GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giad107
Yujin Pu, Yang Zhou, Jun Liu, Haibin Zhang
{"title":"A high-quality chromosomal genome assembly of the sea cucumber Chiridota heheva and its hydrothermal adaptation.","authors":"Yujin Pu, Yang Zhou, Jun Liu, Haibin Zhang","doi":"10.1093/gigascience/giad107","DOIUrl":"10.1093/gigascience/giad107","url":null,"abstract":"<p><strong>Background: </strong>Chiridota heheva is a cosmopolitan holothurian well adapted to diverse deep-sea ecosystems, especially chemosynthetic environments. Besides high hydrostatic pressure and limited light, high concentrations of metal ions also represent harsh conditions in hydrothermal environments. Few holothurian species can live in such extreme conditions. Therefore, it is valuable to elucidate the adaptive genetic mechanisms of C. heheva in hydrothermal environments.</p><p><strong>Findings: </strong>Herein, we report a high-quality reference genome assembly of C. heheva from the Kairei vent, which is the first chromosome-level genome of Apodida. The chromosome-level genome size was 1.43 Gb, with a scaffold N50 of 53.24 Mb and BUSCO completeness score of 94.5%. Contig sequences were clustered, ordered, and assembled into 19 natural chromosomes. Comparative genome analysis found that the expanded gene families and positively selected genes of C. heheva were involved in the DNA damage repair process. The expanded gene families and the unique genes contributed to maintaining iron homeostasis in an iron-enriched environment. The positively selected gene RFC2 with 10 positively selected sites played an essential role in DNA repair under extreme environments.</p><p><strong>Conclusions: </strong>This first chromosome-level genome assembly of C. heheva reveals the hydrothermal adaptation of holothurians. As the first chromosome-level genome of order Apodida, this genome will provide the resource for investigating the evolution of class Holothuroidea.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139086481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giad112
Nicolás Gaitán, Jorge Duitama
{"title":"A graph clustering algorithm for detection and genotyping of structural variants from long reads.","authors":"Nicolás Gaitán, Jorge Duitama","doi":"10.1093/gigascience/giad112","DOIUrl":"10.1093/gigascience/giad112","url":null,"abstract":"<p><strong>Background: </strong>Structural variants (SVs) are genomic polymorphisms defined by their length (>50 bp). The usual types of SVs are deletions, insertions, translocations, inversions, and copy number variants. SV detection and genotyping is fundamental given the role of SVs in phenomena such as phenotypic variation and evolutionary events. Thus, methods to identify SVs using long-read sequencing data have been recently developed.</p><p><strong>Findings: </strong>We present an accurate and efficient algorithm to predict germline SVs from long-read sequencing data. The algorithm starts collecting evidence (signatures) of SVs from read alignments. Then, signatures are clustered based on a Euclidean graph with coordinates calculated from lengths and genomic positions. Clustering is performed by the DBSCAN algorithm, which provides the advantage of delimiting clusters with high resolution. Clusters are transformed into SVs and a Bayesian model allows to precisely genotype SVs based on their supporting evidence. This algorithm is integrated into the single sample variants detector of the Next Generation Sequencing Experience Platform, which facilitates the integration with other functionalities for genomics analysis. We performed multiple benchmark experiments, including simulation and real data, representing different genome profiles, sequencing technologies (PacBio HiFi, ONT), and read depths.</p><p><strong>Conclusion: </strong>The results show that our approach outperformed state-of-the-art tools on germline SV calling and genotyping, especially at low depths, and in error-prone repetitive regions. We believe this work significantly contributes to the development of bioinformatic strategies to maximize the use of long-read sequencing technologies.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10783151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139416802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giad120
Justin Sonneck, Yu Zhou, Jianxu Chen
{"title":"MMV_Im2Im: an open-source microscopy machine vision toolbox for image-to-image transformation.","authors":"Justin Sonneck, Yu Zhou, Jianxu Chen","doi":"10.1093/gigascience/giad120","DOIUrl":"10.1093/gigascience/giad120","url":null,"abstract":"<p><p>Over the past decade, deep learning (DL) research in computer vision has been growing rapidly, with many advances in DL-based image analysis methods for biomedical problems. In this work, we introduce MMV_Im2Im, a new open-source Python package for image-to-image transformation in bioimaging applications. MMV_Im2Im is designed with a generic image-to-image transformation framework that can be used for a wide range of tasks, including semantic segmentation, instance segmentation, image restoration, image generation, and so on. Our implementation takes advantage of state-of-the-art machine learning engineering techniques, allowing researchers to focus on their research without worrying about engineering details. We demonstrate the effectiveness of MMV_Im2Im on more than 10 different biomedical problems, showcasing its general potentials and applicabilities. For computational biomedical researchers, MMV_Im2Im provides a starting point for developing new biomedical image analysis or machine learning algorithms, where they can either reuse the code in this package or fork and extend this package to facilitate the development of new methods. Experimental biomedical researchers can benefit from this work by gaining a comprehensive view of the image-to-image transformation concept through diversified examples and use cases. We hope this work can give the community inspirations on how DL-based image-to-image transformation can be integrated into the assay development process, enabling new biomedical studies that cannot be done only with traditional experimental assays. To help researchers get started, we have provided source code, documentation, and tutorials for MMV_Im2Im at [https://github.com/MMV-Lab/mmv_im2im] under MIT license.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10821710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139570421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The first high-altitude autotetraploid haplotype-resolved genome assembled (Rhododendron nivale subsp. boreale) provides new insights into mountaintop adaptation.","authors":"Zhen-Yu Lyu, Xiong-Li Zhou, Si-Qi Wang, Gao-Ming Yang, Wen-Guang Sun, Jie-Yu Zhang, Rui Zhang, Shi-Kang Shen","doi":"10.1093/gigascience/giae052","DOIUrl":"10.1093/gigascience/giae052","url":null,"abstract":"<p><strong>Background: </strong>Rhododendron nivale subsp. boreale Philipson et M. N. Philipson is an alpine woody species with ornamental qualities that serve as the predominant species in mountainous scrub habitats found at an altitude of ∼4,200 m. As a high-altitude woody polyploid, this species may serve as a model to understand how plants adapt to alpine environments. Despite its ecological significance, the lack of genomic resources has hindered a comprehensive understanding of its evolutionary and adaptive characteristics in high-altitude mountainous environments.</p><p><strong>Findings: </strong>We sequenced and assembled the genome of R. nivale subsp. boreale, an assembly of the first subgenus Rhododendron and the first high-altitude woody flowering tetraploid, contributing an important genomic resource for alpine woody flora. The assembly included 52 pseudochromosomes (scaffold N50 = 42.93 Mb; BUSCO = 98.8%; QV = 45.51; S-AQI = 98.69), which belonged to 4 haplotypes, harboring 127,810 predicted protein-coding genes. Conjoint k-mer analysis, collinearity assessment, and phylogenetic investigation corroborated autotetraploid identity. Comparative genomic analysis revealed that R. nivale subsp. boreale originated as a neopolyploid of R. nivale and underwent 2 rounds of ancient polyploidy events. Transcriptional expression analysis showed that differences in expression between alleles were common and randomly distributed in the genome. We identified extended gene families and signatures of positive selection that are involved not only in adaptation to the mountaintop ecosystem (response to stress and developmental regulation) but also in autotetraploid reproduction (meiotic stabilization). Additionally, the expression levels of the (group VII ethylene response factor transcription factors) ERF VIIs were significantly higher than the mean global gene expression. We suspect that these changes have enabled the success of this species at high altitudes.</p><p><strong>Conclusions: </strong>We assembled the first high-altitude autopolyploid genome and achieved chromosome-level assembly within the subgenus Rhododendron. In addition, a high-altitude adaptation strategy of R. nivale subsp. boreale was reasonably speculated. This study provides valuable data for the exploration of alpine mountaintop adaptations and the correlation between extreme environments and species polyploidization.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae028
Chao Yang, Zhenmiao Zhang, Yufen Huang, Xuefeng Xie, Herui Liao, Jin Xiao, Werner Pieter Veldsman, Kejing Yin, Xiaodong Fang, Lu Zhang
{"title":"LRTK: a platform agnostic toolkit for linked-read analysis of both human genome and metagenome.","authors":"Chao Yang, Zhenmiao Zhang, Yufen Huang, Xuefeng Xie, Herui Liao, Jin Xiao, Werner Pieter Veldsman, Kejing Yin, Xiaodong Fang, Lu Zhang","doi":"10.1093/gigascience/giae028","DOIUrl":"10.1093/gigascience/giae028","url":null,"abstract":"<p><strong>Background: </strong>Linked-read sequencing technologies generate high-base quality short reads that contain extrapolative information on long-range DNA connectedness. These advantages of linked-read technologies are well known and have been demonstrated in many human genomic and metagenomic studies. However, existing linked-read analysis pipelines (e.g., Long Ranger) were primarily developed to process sequencing data from the human genome and are not suited for analyzing metagenomic sequencing data. Moreover, linked-read analysis pipelines are typically limited to 1 specific sequencing platform.</p><p><strong>Findings: </strong>To address these limitations, we present the Linked-Read ToolKit (LRTK), a unified and versatile toolkit for platform agnostic processing of linked-read sequencing data from both human genome and metagenome. LRTK provides functions to perform linked-read simulation, barcode sequencing error correction, barcode-aware read alignment and metagenome assembly, reconstruction of long DNA fragments, taxonomic classification and quantification, and barcode-assisted genomic variant calling and phasing. LRTK has the ability to process multiple samples automatically and provides users with the option to generate reproducible reports during processing of raw sequencing data and at multiple checkpoints throughout downstream analysis. We applied LRTK on linked reads from simulation, mock community, and real datasets for both human genome and metagenome. We showcased LRTK's ability to generate comparative performance results from preceding benchmark studies and to report these results in publication-ready HTML document plots.</p><p><strong>Conclusions: </strong>LRTK provides comprehensive and flexible modules along with an easy-to-use Python-based workflow for processing linked-read sequencing datasets, thereby filling the current gap in the field caused by platform-centric genome-specific linked-read data analysis tools.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11170215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141310460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae035
Jonas Bömer, Felix Esser, Elias Marks, Radu Alexandru Rosu, Sven Behnke, Lasse Klingbeil, Heiner Kuhlmann, Cyrill Stachniss, Anne-Katrin Mahlein, Stefan Paulus
{"title":"A 3D printed plant model for accurate and reliable 3D plant phenotyping.","authors":"Jonas Bömer, Felix Esser, Elias Marks, Radu Alexandru Rosu, Sven Behnke, Lasse Klingbeil, Heiner Kuhlmann, Cyrill Stachniss, Anne-Katrin Mahlein, Stefan Paulus","doi":"10.1093/gigascience/giae035","DOIUrl":"10.1093/gigascience/giae035","url":null,"abstract":"<p><strong>Background: </strong>This study addresses the importance of precise referencing in 3-dimensional (3D) plant phenotyping, which is crucial for advancing plant breeding and improving crop production. Traditionally, reference data in plant phenotyping rely on invasive methods. Recent advancements in 3D sensing technologies offer the possibility to collect parameters that cannot be referenced by manual measurements. This work focuses on evaluating a 3D printed sugar beet plant model as a referencing tool.</p><p><strong>Results: </strong>Fused deposition modeling has turned out to be a suitable 3D printing technique for creating reference objects in 3D plant phenotyping. Production deviations of the created reference model were in a low and acceptable range. We were able to achieve deviations ranging from -10 mm to +5 mm. In parallel, we demonstrated a high-dimensional stability of the reference model, reaching only ±4 mm deformation over the course of 1 year. Detailed print files, assembly descriptions, and benchmark parameters are provided, facilitating replication and benefiting the research community.</p><p><strong>Conclusion: </strong>Consumer-grade 3D printing was utilized to create a stable and reproducible 3D reference model of a sugar beet plant, addressing challenges in referencing morphological parameters in 3D plant phenotyping. The reference model is applicable in 3 demonstrated use cases: evaluating and comparing 3D sensor systems, investigating the potential accuracy of parameter extraction algorithms, and continuously monitoring these algorithms in practical experiments in greenhouse and field experiments. Using this approach, it is possible to monitor the extraction of a nonverifiable parameter and create reference data. The process serves as a model for developing reference models for other agricultural crops.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11186670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae016
Bonson Wong, James M Ferguson, Jessica Y Do, Hasindu Gamaarachchi, Ira W Deveson
{"title":"Streamlining remote nanopore data access with slow5curl.","authors":"Bonson Wong, James M Ferguson, Jessica Y Do, Hasindu Gamaarachchi, Ira W Deveson","doi":"10.1093/gigascience/giae016","DOIUrl":"10.1093/gigascience/giae016","url":null,"abstract":"<p><strong>Background: </strong>As adoption of nanopore sequencing technology continues to advance, the need to maintain large volumes of raw current signal data for reanalysis with updated algorithms is a growing challenge. Here we introduce slow5curl, a software package designed to streamline nanopore data sharing, accessibility, and reanalysis.</p><p><strong>Results: </strong>Slow5curl allows a user to fetch a specified read or group of reads from a raw nanopore dataset stored on a remote server, such as a public data repository, without downloading the entire file. Slow5curl uses an index to quickly fetch specific reads from a large dataset in SLOW5/BLOW5 format and highly parallelized data access requests to maximize download speeds. Using all public nanopore data from the Human Pangenome Reference Consortium (>22 TB), we demonstrate how slow5curl can be used to quickly fetch and reanalyze raw signal reads corresponding to a set of target genes from each individual in large cohort dataset (n = 91), minimizing the time, egress costs, and local storage requirements for their reanalysis.</p><p><strong>Conclusions: </strong>We provide slow5curl as a free, open-source package that will reduce frictions in data sharing for the nanopore community: https://github.com/BonsonW/slow5curl.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11010652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae059
Guowei Chen, Jingzhe Jiang, Yanni Sun
{"title":"RNAVirHost: a machine learning-based method for predicting hosts of RNA viruses through viral genomes.","authors":"Guowei Chen, Jingzhe Jiang, Yanni Sun","doi":"10.1093/gigascience/giae059","DOIUrl":"10.1093/gigascience/giae059","url":null,"abstract":"<p><strong>Background: </strong>The high-throughput sequencing technologies have revolutionized the identification of novel RNA viruses. Given that viruses are infectious agents, identifying hosts of these new viruses carries significant implications for public health and provides valuable insights into the dynamics of the microbiome. However, determining the hosts of these newly discovered viruses is not always straightforward, especially in the case of viruses detected in environmental samples. Even for host-associated samples, it is not always correct to assign the sample origin as the host of the identified viruses. The process of assigning hosts to RNA viruses remains challenging due to their high mutation rates and vast diversity.</p><p><strong>Results: </strong>In this study, we introduce RNAVirHost, a machine learning-based tool that predicts the hosts of RNA viruses solely based on viral genomes. RNAVirHost is a hierarchical classification framework that predicts hosts at different taxonomic levels. We demonstrate the superior accuracy of RNAVirHost in predicting hosts of RNA viruses through comprehensive comparisons with various state-of-the-art techniques. When applying to viruses from novel genera, RNAVirHost achieved the highest accuracy of 84.3%, outperforming the alignment-based strategy by 12.1%.</p><p><strong>Conclusions: </strong>The application of machine learning models has proven beneficial in predicting hosts of RNA viruses. By integrating genomic traits and sequence homologies, RNAVirHost provides a cost-effective and efficient strategy for host prediction. We believe that RNAVirHost can greatly assist in RNA virus analyses and contribute to pandemic surveillance.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae057
Thomas Roetzer-Pejrimovsky, Karl-Heinz Nenning, Barbara Kiesel, Johanna Klughammer, Martin Rajchl, Bernhard Baumann, Georg Langs, Adelheid Woehrer
{"title":"Deep learning links localized digital pathology phenotypes with transcriptional subtype and patient outcome in glioblastoma.","authors":"Thomas Roetzer-Pejrimovsky, Karl-Heinz Nenning, Barbara Kiesel, Johanna Klughammer, Martin Rajchl, Bernhard Baumann, Georg Langs, Adelheid Woehrer","doi":"10.1093/gigascience/giae057","DOIUrl":"10.1093/gigascience/giae057","url":null,"abstract":"<p><strong>Background: </strong>Deep learning has revolutionized medical image analysis in cancer pathology, where it had a substantial clinical impact by supporting the diagnosis and prognostic rating of cancer. Among the first available digital resources in the field of brain cancer is glioblastoma, the most common and fatal brain cancer. At the histologic level, glioblastoma is characterized by abundant phenotypic variability that is poorly linked with patient prognosis. At the transcriptional level, 3 molecular subtypes are distinguished with mesenchymal-subtype tumors being associated with increased immune cell infiltration and worse outcome.</p><p><strong>Results: </strong>We address genotype-phenotype correlations by applying an Xception convolutional neural network to a discovery set of 276 digital hematozylin and eosin (H&E) slides with molecular subtype annotation and an independent The Cancer Genome Atlas-based validation cohort of 178 cases. Using this approach, we achieve high accuracy in H&E-based mapping of molecular subtypes (area under the curve for classical, mesenchymal, and proneural = 0.84, 0.81, and 0.71, respectively; P < 0.001) and regions associated with worse outcome (univariable survival model P < 0.001, multivariable P = 0.01). The latter were characterized by higher tumor cell density (P < 0.001), phenotypic variability of tumor cells (P < 0.001), and decreased T-cell infiltration (P = 0.017).</p><p><strong>Conclusions: </strong>We modify a well-known convolutional neural network architecture for glioblastoma digital slides to accurately map the spatial distribution of transcriptional subtypes and regions predictive of worse outcome, thereby showcasing the relevance of artificial intelligence-enabled image mining in brain cancer.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11345537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mechanisms of hepatic steatosis in chickens: integrated analysis of the host genome, molecular phenomics and gut microbiome.","authors":"Congjiao Sun, Fangren Lan, Qianqian Zhou, Xiaoli Guo, Jiaming Jin, Chaoliang Wen, Yanxin Guo, Zhuocheng Hou, Jiangxia Zheng, Guiqin Wu, Guangqi Li, Yiyuan Yan, Junying Li, Qiugang Ma, Ning Yang","doi":"10.1093/gigascience/giae023","DOIUrl":"10.1093/gigascience/giae023","url":null,"abstract":"<p><p>Hepatic steatosis is the initial manifestation of abnormal liver functions and often leads to liver diseases such as nonalcoholic fatty liver disease in humans and fatty liver syndrome in animals. In this study, we conducted a comprehensive analysis of a large chicken population consisting of 705 adult hens by combining host genome resequencing; liver transcriptome, proteome, and metabolome analysis; and microbial 16S ribosomal RNA gene sequencing of each gut segment. The results showed the heritability (h2 = 0.25) and duodenal microbiability (m2 = 0.26) of hepatic steatosis were relatively high, indicating a large effect of host genetics and duodenal microbiota on chicken hepatic steatosis. Individuals with hepatic steatosis had low microbiota diversity and a decreased genetic potential to process triglyceride output from hepatocytes, fatty acid β-oxidation activity, and resistance to fatty acid peroxidation. Furthermore, we revealed a molecular network linking host genomic variants (GGA6: 5.59-5.69 Mb), hepatic gene/protein expression (PEMT, phosphatidyl-ethanolamine N-methyltransferase), metabolite abundances (folate, S-adenosylmethionine, homocysteine, phosphatidyl-ethanolamine, and phosphatidylcholine), and duodenal microbes (genus Lactobacillus) to hepatic steatosis, which could provide new insights into the regulatory mechanism of fatty liver development.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"13 ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11152177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}