Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences

PMCID: PMC3566971This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

De novo mutations in <i>MSL3</i> cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in MSL3, which encodes a member of the chromatin-associated male-specific lethal (MSL) complex responsible for bulk histone H4 lysine 16 acetylation (H4K16ac) in flies and mammals. These variants cause an X-linked syndrome affecting both sexes. Clinical features of the syndrome include global developmental delay, progressive gait disturbance, and recognizable facial dysmorphism. MSL3 mutations affect MSL complex assembly and activity, accompanied by a pronounced loss of H4K16ac levels in vivo. Patient-derived cells display global transcriptome alterations of pathways involved in morphogenesis and cell migration. Finally, we use histone deacetylase inhibitors to rebalance acetylation levels, alleviating some of the molecular and cellular phenotypes of patient cells. Taken together, we characterize a syndrome that allowed us to decipher the developmental importance of MSL3 in humans

Branching Fraction Measurements of the Rare Bs0→ϕμ+μ−B^0_s\rightarrow\phi\mu^+\mu^- and Bs0→f2′(1525)μ+μ−B^0_s\rightarrow f_2^\prime(1525)\mu^+\mu^- Decays

The branching fraction of the rare $B^0_s\rightarrow\phi\mu^+\mu^-$ decay is measured using data collected by the LHCb experiment at center-of-mass energies of 7, 8, and 13 TeV, corresponding to integrated luminosities of 1, 2, and 6 fb$^{-1}$, respectively. The branching fraction is reported in intervals of q$^2$, the square of the dimuon invariant mass. In the q$^2$ region between 1.1 and 6.0 GeV$^2$/c$^4$, the measurement is found to lie 3.6 standard deviations below a standard model prediction based on a combination of light cone sum rule and lattice QCD calculations. In addition, the first observation of the rare $B^0_s\rightarrow f_2^\prime(1525)\mu^+\mu^-$ decay is reported with a statistical significance of 9 standard deviations and its branching fraction is determined

Study of coherent J/ψJ/\psi production in lead-lead collisions at sNN \sqrt{{\mathrm{s}}_{\mathrm{NN}}} = 5 TeV

International audienceCoherent production of J/ψ mesons is studied in ultraperipheral lead-lead collisions at a nucleon-nucleon centre-of-mass energy of 5 TeV, using a data sample collected by the LHCb experiment corresponding to an integrated luminosity of about 10 μb$^{−1}$. The J/ψ mesons are reconstructed in the dimuon final state and are required to have transverse momentum below 1 GeV. The cross-section within the rapidity range of 2.0 < y < 4.5 is measured to be 4.45 ± 0.24 ± 0.18 ± 0.58 mb, where the first uncertainty is statistical, the second systematic and the third originates from the luminosity determination. The cross-section is also measured in J/ψ rapidity intervals. The results are compared to predictions from phenomenological models.[graphic not available: see fulltext

Search for the doubly heavy baryons Ωbc0\Omega^0_{bc} and Ξbc0\Xi^0_{bc} decaying to Λc+π−\Lambda^+_c \pi^- and Ξc+π−\Xi^+_c \pi^-

The first search for the doubly heavy baryon and a search for the baryon are performed using collision data collected via the experiment from 2016 to 2018 at a centre-of-mass energy of , corresponding to an integrated luminosity of 5.2 . The baryons are reconstructed via their decays to and . No significant excess is found for invariant masses between 6700 and 7300 , in a rapidity range from 2.0 to 4.5 and a transverse momentum range from 2 to 20 . Upper limits are set on the ratio of the and production cross-section times the branching fraction to ( ) relative to that of the ( ) baryon, for different lifetime hypotheses, at 95% confidence level. The upper limits range from to for the ( ) decay, and from to for the ( ) decay, depending on the considered mass and lifetime of the ( ) baryon

Search for the radiative Ξb−→Ξ−γ\Xi_b^-\to\Xi^-\gamma decay

International audienceThe first search for the rare radiative decay ${\Xi}_b^{-}$ → Ξ$^{−}$γ is performed using data collected by the LHCb experiment in proton-proton collisions at a center-of-mass energy of 13 TeV, corresponding to an integrated luminosity of 5.4 fb$^{−1}$. The ${\Xi}_b^{-}$ → Ξ$^{−}$J/ψ channel is used as normalization. No ${\Xi}_b^{-}$ → Ξ$^{−}$γ signal is found and an upper limit of $\mathcal{B}$(${\Xi}_b^{-}$ → Ξ$^{−}$γ) < 1.3 × 10$^{−4}$ at 95% confidence level is obtained.[graphic not available: see fulltext

Observation of an exotic narrow doubly charmed tetraquark

International audienceConventional, hadronic matter consists of baryons and mesons made of three quarks and a quark–antiquark pair, respectively$^{1,2}$. Here, we report the observation of a hadronic state containing four quarks in the Large Hadron Collider beauty experiment. This so-called tetraquark contains two charm quarks, a $\overline{{{{{u}}}}}$ and a $\overline{{{{{d}}}}}$ quark. This exotic state has a mass of approximately 3,875 MeV and manifests as a narrow peak in the mass spectrum of D$^{0}$D$^{0}$π$^{+}$ mesons just below the D$^{*+}$D$^{0}$ mass threshold. The near-threshold mass together with the narrow width reveals the resonance nature of the state