Maternal Expression Relaxes Constraint on Innovation of the Anterior Determinant, bicoid

The origin of evolutionary novelty is believed to involve both positive selection and relaxed developmental constraint. In flies, the redesign of anterior patterning during embryogenesis is a major developmental innovation and the rapidly evolving Hox gene, bicoid (bcd), plays a critical role. We report evidence for relaxation of selective constraint acting on bicoid as a result of its maternal pattern of gene expression. Evolutionary theory predicts 2-fold greater sequence diversity for maternal effect genes than for zygotically expressed genes, because natural selection is only half as effective acting on autosomal genes expressed in one sex as it is on genes expressed in both sexes. We sample an individual from ten populations of Drosophila melanogaster and nine populations of D. simulans for polymorphism in the tandem gene duplicates bcd, which is maternally expressed, and zerknüllt (zen), which is zygotically expressed. In both species, we find the ratio of bcd to zen nucleotide diversity to be two or more in the coding regions but one in the noncoding regions, providing the first quantitative support for the theoretical prediction of relaxed selective constraint on maternal-effect genes resulting from sex-limited expression. Our results suggest that the accelerated rate of evolution observed for bcd is owing, at least partly, to variation generated by relaxed selective constraint

An analysis of ultraviolet spectra of Extreme Helium Stars and new clues to their origins

Abundances of about 18 elements including the heavy elements Y and Zr are determined from Hubble Space Telescope Space Telescope Imaging Spectrograph ultraviolet spectra of seven extreme helium stars (EHes): LSE 78, BD+10 2179, V1920 Cyg, HD 124448, PV Tel, LS IV -1 2, and FQ Aqr. New optical spectra of the three stars -- BD+10 2179, V1920 Cyg, and HD 124448 were analysed. The abundance analyses is done using LTE line formation and LTE model atmospheres especially constructed for these EHe stars. The stellar parameters derived from an EHe's UV spectrum are in satisfactory agreement with those derived from its optical spectrum. Adopted abundances for the seven EHes are from a combination of the UV and optical analyses. Published results for an additional ten EHes provide abundances obtained in a nearly uniform manner for a total of 17 EHes, the largest sample on record. The initial metallicity of an EHe is indicated by the abundance of elements from Al to Ni; Fe is adopted to be the representative of initial metallicity. Iron abundances range from approximately solar to about one-hundredth of solar. Clues to EHe evolution are contained within the H, He, C, N, O, Y, and Zr abundances. Two novel results are (i) the O abundance for some stars is close to the predicted initial abundance yet the N abundance indicates almost complete conversion of initial C, N, and O to N by the CNO-cycles; (ii) three of the seven stars with UV spectra show a strong enhancement of Y and Zr attributable to an s-process. The observed compositions are discussed in light of expectations from accretion of a He white dwarf by a CO white dwarf.Comment: 126 pages, 15 figures, 20 Tables, accepted for publication in the Ap

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutationinexon2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome

Subaru and Swift observations of V652 Herculis: resolving the photospheric pulsation

High-resolution spectroscopy with the Subaru High Dispersion Spectrograph, and Swift ultraviolet photometry are presented for the pulsating extreme helium star V652 Her. Swift provides the best relative ultraviolet photometry obtained to date, but shows no direct evidence for a shock at ultraviolet or X-ray wavelengths. Subaru has provided high spectral and high temporal resolution spectroscopy over six pulsation cycles (and eight radius minima). These data have enabled a line-by-line analysis of the entire pulsation cycle and provided a description of the pulsating photosphere as a function of optical depth. They show that the photosphere is compressed radially by a factor of at least 2 at minimum radius, that the phase of radius minimum is a function of optical depth and the pulse speed through the photosphere is between 141 and 239 km s−1 (depending how measured) and at least 10 times the local sound speed. The strong acceleration at minimum radius is demonstrated in individual line profiles; those formed deepest in the photosphere show a jump discontinuity of over 70 kms−1 on a time-scale of 150 s. The pulse speed and line profile jumps imply a shock is present at minimum radius. These empirical results provide input for hydrodynamical modelling of the pulsation and hydrodynamical plus radiative transfer modelling of the dynamical spectra

KIC 10449976: discovery of an extreme-helium subdwarf in the Kepler field

Optical spectroscopy of the blue star KIC 10449976 shows that it is an extremely helium-rich subdwarf with effective temperature T=40000+/-300 K and surface gravity log g=5.3+/-0.1. Radial-velocity measurements over a five-day timescale show an upper variability limit of ~50+/-20 km/s. Kepler photometry of KIC 10449976 in both long and short cadence modes shows evidence for a periodic modulation on a timescale of ~3.9 days. We have examined the possibility that this modulation is not astrophysical but conclude it is most likely real. We discuss whether the modulation could be caused by a low-mass companion, by stellar pulsations, or by spots. The identification of any one of these as cause has important consequences for understanding the origin of helium-rich subdwarfs.Comment: Accepted by MNRA

Contextualizing women’s agency in marital negotiations:Muslim and Hindu women in Karnataka, India

We use 36 in-depth interviews, with 18 Muslim and 18 Hindu women in Karnataka, India, to explore the relationships between women’s educational attainments and women’s exercise of agency in spousal selection and the timing of marriage. We have outlined three kinds of agency, namely, convinced, resistance, and complicit, and the contexts in which they were deployed by our participants during their marriage negotiations. Our examination of the role of education across this spectrum of agential capacities during marriage negotiations suggests that the linkages between education and agency are not straightforward. Rather, the normative context, and how parents and daughters interact with it when fixing marriages, makes the use of agency by the woman and by their parents much more complicated than standard narratives that claim that “modern” education for girls will inevitably enable women to play decisive roles in realizing their personal preferences. Our data lead us to challenge this framework and we argue that the link between education and agency is not always positive and linear, as it widely thought to be

Assessing Subjectivity in Environmental Sensor Data Post Processing via a Controlled Experiment

Collection of high resolution, in situ data using environmental sensors is common in hydrology and other environmental science domains. Sensors are subject to drift, fouling, and other factors that can affect the quality of the measurements and their subsequent use for scientific analyses. The process by which sensor data are reviewed to verify validity often requires making edits in post processing to generate approved datasets. This quality control process involves decisions by technicians, data managers, or data users on how to handle problematic data. In this study, an experiment was designed and conducted where multiple participants performed quality control post processing on the same datasets using consistent guidelines and tools to assess the effect of individual technician on the resulting datasets. The effect of technician experience and training was also assessed by conducting the same procedures with a group of novices unfamiliar with the data and compared results to those generated by a group of experienced technicians. Results showed greater variability between outcomes for experienced participants, which we attribute to novice participants\u27 reluctance to implement unfamiliar procedures that change data. The greatest variability between participants\u27 results was associated with calibration events for which users selected different methods and values by which to shift results. These corrections resulted in variability exceeding the range of manufacturer-reported sensor accuracy. To reduce quality control subjectivity and variability, we recommend that monitoring networks establish detailed quality control guidelines and consider a collaborative approach to quality control in which multiple technicians evaluate datasets prior to publication

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital. Methods: Linkage analysis was used to determine a locus, and exome sequencing was employed to look for causative variants. Results: Linkage analysis revealed cosegregation of a 16.1 Mb haplotype on chromosome 1q42 that contained 173 known or predicted genes. Whole exome sequencing in a single affected individual was undertaken, and the search for the causative variant was focused to within the linkage interval. This approach revealed two novel non-synonymous single nucleotide substitutions within the chromosome 1 locus, in NVL and GJC2. NVL and GJC2 were sequenced in an additional cohort of individuals with a similar phenotype and non-synonymous variants were found in GJC2 in four additional families. Conclusion: This report demonstrates the power of exome sequencing efficiently applied to a traditional positional cloning pipeline in disease gene discovery, and suggests that the phenotype produced by GJC2 mutations is predominantly one of 4 limb lymphoedema

Mode identification from monochromatic amplitude and phase variations for the rapidly pulsating subdwarf B star EC 20338-1925

We obtain time-series spectrophotometry observations at the VLT with the aim of partially identifying the dominant oscillation modes in the rapidly pulsating subdwarf B star EC 20338-1925 on the basis of monochromatic amplitude and phase variations. From the data gathered, we detect four previously known pulsations with periods near 147, 168, 126 and 140 s and amplitudes between 0.2 and 2.3 % of the star's mean brightness. We also determine the atmospheric parameters of EC 20338-1925 by fitting our non-LTE model atmospheres to an averaged combined spectrum. The inferred parameters are Teff = 34,153+-94 K, log g =5.966+-0.017 and log[N(He)/N(H)] = - 1.642+-0.022, where the uncertainty estimates quoted refer to the formal fitting errors. Finally, we calculate the observed monochromatic amplitudes and phases for the periodicities extracted using least-squares fitting to the light curves obtained for each wavelength bin. These observed quantities are then compared to the corresponding theoretical values computed on the basis of dedicated model atmosphere codes and also taking into account non-adiabatic effects. We find that the quality of the data is sufficient to identify the dominant pulsation at 146.9 s as a radial mode, while two of the lower amplitude periodicities must be low-degree modes with l=0-2. This is the first time that monochromatic amplitudes and phases have been used for mode identification in a subdwarf B star, and the results are highly encouraging.Comment: 11 pages. Accepted for publication in Astronomy & Astrophysic

Watching synchronous mitochondrial respiration in the retina and its instability in a mouse model of macular degeneration

MMitochondrial function declines with age and in some diseases, but we have been unable to analyze this in vivo. Here, we optically examine retinal mitochondrial function as well as choroidal oxygenation and hemodynamics in aging C57 and complement factor H (CFH−/−) mice, proposed models of macular degeneration which suffer early retinal mitochondrial decline. In young C57s mitochondrial populations respire in coupled oscillatory behavior in cycles of ~ 8 min, which is phase linked to choroidal oscillatory hemodynamics. In aging C57s, the oscillations are less regular being ~ 14 min and more dissociated from choroidal hemodynamics. The mitochondrial oscillatory cycles are extended in CFH−/− mice being ~ 16 min and are further dissociated from choroidal hemodynamics. Mitochondrial decline occurs before age-related changes to choroidal vasculature, hence, is the likely origin of oscillatory disruption in hemodynamics. This technology offers a non-invasive technique to detect early retinal disease and its relationship to blood oxygenation in vivo and in real time