Fine-Scale mapping of the 11q13 breast cancer susceptibility locus

The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799–121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000–120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Perallelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed was with the original identified index SNP rs11249433 (minor allele frequency (MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08–1.13, $\small \textit{P}$ = 1.49 x 10$^{-21}$). The association for rs11249433 was limited to ER-positive breast cancers (test for heterogeneity $\small \textit{P}$ $\leq$ 8.41 x 10$^{-5}$). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed that rs11249433 was located in a region that is likely a weak enhancer/promoter. Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this region to be limited to risk to cancers that are ER-positive.Cancer Research UK (Grant IDs: C1287/A10118, C1287/A12014, C490/A10124, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), European Community's Seventh Framework Programme (Grant ID: HEALTH-F2-2009-223175), National Institutes of Health (Grant IDs: CA128978, CA116167, CA176785, CA116201, CA63464, CA54281, CA098758, CA132839, R01CA100374, R01CA64277, R01CA148667, R37CA70867, R01CA092447), National Institute for Health Research. See also Table K via http://dx.doi.org/10.1371/journal.pone.0160316.s003This is the final version of the article. It first appeared from the Public Library of Science via http://dx.doi.org/10.1371/journal.pone.016031

Deceptive body movements reverse spatial cueing in soccer

This article has been made available through the Brunel Open Access Publishing Fund.The purpose of the experiments was to analyse the spatial cueing effects of the movements of soccer players executing normal and deceptive (step-over) turns with the ball. Stimuli comprised normal resolution or point-light video clips of soccer players dribbling a football towards the observer then turning right or left with the ball. Clips were curtailed before or on the turn (-160, -80, 0 or +80 ms) to examine the time course of direction prediction and spatial cueing effects. Participants were divided into higher-skilled (HS) and lower-skilled (LS) groups according to soccer experience. In experiment 1, accuracy on full video clips was higher than on point-light but results followed the same overall pattern. Both HS and LS groups correctly identified direction on normal moves at all occlusion levels. For deceptive moves, LS participants were significantly worse than chance and HS participants were somewhat more accurate but nevertheless substantially impaired. In experiment 2, point-light clips were used to cue a lateral target. HS and LS groups showed faster reaction times to targets that were congruent with the direction of normal turns, and to targets incongruent with the direction of deceptive turns. The reversed cueing by deceptive moves coincided with earlier kinematic events than cueing by normal moves. It is concluded that the body kinematics of soccer players generate spatial cueing effects when viewed from an opponent's perspective. This could create a reaction time advantage when anticipating the direction of a normal move. A deceptive move is designed to turn this cueing advantage into a disadvantage. Acting on the basis of advance information, the presence of deceptive moves primes responses in the wrong direction, which may be only partly mitigated by delaying a response until veridical cues emerge

Modulating attentional load affects numerosity estimation: evidence against a pre-attentive subitizing mechanism

Traditionally, the visual enumeration of a small number of items (1 to about 4), referred to as subitizing, has been thought of as a parallel and pre-attentive process and functionally different from the serial attentive enumeration of larger numerosities. We tested this hypothesis by employing a dual task paradigm that systematically manipulated the attentional resources available to an enumeration task. Enumeration accuracy for small numerosities was severely decreased as more attentional resources were taken away from the numerical task, challenging the traditionally held notion of subitizing as a pre-attentive, capacity-independent process. Judgement of larger numerosities was also affected by dual task conditions and attentional load. These results challenge the proposal that small numerosities are enumerated by a mechanism separate from large numerosities and support the idea of a single, attention-demanding enumeration mechanism

Galaxy And Mass Assembly (GAMA): the unimodal nature of the dwarf galaxy population

In this paper we aim to (i) test the number of statistically distinct classes required to classify the local galaxy population, and, (ii) identify the differences in the physical and star formation properties of visually-distinct galaxies. To accomplish this, we analyse the structural parameters (effective radius (Reff ), effective surface brightness within Reff (hμie), central surface brightness (μ0), and S´ersic index (n)), obtained by fitting the light profile of 432 galaxies (0.002 < z 6 0.02; Viking Z-band), and their spectral energy distribution using multi-band photometry in 18 broadbands to obtain the stellar mass (M ), the star formation rate (SFR), the specific SFR (sSFR) and the dust mass (Mdust), respectively. We show that visually distinct, star-forming dwarf galaxies (irregulars, blue spheroids and low surface brightness galaxies) form a unimodal population in a parameter space mapped by hμie, μ0, n, Reff , SFR, sSFR, M , Mdust and (g − i). The SFR and sSFR distribution of passively evolving (dwarf) ellipticals on the other hand, statistically distinguish them from other galaxies with similar luminosity, while the giant galaxies clearly segregate into starforming spirals and passive lenticulars. We therefore suggest that the morphology classification scheme(s) used in literature for dwarf galaxies only reflect the observational differences based on luminosity and surface brightness among the apparent distinct classes, rather than any physical differences between them

Galaxy And Mass Assembly (GAMA): the unimodal nature of the dwarf galaxy population

In this paper we aim to (i) test the number of statistically distinct classes required to classify the local galaxy population, and, (ii) identify the differences in the physical and star formation properties of visually-distinct galaxies. To accomplish this, we analyse the structural parameters (effective radius (Reff ), effective surface brightness within Reff (hμie), central surface brightness (μ0), and S´ersic index (n)), obtained by fitting the light profile of 432 galaxies (0.002 < z 6 0.02; Viking Z-band), and their spectral energy distribution using multi-band photometry in 18 broadbands to obtain the stellar mass (M ), the star formation rate (SFR), the specific SFR (sSFR) and the dust mass (Mdust), respectively. We show that visually distinct, star-forming dwarf galaxies (irregulars, blue spheroids and low surface brightness galaxies) form a unimodal population in a parameter space mapped by hμie, μ0, n, Reff , SFR, sSFR, M , Mdust and (g − i). The SFR and sSFR distribution of passively evolving (dwarf) ellipticals on the other hand, statistically distinguish them from other galaxies with similar luminosity, while the giant galaxies clearly segregate into starforming spirals and passive lenticulars. We therefore suggest that the morphology classification scheme(s) used in literature for dwarf galaxies only reflect the observational differences based on luminosity and surface brightness among the apparent distinct classes, rather than any physical differences between them

The prognosis of allocentric and egocentric neglect : evidence from clinical scans

We contrasted the neuroanatomical substrates of sub-acute and chronic visuospatial deficits associated with different aspects of unilateral neglect using computed tomography scans acquired as part of routine clinical diagnosis. Voxel-wise statistical analyses were conducted on a group of 160 stroke patients scanned at a sub-acute stage. Lesion-deficit relationships were assessed across the whole brain, separately for grey and white matter. We assessed lesions that were associated with behavioural performance (i) at a sub-acute stage (within 3 months of the stroke) and (ii) at a chronic stage (after 9 months post stroke). Allocentric and egocentric neglect symptoms at the sub-acute stage were associated with lesions to dissociated regions within the frontal lobe, amongst other regions. However the frontal lesions were not associated with neglect at the chronic stage. On the other hand, lesions in the angular gyrus were associated with persistent allocentric neglect. In contrast, lesions within the superior temporal gyrus extending into the supramarginal gyrus, as well as lesions within the basal ganglia and insula, were associated with persistent egocentric neglect. Damage within the temporo-parietal junction was associated with both types of neglect at the sub-acute stage and 9 months later. Furthermore, white matter disconnections resulting from damage along the superior longitudinal fasciculus were associated with both types of neglect and critically related to both sub-acute and chronic deficits. Finally, there was a significant difference in the lesion volume between patients who recovered from neglect and patients with chronic deficits. The findings presented provide evidence that (i) the lesion location and lesion size can be used to successfully predict the outcome of neglect based on clinical CT scans, (ii) lesion location alone can serve as a critical predictor for persistent neglect symptoms, (iii) wide spread lesions are associated with neglect symptoms at the sub-acute stage but only some of these are critical for predicting whether neglect will become a chronic disorder and (iv) the severity of behavioural symptoms can be a useful predictor of recovery in the absence of neuroimaging findings on clinical scans. We discuss the implications for understanding the symptoms of the neglect syndrome, the recovery of function and the use of clinical scans to predict outcome

Galaxy And Mass Assembly (GAMA): refining the local galaxy merger rate using morphological information

We use the Galaxy And Mass Assembly (GAMA) survey to measure the local Universe mass dependent merger fraction and merger rate using galaxy pairs and the CAS structural method, which identifies highly asymmetric merger candidate galaxies. Our goals are to determine which types of mergers produce highly asymmetrical galaxies, and to provide a new measurement of the local galaxy major merger rate. We examine galaxy pairs at stellar mass limits down to M∗ = 108M⊙ with mass ratios of 4:1) the lower mass companion becomes highly asymmetric, while the larger galaxy is much less affected. The fraction of highly asymmetric paired galaxies which have a major merger companion is highest for the most massive galaxies and drops progressively with decreasing mass. We calculate that the mass dependent major merger fraction is fairly constant at _ 1.3 − 2% between 109.5 < M∗ < 1011.5M⊙, and increases to _ 4% at lower masses. When the observability time scales are taken into consideration, the major merger rate is found to approximately triple over the mass range we consider. The total co-moving volume major merger rate over the range 108.0 < M∗ < 1011.5M⊙ is (1.2 ± 0.5) × 10−3 h3 70 Mpc−3 Gyr−1

Galaxy And Mass Assembly (GAMA): The absence of stellar mass segregation in galaxy groups and consistent predictions from GALFORM and EAGLE simulations

We investigate the contentious issue of the presence, or lack thereof, of satellites mass segregation in galaxy groups using the Galaxy And Mass Assembly (GAMA) survey, the GALFORM semi-analytic and the EAGLE cosmological hydrodynamical simulation catalogues of galaxy groups. We select groups with halo mass $12 \leqslant \log(M_{\text{halo}}/h^{-1}M_\odot) <14.5$ and redshift $z \leqslant 0.32$ and probe the radial distribution of stellar mass out to twice the group virial radius. All the samples are carefully constructed to be complete in stellar mass at each redshift range and efforts are made to regularise the analysis for all the data. Our study shows negligible mass segregation in galaxy group environments with absolute gradients of $\lesssim0.08$ dex and also shows a lack of any redshift evolution. Moreover, we find that our results at least for the GAMA data are robust to different halo mass and group centre estimates. Furthermore, the EAGLE data allows us to probe much fainter luminosities ($r$-band magnitude of 22) as well as investigate the three-dimensional spatial distribution with intrinsic halo properties, beyond what the current observational data can offer. In both cases we find that the fainter EAGLE data show a very mild spatial mass segregation at $z \leqslant 0.22$, which is again not apparent at higher redshift. Interestingly, our results are in contrast to some earlier findings using the Sloan Digital Sky Survey. We investigate the source of the disagreement and suggest that subtle differences between the group finding algorithms could be the root cause

Galaxy and Mass Assembly (GAMA): Accurate number densities and environments of massive ultracompact galaxies at 0.02 < z < 0.3

Massive Ultracompact Galaxies (MUGs) are common at z=2-3, but very rare in the nearby Universe. Simulations predict that the few surviving MUGs should reside in galaxy clusters, whose large relative velocities prevent them from merging, thus maintaining their original properties (namely stellar populations, masses, sizes and dynamical state). We take advantage of the high-completeness, large-area spectroscopic GAMA survey, complementing it with deeper imaging from the KiDS and VIKING surveys. We find a set of 22 bona-fide MUGs, defined as having high stellar mass (>8x10^10 M_Sun) and compact size (R_e ~ 10^10 M_Sun Kpc^-2). Interestingly, a large fraction feature close companions -- at least in projection -- suggesting that many (but not all) live in the central regions of groups. Halo masses show these galaxies inhabit average-mass groups. As MUGs are found to be almost equally distributed among environments of different masses, their relative fraction is higher in more massive overdensities, matching the expectations that some of these galaxies fell in these regions at early times. However, there must be another channel leading some of these galaxies to an abnormally low merger history because our sample shows a number of objects that do not inhabit particularly dense environments. (abridged

Visual, Motor and Attentional Influences on Proprioceptive Contributions to Perception of Hand Path Rectilinearity during Reaching

We examined how proprioceptive contributions to perception of hand path straightness are influenced by visual, motor and attentional sources of performance variability during horizontal planar reaching. Subjects held the handle of a robot that constrained goal-directed movements of the hand to the paths of controlled curvature. Subjects attempted to detect the presence of hand path curvature during both active (subject driven) and passive (robot driven) movements that either required active muscle force production or not. Subjects were less able to discriminate curved from straight paths when actively reaching for a target versus when the robot moved their hand through the same curved paths. This effect was especially evident during robot-driven movements requiring concurrent activation of lengthening but not shortening muscles. Subjects were less likely to report curvature and were more variable in reporting when movements appeared straight in a novel “visual channel” condition previously shown to block adaptive updating of motor commands in response to deviations from a straight-line hand path. Similarly, compromised performance was obtained when subjects simultaneously performed a distracting secondary task (key pressing with the contralateral hand). The effects compounded when these last two treatments were combined. It is concluded that environmental, intrinsic and attentional factors all impact the ability to detect deviations from a rectilinear hand path during goal-directed movement by decreasing proprioceptive contributions to limb state estimation. In contrast, response variability increased only in experimental conditions thought to impose additional attentional demands on the observer. Implications of these results for perception and other sensorimotor behaviors are discussed