Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Detectable clonal mosaicism and its relationship to aging and cancer

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases

STCF Conceptual Design Report: Volume 1 -- Physics & Detector

International audienceThe Super $\tau$-Charm facility (STCF) is an electron-positron collider proposed by the Chinese particle physics community. It is designed to operate in a center-of-mass energy range from 2 to 7 GeV with a peak luminosity of $0.5\times 10^{35}{\rm cm}^{-2}{\rm s}^{-1}$ or higher. The STCF will produce a data sample about a factor of 100 larger than that by the present $\tau$-Charm factory -- the BEPCII, providing a unique platform for exploring the asymmetry of matter-antimatter (charge-parity violation), in-depth studies of the internal structure of hadrons and the nature of non-perturbative strong interactions, as well as searching for exotic hadrons and physics beyond the Standard Model. The STCF project in China is under development with an extensive R&D program. This document presents the physics opportunities at the STCF, describes conceptual designs of the STCF detector system, and discusses future plans for detector R&D and physics case studies

STCF Conceptual Design Report: Volume 1 -- Physics & Detector

International audienceThe Super $\tau$-Charm facility (STCF) is an electron-positron collider proposed by the Chinese particle physics community. It is designed to operate in a center-of-mass energy range from 2 to 7 GeV with a peak luminosity of $0.5\times 10^{35}{\rm cm}^{-2}{\rm s}^{-1}$ or higher. The STCF will produce a data sample about a factor of 100 larger than that by the present $\tau$-Charm factory -- the BEPCII, providing a unique platform for exploring the asymmetry of matter-antimatter (charge-parity violation), in-depth studies of the internal structure of hadrons and the nature of non-perturbative strong interactions, as well as searching for exotic hadrons and physics beyond the Standard Model. The STCF project in China is under development with an extensive R&D program. This document presents the physics opportunities at the STCF, describes conceptual designs of the STCF detector system, and discusses future plans for detector R&D and physics case studies

An Ultrahigh-energy γ\gamma-ray Bubble Powered by a Super PeVatron

International audienceWe report the detection of a $\gamma$-ray bubble spanning at least 100$\rm deg^2$ in ultra high energy (UHE) up to a few PeV in the direction of the star-forming region Cygnus X, implying the presence Super PeVatron(s) accelerating protons to at least 10 PeV. A log-parabola form with the photon index $\Gamma (E) = (2.71 \pm 0.02) + (0.11 \pm 0.02) \times \log_{10} (E/10 \ {\rm TeV})$ is found fitting the gamma-ray energy spectrum of the bubble well. UHE sources, `hot spots' correlated with very massive molecular clouds, and a quasi-spherical amorphous $\gamma$-ray emitter with a sharp central brightening are observed in the bubble. In the core of $\sim 0.5^{\circ}$, spatially associating with a region containing massive OB association (Cygnus OB2) and a microquasar (Cygnus X-3), as well as previously reported multi-TeV sources, an enhanced concentration of UHE $\gamma$-rays are observed with 2 photons at energies above 1 PeV. The general feature of the bubble, the morphology and the energy spectrum, are reasonably reproduced by the assumption of a particle accelerator in the core, continuously injecting protons into the ambient medium

Data quality control system and long-term performance monitor of the LHAASO-KM2A

International audienceThe KM2A is the largest sub-array of the Large High Altitude Air Shower Observatory (LHAASO). It consists of 5216 electromagnetic particle detectors (EDs) and 1188 muon detectors (MDs). The data recorded by the EDs and MDs are used to reconstruct primary information of cosmic ray and gamma-ray showers. This information is used for physical analysis in gamma-ray astronomy and cosmic ray physics. To ensure the reliability of the LHAASO-KM2A data, a three-level quality control system has been established. It is used to monitor the status of detector units, stability of reconstructed parameters and the performance of the array based on observations of the Crab Nebula and Moon shadow. This paper will introduce the control system and its application on the LHAASO-KM2A data collected from August 2021 to July 2023. During this period, the pointing and angular resolution of the array were stable. From the observations of the Moon shadow and Crab Nebula, the results achieved using the two methods are consistent with each other. According to the observation of the Crab Nebula at energies from 25 TeV to 100 TeV, the time averaged pointing errors are estimated to be $-0.003^{\circ} \pm 0.005^{\circ}$ and $0.001^{\circ} \pm 0.006^{\circ}$ in the R.A. and Dec directions, respectively

Pointing calibration of LHAASO-WFCTA telescopes using bright stars

International audienceOne of the main scientific objectives of the Large High Altitude Air Shower Observatory (LHAASO) is to perform accurate measurements of the energy spectra for different cosmic ray masses, from a few TeV to 100 PeV. As one of the main sub-arrays of LHAASO, the Wide Field-of-View Cherenkov Telescope Array (WFCTA), which consists of 18 telescopes, can help in achieving this goal. The pointing accuracy of each telescope is crucial for reconstructing energy and determining mass-sensitive parameters. In this study, a method for absolute pointing calibration using ultraviolet bright stars was established. The proposed method can achieve a pointing accuracy of approximately 0.02° by using more than five stars. When more stars are used in the telescope’s field of view, the accuracy of the pointing calibration can be improved, e.g, a pointing accuracy of 0.01° can be achieved when using more than 15 stars. A high-precision inclinometer with a monitor resolution of 0.003° was installed on the camera to monitor the zenith direction of the telescope at every second. After calibration using bright stars, the absolute pointing accuracy of the inclinometer was 0.02°. •Method for absolute pointing calibration using ultraviolet bright stars established.•A pointing accuracy of ∼0.02°can be achieved using more than five stars.•A pointing accuracy of 0.01°can be achieved when using more than 15 stars•Accuracy of the pointing calibration increases with number of bright stars

Discovery of Very-high-energy Gamma-ray Emissions from the Low Luminosity AGN NGC 4278 by LHAASO

International audienceThe first source catalog of Large High Altitude Air Shower Observatory reported the detection of a very-high-energy gamma ray source, 1LHAASO J1219+2915. In this paper a further detailed study of the spectral and temporal behavior of this point-like source have been carried. The best-fit position of the TeV source ($\rm{RA}=185.05^{\circ}\pm0.04^{\circ}$, $\rm{Dec}=29.25^{\circ}\pm0.03^{\circ}$) is compatible with NGC 4278 within $\sim0.03$ degree. Variation analysis shows an indication of the variability at a few months level in the TeV band, which is consistent with low frequency observations. Based on these observations, we report the detection of TeV $\gamma$-ray emissions from this low-luminosity AGN NGC 4278. The observations by LHAASO-WCDA during active period has a significance level of 8.8 $\sigma$ with best-fit photon spectral index $\varGamma=2.56\pm0.14$ and a flux $f_{1-10\,\rm{TeV}}=(7.0\pm1.1_{\rm{sta}}\pm0.35_{\rm{syst}})\times10^{-13}\,\rm{photons\,cm^{-2}\,s^{-1}}$, or approximately $5\%$ of the Crab Nebula. The discovery of VHE from NGC 4278 indicates that the compact, weak radio jet can efficiently accelerate particles and emit TeV photons

Stringent Tests of Lorentz Invariance Violation from LHAASO Observations of GRB 221009A

International audienceVery recently, the Large High Altitude Air Shower Observatory (LHAASO) reported the observation of the very early TeV afterglow of the brightest-of-all-time GRB 221009A, recording the highest photon statistics in the TeV band ever from a gamma-ray burst. We use this unique observation to place stringent constraints on an energy dependence of the speed of light in vacuum, a manifestation of Lorentz invariance violation (LIV) predicted by some quantum gravity (QG) theories. Our results show that the 95% confidence level lower limits on the QG energy scales are $E_{\mathrm{QG},1}>10$ times of the Planck energy $E_\mathrm{Pl}$ for the linear, and $E_{\mathrm{QG},2}>6\times10^{-8}E_\mathrm{Pl}$ for the quadratic LIV effects, respectively. Our limits on the quadratic LIV case improve previous best bounds by factors of 5--7