BMC Genomics最新文献

{"title":"Multi-tissue metabolomic profiling reveals the crucial metabolites and pathways associated with scallop growth.","authors":"Yihan Zhang, Huizhen Wang, Shiqi Liu, Xiangfu Kong, Lirong Chang, Liang Zhao, Zhenmin Bao, Xiaoli Hu","doi":"10.1186/s12864-024-11016-4","DOIUrl":"10.1186/s12864-024-11016-4","url":null,"abstract":"<p><strong>Background: </strong>Bivalves represent a vital economic resource in aquaculture for their high productivity and extensive market demand. Growth is one of the most important and desired aquaculture traits for bivalves, regulated by multiple levels, notably intricate metabolic processes. However, the understanding of the metabolic profiles that influence bivalve growth is limited, particularly from a multi-tissue perspective.</p><p><strong>Results: </strong>In this study, metabolic profiles of multiple tissues of Chlamys farreri with different growth performance were systematically investigated by ultraperformance liquid chromatography quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF-MS). Through comparing the metabolic variation between fast-growing (FG) scallops and slow-growing (SG) scallops, 613, 509, 105, and 192 significantly different metabolites (SDMs) were identified in the mantle, gill, adductor muscle, and digestive gland, respectively. Growth-related metabolic pathways including sphingolipid metabolism, fatty acid biosynthesis, and ABC transporter pathway, along with 11 SDMs associated with growth traits were identified in all four tissues, implying they were involved in the growth of multiple tissues in scallops. Tissue-specific metabolic profiling indicated that sulfur-containing amino acid metabolism in the mantle potentially contributed to shell growth, while the gill synergistically participated with the mantle through various metabolic processes, such as tyrosine metabolism, glycine, serine, and threonine metabolism and melanogenesis; energy metabolism was crucial for adductor muscle growth; and nutrients digestion and absorption in the digestive gland were linked to scallop growth.</p><p><strong>Conclusions: </strong>Our results represent the first comprehensive analysis of the crucial pathways and metabolites associated with the growth of C. farreri, offering valuable insights for future bivalve aquaculture production.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1091"},"PeriodicalIF":3.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643637","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 chloroplast genome of Cephalanthera nanchuanica (Orchidaceae): comparative and phylogenetic analysis with other Neottieae species.","authors":"Ling Li-Zhen, Tang Dong-Yan, Ding Wu-Fu, Zhang Shu-Dong","doi":"10.1186/s12864-024-11004-8","DOIUrl":"10.1186/s12864-024-11004-8","url":null,"abstract":"<p><strong>Background: </strong>Cephalanthera nanchuanica is a terrestrial orchid species and has been red listed as a second-grade protected plant due to its limited distributions in China. Initially classified within a monotypic genus Tangtsinia, this species was later reassigned to Cephalanthera based on morphological and molecular data. However, previous phylogenetic analyses of Cephalanthera using several segment sequences exhibited a low discriminatory power in delineating its relationships.</p><p><strong>Results: </strong>In this study, we characterized and comparatively analyzed the complete chloroplast (cp) genome of C. nanchuanica with those of six previously reported Cephalanthera species. Our findings revealed that the cp genome of C. nanchuanica had the typical quadripartite structure, with a size of 161,365 bp and a GC content of 37.27%. A total of 113 unique genes were annotated, among which nearly half of protein-encoding genes (RSCU > 1) showed a preference in codon usage. No structural rearrangements were observed among the cp genomes of Cephalanthera species, except for C. humilis, which displayed structural alterations due to gene loss, relocation, and inverted repeat (IR) expansion/contraction. The cp genomes of Cephalanthera species were highly conserved, with only a small number of SSRs detected, most of which preferred A/T bases. Comparative analysis of cp genomes indicated that IR and coding regions were less divergent than single copy and non-coding regions and eight mutational hotspots were identified. Phylogenetic analysis suggested that the tribe Neottieae was a monophyletic group, divided into five clades. Palmorchis was the earliest-diverging lineage, followed by Cephalanthera. Diplandrorchis was deeply nested within Neottia, forming a clade. Aphyllorchis and Limodorum formed another clade, sister to Epipactis. Within the Cephalanthera clade, C. nanchuanica was sister to C. falcata with a strong support.</p><p><strong>Conclusions: </strong>This study demonstrated that the cp genome characters of C. nanchuanica are highly similar to those of other Cephalanthera species, except for the mycoheterotrophic species C. humilis. Although the cp genomes of Cephalanthera species (excluding C. humilis) exhibited conservation in genome structure and sequence, SSR repeats and mutational hotspots were identified, which could potentially serve as as molecular markers for distinguishing Cephalanthera species. The phylogenetic analysis based on the protein-coding genes provided high-resolution support for the infrageneric classification. Therefore, cp genome data will be instrumental in resolving the phylogeny of the genus Cephalanthera.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1090"},"PeriodicalIF":3.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638352","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":"Whole-genome sequencing of copy number variation analysis in Ethiopian cattle reveals adaptations to diverse environments.","authors":"Wondossen Ayalew, Wu Xiaoyun, Getinet Mekuriaw Tarekegn, Tesfaye Sisay Tessema, Min Chu, Chunnian Liang, Rakan Naboulsi, Renaud Van Damme, Erik Bongcam-Rudloff, Yan Ping","doi":"10.1186/s12864-024-10936-5","DOIUrl":"10.1186/s12864-024-10936-5","url":null,"abstract":"<p><strong>Background: </strong>Genomic structural variations (GSVs), notably copy number variations (CNVs), significantly shape genetic diversity and facilitate adaptation in cattle populations. Despite their importance, the genome-wide characterization of CNVs in indigenous Ethiopian cattle breeds-Abigar, Fellata, and Gojjam-Highland remains largely unexplored. In this study, we applied a read-depth approach to whole genome sequencing (WGS) data to conduct the first comprehensive analysis of CNVs in these populations.</p><p><strong>Results: </strong>We identified 3,893 CNV regions (CNVRs) covering 19.15 Mb (0.71% of the cattle genome). These CNVRs ranged from 1.60 kb to 488.0 kb, with an average size of 4.92 kb. These CNVRs included deletions (1713), duplications (1929), and mixed events (251) showing notable differences in distribution among the breeds. Four out of five randomly selected CNVRs were successfully validated using real time polymerase chain reaction (qPCR). Further analyses identified candidate genes associated with high-altitude adaptation (GBE1 and SOD1), heat stress adaptation (HSPA13, DNAJC18, and DNAJC8) and resistance to tick infestations (BoLA and KRT33A). In addition, variance stabilizing transformation (V_ST) statistics highlighted population-specific CNVRs, emphasizing the unique genetic signatures of high-altitude adaptation in the Gojjam-Highland cattle breed. Among the detected CNVRs, 4.93% (192 out of 3,893) overlapped with 520 quantitative traits loci (QTLs) associated with six economically important trait categories suggesting that these CNVRs may significantly contribute to the genetic variation underlying these traits.</p><p><strong>Conclusions: </strong>Our comprehensive analysis reveals significant CNVRs associated with key adaptive traits in Ethiopian cattle breeds highlighting their genetic diversity and resilience. These findings offer valuable insights into the genetic basis of adaptability and can inform sustainable breeding practices and conservation efforts. Future research should prioritize the functional validation of these CNVRs and their integration into breeding programs to enhance traits such as disease resistance and environmental adaptability.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1088"},"PeriodicalIF":3.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638354","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":"Unraveling the DNA methylation landscape in dog blood across breeds.","authors":"Miyuki Nakamura, Yuki Matsumoto, Keiji Yasuda, Masatoshi Nagata, Ryo Nakaki, Masahiro Okumura, Jumpei Yamazaki","doi":"10.1186/s12864-024-10963-2","DOIUrl":"10.1186/s12864-024-10963-2","url":null,"abstract":"<p><strong>Background: </strong>DNA methylation is a covalent bond modification that is observed mainly at cytosine bases in the context of CG pairs. DNA methylation patterns reflect the status of individual tissues, such as cell composition, age, and the local environment, in mammals. Genetic factors also impact DNA methylation, and the genetic diversity among various dog breeds provides a valuable platform for exploring this topic. Compared to those in the human genome, studies on the profiling of methylation in the dog genome have been less comprehensive.</p><p><strong>Results: </strong>Our study provides extensive profiling of DNA methylation in the whole blood of three dog breeds using whole-genome bisulfite sequencing. The difference in DNA methylation between breeds was moderate after removing CpGs overlapping with potential genetic variation. However, variance in methylation between individuals was common and often occurred in promoters and CpG islands (CGIs). Moreover, we adopted contextual awareness methodology to characterize DNA primary sequences using natural language processing (NLP). This method could be used to effectively separate unmethylated CGIs from highly methylated CGIs in the sequences that are identified by the conventional criteria.</p><p><strong>Conclusions: </strong>This study presents a comprehensive DNA methylation landscape in the dog blood. Our observations reveal the similar methylation patterns across dog breeds, while CGI regions showed high variations in DNA methylation level between individuals. Our study also highlights the potential of NLP approach for analyzing low-complexity DNA sequences, such as CGIs.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1089"},"PeriodicalIF":3.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638353","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":"Transcriptional profiling of the M. complexus in naked neck chickens suggest a direct pleiotropic effect of GDF7 on feathering and reduced hatchability.","authors":"Alexander Charles Mott, Carina Blaschka, Andrea Mott, Clemens Falker-Gieske","doi":"10.1186/s12864-024-10965-0","DOIUrl":"10.1186/s12864-024-10965-0","url":null,"abstract":"<p><strong>Background: </strong>The locus for naked neck (Na) in chickens reduces feather coverage and leads to increased heat dissipation from the body surface resulting in better adaptability to hot conditions. However, the Na gene is linked to significantly lower hatchability due to an increased late embryonic mortality. It has been argued that the causative gene GDF7 may have a direct pleiotropic effect on hatchability via its effect on muscle development. Thus, the study presented here analyses the transcriptome of the hatching muscle (M. complexus) and shows how GDF7 impacts development leading to reduced hatching rates in Na chickens.</p><p><strong>Results: </strong>Using 12 chicken embryos (6 x wildtype (Wt) and 6 x Na) RNA was extracted from the M. complexus of each embryo and sequenced. The resulting differential expression analyses led to the discovery of 461 differentially expressed (DE) genes in the M. complexus of the experimental group. Among those, 77 genes were of uncertain function (LOC symbols), with 31 were classified as uncharacterised. The regulation of a number of pathways involved in normal embryonic development, were found to be negatively influenced by the Na genotype. Further pathways involved in cell-cell adhesion, cell signalling pathways, and amino acid (AA) metabolism/transport were also observed. GDF7 (alias BMP12), whose localised overexpression in the neck skin causes the Na/Na phenotype, was significantly overexpressed in the M. complexus of Na/Na embryos, and shows a significant increase in the number of binding sites for the transcription factor PITX2 was also observed.</p><p><strong>Conclusion: </strong>In Na chickens, GDF7 is under the control of a mutated cis-regulatory element, whose actions are known to suppress the development and distribution of feathers through the sensitizing action of retinoic acid. In this study, a number of DE genes with over 10 retinoic acid response elements (RAREs) in close proximity were observed, indicating changes to the retinol metabolism. With the understanding that the Na/Na mutation leads to increased retinoic acid activity, this indicates a high likelihood of GDF7 excerpting a direct pleiotropic effect, not just in the observed reduction in feather patterning, but also impacting the development of the M.complexus, and consequently leading to the reduced hatchability observed in birds with the Na/Na genotype. Furthermore, the enrichment of PITX2 binding sites in proximity to DE genes in the M. complexus, also indicates that muscle development is still ongoing in Na embryos. This suggests that the M. complexus is not yet fully developed, further increasing the potential for late embryonic mortality in Na chicks at hatching.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1092"},"PeriodicalIF":3.5,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643639","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":"Comparison of commonly used software pipelines for analyzing fungal metabarcoding data.","authors":"Theresa Rzehak, Nadine Praeg, Giulio Galla, Julia Seeber, Heidi Christine Hauffe, Paul Illmer","doi":"10.1186/s12864-024-11001-x","DOIUrl":"10.1186/s12864-024-11001-x","url":null,"abstract":"<p><strong>Background: </strong>Metabarcoding targeting the internal transcribed spacer (ITS) region is commonly used to characterize fungal communities of various environments. Given their size and complexity, raw ITS sequences are necessarily processed and quality-filtered with bioinformatic pipelines. However, such pipelines are not yet standardized, especially for fungal communities, and those available may produce contrasting results. While some pipelines cluster sequences based on a specified percentage of base pair similarity into operational taxonomic units (OTUs), others utilize denoising techniques to infer amplicon sequencing variants (ASVs). While ASVs are now considered a more accurate representation of taxonomic diversity for prokaryote communities based on 16S rRNA amplicon sequencing, the applicability of this method for fungal ITS sequences is still debated.</p><p><strong>Results: </strong>Here we compared the performance of two commonly used pipelines DADA2 (inferring ASVs) and mothur (clustering OTUs) on fungal metabarcoding sequences originating from two different environmental sample types (fresh bovine feces and pasture soil). At a 99% OTU similarity threshold, mothur consistently identified a higher fungal richness compared to DADA2. In addition, mothur generated homogenous relative abundances across multiple technical replicates (n = 18), while DADA2 results for the same replicates were highly heterogeneous.</p><p><strong>Conclusions: </strong>Our study highlights a potential pipeline-associated bias in fungal metabarcoding data analysis of environmental samples. Based on the homogeneity of relative abundances across replicates and the capacity to detect OTUs/ASVs, we suggest using OTU clustering with a similarity of 97% as the most appropriate option for processing fungal metabarcoding data.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1085"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614301","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":"Metabolomic and transcriptomic analyses reveals candidate genes and pathways involved in secondary metabolism in Bergenia purpurascens.","authors":"Qiankun Zhu, Yufeng Wu, Xuebin Zhang, Nuomei Xu, Jingyu Chen, Xin Lyu, Hongyan Zeng, Fang Yu","doi":"10.1186/s12864-024-10953-4","DOIUrl":"10.1186/s12864-024-10953-4","url":null,"abstract":"<p><p>Bergenia purpurascens is an important medicinal, edible and ornamental plant. The lack of omics information hinders the study of its metabolic pathways and related genes. In order to investigate candidate genes and pathways involved in secondary metabolism in B. purpurascens, roots, stems and leaves of B. purpurascens were subjected to metabolomic and transcriptomic analyses in this study. A total of 351 differentially accumulated secondary metabolites were identified. We identified 120 candidate genes involved in phenylpropanoid and flavonoid biosynthesis pathway, from which 29 key candidate genes were obtained by WGCNA. Five UDP-Glycosyltransferases and four O-methyltransferases were suggested to be the candidate enzymes involved in synthetic pathway from gallic acid to bergenin by correlation analysis between transcriptional and metabolic levels and phylogenetic analysis. This study provides data resources and new insights for further studies on the biosynthesis of major active components in B. purpurascens.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1083"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613717","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":"Whole-genome sequencing reveals genetic structure and adaptive genes in Nepalese buffalo breeds.","authors":"Aashish Dhakal, Jingfang Si, Saroj Sapkota, Alfredo Pauciullo, Jianlin Han, Neena Amatya Gorkhali, Xingbo Zhao, Yi Zhang","doi":"10.1186/s12864-024-10993-w","DOIUrl":"10.1186/s12864-024-10993-w","url":null,"abstract":"<p><strong>Background: </strong>Indigenous buffaloes, as the important livestock species contributing to economy of the country, are the lifeline of livelihood in Nepal. They are distributed across diverse geographical regions of the country and have adapted to various feeding, breeding, and management conditions. The larger group of these native buffalo breeds are present in narrow and stiff hilly terrains. Their dispersal indicates a possible environmental adaptation mechanism, which is crucial for the conservation of these breeds.</p><p><strong>Results: </strong>We utilized whole-genome sequencing (WGS) to investigate the genetic diversity, population structure, and selection signatures of Nepalese indigenous buffaloes. We compared 66 whole-genome sequences with 118 publicly available sequences from six river and five swamp buffalo breeds. Genomic diversity parameters indicated genetic variability level in the Nepalese buffaloes comparable to those of Indian breeds, and population genetic structure revealed distinct geography-mediated genetic differentiation among these breeds. We used locus-specific branch length analysis (LSBL) for genome-wide scan, which revealed a list of potentially selected genes in Lime and Parkote breeds that inhabit the hilly region. A gene ontology (GO) analysis discovered that many GO terms were associated with cardiac function regulation. Furthermore, complementary analyses of local selection signatures, tissue expression profiles, and haplotype differences identified candidate genes, including KCNE1, CSF1R, and PDGFRB, related to the regulation of cardiac and pulmonary functions.</p><p><strong>Conclusions: </strong>This study is a comprehensive WGS-based genetic analysis of the native Nepalese buffalo breeds. Our study suggested that the Nepalese \"hilly\" buffaloes, especially the Lime and Parkote breeds, have undergone some characteristic genetic changes and evolved increased cardiac and pulmonary function for their adaptation to the steep hilly terrains of the country.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1082"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613954","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":"Drastic variation in mitochondrial genome organization between two congeneric species of bird lice (Philopteridae: Ibidoecus).","authors":"Mei-Ling Cao, Yu Nie, Xi-Long Yi, Jun Xiong, Wei Wang, Yuan-Ping Deng, Yi-Tian Fu, Guo-Hua Liu, Renfu Shao","doi":"10.1186/s12864-024-11005-7","DOIUrl":"10.1186/s12864-024-11005-7","url":null,"abstract":"<p><p>The over 4,100 species of bird lice are classified into 214 genera in the parvorders Amblycera and Ischnocera. Congeneric species of bird lice usually share much similarity in morphology and in mitochondrial (mt) genome organization. Two recent studies, however, reported substantial intra-genus variation in mt genome organization in bird lice. Both the ancestral single-chromosome mt genome and a fragmented mt genome with two or three minichromosomes were observed in the genera Austromenopon and Laemobothrion. To better understand intra-genus variation in mt genome organization, we sequenced the complete mt genome of the white spoonbill louse Ibidoecus plataleae and compared it with that of the glossy ibis feather louse Ibidoecus bisignatus reported previously. We found that I. plataleae had a fragmented mt genome with 12 minichromosomes; each minichromosome was 2,798 to 3,628 bp in size and had 2 to 6 genes. This is in stark contrast to the mt genome of I. bisignatus, which has all genes on a single chromosome, 14,909 bp in size. This is the most drastic intra-genus variation in mt genome organization observed to date in animals, indicating an unprecedented rapid process of mt genome fragmentation in the genus Ibidoecus. The divergence time between I. plataleae and I. bisignatus is currently unknown but is estimated to be less than 23 million years. Either many minichromosal split events occurred after I. plataleae diverged from I. bisignatus, or one minichromosome splits into multiple minichromosomes in a single event. Sequencing and comparing more Ibidoecusi species will help understand the unusual mt genome fragmentation in this genus.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1084"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614309","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":"Addressing statistical challenges in the analysis of proteomics data with extremely small sample size: a simulation study.","authors":"Kyung Hyun Lee, Shervin Assassi, Chandra Mohan, Claudia Pedroza","doi":"10.1186/s12864-024-11018-2","DOIUrl":"10.1186/s12864-024-11018-2","url":null,"abstract":"<p><strong>Background: </strong>One of the most promising approaches for early and more precise disease prediction and diagnosis is through the inclusion of proteomics data augmented with clinical data. Clinical proteomics data is often characterized by its high dimensionality and extremely limited sample size, posing a significant challenge when employing machine learning techniques for extracting only the most relevant information. Although there is a wide array of statistical techniques and numerous analysis pipelines employed in proteomics data analysis, it is unclear which of these methods produce the most efficient, reproducible, and clinically meaningful results.</p><p><strong>Results: </strong>In this study, we compared 9 unique analysis schemes comprised of different machine learning and dimensionality reduction methods for the analysis of simulated proteomics data consisting of 1317 proteins measured in 26 subjects (i.e., 13 controls and 13 cases). In scenarios where the sample size is extremely small (i.e., n < 30), all schemes resulted in an exceptionally high level of performance metrics, indicating potential overfitting. While performance metrics did not exhibit significant differences across schemes, the set of proteins selected to be discriminatory between groups demonstrated a substantial level of heterogeneity. However, despite heterogeneity in the selected proteins, their biological pathways and genetic diseases exhibited similarities. A sensitivity analysis conducted using varying sample sizes indicated that the stability of a set of selected biomarkers improves with larger sample sizes within a scheme.</p><p><strong>Conclusions: </strong>When the aim of the study is to identify a statistical model that best distinguishes between cohort groups using proteomics data and to uncover the biological pathways and disorders common among the selected proteins, the majority of widely used analysis pipelines perform similarly. However, if the main objective is to pinpoint a set of selected proteins that wield significant influence in discriminating cohort groups and utilize them for subsequent investigations, meticulous consideration is necessary when opting for statistical models, due to the possibility of heterogeneity in the sets of selected proteins.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"25 1","pages":"1086"},"PeriodicalIF":3.5,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11566501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614215","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}