reductions. Inversions in the European sample were associated with
strong elevations in diversity across chromosome arms. Genomic scans were
conducted to identify loci that may represent targets of positive selection. A
disproportionate number of candidate selective sweep regions were located near
genes with varied roles in gene regulation. Outliers for Europe-Africa FST were
found to be enriched in genomic regions of locally elevated cosmopolitan
admixture, possibly reflecting a role for some of these loci in driving the
introgression of non-African alleles into African populations
Quantification of Retinal and Choriocapillaris Perfusion in Different Stages of Macular Telangiectasia Type 2
Purpose: To quantify the retinal and choriocapillaris perfusion in different disease stages of macular telangiectasia type 2 (MacTel) using optical coherence tomography-angiography (OCT-A). /
Methods: We examined 76 eyes of 76 patients and 24 eyes of 24 age-related controls. Participants underwent multimodal imaging, including OCT and OCT-A. Patients' eyes were divided into three groups considering predefined criteria from funduscopy, OCT, and fluorescein angiography, thus reflecting the disease severity (“early,” “advanced,” and “neovascular”). Quantitative analyses of vessel density (VD), skeleton density (SD), and fractal dimension (FD) were conducted in the superficial and deep retinal plexus and in the avascular layer. The choriocapillaris was analyzed for mean signal intensity and percentage of nondetectable perfused choriocapillaris-area (PNPA). /
Results: The deep retinal plexus showed a progressive decrease of mean VD, SD, and FD in the temporal parafovea in all disease stages. In the superficial layer, VD, SD, and FD were significantly decreased in the temporal parafovea of advanced and neovascular stages, while these parameters did not differ from controls in early stages. In MacTel, signals of blood flow were also detectable at the level of the avascular layer and showed a significant increase with disease progression. The choriocapillaris in MacTel showed a significant increase of mean PNPA and a decrease of mean signal intensity in comparison to controls. These findings were consistent in all disease stages. /
Conclusions: Quantitative OCT-A data show a progressive rarefication of the retinal microvasculature in MacTel. We propose an altered choriocapillaris perfusion as a possibly early alteration of the disease
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