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CHFR gene variations: A novel cause for hereditary cancer predisposition? CHFR基因变异：遗传性癌症易感性的新原因？
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Ramakanth Chirravuri-Venkata, Aneek Das Bhowmik, Malini Nemalikanti, Suryanarayan Mishra, Bishwadeep Singha, Valli Undamatla, Chandreswara Raju Kataru, Shrey A, Ramyasri Kola, Divya Tej Sowpati, Prajnya Ranganath, Karthik Bharadwaj Tallapaka
{"title":"<i>CHFR</i> gene variations: A novel cause for hereditary cancer predisposition?","authors":"Ramakanth Chirravuri-Venkata, Aneek Das Bhowmik, Malini Nemalikanti, Suryanarayan Mishra, Bishwadeep Singha, Valli Undamatla, Chandreswara Raju Kataru, Shrey A, Ramyasri Kola, Divya Tej Sowpati, Prajnya Ranganath, Karthik Bharadwaj Tallapaka","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Pathogenic variations in DNA checkpoint kinases, cell cycle regulation, and DNA-damage repair genes are responsible for hereditary cancer predisposition. In a woman with a history of multiple primary cancers (carcinoma rectum and papillary carcinoma of thyroid) at a young age, whole exome sequencing (WES) of the blood revealed a likely pathogenic germline variation NM_001161346.2(CHFR):c.1231C[T (ClinVar variation ID: 1802254) in the <i>CHFR</i> gene. The CHFR gene encodes an E3-ubiquitin ligase and is required for antephase checkpoint maintenance and cell cycle entry into mitosis. It has previously been shown to be silenced in many human tumour types, including colon, lung, and esophageal tumours. Herein, we describe what is possibly the first case of CHFR-related hereditary cancer predisposition syndrome and, using RNA sequencing, elucidated the pathways associated with CHFR inactivation.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148437078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 fun we had doing crosses with Neurospora wild and Dp strains. 我们做野生神经孢子菌和Dp菌株杂交的乐趣。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Durgadas P Kasbekar
{"title":"The fun we had doing crosses with <i>Neurospora</i> wild and <i>Dp</i> strains.","authors":"Durgadas P Kasbekar","doi":"","DOIUrl":"","url":null,"abstract":"<p><p><i>Dps</i> and MSUD: Twenty-five years ago, Robert Metzenberg and colleagues discovered why a cross between a normal euploid <i>Neurospora crassa</i> strain and one carrying any chromosome segment duplication (<i>N X Dp</i>) was barren and produced only a few exceptional progeny ascospores. The culprit was a novel gene-silencing process, which they named meiotic silencing by unpaired DNA (MSUD; <i>Cell</i> 107, 905-916, 2001).</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Complete mitochondrial genomes and phylogenetic analysis of three species of Indo-Pacific freshwater gobies, Stiphodon (Gobiiformes,Oxudercidae). 三种印度太平洋淡水虾虎鱼的全线粒体基因组和系统发育分析。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Cheng-He Sun, Xian-Ru Li, Su-Fan Zhou, Yan-Zi Zhong, Xiao Ma, Xiao-Die Chen
{"title":"Complete mitochondrial genomes and phylogenetic analysis of three species of Indo-Pacific freshwater gobies, <i>Stiphodon</i> (Gobiiformes,Oxudercidae).","authors":"Cheng-He Sun, Xian-Ru Li, Su-Fan Zhou, Yan-Zi Zhong, Xiao Ma, Xiao-Die Chen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Stiphodon is a genus of gobioid fishes found primarily in freshwater streams on islands throughout the Indo-Pacific region. It is the most speciose genus of Sicydiinae, with more than three dozen named species. Complete mitochondrial genome (mtDNA) sequences were determined for three species, namely Stapledon atropurpureus, Stapledon elegans, and Stapledon semoni. Maximum likelihood and Bayes inference inferences from 13 protein-coding genes (11,433 bp) or the COXI gene (1,551 bp) alone were made on these three together with four mitogenomes previously available. S. percnopterygionus and S. tuivi formed an outgroup to the other five Stiphodon species, meanwhile Stapledon atropurpureus and S. semoni were recovered as sister species. The ratios of the non-synonymous to the synonymous ubstitution rates for all PCGs were in the range 0 (Ka/Ks) 1, which suggests they have been subject to purifying selection.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148880836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Retraction Note: An insight into the sequential, structural and phylogenetic properties of banana 1-aminocyclopropane-1-carboxylate synthase 1 and study of its interaction with pyridoxal-5'-phosphate and aminoethoxyvinylglycine. 对香蕉1-氨基环丙烷-1-羧酸合成酶1的序列、结构和系统发育特性进行了深入研究，并研究了其与吡哆醛-5'-磷酸和氨基乙氧基乙烯基甘氨酸的相互作用。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01 DOI: 10.1007/s12038-026-00602-1
Swarup Roy Choudhury, Sanjay Kumar Singh, Sujit Roy, Dibyendu N Sengupta
{"title":"Retraction Note: An insight into the sequential, structural and phylogenetic properties of banana 1-aminocyclopropane-1-carboxylate synthase 1 and study of its interaction with pyridoxal-5'-phosphate and aminoethoxyvinylglycine.","authors":"Swarup Roy Choudhury, Sanjay Kumar Singh, Sujit Roy, Dibyendu N Sengupta","doi":"10.1007/s12038-026-00602-1","DOIUrl":"https://doi.org/10.1007/s12038-026-00602-1","url":null,"abstract":"<p><p>This article has been retracted by the Editor-in-Chief following concerns raised after publication. Specifically, duplication of two lanes within the same blot was identified in Figure 1b, where different samples were represented using the same data. The authors were unable to provide a satisfactory explanation or a suitable replacement figure. As a result, the editor has lost confidence in the data and conclusions presented in the study. One author (Swarup Roy Choudhury) disagreed with the retraction. The remaining authors did not respond to correspondence from the publisher regarding this issue.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"51 22","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148684711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Combined transcriptome and metabolome analyses reveal that galactose metabolism is vital for tobacco in response to low-nitrate stress. 转录组学和代谢组学分析表明，半乳糖代谢对烟草低硝酸盐胁迫的响应至关重要。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Dong Wang, Yongchang Wen, Haoran Xie, Mingxin Mu, Xianchao Tirumurugan, A Peng, Junju Li, Jixian He, Xiaoli Liu, Yifei Lu, Bi Ren, Liming Lu, Liqin Li
{"title":"Combined transcriptome and metabolome analyses reveal that galactose metabolism is vital for tobacco in response to low-nitrate stress.","authors":"Dong Wang, Yongchang Wen, Haoran Xie, Mingxin Mu, Xianchao Tirumurugan, A Peng, Junju Li, Jixian He, Xiaoli Liu, Yifei Lu, Bi Ren, Liming Lu, Liqin Li","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Nitrogen is a primary factor affecting the yield and quality of tobacco. Insufficient nitrogen results in poor tobacco output and poor leaf quality; in contrast, excessive nitrate can lead to delayed maturity and poor quality of cured tobacco leaves. To elucidate the molecular mechanism underlying the response of tobacco to low nitrogen, we conducted a multiomics analysis of tobacco plants treated with normal (7.5 mM) or low nitrogen (0.75 mM). Our results revealed that after 15 days of low-nitrate treatment, the plants exhibited stunted growth, yellowed leaves, and significant growth inhibition. The total nitrogen levels, and the activities of glutamine synthetase and nitrate reductase in the leaves also decreased significantly. Transcriptome analysis of the tobacco plants under low-nitrogen stress revealed 896 differentially expressed genes, with 404 genes upregulated and 492 genes downregulated in comparison with those in the control. Among the upregulated genes, the expression of <i>Nitab4.5_0000970g0150</i>, which is involved in galactose metabolism, significantly increased. Subsequent metabolome analysis revealed that 28 metabolites significantly changed under low-nitrogen treatment, including 23 metabolites whose levels increased and 6 whose levels decreased compared with those in the control. The increased metabolites were also enriched in galactose metabolism. Integrated transcriptome and metabolome analyses revealed that three pathways significantly changed- amino acid synthesis and metabolism, galactose metabolism and trehalose-6-phosphate metabolism-among which galactose metabolism is important for tobacco in response to low nitrogen stress. These findings provide a theoretical basis for further research on the function of nitrogen regulatory genes in tobacco and for the breeding of tobacco varieties with high nitrogen use efficiency.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Integrated bioinformatics and SEM analysis reveal GPAM as a key mediator of fibrosis in NAFLD with metabolic dysfunction. 综合生物信息学和扫描电镜分析显示，GPAM是NAFLD伴代谢功能障碍的纤维化的关键介质。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Bai Peng, Mengying Xu, Li Ma, Xiang Gao
{"title":"Integrated bioinformatics and SEM analysis reveal GPAM as a key mediator of fibrosis in NAFLD with metabolic dysfunction.","authors":"Bai Peng, Mengying Xu, Li Ma, Xiang Gao","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Nonalcoholic fatty liver disease (NAFLD) is a complex condition influenced by metabolic and genetic factors, yet the shared genetic architecture underlying its progression remains poorly understood. The aim of this study was to employ genomic structural equation modeling (GSEM) to elucidate the genetic architecture linking NAFLD with key metabolic traits-including insulin resistance, body mass index (BMI), hemoglobin A1c (HbA1c), and liver fibrosis using summary statistics from large-scale genome-wide association studies. By harmonizing 2.18 million variants across five genome-wide association studies (GWAS) datasets, we identified 134 genome-wide significant loci that mapped to 24 genes. GSEM revealed a latent genetic structure composed of two distinct dimensions: a metabolic regulation factor primarily driven by insulin resistance, BMI, and HbA1c; and a structural pathology factor specifically associated with liver fibrosis. These factors explained 65.5% and 78.1% of the genetic variance in BMI and fibrosis, respectively, with minimal correlation (rg = 0:07), indicating their genetic distinctness. Additionally, integrating Mendelian randomization with liver transcriptome profiling, we characterized how the 24 genes contribute to disease and identified mitochondrial glycerol-3-phosphate acyltransferase (GPAM) as the key gene that causally links lipid metabolism to fibrogenesis. In conclusion, we present the first genetically grounded mechanism for the progression of NAFLD to fibrosis. This mechanism encompasssses genetic variants, dysregulated gene expression, metabolic disturbances, and the processes involved in fibrotic remodeling. This research establishes a genetic framework for understanding the pathogenesis of NAFLD and highlights novel therapeutic targets for intervention.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148887740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Lyonization of X-chromosome: New insights. x染色体的电离：新的见解。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
H A Ranganath
{"title":"Lyonization of X-chromosome: New insights.","authors":"H A Ranganath","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Ever since Mary Lyon (Nature 190:372-373, 1961) proposed the phenomena of X-chromosome inactivation (XCI) in female mammals, our quest to understand the mechanism underlying it is in progress. Our current knowledge of X-chromosome inactivation (XCI) is due to the application of state-of-the-art genomic and transcriptomic technologies, advanced microscopy, and cutting-edge in vitro differentiation models. The role of long-noncoding RNA Xist along with proteins (ribonucleoproteins) in the epigenetic silencing has led to the better understanding of XCI. Now attempts are on the way to reverse X-chromosome repression at specific gene loci in the female genome and to cure X-linked disease. This review presents narrative includes a comprehensive overview of these developments.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148421550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
COI mtDNA barcodes of freshwater leeches (Hirudinea) from Azerbaijan reveal lineage structure within taxa. 阿塞拜疆淡水水蛭（Hirudinea）的COI mtDNA条形码揭示了分类群内的谱系结构。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Shabnam Farzali, Naim Saglam
{"title":"COI mtDNA barcodes of freshwater leeches (Hirudinea) from Azerbaijan reveal lineage structure within taxa.","authors":"Shabnam Farzali, Naim Saglam","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We present a COI-based assessment of freshwater leeches in Azerbaijan's Lankaran-Astara region. Between 2019 and 2021, we sampled 136 individuals from 33 wetlands across six districts and generated 15 new COI sequences, which were combined with curated GenBank records. Four species were confirmed in three families: <i>Dina lineata</i> (Erpobdellidae), <i>Helobdella stagnalis</i> (Glossiphoniidae), <i>Hirudo orientalis</i> (Hirudinidae), and <i>Trocheta</i> sp. (Erpobdellidae). Azerbaijani <i>D. lineata</i> populations occur as two distinct clades, one that includes an individual from Iraq (Lineage A) and one that includes an individual from Iran (Lineage B). These Asian lineages are separated from European <i>D. lineata</i>. An Azerbaijani <i>Trocheta</i> sp. specimen (FSM20) clusters with one from Iran on a distinct branch that is > 8% divergent from its closest congeners. We suggest this is likely a new species. Our results validate COI barcoding for resolving species boundaries in Caucasian leeches, and highlight the South Caucasus as a promising region for <i>Trocheta</i> diversity and discovery.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148536165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Characterization of an MHC class II b gene reveals high heterogeneity and polymorphism among populations of non-native bullfrogs with complex invasion histories. 一种MHCⅱb类基因的特征揭示了具有复杂入侵历史的非本地牛蛙种群的高度异质性和多态性。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
Luisa N Segovia, Karen M Kiemnec-Tyburczy
{"title":"Characterization of an MHC class II b gene reveals high heterogeneity and polymorphism among populations of non-native bullfrogs with complex invasion histories.","authors":"Luisa N Segovia, Karen M Kiemnec-Tyburczy","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We characterized the genetic diversity of exon 2 of one major histocompatibility complex (MHC) Class II b chain gene in five non-native populations of the American bullfrog (Aquarana (Rana) catesbeiana)-a highly invasive amphibian. We discovered higher levels of genetic diversity and more signatures of positive selection in the MHC exon relative to a putatively neutral protein coding gene (Cytochrome b). Populations (even those in close geographic proximity) harboured highly varying levels of diversity at both loci, including alleles that have been previously shown to be associated with disease resistance in this species.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148404923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Mitochondrial COI evidence of recent expansion and panmixia in Bangladesh Penaeus monodon, with distinct phylogeographic lineages in the Indo-Pacific. 线粒体COI证据表明孟加拉国单斑对虾最近的扩张和panmixia，在印度-太平洋地区具有独特的系统地理谱系。
IF 1 4区 生物学
Journal of Genetics Pub Date : 2026-01-01
M M Mahbub Alam, Kristen Westfall, Snaebjorn Palsson
{"title":"Mitochondrial COI evidence of recent expansion and panmixia in Bangladesh <i>Penaeus monodon</i>, with distinct phylogeographic lineages in the Indo-Pacific.","authors":"M M Mahbub Alam, Kristen Westfall, Snaebjorn Palsson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The Black Tiger Shrimp (<i>Penaeus monodon</i>) is one of the world's most valuable aquaculture resources, and its genetic diversity has been measured through the Indo-Pacific region. We examined variation in a 584 bp region of mtDNA Cytochrome Oxidase Subunit I (COI) sequence from three sample sites in the Bay of Bengal (total N = 46), to assess its genetic diversity, demographic history, and phylogeographic structure. There is high haplotype diversity in consequence of multiple singleton sequences (<i>h</i> = 0.73), but very low nucleotide diversity (<i>π</i> = 0.0030). Population structure across the three sites is negligible (AMOVA <i>Φ</i><sub>ST</sub> = 0.0, <i>P</i> > 0.05). Demographic analyses, based on mismatch Tau from ARLIQUIN, suggests a population expansion ~235 Kya (95% CI: 34 - 452 Kya). Negative Tajima's D and Fu's F<sub>S</sub> values suggest post-bottleneck population growth or a selective sweep. Bayesian skyline analysis estimates the effective population size as N<sub>e</sub> > 6 × 10<sup>6</sup> individuals. The data indicate that <i>P. monodon</i> in the Bay of Bengal is a haplotypically diverse but genetically shallow panmictic population, possibly in consequence of recent expansion. The contrast with other Indo-Pacific populations is discussed. The phylogenetic analysis suggests that mitochondrial DNA (mtDNA) lineages in the Indian Ocean and Pacific lineages may be separate species, separated more than 4 Mya.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"105 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148669419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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