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Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease. X-linked nuclear modifiers were proposed to modify the phenotypic manifestation of LHON-associated mitochondrial DNA (mtDNA) mutations. By whole-exome sequencing, we identified the X-linked LHON modifier (c.157C>T, p.Arg53Trp) in PRICKLE3 encoding a mitochondrial protein linked to biogenesis of ATPase in 3 Chinese families. All affected individuals carried both ND4 11778G>A and p.Arg53Trp mutations, while subjects bearing only a single mutation exhibited normal vision. The cells carrying the p.Arg53Trp mutation exhibited defective assembly, stability, and function of ATP synthase, verified by PRICKLE3-knockdown cells. Coimmunoprecipitation indicated the direct interaction of PRICKLE3 with ATP synthase via ATP8. Strikingly, cells bearing both p.Arg53Trp and m.11778G>A mutations displayed greater mitochondrial dysfunction than those carrying only a single mutation. This finding indicated that the p.Arg53Trp mutation acted in synergy with the m.11778G>A mutation and deteriorated mitochondrial dysfunctions necessary for the expression of LHON. Furthermore, we demonstrated that Prickle3-deficient mice exhibited pronounced ATPase deficiencies. Prickle3-knockout mice recapitulated LHON phenotypes with retinal deficiencies, including degeneration of retinal ganglion cells and abnormal vasculature. Our findings provided new insights into the pathophysiology of LHON that were manifested by interaction between mtDNA mutations and X-linked nuclear modifiers.

China is rich in lithium resource, among which lithium ore in the Salt Lake has huge reserves, but the development and utilization technology has yet to be developed, and the main target of development is hard-rock lithium ore at present. Hard-rock lithium ore is mainly pegmatitic and concentrated in Xinjiang and Sichuan. The Mesozoic is the most important metallogenic period for pegmatite-type lithium deposits in China. A relatively stable tectonic environment after an orogeny is favored by the formation of pegmatite-type lithium deposits. After a decade of exploration practice and theoretical research, the types of lithium resource in China have shown a great variety. The brine-type lithium resource has expanded from surface brine to both shallow brine and deep brine, and the hard-rock lithium resources from single granitic pegmatite-type to altered granite-type, cryptoexplosion breccia tube-type and sedimentary-type. The metallogenic age has extended from the Meso-Cenozoic to the Paleozoic and other epochs. The metallogenic zones has increased from 12 to 16, and a number of new mineralized areas have been discovered in the Jiajika and Ke’eryin areas in western Sichuan and the Dahongliutan and Shaligou areas in Xinjiang . A new resource pattern of lithium is being formed. Moreover, Prospecting methods and exploration techniques have also developed from single surface prospecting and mapping to an integration of new techniques and methods, e.g., remote sensing to determine the prospective area, geological surveying to determine the type, geochemical prospecting to determine the mineral, geophysical prospecting to determine the location of drilling, drilling to determine the reserves, as well as biological prospecting, deep penetration of the deep exploration. In view of the rigid demand for lithium resources due to the rapid development of strategic emerging industries, it is suggested to strengthen a) the investigation, research, development and utilization of new types of lithium resources with lepidolite as the main industrial mineral and sedimentary-type lithium resources with Li-bearing clay as the main lithium resources; b) the research and prospecting of the Paleozoic and even Precambrian lithium deposits; c) the exploration of new lithium mineralization belts such as Altyn Tagh, Himalaya, Gangdise and western slope of Great Hinggan Mountains; d) the research on new mechanisms of dynamic management of lithium resources under market economy; e) the advanced research and resource reserve on lithium isotope as the raw material of controllable nuclear fusion, for leading the development of high-end mining industry.

BACKGROUND With the development of high-precision negative thermal ionization mass spectrometry (N-TIMS) technology, Re-Os isotopic dating of carbonaceous mudstone is more and more widely used in the determination of sedimentary age. The controversy over the diagenetic and metallogenic ages of the Dabaoshan copper deposit in Guangdong Province has always been a key restricting the study of the genetic mechanism. OBJECTIVES To constrain the diagenetic and metallogenic ages of the Dabaoshan copper deposit. METHODS Re-Os isotope ratios were determined by high precision N-TIMS after dissolving carbonaceous mudstone powder by reverse aqua regia in the Carius tube. Zircon U-Pb age was determined by laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS). RESULTS (1) The contents of Re and Os ranged from 0.976×10-9 to 2.997×10-9 and 0.067×10-9 to 0.115×10-9, respectively. The 187Re/188Os ratio varied from 78.236 to 154.799, and the 187Os/188Os ratio varied from 1.642 to 1.885. The Re-Os isotopic isochron age of black carbonaceous mudstone was 195±28Ma (n=6, MSWD=17). (2) The 206Pb/238U age ranged from 2631 to 236Ma, including two Mesozoic zircons, accounting for 2.50% of the total zircons, 19 Paleozoic zircons, accounting for 23.8% of the total zircons, 58 proterozoic zircons, accounting for 73% of the total zircons, 1 Archean zircon, accounting for 1% of the total zircons. The results of detrital zircon U-Pb age were broad and developed multiple peak periods, among which the youngest source magmatic zircon was formed in the Indosinian period. CONCLUSIONS The diagenetic and metallogenic age of the Dabaoshan copper deposit in Guangdong Province was constrained to the early Yanshanian. The distribution characteristics of detrital zircon U-Pb age further indicate that the Lower Jurassic Jinji Formation was formed at the stable continental margin, and its detrital material comes mainly from the ancient continental basement.

The authenticity and quality of traditional Chinese medicine (TCM) directly impact clinical efficacy and safety. Quality assessment of traditional Chinese medicine (QATCM) is a global concern due to increased demand and shortage of resources. Recently, modern analytical technologies have been extensively investigated and utilized to analyze the chemical composition of TCM. However, a single analytical technique has some limitations, and judging the quality of TCM only from the characteristics of the components is not enough to reflect the overall view of TCM. Thus, the development of multi-source information fusion technology and machine learning (ML) has further improved QATCM. Data information from different analytical instruments can better understand the connection between herbal samples from multiple aspects. This review focuses on the use of data fusion (DF) and ML in QATCM, including chromatography, spectroscopy, and other electronic sensors. The common data structures and DF strategies are introduced, followed by ML methods, including fast-growing deep learning. Finally, DF strategies combined with ML methods are discussed and illustrated for research on applications such as source identification, species identification, and content prediction in TCM. This review demonstrates the validity and accuracy of QATCM-based DF and ML strategies and provides a reference for developing and applying QATCM methods. [ABSTRACT FROM AUTHOR]

Aims Beyond the pivotal roles of the gut microbiome in initiating physiological processes and modulating genetic factors, a query persists: Can a single gene mutation alter the abundance of the gut microbiome community? Not only this, but the intricate impact of gut microbiome composition on skin pigmentation has been largely unexplored. Methods and results Based on these premises, our study examines the abundance of lipase-producing gut microbes about differential gene expression associated with bile acid synthesis and lipid metabolism-related blood metabolites in red (whole wild) and white (whole white wild and SCARB1−/− mutant) Oujiang colour common carp. Following the disruption of the SCARB1 gene in the resulting mutant fish with white body colour (SCARB1−/−), there is a notable decrease in the abundance of gut microbiomes (Bacillus, Staphylococcus, Pseudomonas , and Serratia) associated with lipase production. This reduction parallels the downregulation seen in wild-type white body colour fish (WW), as contrasting to the wild-type red body colour fish (WR). Meanwhile, in SCARB1−/− fish, there was a downregulation noted not only at the genetic and metabolic levels but also a decrease in lipase-producing bacteria. This consistency with WW contrasts significantly with WR. Similarly, genes involved in the bile acid synthesis pathway, along with blood metabolites related to lipid metabolism, exhibited downregulation in SCARB1−/− fish. Conclusions The SCARB1 knockout gene blockage led to significant alterations in the gut microbiome, potentially influencing the observed reduction in carotenoid-associated skin pigmentation. Our study emphasizes that skin pigmentation is not only impacted by genetic factors but also by the gut microbiome. Meanwhile, the gut microbiome's adaptability can be rapidly shaped and may be driven by specific single-gene variations. [ABSTRACT FROM AUTHOR]

The genetic mechanisms of osmoregulation accompanied by salinity changes in aquatic crustaceans are still unclear. In this study, two different salinity transition experiments were conducted, and the gene expression profiles of gill tissues between the two salinity transition processes were compared to unveil the genetic basis of osmoregulation and high/low salinity acclimation for Eriocheir sinensis. A total of 910 genes were significantly differentially expressed within the two salinity transition processes. Genes associated with ion transport, signal transduction, immune response, and DNA repair generally showed fluctuated expressions in the two salinity transition processes. Genes associated with the nitrogen compound metabolic process, sexual reproduction system, and ammonium transport, such as AASS, HDAC4, VG, MARF1, VMO1, and RHBG, were upregulated in a high salinity environment. Genes associated with lipid metabolism processes, such as OXCT1, TEX2, DIB, and CHKB, were upregulated in a low salinity environment. Results revealed the common and specific responsive mechanism of osmoregulation and different levels of salinity acclimation within the two salinity transition processes of E. sinensis. This study provides valuable genetic resources and novel insights into the osmoregulation research of crustaceans. KEY WORDS: crustacean, RNA-seq, osmoregulation, salinity acclimation, Eriocheir sinensis, INTRODUCTION Salinity changes are challenges that aquatic species need to adapt to, which is a biological process that several specific species must fulfill to accomplish their reproduction, growth, and development [...]