Genomics最新文献_第2页

Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts 外显子组分析揭示孟德尔显性非综合征性口面部裂的遗传结构。

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-25 DOI: 10.1016/j.ygeno.2025.111039

Yining Zuo , Ji-Wei Chang , Nian-Nian Zhong, Zhuo Huang, Haitang Yue, Haiyan Cao, Zhaoyi Wu, Miao He, Zhuan Bian

{"title":"Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts","authors":"Yining Zuo , Ji-Wei Chang , Nian-Nian Zhong, Zhuo Huang, Haitang Yue, Haiyan Cao, Zhaoyi Wu, Miao He, Zhuan Bian","doi":"10.1016/j.ygeno.2025.111039","DOIUrl":"10.1016/j.ygeno.2025.111039","url":null,"abstract":"<div><div>Nonsyndromic orofacial clefts (NSOFC) represents a prevalent congenital anomalies, the etiology of which likely involves a complex interplay between genetic and environmental factors. To elucidate potential pathogenic variants, exome sequencing (ES) was conducted on 123 Chinese pedigrees demonstrating Mendelian dominant inheritance of NSOFC, including 251 patients and 130 unaffected relatives. This was followed by a standardized process of variant screening and filtering to identify novel variants within established candidate genes associated with clefting phenotypes. The study unveiled rare pathogenic variants in recognized genes with clefting across 101 pedigrees. These genes are implicated in essential biological processes such as primary ciliary function, bone formation and development, cell adhesion, and transcription regulation. Notably, the investigation into random X chromosome inactivation assay posited <em>FLNA</em> and <em>GPC3</em> as factors contributing to NSOFC's incomplete dominance<em>.</em> Moreover, <em>in vitro</em> functional experiments targeting variants in two ciliary genes, <em>TBC1D32</em> and <em>SCLT1,</em> elucidated their roles in NSOFC pathogenesis.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111039"},"PeriodicalIF":3.4,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729398","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}

引用次数: 0

Maternal genetic architecture of Guizhou's Hmong-Mien populations via whole mitogenome 利用全有丝分裂基因组分析贵州苗族群体的母系遗传结构

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-24 DOI: 10.1016/j.ygeno.2025.111041

Li Chen , Yuhang Feng , Shuaiji Pan , Lin Wang , Hongling Zhang , Xiaoye Jin , Qiyan Wang , Yubo Liu , Meiqing Yang , Xiaolan Huang , Shunyi Tian , Changyun Gu , Jiang Huang , Zheng Ren

{"title":"Maternal genetic architecture of Guizhou's Hmong-Mien populations via whole mitogenome","authors":"Li Chen , Yuhang Feng , Shuaiji Pan , Lin Wang , Hongling Zhang , Xiaoye Jin , Qiyan Wang , Yubo Liu , Meiqing Yang , Xiaolan Huang , Shunyi Tian , Changyun Gu , Jiang Huang , Zheng Ren","doi":"10.1016/j.ygeno.2025.111041","DOIUrl":"10.1016/j.ygeno.2025.111041","url":null,"abstract":"<div><div>The Hmong-Mien (HM) language family, majorly distributed across southern China and Southeast Asia, has remained underexplored in population genetics, particularly concerning whole mitogenome studies. In this study, we sequenced the whole mitogenomes of 261 individuals from Guizhou Hmong-Mien-speaking populations (HM-G), comprising Miao, Yao, and She individuals. The haplogroup distribution was dominated by southern East Asian haplogroups (B, M7, and F). The neutrality test revealed significantly negative values, and mismatch distribution analyses showed a pronounced unimodal distribution, indicating high genetic diversity and recent population expansion in populations. For a comprehensive understanding of the matrilineal genetic background of the HM-speaking population, we merged whole mitogenome data from 83 populations worldwide. Our findings showed that the HM-G exhibited relatively close genetic distances to HM- and Tai-Kadai-speaking populations from East and Southeast Asia. These results provide crucial insights into the genetic structure and evolutionary history of HM-G.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111041"},"PeriodicalIF":3.4,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143724424","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}

引用次数: 0

Heterogeneity of fibroblasts from different anatomical sites in healthy human knee ligaments revealed by single-cell RNA sequencing 单细胞RNA测序揭示了健康人膝关节韧带不同解剖部位成纤维细胞的异质性

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-24 DOI: 10.1016/j.ygeno.2025.111040

Haibo Zhao , Yizhi Yao , Fan Jiang , Xuesai Zhu , Tengbo Yu , Xiao Xiao

{"title":"Heterogeneity of fibroblasts from different anatomical sites in healthy human knee ligaments revealed by single-cell RNA sequencing","authors":"Haibo Zhao , Yizhi Yao , Fan Jiang , Xuesai Zhu , Tengbo Yu , Xiao Xiao","doi":"10.1016/j.ygeno.2025.111040","DOIUrl":"10.1016/j.ygeno.2025.111040","url":null,"abstract":"<div><div>Knee ligaments are important structures that determine the locomotor function of the knee. In this paper, we identified and analyzed the cell types and compositions of ligaments from different parts of the healthy knee joint. By single-cell sequencing of approximately 106,077 extracted cells, we established a comprehensive cellular profile of ligaments in other parts of the knee joints of 15 healthy subjects and explored the more critical heterogeneity of fibroblasts. Three subpopulations of fibroblasts that may be associated with knee ligament anatomy were identified and their differentiation relationships were revealed, and the FTH1/FTL_SCARA5 signaling pathway that may be associated with knee ligament anatomical function was identified. This ligament atlas provides a molecular cytological basis for studying the physiological functions and properties of knee ligaments as well as the relationship between ligament structure and function at different sites. It offers certain clues for future studies of rated knee ligament diseases.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111040"},"PeriodicalIF":3.4,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704497","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}

引用次数: 0

Feadm5C: Enhancing prediction of RNA 5-Methylcytosine modification sites with physicochemical molecular graph features Feadm5C：利用理化分子图特征增强对RNA 5-甲基胞嘧啶修饰位点的预测。

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-22 DOI: 10.1016/j.ygeno.2025.111037

Dongdong Jiang , Chunyan Ao , Yan Li , Liang Yu

引用次数: 0

Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors 基于65个变异效应预测指标的变异临床解释的见解

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-22 DOI: 10.1016/j.ygeno.2025.111036

Ragousandirane Radjasandirane, Julien Diharce, Jean-Christophe Gelly , Alexandre G. de Brevern

{"title":"Insights for variant clinical interpretation based on a benchmark of 65 variant effect predictors","authors":"Ragousandirane Radjasandirane, Julien Diharce, Jean-Christophe Gelly , Alexandre G. de Brevern","doi":"10.1016/j.ygeno.2025.111036","DOIUrl":"10.1016/j.ygeno.2025.111036","url":null,"abstract":"<div><div>Single amino acid substitutions in protein sequences are generally harmless, but a certain number of these changes can lead to disease. Accurately predicting the effect of genetic variants is crucial for clinicians as it accelerates the diagnosis of patients with missense variants associated with health problems. Many computational tools have been developed to predict the pathogenicity of genetic variants with various approaches. Analysing the performance of these different computational tools is crucial to provide guidance to both future users and especially clinicians. In this study, a large-scale investigation of 65 tools was conducted. Variants from both clinical and functional contexts were used, incorporating data from the ClinVar database and bibliographic sources. The analysis showed that AlphaMissense often performed very well and was in fact one of the best options among the existing tools. In addition, as expected, meta-predictors perform well on average. Tools using evolutionary information showed the best performance for functional variants. These results also highlighted some heterogeneity in the difficulty of predicting some specific variants while others are always well categorized. Strikingly, the majority of variants from the ClinVar database appear to be easy to predict, while variants from other sources of data are more challenging. This raises questions about the use of ClinVar and the dataset used to validate tools accuracy. In addition, these results show that this variant predictability can be divided into three distinct classes: easy, moderate and hard to predict. We analyzed the parameters leading to these differences and showed that the classes are related to structural and functional information.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111036"},"PeriodicalIF":3.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143687959","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}

引用次数: 0

Transcriptome analysis reveals that the injection of mesenchymal stem cells remodels extracellular matrix and complement components of the brain through PI3K/AKT/FOXO1 signaling pathway in a neuroinflammation mouse model 转录组分析显示，在神经炎症小鼠模型中，注射间充质干细胞通过PI3K/AKT/FOXO1信号通路重塑细胞外基质和补体成分

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-21 DOI: 10.1016/j.ygeno.2025.111033

Zhihao Xu , Keqin Liu , Guoqing Zhang , Fen Yang , Ya'’nan He , Wenbin Nan , Yonghai Li , Juntang Lin

{"title":"Transcriptome analysis reveals that the injection of mesenchymal stem cells remodels extracellular matrix and complement components of the brain through PI3K/AKT/FOXO1 signaling pathway in a neuroinflammation mouse model","authors":"Zhihao Xu , Keqin Liu , Guoqing Zhang , Fen Yang , Ya'’nan He , Wenbin Nan , Yonghai Li , Juntang Lin","doi":"10.1016/j.ygeno.2025.111033","DOIUrl":"10.1016/j.ygeno.2025.111033","url":null,"abstract":"<div><div>Neurological disorders are often accompanied by neuroinflammatory responses. Our previous research indicated that mesenchymal stem cells (MSCs) suppressed neuroinflammation in the brain. The mechanism of action remains not fully understood. In this study, we analyzed the impact of injected MSCs on the transcriptome in the brains of neuroinflammatory mouse model (NIM) with bioinformatical methods and conducted experimental validation with qPCR and Western blot. The results showed that the expression of extracellular matrix components changed, and the complement cascade was activated in the NIM brains. Injection of MSCs reversed the expression of ECM components and inhibited complement activation. MSCs may promote the improvement of neuronal synaptic function and alter the infiltration of immune cells into the brain. MSCs regulated the PI3K/AKT/Foxo1 signaling pathway. These findings will be very helpful for the development of MSCs-based therapy and the treatment of neuroinflammation-related diseases.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111033"},"PeriodicalIF":3.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686522","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}

引用次数: 0

Transcriptome and metabolome reveal the mechanism of neuroendocrine regulation in ovarian development of broiler breeders 转录组和代谢组揭示了肉种鸡卵巢发育中神经内分泌调控的机制

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-20 DOI: 10.1016/j.ygeno.2025.111035

Xiaoli Zhou , Yuhang Xu , Cheng Fang , Chutian Ye , Weiming Liang , Zhexia Fan , Xuerong Ma , Aijun Liu , Xiquan Zhang , Qingbin Luo

{"title":"Transcriptome and metabolome reveal the mechanism of neuroendocrine regulation in ovarian development of broiler breeders","authors":"Xiaoli Zhou , Yuhang Xu , Cheng Fang , Chutian Ye , Weiming Liang , Zhexia Fan , Xuerong Ma , Aijun Liu , Xiquan Zhang , Qingbin Luo","doi":"10.1016/j.ygeno.2025.111035","DOIUrl":"10.1016/j.ygeno.2025.111035","url":null,"abstract":"<div><div>The long-term selection for meat has led to the poor egg production efficiency in broiler. In this study, we analyzed the transcriptional levels of hypothalamus and ovary during the pre-laying (PP) and laying periods (LP) of broiler breeders. By combining these with the levels of reproductive hormones and ovarian metabolism, to reveal the neuroendocrine control mechanism of ovarian development. Results showed that during LP, the number of LYFs, SYFs and WFs, the thickness of the granular cell layer, and the serum LH, FSH, P4 and E2 levels were significantly increased (<em>P</em> < 0.05). A total of 1188 and 2481 differentially expressed genes (DEGs) were detected in hypothalamus and ovary, respectively. 1972 significantly differentially metabolites (DMs) were detected in ovary. In hypothalamus, the expression of neuroendocrine regulatory genes such as <em>TRH</em>, <em>AVT</em>, <em>VIP</em>, and <em>NYB</em> in the Neuroactive ligand-receptor interaction pathway regulated the LH and FSH secretion via the HPG axis. In ovary, the promotion of GCs proliferation may occur through the glycerophospholipid metabolism pathway, which increased the thickness of the GCs layer. This helped to receive gonadotropin signals and increased P4 and E2 secretion. Meanwhile, the decreased expression levels of ovarian development inhibitory factors in the TGF-beta signaling pathway, including <em>BMP2</em>, <em>BMP4</em>, <em>BMP15</em> and <em>AMHR2</em>, and the increased expression levels of MMPs, including <em>MMP9</em>, <em>MMP11</em> and <em>MMP13</em>, may regulate the synthesis of metabolites associated with steroid hormone secretion and ovarian development, such as E2, E2-3S, 7α-OH-DHEA, CHO and AD. These genes and metabolites may play an important role in HPG axis in regulating ovarian development.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111035"},"PeriodicalIF":3.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686521","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}

引用次数: 0

Integrated analysis of lipid metabolism and differentially expressed genes reveal seed oil accumulation in field muskmelon 脂质代谢和差异表达基因的综合分析揭示了甜瓜籽粒油脂积累。

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-19 DOI: 10.1016/j.ygeno.2025.111031

Jiyuan Wang , Hengyi Ren , Jie Zhu , Yahui Li , Jie Liu , Hu Li , Chun Liu , Yupeng Fan , Huijun Zhang

{"title":"Integrated analysis of lipid metabolism and differentially expressed genes reveal seed oil accumulation in field muskmelon","authors":"Jiyuan Wang , Hengyi Ren , Jie Zhu , Yahui Li , Jie Liu , Hu Li , Chun Liu , Yupeng Fan , Huijun Zhang","doi":"10.1016/j.ygeno.2025.111031","DOIUrl":"10.1016/j.ygeno.2025.111031","url":null,"abstract":"<div><div>Field muskmelon (<em>Cucumis melo</em> L. var. <em>agrestis</em> Naud.), a novel oil crop, contains a high amount of lipids in seeds. However, the high-resolution profiles and dynamic regulation of its lipids remain largely unknown. This study identified the lipids and analyzed their dynamic changes using UHPLC-MS/MS. We identified 2533 lipid molecules in the seeds, including 7 categories and 47 sub-classes, with the higher proportions of glycerolipids (41.02 %) and glycerophospholipids (28.11 %). Moreover, the content of glycerolipids was the highest, particularly for triacylglycerol lipid molecules. Additionally, the expression patterns of differentially expressed genes (DEGs) showed a close correlation with lipid accumulation, especially within the plant hormone signaling pathway. Notably, the sufficient supply of 18:1-CoA, coupled with a high expression level of <em>CmFAD2</em>, contributed significantly to the high linoleic acid (68.56 %) content in field muskmelon seeds. Our findings offer insights that could enhance the comprehensive understanding of lipids in field muskmelon, and facilitate the breeding of field muskmelon.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111031"},"PeriodicalIF":3.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673816","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}

引用次数: 0

Deep sequencing of Korean Jindo dog reveals evolutionary trajectory of coat color variations 韩国珍岛犬的深度测序揭示了毛色变化的进化轨迹。

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-16 DOI: 10.1016/j.ygeno.2025.111032

Dayeon Kang , Woncheoul Park , Miju Kim , Young-Jo Lim , Jong-Seok Kim , Seok-Il Oh , Jocelyn Plassais , Jaemin Kim , Bong-Hwan Choi

{"title":"Deep sequencing of Korean Jindo dog reveals evolutionary trajectory of coat color variations","authors":"Dayeon Kang , Woncheoul Park , Miju Kim , Young-Jo Lim , Jong-Seok Kim , Seok-Il Oh , Jocelyn Plassais , Jaemin Kim , Bong-Hwan Choi","doi":"10.1016/j.ygeno.2025.111032","DOIUrl":"10.1016/j.ygeno.2025.111032","url":null,"abstract":"<div><div>The inherent diversity of canines is closely intertwined with the unique color patterns of each dog population. These variations in color patterns are believed to have originated through mutations and selective breeding practices that occurred during and after the domestication of dogs from wolves. To address the significant gaps that persist in comprehending the evolutionary processes that underlie the development of these patterns, we generated and analyzed deep-sequenced genomes of 113 Korean Indigenous Jindo dogs that represent five distinct color patterns to identify the associated mutations in <em>CBD103</em>, <em>ASIP</em>, and <em>MC1R</em>. The degree of linkage disequilibrium and estimated allelic ages consistently indicate that the black-and-tan dogs descend from the first major founding population on Jindo island, compatible with the documented literature. We additionally demonstrate that black-and-tan dogs, in contrast to other color variations within the breed, exhibit a closer genetic affinity to ancient wolves from western Eurasia than those from eastern Eurasia. Lastly, the alleles unique to black-and-tan dogs indicated a pleiotropic effect by significantly decreasing the body size phenotypes compared to non-carriers. Overall, comparisons of whole genome sequences of each coat color population diverged from the same breed provided an unprecedented glimpse into the properties of evolutionary processes maintaining variation in Korean Jindo dog populations.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111032"},"PeriodicalIF":3.4,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656743","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}

引用次数: 0

METTL14 facilitates the process of sexual reversal via m6A RNA methylation in Pelodiscus sinensis METTL14通过m6A RNA甲基化促进中华黄参性逆转过程。

IF 3.4 2区生物学

Genomics Pub Date : 2025-03-12 DOI: 10.1016/j.ygeno.2025.111030

Tong Zhou , Guobin Chen , Jizeng Cao , Huizi Ji , Guiwei Zou , Hongwei Liang

{"title":"METTL14 facilitates the process of sexual reversal via m6A RNA methylation in Pelodiscus sinensis","authors":"Tong Zhou , Guobin Chen , Jizeng Cao , Huizi Ji , Guiwei Zou , Hongwei Liang","doi":"10.1016/j.ygeno.2025.111030","DOIUrl":"10.1016/j.ygeno.2025.111030","url":null,"abstract":"<div><div>The Chinese soft-shelled turtle (<em>Pelodiscus sinensis, P. sinensis</em>) demonstrates noteworthy sexual dimorphism, where the males grow more rapidly and significantly larger than females under equivalent conditions. Estradiol (E2) administration can catalyze transformation from male to pseudo-female (PF), during which m6A RNA methylation undergoes considerable alterations. Nevertheless, the function of m6A methylation, specifically, the methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit gene (<em>METTL14</em>) during this sex reversal process remains unclear. Within this study, we characterized the <em>METTL14</em> gene, which was predominantly expressed within the ovary and demonstrated notable expression in PF individuals. Interference of <em>METTL14</em> results in altered expression of methylation-related genes, yielding elevated <em>RSPO1</em> expression and diminished <em>AMH</em> expression. Administration of E2 and <em>METTL14</em>-RNAi elicits 7994 differentially expressed genes (DEGs) during sexual differentiation, and KEGG enrichment analysis highlighted that <em>METTL14</em> profoundly affects embryonic development through pathways including steroid hormone biosynthesis, ovarian steroidogenesis, tryptophan metabolism, and Glycolysis/Gluconeogenesis. Gene set enrichment analysis (GSEA) indicated that METTL14-RNAi triggers reduced expression of steroid hormone biosynthesis and ovarian steroidogenesis pathways while increasing the PPAR signaling pathway. In conclusion, METTL14-RNAi results in significant up-regulation of <em>RSPO1</em> and down-regulation of <em>AMH</em>, inducing substantial alterations in pathways associated with hormone and metabolism. These findings propose that <em>METTL14</em> may play a facilitating role during E2-induced sex reversal in <em>P. sinensis</em>, offering a novel avenue for further exploration into all-male breeding.</div></div>","PeriodicalId":12521,"journal":{"name":"Genomics","volume":"117 3","pages":"Article 111030"},"PeriodicalIF":3.4,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624202","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}

引用次数: 0