GenomePub Date : 2025-01-01DOI: 10.1139/gen-2024-0090
Tatiana V Danilova, Alina R Akhunova, Xiwen Cai
{"title":"Comparative analysis of <i>Aegilops speltoides</i> and wheat repetitive elements and development of S genome-specific FISH painting.","authors":"Tatiana V Danilova, Alina R Akhunova, Xiwen Cai","doi":"10.1139/gen-2024-0090","DOIUrl":"10.1139/gen-2024-0090","url":null,"abstract":"<p><p><i>Aegilops speltoides</i> (2<i>n</i> = 2<i>x</i> = 14, genome SS) is a wild relative of wheat and a donor of useful traits for wheat improvement. Several whole-genome studies compared genic regions of <i>Aegilops</i> from the <i>Sitopsis</i> section and wheat and found that <i>Ae. speltoides</i> is most closely related to the wheat B subgenome but is not its direct progenitor. The results showed that a B subgenome ancestor diverged from <i>Ae. speltoides</i> more than 4 MYA and either has not yet been discovered, or is extinct. To further explore the evolutionary relationship between wheat and <i>Ae. speltoides</i> and develop <i>Ae. speltoides</i> chromosome paints, we performed comparative analysis of repetitive fractions of the S genome and three subgenomes of hexaploid wheat. The low-coverage sequence data were analyzed with RepeatExplorer pipeline to annotate repeats and estimate their content. The LTR-retrotransposons comprised about 80% of repeats in <i>Ae. speltoides</i> and wheat datasets and about two-third of them were LTR/Ty3-Gypsy. <i>Ae. speltoides</i> had 1.5 times more LTR/Ty-Copia repeats and 1.5 times less DNA transposons than wheat subgenomes. Several S genome-specific dispersed repeats were found and annotated. Their sequences were used to develop S genome-specific paints for detecting <i>Ae. speltoides</i> chromatin in the wheat background using fluorescent in situ hybridization.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-12"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01Epub Date: 2024-10-29DOI: 10.1139/gen-2024-0085
Rodrigo Zeni Dos Santos, Caio Augusto Gomes Goes, José Henrique Forte Stornioli, Francisco de Menezes Cavalcante Sassi, Renata Luiza Rosa de Moraes, Jorge Abdala Dergam, Fábio Porto-Foresti, Marcelo de Bello Cioffi, Ricardo Utsunomia
{"title":"Comparative satellite DNA mapping in species of the genus <i>Prochilodus</i> (Teleostei, Characiformes) and its evolutionary implications.","authors":"Rodrigo Zeni Dos Santos, Caio Augusto Gomes Goes, José Henrique Forte Stornioli, Francisco de Menezes Cavalcante Sassi, Renata Luiza Rosa de Moraes, Jorge Abdala Dergam, Fábio Porto-Foresti, Marcelo de Bello Cioffi, Ricardo Utsunomia","doi":"10.1139/gen-2024-0085","DOIUrl":"10.1139/gen-2024-0085","url":null,"abstract":"<p><p>Satellite DNA (satDNA) sequences are dynamic components of the eukaryotic genome that can play significant roles in species diversification. The Prochilodontidae family, which includes 21 Neotropical fish species, is characterized by a conserved karyotype of 2<i>n</i> = 54 biarmed chromosomes, with variation in some species and populations regarding the presence or absence of B chromosomes. This study aimed to investigate whether the chromosomal distribution of specific satDNA sequences is conserved among three <i>Prochilodus</i> species (<i>Prochilodus lineatus, Prochilodus costatus</i>, and <i>Prochilodus argenteus</i>) regarding organization and number of <i>loci</i>, and to compare their genomes using comparative genomic hybridization (CGH). Our results demonstrated that most satDNA sequences share a similar distribution pattern across the three species, and CGH analysis corroborated that their karyotypes are very similar in terms of repetitive DNA distribution. We also identified a potential CENP-B box sequence within PliSat01, a satDNA located in the pericentromeric region of all analyzed species. In contrast, PliSat04 and PliSat14 displayed differential locations and variations in the number of <i>loci</i> per genome, underscoring the dynamic nature of repetitive sequences even in species with otherwise highly conserved genomes. These findings represent the first evidence of karyotype diversification in <i>Prochilodus</i>, highlighting the evolutionary dynamism of satDNA sequences.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01Epub Date: 2024-12-12DOI: 10.1139/gen-2024-0121
Sarah Dada, Katherine Dixon, Vahid Akbari, Cameron J Grisdale, Kristina Calli, Sally Martell, Caralyn Reisle, Amanda Lillico-Ouachour, M E Suzanne Lewis, Steven J M Jones
{"title":"Uncovering the complexity of structural variants in four individuals with autism spectrum disorder.","authors":"Sarah Dada, Katherine Dixon, Vahid Akbari, Cameron J Grisdale, Kristina Calli, Sally Martell, Caralyn Reisle, Amanda Lillico-Ouachour, M E Suzanne Lewis, Steven J M Jones","doi":"10.1139/gen-2024-0121","DOIUrl":"10.1139/gen-2024-0121","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is an increasingly recognized childhood developmental disorder. Despite extensive study, causal variants and molecular diagnosis remain elusive. There is both heterogeneity of the phenotype, as well as the genetic landscape associated with phenotype, which includes both inherited and de novo mutations. Currently, diagnosis is complex and behaviourally based, oftentimes occurring years after the ideal 1-2 years of age. Structural variants (SVs) are large and sometimes complex genomic variants that are likely underrepresented contributors to ASD due to the limitations of short-read DNA sequencing, such as alignment in repetitive regions and regions with GC bias. Here, we performed long-read sequencing (LRS) on four individuals with autism spectrum disorder to delineate SV complexity and determine precise breakpoints for SVs, which was not possible with short-read whole-genome sequencing (SRS). We use LRS to interrogate the methylation pattern associated with the SVs and phase the SV haplotypes to further clarify their contribution to disorder. LRS allows insight into the genome and methylome that allow us to uncover variant complexity and contribution that was previously unseen with SRS. Ultimately, this furthers precision diagnosis and contributes to individualized treatment for affected individuals and their families within the clinic.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2024-0145
Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong
{"title":"Detection of polymorphisms in the prion-like protein Doppel (<i>PRND</i>) gene in Jeju black cattle.","authors":"Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong","doi":"10.1139/gen-2024-0145","DOIUrl":"10.1139/gen-2024-0145","url":null,"abstract":"<p><p>Prion protein (PrP) plays a central role in bovine spongiform encephalopathy (BSE). Given the structural and biological similarity to PrP, recent research has focused on Doppel (Dpl) protein, which is encoded by the prion-like protein Doppel (<i>PRND</i>) gene. In this study, we characterized the <i>PRND</i> genetic polymorphism in 100 Jeju black cattle, a native Korean breed. We predicted the potential effect of nonsynonymous single nucleotide polymorphisms (SNPs) on the Dpl protein function using three in silico tools: SIFT, PANTHER, and PolyPhen-2. Finally, we performed a comparative analysis of the genotype distribution of c.395A>G (Q132R) between German BSE-infected cattle and Korean healthy cattle to assess the BSE susceptibility of Korean cattle. We found eight SNPs, including three novel SNPs c.-7C>T, c.172G>A (A58T), and c.537+83C>T. Only c.172G>A was predicted by SIFT to exert a deleterious effect. According to the comparative analysis, Holstein and Jeju black cattle exhibited a higher potential risk for BSE. To the best of our knowledge, this is the first report on the genetic characteristics of the <i>PRND</i> gene in Jeju black cattle.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-7"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2023-0099
Gurpreet S Kharey, Vince Palace, Lyle Whyte, Charles W Greer
{"title":"Pangenomic analysis of three putative hydrocarbon degrading genera <i>Limnohabitans, Aquabacterium</i>, and <i>Novosphingobium</i> collected from freshwater sources.","authors":"Gurpreet S Kharey, Vince Palace, Lyle Whyte, Charles W Greer","doi":"10.1139/gen-2023-0099","DOIUrl":"10.1139/gen-2023-0099","url":null,"abstract":"<p><p>A pangenome analysis offers a unique exploration of the metabolic and genetic diversity, range of ecological niches, and evolution of a particular genus or species. However, such pangenomic analyses are uncommon among environmentally relevant genera. Here, we present freshwater pangenomes of three environmentally relevant genera, <i>Limnohabitans, Aquabacterium</i>, and <i>Novosphingobium.</i> These genera had been detected in hydrocarbon degrading cultures in previous research by our group. Using pangenomic tools we attempted to characterize the extent of hydrocarbon degradation potential within each pangenome and determine what ecological niche each genus occupies within hydrocarbon degradation. In total 46 <i>Limnohabitans</i>, 10 <i>Aquabacterium</i>, and 32 <i>Novosphingobium</i> freshwater genomes were collected from various databases and compiled into pangenomes. We found that each pangenome harbours downstream hydrocarbon degrading potential and unexpected genetic diversity within its core and accessory pangenomes possibly stemming from geographic and metagenomic data processing influences. This work was the first to explore pangenomes of these environmentally relevant genera.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-17"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2024-0172
{"title":"Note of appreciation.","authors":"","doi":"10.1139/gen-2024-0172","DOIUrl":"https://doi.org/10.1139/gen-2024-0172","url":null,"abstract":"","PeriodicalId":12809,"journal":{"name":"Genome","volume":"68 ","pages":"1"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2024-0146
Sen Wang, Fan Wang, Lei Wang, Zhiyuan Bao, Jiawei Cai, Bohao Zhao, Xinsheng Wu, Yang Chen
{"title":"Analysis of apoptosis levels and MMP7 gene expression in ovaries of postpartum female rabbits after long-term use of LHRH-A3.","authors":"Sen Wang, Fan Wang, Lei Wang, Zhiyuan Bao, Jiawei Cai, Bohao Zhao, Xinsheng Wu, Yang Chen","doi":"10.1139/gen-2024-0146","DOIUrl":"https://doi.org/10.1139/gen-2024-0146","url":null,"abstract":"<p><p>Luteinizing hormone-releasing hormone A3 (LHRH-A3), a reproductive hormone analog, is widely used to stimulate ovulation in female rabbits. However, the long-term impact of sustained LHRH-A3 administration on the reproductive system, particularly ovarian health, remains unclear. In this study, we compared apoptosis levels in ovaries and molecular regulation between LHRH-A3-treated (A3 group) and untreated female rabbits (N group) after their 5th litter. Western blotting showed a significantly lower Bcl-2/Bax ratio in the A3 group compared with the N group (<i>P</i> < 0.01), indicating higher ovarian apoptosis. Ovarian tissues from four rabbits per group were divided into the A3 group and the N group, and RNA-seq technology was then utilized to conduct transcriptome analysis on these two groups. This analysis revealed 220 differentially expressed genes (DEGs), including <i>BMP6, BMP15, CYP1A1</i>, and other reproductive-related genes. KEGG analysis of these DEGs showed their involvement in processes such as the cell cycle, PI3K-Akt signaling pathway, and ovarian steroidogenesis. Subsequently, we selected the key gene <i>Matrix metallopeptidase 7</i> (<i>MMP7</i>) for functional analysis using CCK8 and Annexin V-FITC/PI techniques. <i>MMP7</i> was found to promote the proliferation of granulosa cells (GCs) and inhibit apoptosis (<i>P</i> < 0.01). In conclusion, LHRH-A3 treatment can modulate ovarian molecular regulation, with the key gene <i>MMP7</i> involved in the proliferation and apoptosis of GCs.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":"68 ","pages":"1-10"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2024-0129
Ran Bi, Leyao Xiao, Lei Zhao, Bret L Coggins, Sen Xu, Michael E Pfrender, Mingbo Yin
{"title":"Understanding the genomics responses of freshwater zooplanktons to salinization: a research hotspot in a saltier world.","authors":"Ran Bi, Leyao Xiao, Lei Zhao, Bret L Coggins, Sen Xu, Michael E Pfrender, Mingbo Yin","doi":"10.1139/gen-2024-0129","DOIUrl":"10.1139/gen-2024-0129","url":null,"abstract":"<p><p>The worldwide salinization of freshwater ecosystems poses a major threat to the biodiversity, functioning and services that these essential ecosystems provide. We are far from fully understanding the ecological and evolutionary consequences of salinization for freshwater organisms. Here we review current research on the genomic responses to salinity in freshwater zooplankton. Surveying transcriptomic studies, we identify many key ion transport genes critical for osmoregulation of ions in multiple zooplankton species in response to salinity stress. Laboratory investigations of natural zooplankton populations inhabiting gradients of salinity often reveal additional candidate genes that are not identified in gene expression experiments (e.g., trehalose). We suggest that future studies should focus on genomic approaches to explore the molecular mechanisms of adaptation to freshwater salinization in zooplanktons, and to predict the eco-evolutionary consequences of freshwater salinization.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-7"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01DOI: 10.1139/gen-2025-0015
Roger Meisal, Gyda Christophersen
{"title":"The genome of the holothuroid <i>Parastichopus tremulus</i>.","authors":"Roger Meisal, Gyda Christophersen","doi":"10.1139/gen-2025-0015","DOIUrl":"10.1139/gen-2025-0015","url":null,"abstract":"<p><p>The sea cucumber <i>Parastichopus tremulus</i> is an important holothuroid species inhabiting the eastern North Atlantic Ocean benthic zone at depths from about 20 to 3000 m. Geographical distribution is from the Barents Sea in the north to the Canary Islands in the south. Along with the increasing commercial interest of new sea cucumber species, research into sea cucumber biology has also advanced. Recently, the genomes of tropical sea cucumber species have become available. However, genomes of cold-water sea cucumbers are still lacking. To fill this knowledge gap, both the mitochondrial genome and the nuclear genome of <i>P. tremulus</i> have been sequenced and assembled. Mitochondrial genome size and gene-organization closely matched what has been found for other holothuroids of the Stichopodidae family. The total nuclear genome assembly length was found to be 775 Mb at 24× coverage and achieved a final BUSCO completeness score of 87.2%.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-13"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145006040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenomePub Date : 2025-01-01Epub Date: 2024-11-05DOI: 10.1139/gen-2024-0088
Christian Danve M Castroverde, Chi Kuan, Jong Hum Kim
{"title":"Plant immune resilience to a changing climate: molecular insights and biotechnological roadmaps.","authors":"Christian Danve M Castroverde, Chi Kuan, Jong Hum Kim","doi":"10.1139/gen-2024-0088","DOIUrl":"10.1139/gen-2024-0088","url":null,"abstract":"<p><p>Successful resistance to disease-causing pathogens is underpinned by properly regulated immune signalling and defence responses in plants. The plant immune system is controlled at multiple levels of gene and protein regulation-from chromatin-associated epigenetic processes to protein post-translational modifications. Optimal fine-tuning of plant immune signalling and responses is important to prevent plant disease development, which is being exacerbated by a globally changing climate. In this review, we focus on how changing climatic factors mechanistically intercept plant immunity at different levels of regulation (chromatin, transcriptional, post-transcriptional, translational, and post-translational). We specifically highlight recent studies that have provided molecular insights into critically important climate-sensitive nodes and mechanisms of the plant immune system. We then propose several potential future directions to build climate-resilient plant disease resistance using cutting-edge biotechnology. Overall, this conceptual understanding and promising biotechnological advances provide a foundational platform towards novel approaches to engineer plant immune resilience.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-13"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}