Molecular genetic and functional analyses of X-linked congenital cataract.

Nance-Horan Syndrome (NHS) is an X-linked developmental syndrome characterised by congenital cataract, dental anomalies, and dysmorphological features often associated with mental retardation. The NHS locus on Xp22.13 is encompassed by the disease locus for X- linked congenital cataract (CXN). Analysis of microsatellites within the CXN family resulted in refinement of the CXN disease interval, reducing the region of overlap between the CXN and NHS disease loci. Candidate genes in the overlapping intervals were identified bioinformatically and their genomic structures evaluated. Patient DNA was screened by direct sequencing, resulting in the identification of mutations within a novel gene in four British families with NHS, but not the CXN family. This novel gene, named NHS, is encoded by at least 10 exons transcribed into at least five mRNA isoforms A, B, C, D, and E (encoding a putative 1,630 a.a., 1,335 a.a., 1,474 a.a., 1,453 a.a., and 1,473 a.a. protein, respectively). All mutations identified are truncating and three mutations have been identified in exon 1, which are only expressed in isoform A. This implies that mutations in isoform A are sufficient to cause disease in families with NHS. Functional clues for the NHS protein were investigated resulting in identification of three new genes with significant homology to NHS {lcub}NHS-Like 1 (NHSL1), NHSL2 and NHSL3). All four genes share a conserved genomic structure. Fetal expression analysis of NHS, NHSL1 and NHSL2 suggests that NHSL1 and NHSL2 are more ubiquitous than NHS. Analysis of the NHS family of proteins revealed significant homology to members of the WASP family, which consists of WASP, N-WASP and WAVE 1-3. The WASP protein family play a crucial role in regulating actin dynamics, directly linking small GTPase signalling to actin polymerisation through activation of the Arp2/3 complex. An anti-peptide antibody to the C-terminus of NHS, completely conserved across species, was raised and characterised. A major NHS isoform (approximately 170 kDa) was detected in several cell lines. Subcellular localisation studies in MTLn3 cells showed localization of endogenous NHS to the leading edge of lamellipodia, a localisation pattern reminiscent of the Arp2/3 complex. Endogenous NHS also localised to some actin stress fibres. Homology to the WASP protein family and localisation of endogenous NHS to the leading edge of lamellipods strongly supports a role for NHS in actin cytoskeletal dynamics during development

Supersymmetric Model of Muon Anomalous Magnetic Moment and Neutrino Masses

We propose the novel lepton-number relationship $L_\tau = L_e + L_\mu$, which is uniquely realized by the interaction $(\hat \nu_e \hat \mu - \hat e \hat \nu_\mu) \hat \tau^c$ in supersymmetry and may account for a possibly large muon anomalous magnetic moment. Neutrino masses (with bimaximal mixing) may be generated from the spontaneous and soft breaking of this lepton symmetry.Comment: 10 pages, including 2 figure

Free-boundary Full-pressure Island Healing in a Stellarator: Coil-healing

The lack of axisymmetry in stellarators guarantees that in general magnetic islands and chaotic magnetic field lines will exist. As particle transport is strongly tied to the magnetic field lines, magnetic islands and chaotic field lines result in poor plasma confinement. For stellarators to be feasible candidates for fusion power stations it is essential that, to a good approximation, the magnetic field lines lie on nested flux-surfaces, and the suppression of magnetic islands is a critical issue for stellarator coil design, particularly for small aspect ratio devices. A procedure for modifying stellarator coil designs to eliminate magnetic islands in free-boundary full-pressure magnetohydrodynamic equilibria is presented. Islands may be removed from coil-plasma free-boundary equilibria by making small changes to the coil geometry and also by variation of trim coil currents. A plasma and coil design relevant to the National Compact Stellarator Experiment is used to illustrate the technique

Measuring primordial gravitational waves from CMB B-modes in cosmologies with generalized expansion histories

We evaluate our capability to constrain the abundance of primordial tensor perturbations in cosmologies with generalized expansion histories in the epoch of cosmic acceleration. Forthcoming satellite and sub-orbital experiments probing polarization in the CMB are expected to measure the B-mode power in CMB polarization, coming from PGWs on the degree scale, as well as gravitational lensing on arcmin scales; the latter is the main competitor for the measurement of PGWs, and is directly affected by the underlying expansion history, determined by the presence of a DE component. In particular, we consider early DE possible scenarios, in which the expansion history is substantially modified at the epoch in which the CMB lensing is most relevant. We show that the introduction of a parametrized DE may induce a variation as large as 30% in the ratio of the power of lensing and PGWs on the degree scale. We find that adopting the nominal specifications of upcoming satellite measurements the constraining power on PGWs is weakened by the inclusion of the extra degrees of freedom, resulting in a reduction of about 10% of the upper limits on r in fiducial models with no GWs, as well as a comparable increase in the error bars in models with non-zero r. Moreover, we find that the inclusion of sub-orbital CMB experiments, capable of mapping the B-mode power up to the angular scales affected by lensing, can restore the forecasted performances with a cosmological constant. Finally, we show how the combination of CMB data with Type Ia SNe, BAO and Hubble constant allows to constrain simultaneously r and the DE quantities in the parametrization we consider, consisting of present abundance and first redshift derivative of the energy density. We compare this study with results obtained using the forecasted lensing potential measurement precision from CMB satellite observations, finding consistent results.Comment: 17 pages, 9 figures, accepted for publication by JCAP. Modified version after the referee's comment

Periodic orbit resonances in layered metals in tilted magnetic fields

The frequency dependence of the interlayer conductivity of a layered Fermi liquid in a magnetic field which is tilted away from the normal to the layers is considered. For both quasi-one- and quasi-two-dimensional systems resonances occur when the frequency is a harmonic of the frequency at which the magnetic field causes the electrons to oscillate on the Fermi surface within the layers. The intensity of the different harmonic resonances varies significantly with the direction of the field. The resonances occur for both coherent and weakly incoherent interlayer transport and so their observation does not imply the existence of a three-dimensional Fermi surface.Comment: 4 pages, RevTeX + epsf, 2 figures. Discussion of other work revised. To appear in Phys. Rev. B, Rapid Commun., October 1

Coherent vs incoherent interlayer transport in layered metals

The magnetic-field, temperature, and angular dependence of the interlayer magnetoresistance of two different quasi-two-dimensional (2D) organic superconductors is reported. For $\kappa$-(BEDT-TTF)$_2$I$_3$ we find a well-resolved peak in the angle-dependent magnetoresistance at $\Theta = 90^\circ$ (field parallel to the layers). This clear-cut proof for the coherent nature of the interlayer transport is absent for $\beta$''-(BEDT-TTF)$_2$SF$_5$CH$_2$CF$_2$SO$_3$. This and the non-metallic behavior of the magnetoresistance suggest an incoherent quasiparticle motion for the latter 2D metal.Comment: 4 pages, 4 figures. Phys. Rev. B, in pres

Lepton Flavour Violation in a Class of Lopsided SO(10) Models

A class of predictive SO(10) grand unified theories with highly asymmetric mass matrices, known as lopsided textures, has been developed to accommodate the observed mixing in the neutrino sector. The model class effectively determines the rate for charged lepton flavour violation, and in particular the branching ratio for $\mu -> e \gamma$, assuming that the supersymmetric GUT breaks directly to the constrained minimal supersymmetric standard model (CMSSM). We find that in light of the combined constraints on the CMSSM parameters from direct searches and from the WMAP satellite observations, the resulting predicted rate for $\mu -> e \gamma$ in this model class can be within the current experimental bounds for low $\tan \beta$, but that the next generation of $\mu -> e \gamma$ experiments would effectively rule out this model class if LFV is not detected.Comment: 23 page

Magnetic field-dependent interplay between incoherent and Fermi liquid transport mechanisms in low-dimensional tau phase organic conductors

We present an electrical transport study of the 2-dimensional (2D) organic conductor tau-(P-(S,S)-DMEDT-TTF)_2(AuBr)_2(AuBr_2)_y (y = 0.75) at low temperatures and high magnetic fields. The inter-plane resistivity rho_zz increases with decreasing temperature, with the exception of a slight anomaly at 12 K. Under a magnetic field B, both rho_zz and the in-plane resistivity plane rho_xx show a pronounced negative and hysteretic magnetoresistance with Shubnikov de Haas (SdH)oscillations being observed in some (high quality)samples above 15 T. Contrary to the predicted single, star-shaped, closed orbit Fermi surface from band structure calculations (with an expected approximate area of 12.5% of A_FBZ), two fundamental frequencies F_l and F_h are detected in the SdH signal. These orbits correspond to 2.4% and 6.8% of the area of the first Brillouin zone(A_FBZ), with effective masses F_l = 4.0 +/- 0.5 and F_h = 7.3 +/- 0.1. The angular dependence, in tilted magnetic fields of F_l and F_h, reveals the 2D character of the FS and Angular dependent magnetoresistance (AMRO) further suggests a FS which is strictly 2-D where the inter-plane hopping t_c is virtually absent or incoherent. The Hall constant R_xy is field independent, and the Hall mobility increases by a factor of 3 under moderate magnetic fields. Our observations suggest a unique physical situation where a stable 2D Fermi liquid state in the molecular layers are incoherently coupled along the least conducting direction. The magnetic field not only reduces the inelastic scattering between the 2D metallic layers, but it also reveals the incoherent nature of interplane transport in the AMRO spectrum. The apparent ferromagnetism of the hysteretic magnetoresistance remains an unsolved problem.Comment: 33 pages, 11 figure

Lepton Flavor Violating Process in Bi-maximal texture of Neutrino Mixings

We investigate the lepton flavor violation in the framework of the MSSM with right-handed neutrinos taking the large mixing angle MSW solution in the quasi-degenerate and the inverse-hierarchical neutrino masses. We predict the branching ratio of $\mu \to e+\gamma$ and $\tau \to \mu+\gamma$ processes assuming the degenerate right-handed Majorana neutrino masses. We find that the branching ratio in the quasi-degenerate neutrino mass spectrum is 100 times smaller than the ones in the inverse-hierarchical and the hierarchical neutrino spectra. We emphasize that the magnitude of $U_{e3}$ is one of important ingredients to predict BR($\mu \to e +\gamma$). The effect of the deviation from the complete-degenerate right-handed Majorana neutrino masses are also estimated. Furtheremore, we examine the S_{3\sL}\times S_{3\sR} model, which gives the quasi-degenerate neutrino masses, and the Shafi-Tavartkiladze model, which gives the inverse-hierarchical neutrino masses. Both predicted branching ratios of $\mu\to e+\gamma$ are smaller than the experimantal bound.Comment: Latex file, 38 pages, 10 figures, revised versio

PTF1 J082340.04+081936.5: A hot subdwarf B star with a low-mass white dwarf companion in an 87-minute orbit

We present the discovery of the hot subdwarf B star (sdB) binary PTF1 J082340.04+081936.5. The system has an orbital period of P orb = 87.49668(1) minutes (0.060761584(10) days), making it the second-most compact sdB binary known. The light curve shows ellipsoidal variations. Under the assumption that the sdB primary is synchronized with the orbit, we find a mass of M sdB = 0.45 +0.09 -0.07 M ⊙ , a companion white dwarf mass of M WD = 0.46 + 0.12 -0.09 M ⊙ , and a mass ratio of q = M WD /M sdB = 1.03 +0.10 -0.08 . The future evolution was calculated using the MESA stellar evolution code. Adopting a canonical sdB mass of M sdB = 0.47 M ⊙ , we find that the sdB still burns helium at the time it will fill its Roche lobe if the orbital period was less than 106 minutes at the exit from the last common envelope (CE) phase. For longer CE exit periods, the sdB will have stopped burning helium and turned into a C/O white dwarf at the time of contact. Comparing the spectroscopically derived log g and T eff with our MESA models, we find that an sdB model with a hydrogen envelope mass of 5 × 10 -4 M ⊙ matches the measurements at a post-CE age of 94 Myr, corresponding to a post-CE orbital period of 109 minutes, which is close to the limit to start accretion while the sdB is still burning helium