Table_1_Dissecting the shared genetic architecture between endometriosis and polycystic ovary syndrome.xlsx

BackgroundPrevious study suggested evidence for coexistence and similarities between endometriosis and polycystic ovary syndrome (PCOS), but it is unclear regarding the shared genetic architecture and causality underlying the phenotypic similarities observed for endometriosis and PCOS.MethodsBy leveraging summary statistics from public genome-wide association studies regarding endometriosis (European-based: N=470,866) and PCOS (European-based: N=210,870), we explored the genetic correlation that shared between endometriosis and PCOS using linkage disequilibrium score regression. Shared risk SNPs were derived using PLACO (Pleiotropic analysis under composite null hypothesis) and FUMA (Functional Mapping and Annotation of Genetic Associations). The potential causal association between endometriosis and PCOS was investigated using two-sample Mendelian randomization (MR). Linkage disequilibrium score for the specific expression of genes analysis (LDSC-SEG) were performed for tissue enrichment analysis. The expression profiles of the risk gene in tissues were further examined.ResultsA positive genetic association was observed between endometriosis and PCOS. 12 significant pleiotropic loci shared between endometriosis and PCOS were identified. Genetic associations between endometriosis and PCOS were particularly enriched in uterus, endometrium and fallopian tube. Two-sample MR analysis further indicated a potential causative effect of endometriosis on PCOS, and vice versa. Microarray and RNA-seq verified the expressions of SYNE1 and DNM3 were significantly altered in the endometrium of patients with endometriosis or PCOS compared to those of control subjects.ConclusionOur study indicates the genetic correlation and shared risk genes between PCOS and endometriosis. These findings provide insights into the potential mechanisms behind their comorbidity and the future development of therapeutics.</p

A pOH Jump Driven by NN Out-of-Plane Motion in the Photoisomerization of Water-Solvated Triazabutadiene

Utilization of photoinitiated isomerization reaction has recently emerged as a very promising platform to modulate the basicity of compounds; however, theoretical insight into its regulatory mechanism remains largely unknown and needs to be addressed. For the first time, an unexpected <i>trans</i>–<i>cis</i> photoisomerization via the NN out of plane (NOOP) motion triggered by an in-plane inversion of N–NN moiety was computationally demonstrated to regulate the pOH jump of water-solvated triazabutadiene by using the multiconfigurational perturbation theory together with the calculation of rate constants of protonation–deprotonation reactions. Kinetic analyses show that the dramatic pOH change can be attributed to the reinforced intramolecular hydrogen bonding resulting from water cluster reorientation and the enhanced coupling between the rotated π orbital and N lone pair of triazabutadiene in the remarkable <i>trans</i>–<i>cis</i> photoisomerization

Molecular Turnstiles Regulated by Metal Ions

A family of novel molecular turnstiles <b>1</b>–<b>3</b> composed of two stators with pyridyl binding sites and a different-sized triptycene rotor was synthesized. The molecular turnstiles behave in an open state at room temperature in the absence of metal ions but display significantly different closed states in the presence of Ag⁺ and Pd²⁺. The Ag⁺-mediated turnstiles <b>1</b>–<b>3Ag</b> exhibited closed states but unreadable bistability at ambient temperature because the Ag⁺-mediated macrocyclic framework is not able to restrict the rotations of the rotors; while temperature was decreased, the macrocyclic frameworks became stable enough to halt the rotations of the rotors, eventually leading to the readable closed states for <b>1</b>–<b>3Ag</b>. In contrast, Pd²⁺-mediated macrocyclic frameworks are stable, giving rise to a detectable closed state of turnstiles <b>1</b>–<b>3Pd</b> in a wide range of temperatures. These findings have also been supported by DFT calculations

Molecular Turnstiles Regulated by Metal Ions

A family of novel molecular turnstiles <b>1</b>–<b>3</b> composed of two stators with pyridyl binding sites and a different-sized triptycene rotor was synthesized. The molecular turnstiles behave in an open state at room temperature in the absence of metal ions but display significantly different closed states in the presence of Ag⁺ and Pd²⁺. The Ag⁺-mediated turnstiles <b>1</b>–<b>3Ag</b> exhibited closed states but unreadable bistability at ambient temperature because the Ag⁺-mediated macrocyclic framework is not able to restrict the rotations of the rotors; while temperature was decreased, the macrocyclic frameworks became stable enough to halt the rotations of the rotors, eventually leading to the readable closed states for <b>1</b>–<b>3Ag</b>. In contrast, Pd²⁺-mediated macrocyclic frameworks are stable, giving rise to a detectable closed state of turnstiles <b>1</b>–<b>3Pd</b> in a wide range of temperatures. These findings have also been supported by DFT calculations

Identification of Conserved and Novel microRNAs in Cashmere Goat Skin by Deep Sequencing

<div><p>MicroRNAs (miRNAs) are a class of small RNAs that play significant roles in regulating the expression of the post-transcriptional skin and hair follicle gene. In recent years, extensive studies on these microRNAs have been carried out in mammals such as mice, rats, pigs and cattle. By comparison, the number of microRNAs that have been identified in goats is relatively low; and in particular, the miRNAs associated with the processes of skin and hair follicle development remain largely unknown. In this study, areas of skin where the cashmere grows in anagen were sampled. A total of 10,943,292 reads were obtained using Solexa sequencing, a high-throughput sequencing technology. From 10,644,467 reads, we identified 3,381 distinct reads and after applying the classification statistics we obtained 316 miRNAs. Among them, using conservative identification, we found that 68 miRNAs (55 of these are confirmed to match known sheep and goat miRNAs in miRBase ) are conserved in goat and have been reported in NCBI; the remaining 248 miRNA were conserved in other species but have not been reported in goat. Furthermore, we identified 22 novel miRNAs. Both the known and novel miRNAs were confirmed by a second sequencing using the same method as was used in the first. This study confirmed the authenticity of 316 known miRNAs and the discovery of 22 novel miRNAs in goat. We found that the miRNAs that were co-expressed in goat and sheep were located in the same region of the respective chromosomes and may play an essential role in skin and follicle development. Identificaton of novel miRNAs resulted in significant enrichment of the repertoire of goat miRNAs.</p> </div