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Guilin is a typical representative of karst landform in South China. Because of its unique geographical landform and hydrological environment, Lijiang River Basin has received a certain degree of attention in field of ecology and sustainable development. In order to understand the hot spots, research frontiers and literature overview in the research field of Guilin Lijiang River Basin Ecology and Sustainable Development (GLRBESD), and clarify current and future research directions. Results showed that number of published papers was in a fluctuating upward trend from 1992 to 2022 and from 2011 to 2022, respectively. Work of scholars in this field has been continuously strengthened and deepened, and overall scientific research results show an increasing trend. Research objects and topics are mainly aimed at the water resources, climate and environment of GLRB Landscape ecology and SDGs index construction. Research of GLRBESD published documents has the characteristics of multi-disciplinary and interdisciplinary integration. High-frequency keywords in research field focus on ecotourism, ecological restoration and sustainable development, mainly based on the research of ecotourism development. Impact of environmental factor changes and human activities on land use change in different periods is an important research topic. Core research fields of GLRBESD on macro-scale can be divided into ESV and function, ecological compensation and ecotourism, ecological environment and ecological restoration, ecological network and ecological risk assessment, sustainable development. This research provides systematic scientific research basis for enhancing sustainable development ability and ecosystem functions and services of World Natural Heritage Site.

Constructing high-quality haplotype-resolved genome assemblies has substantially improved the ability to detect and characterize genetic variants. A targeted approach providing readily access to the rich information from haplotype-resolved genome assemblies will be appealing to groups of basic researchers and medical scientists focused on specific genomic regions. Here, using the 4.5 megabase, notoriously difficult-to-assemble major histocompatibility complex (MHC) region as an example, we demonstrated an approach to construct haplotype-resolved de novo assemblies of targeted genomic regions with the CRISPR-based enrichment. Compared to the results from haplotype-resolved genome assemblies, our targeted approach achieved comparable completeness and accuracy with greatly reduced computing complexity, sequencing cost, as well as the amount of starting materials. Moreover, using the targeted assembled personal haplotypes as the reference both improves the quantification accuracy for sequencing data and enables allele-specific functional genomics analyses. Given its highly efficient use of resources, our approach can greatly facilitate population genetic studies of targeted regions, and may pave a new way to elucidate the molecular mechanisms in disease etiology.

The Yangshuo Section of the Lijiang River Basin (YS of LRB) is the essence of the Guilin landscape in China. The typical karst landforms and changing topography form a unique forest landscape in YS of LRB. In order to reveal the visual quality of itse forest landscape, this research used GIS spatial analysis technology combined with Analytic Hierarchy Process (AHP), the assessment factors were leveled and assigned, and some abstract assessment indicators in the visual quality assessment were quantified. Three primary indicators of forest landscape visual quality (FLVQ) assessment in YS of LRB, including Scenic Quality (SQ), Visual Sensitivity (VS), and Visual Absorption Capability (VAC), are proposed. Visual assessment units are divided based on the watershed, and a process and framework for the comprehensive assessment of FLVQ was established at the watershed scale. The results show that the FLVQ in YS of LRB is generally at a low level. The area percentage of FLVQ at high (13′&11′), medium (9′) and low (7′&5′) levels are 10.95%, 29.67% and 59.38%, respectively. The comprehensive score of FLVQ in the karst area is slightly lower than that in the non-karst area, but the karst area of the units with the highest FLVQ accounts for 99.58% of the FLVQ of karst areas along the Lijiang River distributed in the Lijiang River Scenic Area, greater than that of any other areas. The FLVQ in regions with high vegetation coverage and large topographic changes is relatively higher. Slope, relief amplitude, and vegetation richness directly affect the visual quality of forest landscape. Under the influence of local scenic area protection policies and relatively stable natural climate, the FLVQ in YS of LRB has maintained a stable level in the past 20 years. The areas with low FLVQ are mainly cultivated land and construction land, which have low vegetation coverage and no obvious change in terrain. Based on the comprehensive assessment results of FLVQ in YS of LRB, the management goals and future development suitability of forest landscape is discussed. This research proposes appropriate construction and management strategies for forest landscape structures. The results are helpful for providing a scientific research basis for forest landscape resource conservation, landscape site selection, and forest ecotourism development in the Karst landscape area. The impact of human disturbance on the forest landscape fragmentation and the growth characteristics of forests under different landforms are the focus of future FLVQ research on similar areas.

Background Thoracic aortic dissection (TAD) is a severe disease with limited understandings in its pathogenesis. Altered DNA methylation has been revealed to be involved in many diseases etiology. Few studies have examined the role of DNA methylation in the development of TAD. This study explored alterations of the DNA methylation landscape in TAD and examined the potential role of cell-free DNA (cfDNA) methylation as a biomarker in TAD diagnosis. Results Ascending aortic tissues from TAD patients (Stanford type A; n = 6) and healthy controls (n = 6) were first examined via whole-genome bisulfite sequencing (WGBS). While no obvious global methylation shift was observed, numerous differentially methylated regions (DMRs) were identified, with associated genes enriched in the areas of vasculature and heart development. We further confirmed the methylation and expression changes in homeobox (Hox) clusters with 10 independent samples using bisulfite pyrosequencing and quantitative real-time PCR (qPCR). Among these, HOXA5, HOXB6 and HOXC6 were significantly down-regulated in TAD samples relative to controls. To evaluate cfDNA methylation pattern as a biomarker in TAD diagnosis, cfDNA from TAD patients (Stanford type A; n = 7) and healthy controls (n = 4) were examined by WGBS. A prediction model was built using DMRs identified previously from aortic tissues on methylation data from cfDNA. Both high sensitivity (86%) and specificity (75%) were achieved in patient classification (AUC = 0.96). Conclusions These findings showed an altered epigenetic regulation in TAD patients. This altered epigenetic regulation and subsequent altered expression of genes associated with vasculature and heart development, such as Hox family genes, may contribute to the loss of aortic integrity and TAD pathogenesis. Additionally, the cfDNA methylation in TAD was highly disease specific, which can be used as a non-invasive biomarker for disease prediction.