4,130 research outputs found
Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygous for these deletions or one such deletion and a mutation in GJB2. Recently, we have demonstrated that the del(GJB6-D13S1830) deletion contributes to hearing loss due to an allele-specific lack of GJB2 mRNA expression and not as a result of digenic inheritance, as was postulated earlier. In the current study we investigated the smaller del(GJB6-D13S1854) deletion, which disrupts the expression of GJB2 at the transcriptional level in a manner similar to the more common del(GJB6-D13S1830) deletion. Interestingly, in the presence of this deletion, GJB2 expression remains minimally but reproducibly present. The relative allele-specific expression of GJB2 was assessed by reverse-transcriptase PCR and restriction digestions in three probands who were compound heterozygous for a GJB2 mutation and del(GJB6-D13S1854). Each individual carried a different sequence variant in GJB2. All three individuals expressed the mutated GJB2 allele in trans with del(GJB6-D13S1854), but expression of the GJB2 allele in cis with the deletion was almost absent. Our study clearly corroborates the hypothesis that the del(GJB6-D13S1854), similar to the larger and more common del(GJB6-D13S1830), removes (a) putative cis-regulatory element(s) upstream of GJB6 and narrows down the region of location
Molecular epidemiology of DFNB1 deafness in France
BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. METHODS AND RESULTS: Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. CONCLUSION: Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness
CALIFA, the Calar Alto Legacy Integral Field Area survey: I. Survey presentation
We present here the Calar Alto Legacy Integral Field Area (CALIFA) survey,
which has been designed to provide a first step in this direction.We summarize
the survey goals and design, including sample selection and observational
strategy.We also showcase the data taken during the first observing runs
(June/July 2010) and outline the reduction pipeline, quality control schemes
and general characteristics of the reduced data. This survey is obtaining
spatially resolved spectroscopic information of a diameter selected sample of
galaxies in the Local Universe (0.005< z <0.03). CALIFA has been
designed to allow the building of two-dimensional maps of the following
quantities: (a) stellar populations: ages and metallicities; (b) ionized gas:
distribution, excitation mechanism and chemical abundances; and (c) kinematic
properties: both from stellar and ionized gas components. CALIFA uses the PPAK
Integral Field Unit (IFU), with a hexagonal field-of-view of
\sim1.3\sq\arcmin', with a 100% covering factor by adopting a three-pointing
dithering scheme. The optical wavelength range is covered from 3700 to 7000
{\AA}, using two overlapping setups (V500 and V1200), with different
resolutions: R\sim850 and R\sim1650, respectively. CALIFA is a legacy survey,
intended for the community. The reduced data will be released, once the quality
has been guaranteed. The analyzed data fulfill the expectations of the original
observing proposal, on the basis of a set of quality checks and exploratory
analysis.
We conclude from this first look at the data that CALIFA will be an important
resource for archaeological studies of galaxies in the Local Universe.Comment: 32 pages, 29 figures, Accepted for publishing in Astronomy and
Astrophysic
Bose-Einstein correlations of same-sign charged pions in the forward region in pp collisions at √s=7 TeV
Bose-Einstein correlations of same-sign charged pions, produced in protonproton collisions at a 7 TeV centre-of-mass energy, are studied using a data sample collected
by the LHCb experiment. The signature for Bose-Einstein correlations is observed in the
form of an enhancement of pairs of like-sign charged pions with small four-momentum
difference squared. The charged-particle multiplicity dependence of the Bose-Einstein correlation parameters describing the correlation strength and the size of the emitting source
is investigated, determining both the correlation radius and the chaoticity parameter. The
measured correlation radius is found to increase as a function of increasing charged-particle
multiplicity, while the chaoticity parameter is seen to decreas
Observation of two new baryon resonances
Two structures are observed close to the kinematic threshold in the mass spectrum in a sample of proton-proton collision data, corresponding
to an integrated luminosity of 3.0 fb recorded by the LHCb experiment.
In the quark model, two baryonic resonances with quark content are
expected in this mass region: the spin-parity and
states, denoted and .
Interpreting the structures as these resonances, we measure the mass
differences and the width of the heavier state to be
MeV,
MeV,
MeV, where the first and second
uncertainties are statistical and systematic, respectively. The width of the
lighter state is consistent with zero, and we place an upper limit of
MeV at 95% confidence level. Relative
production rates of these states are also reported.Comment: 17 pages, 2 figure
Measurement of the mass and lifetime of the baryon
A proton-proton collision data sample, corresponding to an integrated
luminosity of 3 fb collected by LHCb at and 8 TeV, is used
to reconstruct , decays. Using the , decay mode for calibration, the lifetime ratio and absolute
lifetime of the baryon are measured to be \begin{align*}
\frac{\tau_{\Omega_b^-}}{\tau_{\Xi_b^-}} &= 1.11\pm0.16\pm0.03, \\
\tau_{\Omega_b^-} &= 1.78\pm0.26\pm0.05\pm0.06~{\rm ps}, \end{align*} where the
uncertainties are statistical, systematic and from the calibration mode (for
only). A measurement is also made of the mass difference,
, and the corresponding mass, which
yields \begin{align*} m_{\Omega_b^-}-m_{\Xi_b^-} &= 247.4\pm3.2\pm0.5~{\rm
MeV}/c^2, \\ m_{\Omega_b^-} &= 6045.1\pm3.2\pm 0.5\pm0.6~{\rm MeV}/c^2.
\end{align*} These results are consistent with previous measurements.Comment: 11 pages, 5 figures, All figures and tables, along with any
supplementary material and additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2016-008.htm
The Pierre Auger Observatory III: Other Astrophysical Observations
Astrophysical observations of ultra-high-energy cosmic rays with the Pierre
Auger ObservatoryComment: Contributions to the 32nd International Cosmic Ray Conference,
Beijing, China, August 201
Constraints on the unitarity triangle angle from Dalitz plot analysis of decays
The first study is presented of CP violation with an amplitude analysis of
the Dalitz plot of decays, with , and . The analysis is based on a data sample corresponding to
of collisions collected with the LHCb detector. No
significant CP violation effect is seen, and constraints are placed on the
angle of the unitarity triangle formed from elements of the
Cabibbo-Kobayashi-Maskawa quark mixing matrix. Hadronic parameters associated
with the decay are determined for the first time. These
measurements can be used to improve the sensitivity to of existing and
future studies of the decay.Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2015-059.html;
updated to correct figure 9 (numerical results unchanged
Observation of the decay
The decay is observed in collision
data corresponding to an integrated luminosity of 3 fb recorded by the
LHCb detector at centre-of-mass energies of 7 TeV and 8 TeV. This is the first
observation of this decay channel, with a statistical significance of 15
standard deviations. The mass of the meson is measured to be
MeV/c. The branching fraction ratio
is measured to be 0.0115\,\pm\, 0.0012\, ^{+0.0005}_{-0.0009}.
In both cases, the first uncertainty is statistical and the second is
systematic. No evidence for non-resonant or decays is found.Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2015-033.htm
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