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The Iberian Roma Population Variant Server (IRPVS). IRPVS,伊比利亚罗姆人基因数据库。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-26 DOI: 10.1016/j.jgg.2024.03.006
Fabiola Mavillard, Javier Perez-Florido, Francisco M Ortuño, Amador Valladares, Miren L Álvarez-Villegas, Gema Roldán, Rosario Carmona, Manuel Soriano, Santiago Susarte, Pilar Fuentes, Daniel López-López, Ana María Nuñez-Negrillo, Alejandra Carvajal, Yolanda Morgado, Daniel Arteaga, Rosa Ufano, Pablo Mir, Juan F Gamella, Joaquín Dopazo, Carmen Paradas, Macarena Cabrera-Serrano
{"title":"The Iberian Roma Population Variant Server (IRPVS).","authors":"Fabiola Mavillard, Javier Perez-Florido, Francisco M Ortuño, Amador Valladares, Miren L Álvarez-Villegas, Gema Roldán, Rosario Carmona, Manuel Soriano, Santiago Susarte, Pilar Fuentes, Daniel López-López, Ana María Nuñez-Negrillo, Alejandra Carvajal, Yolanda Morgado, Daniel Arteaga, Rosa Ufano, Pablo Mir, Juan F Gamella, Joaquín Dopazo, Carmen Paradas, Macarena Cabrera-Serrano","doi":"10.1016/j.jgg.2024.03.006","DOIUrl":"10.1016/j.jgg.2024.03.006","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recombination and repeat-induced point mutation landscapes reveal trade-offs between the sexual and asexual cycles of Magnaporthe oryzae. 重组和重复诱导的点突变景观揭示了Magnaporthe oryzae有性周期和无性周期之间的权衡。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-13 DOI: 10.1016/j.jgg.2024.03.003
Xifang Zong, Yaxin Lou, Mengshuang Xia, Kunyang Zhao, Jingxuan Chen, Ju Huang, Sihai Yang, Long Wang
{"title":"Recombination and repeat-induced point mutation landscapes reveal trade-offs between the sexual and asexual cycles of Magnaporthe oryzae.","authors":"Xifang Zong, Yaxin Lou, Mengshuang Xia, Kunyang Zhao, Jingxuan Chen, Ju Huang, Sihai Yang, Long Wang","doi":"10.1016/j.jgg.2024.03.003","DOIUrl":"10.1016/j.jgg.2024.03.003","url":null,"abstract":"<p><p>The fungal disease caused by Magnaporthe oryzae is one of the most devastating diseases that endanger many crops worldwide. Evidence shows that sexual reproduction can be advantageous for fungal diseases as hybridization facilitates host-jumping. However, the pervasive clonal lineages of M. oryzae observed in natural fields contradict this expectation. A better understanding of the roles of recombination and the fungi-specific repeat-induced point mutation (RIP) in shaping its evolutionary trajectory is essential to bridge this knowledge gap. Here we systematically investigate the RIP and recombination landscapes in M. oryzae using a whole genome sequencing data from 252 population samples and 92 cross progenies. Our data reveal that the RIP can robustly capture the population history of M. oryzae, and we provide accurate estimations of the recombination and RIP rates across different M. oryzae clades. Significantly, our results highlight a parent-of-origin bias in both recombination and RIP rates, tightly associating with their sexual potential and variations of effector proteins. This bias suggests a critical trade-off between generating novel allelic combinations in the sexual cycle to facilitate host-jumping and stimulating transposon-associated diversification of effectors in the asexual cycle to facilitate host coevolution. These findings provide unique insights into understanding the evolution of blast fungus.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140137436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The CLAVATA signaling: a roadmap to optimize grain shape in rice. CLAVATA 信号:优化稻米粒形的路线图。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 DOI: 10.1016/j.jgg.2024.06.003
Shaoyan Shen, Bingyang Jiao, Yunhai Li
{"title":"The CLAVATA signaling: a roadmap to optimize grain shape in rice.","authors":"Shaoyan Shen, Bingyang Jiao, Yunhai Li","doi":"10.1016/j.jgg.2024.06.003","DOIUrl":"https://doi.org/10.1016/j.jgg.2024.06.003","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice. 致病性 TDRD12 变体会导致 piRNA 通路缺陷以及人类和小鼠的雄性不育症。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 DOI: 10.1016/j.jgg.2024.06.014
Ziyou Bao, Yan Wang, Renxue Wang, Fan Dong, Tongtong Li, Wai-Yee Chan, Zi-Jiang Chen, Gang L, Hongbin Liu, Xiangfeng Chen
{"title":"Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice.","authors":"Ziyou Bao, Yan Wang, Renxue Wang, Fan Dong, Tongtong Li, Wai-Yee Chan, Zi-Jiang Chen, Gang L, Hongbin Liu, Xiangfeng Chen","doi":"10.1016/j.jgg.2024.06.014","DOIUrl":"10.1016/j.jgg.2024.06.014","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Chinese patients with adult onset leukodystrophy caused by CST3 variants. 由 CST3 变体引起的中国成人发病型白营养不良症患者。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-05-08 DOI: 10.1016/j.jgg.2024.05.002
Yi Zhang, Zhi-Ying Wu
{"title":"Chinese patients with adult onset leukodystrophy caused by CST3 variants.","authors":"Yi Zhang, Zhi-Ying Wu","doi":"10.1016/j.jgg.2024.05.002","DOIUrl":"10.1016/j.jgg.2024.05.002","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140904388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Constructing the metabolic network of wheat kernels based on structure-guided chemical modification and multi-omics data. 基于结构引导的化学修饰和多组学数据构建小麦籽粒的代谢网络。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-06 DOI: 10.1016/j.jgg.2024.02.008
Zhitao Tian, Jingqi Jia, Bo Yin, Wei Chen
{"title":"Constructing the metabolic network of wheat kernels based on structure-guided chemical modification and multi-omics data.","authors":"Zhitao Tian, Jingqi Jia, Bo Yin, Wei Chen","doi":"10.1016/j.jgg.2024.02.008","DOIUrl":"10.1016/j.jgg.2024.02.008","url":null,"abstract":"<p><p>Metabolic network construction plays a pivotal role in unraveling the regulatory mechanism of biological activities, although it often proves to be challenging and labor-intensive, particularly with non-model organisms. In this study, we develop a computational approach that employs reaction models based on the structure-guided chemical modification and related compounds to construct a metabolic network in wheat. This construction results in a comprehensive structure-guided network, including 625 identified metabolites and additional 333 putative reactions compared with the Kyoto Encyclopedia of Genes and Genomes database. Using a combination of gene annotation, reaction classification, structure similarity, and correlations from transcriptome and metabolome analysis, a total of 229 potential genes related to these reactions are identified within this network. To validate the network, the functionality of a hydroxycinnamoyltransferase (TraesCS3D01G314900) for the synthesis of polyphenols and a rhamnosyltransferase (TraesCS2D01G078700) for the modification of flavonoids are verified through in vitro enzymatic studies and wheat mutant tests, respectively. Our research thus supports the utility of structure-guided chemical modification as an effective tool in identifying causal candidate genes for constructing metabolic networks and further in metabolomic genetic studies.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140066225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Root-derived long-distance signals trigger ABA synthesis and enhance drought resistance in Arabidopsis. 根源远距离信号触发 ABA 合成并增强拟南芥的抗旱性
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-28 DOI: 10.1016/j.jgg.2024.03.007
Qian-Qian Liu, Jin-Qiu Xia, Jie Wu, Yi Han, Gui-Quan Zhang, Ping-Xia Zhao, Cheng-Bin Xiang
{"title":"Root-derived long-distance signals trigger ABA synthesis and enhance drought resistance in Arabidopsis.","authors":"Qian-Qian Liu, Jin-Qiu Xia, Jie Wu, Yi Han, Gui-Quan Zhang, Ping-Xia Zhao, Cheng-Bin Xiang","doi":"10.1016/j.jgg.2024.03.007","DOIUrl":"10.1016/j.jgg.2024.03.007","url":null,"abstract":"<p><p>Vascular plants have evolved intricate long-distance signaling mechanisms to cope with environmental stress, with reactive oxygen species (ROS) emerging as pivotal systemic signals in plant stress responses. However, the exact role of ROS as root-to-shoot signals in the drought response has not been determined. In this study, we reveal that compared with wild-type plants, ferric reductase defective 3 (frd3) mutants exhibit enhanced drought resistance concomitant with elevated NINE-CIS-EPOXYCAROTENOID DIOXYGENASE 3 (NCED3) transcript levels and abscisic acid (ABA) contents in leaves as well as increased hydrogen peroxide (H<sub>2</sub>O<sub>2</sub>) levels in roots and leaves. Grafting experiments distinctly illustrate that drought resistance can be conferred by the frd3 rootstock regardless of the scion genotype, indicating that long-distance signals originating from frd3 roots promote an increase in ABA levels in leaves. Intriguingly, the drought resistance conferred by the frd3 mutant rootstock is weakened by the CAT2-overexpressing scion, suggesting that H<sub>2</sub>O<sub>2</sub> may be involved in long-distance signaling. Moreover, the results of comparative transcriptome and proteome analyses support the drought resistance phenotype of the frd3 mutant. Taken together, our findings substantiate the notion that frd3 root-derived long-distance signals trigger ABA synthesis in leaves and enhance drought resistance, providing new evidence for root-to-shoot long-distance signaling in the drought response of plants.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140330295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The characterization of protein lactylation in relation to cardiac metabolic reprogramming in neonatal mouse hearts. 蛋白质乳化与新生小鼠心脏代谢重编程的关系表征
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1016/j.jgg.2024.02.009
Tongyu Zhang, Yingxi Zhu, Xiaochen Wang, Danyang Chong, Haiquan Wang, Dandan Bu, Mengfei Zhao, Lei Fang, Chaojun Li
{"title":"The characterization of protein lactylation in relation to cardiac metabolic reprogramming in neonatal mouse hearts.","authors":"Tongyu Zhang, Yingxi Zhu, Xiaochen Wang, Danyang Chong, Haiquan Wang, Dandan Bu, Mengfei Zhao, Lei Fang, Chaojun Li","doi":"10.1016/j.jgg.2024.02.009","DOIUrl":"10.1016/j.jgg.2024.02.009","url":null,"abstract":"<p><p>In mammals, the neonatal heart can regenerate upon injury within a short time after birth, while adults lose this ability. Metabolic reprogramming has been demonstrated to be critical for cardiomyocyte proliferation in the neonatal heart. Here, we reveal that cardiac metabolic reprogramming could be regulated by altering global protein lactylation. By performing 4D label-free proteomics and lysine lactylation (Kla) omics analyses in mouse hearts at postnatal days 1, 5, and 7, 2297 Kla sites from 980 proteins are identified, among which 1262 Kla sites from 409 proteins are quantified. Functional clustering analysis reveals that the proteins with altered Kla sites are mainly involved in metabolic processes. The expression and Kla levels of proteins in glycolysis show a positive correlation while a negative correlation in fatty acid oxidation. Furthermore, we verify the Kla levels of several differentially modified proteins, including ACAT1, ACADL, ACADVL, PFKM, PKM, and NPM1. Overall, our study reports a comprehensive Kla map in the neonatal mouse heart, which will help to understand the regulatory network of metabolic reprogramming and cardiac regeneration.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians. 日晒能力减弱是东亚人皮肤美白进化的一个重要机制。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-07-01 Epub Date: 2024-03-08 DOI: 10.1016/j.jgg.2024.03.001
Youwei Pu, Siyu Pu, Yanyan Chen, Qinghong Kong, Xuyang Liu, Qi Zhao, Ke Xu, Jiuming Liu, Mengyuan Li, Xiaoyu Xu, Xiaoyang Qiao, Bing Su, Jing Chen, Zhaohui Yang
{"title":"Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians.","authors":"Youwei Pu, Siyu Pu, Yanyan Chen, Qinghong Kong, Xuyang Liu, Qi Zhao, Ke Xu, Jiuming Liu, Mengyuan Li, Xiaoyu Xu, Xiaoyang Qiao, Bing Su, Jing Chen, Zhaohui Yang","doi":"10.1016/j.jgg.2024.03.001","DOIUrl":"10.1016/j.jgg.2024.03.001","url":null,"abstract":"<p><p>The evolution of light-skin pigmentation among Eurasians is considered as an adaptation to the high-latitude environments. East Asians are ideal populations for studying skin color evolution because of the complex environment of East Asia. Here, we report a strong selection signal for the pigmentation gene phenylalanine hydroxylase (PAH) in light-skinned Han Chinese individuals. The intron mutation rs10778203 in PAH is enriched in East Asians and is significantly associated with skin color of the back of the hand in Han Chinese males (P < 0.05). In vitro luciferase and transcription factor binding assays show that the ancestral allele of rs10778203 could bind to SMAD2 and has a significant enhancer activity for PAH. However, the derived T allele (the major allele in East Asians) of rs10778203 decreases the binding activity of transcription factors and enhancer activity. Meanwhile, the derived T allele of rs10778203 shows a weaker ultraviolet radiation response in A375 cells and zebrafish embryos. Furthermore, rs10778203 decreases melanin production in transgenic zebrafish embryos after ultraviolet B (UVB) treatment. Collectively, PAH is a potential pigmentation gene that regulates skin tanning ability. Natural selection has enriched the adaptive allele, resulting in weakened tanning ability in East Asians, suggesting a unique genetic mechanism for evolutionary skin lightening in East Asians.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140095118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A haplotype-resolved genome reveals the genetic basis of spine formation in Atelerix albiventris. 单倍型解析基因组揭示了 Atelerix albiventris 脊柱形成的遗传基础。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2024-06-29 DOI: 10.1016/j.jgg.2024.06.012
Libo Jiang, Jianing Xu, Mengyuan Zhu, Zhongfan Lv, Zemin Ning, Fengtang Yang
{"title":"A haplotype-resolved genome reveals the genetic basis of spine formation in Atelerix albiventris.","authors":"Libo Jiang, Jianing Xu, Mengyuan Zhu, Zhongfan Lv, Zemin Ning, Fengtang Yang","doi":"10.1016/j.jgg.2024.06.012","DOIUrl":"10.1016/j.jgg.2024.06.012","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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