Frontiers in Genetics最新文献

{"title":"<i>bk-5</i> ^{<i>214S2L</i>} <i>,</i> an allelic variant of <i>bk-5,</i> as high-quality silage maize genetic resource.","authors":"Gang Li, Jiyuan Du, Xiaohu Li, Shilin Zhuge, Shuolin Ren, Min Wu, Haoran Ma, Xinrui Guo, Ziqiang Chen, Haiping Ding","doi":"10.3389/fgene.2025.1483839","DOIUrl":"https://doi.org/10.3389/fgene.2025.1483839","url":null,"abstract":"<p><strong>Introduction: </strong>Stem brittleness significantly affects both yield and quality of maize.</p><p><strong>Methods: </strong>Using phenotypic identification and sequence analysis, we identified a new brittle stalk maize mutant. Furthermore, we assessed its feeding value by content determination of cellulose, hemicellulose, lignin crude fiber, starch, and protein contents.</p><p><strong>Results: </strong>Here, we identified a brittle stalk maize mutant, <i>bk-5</i> ^{<i>214S2L</i>} , an allelic variant of <i>bk-5</i>. The stem brittleness of <i>bk-5</i> ^{<i>214S2L</i>} was similar to that of <i>bk-5</i>, but not identical. Unlike <i>bk-5</i>, <i>bk-5</i> ^{<i>214S2L</i>} leaves did not fall off completely and its stems did not break in windy conditions. We identified a missense mutation (C>T) in the fifth exon of the candidate gene <i>Zm00001d043477</i>, resulting in an amino acid change from serine to leucine at position 214. A significant reduction in cell wall thickness in the leaf veins and stems of <i>bk-5</i> ^{<i>214S2L</i>} compared with the inbred line RP125. Among the major cell wall components in stems and leaves, total cellulose, hemicellulose, and lignin were lower in <i>bk-5</i> ^{<i>214S2L</i>} than in RP125. We also evaluated the application value of <i>bk-5</i> ^{<i>214S2L</i>} silage and found that the detergent fiber contents of <i>bk-5</i> ^{<i>214S2L</i>} stems were significantly reduced compared with RP125, while the crude fiber, starch, and protein contents remained unchanged. The reduced tannin content improved the palatability of the silage for livestock.</p><p><strong>Conclusion: </strong>Overall, <i>bk-5</i> ^{<i>214S2L</i>} , an allelic variant of <i>bk-5</i>, is a high-quality genetic resource for breeding forage and grain-feed maize.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1483839"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: Whole exome sequencing identifies a novel variant in the <i>HPRT1</i> gene in a male with developmental delay.","authors":"Haoyang Zheng, Gui Chen, Tingting Wang, Weisheng Cheng, Jing Yuan, Fang Liu, Yuanhong Xu","doi":"10.3389/fgene.2025.1512070","DOIUrl":"https://doi.org/10.3389/fgene.2025.1512070","url":null,"abstract":"<p><p>Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the <i>HPRT1</i> gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT). <i>HPRT1</i> gene variants disrupt normal purine metabolism, leading to the involvement of multiple organ systems, primarily characterized by hyperuricemia, dystonia, and neurological abnormalities, which makes LNS clinically heterogeneous and diagnostically challenging. Here, we report a rare case of a 27-year-old Chinese male exhibiting severe lower limb motor disorders, hyperuricemia, and intellectual development delay. Blood tests showed hyperuricemia and whole exome sequencing (WES) identified a novel hemizygous variant in the <i>HPRT1</i> (NM-000194.3) gene: c.104T > C in exon 2, respectively. Bioinformatics techniques indicated that the variant may disrupt the activity of HGPRT. According to the clinical presentation, diagnostic examination, and WES results, the patient was finally diagnosed with LNS. This study identified a previously unreported pathogenic variant in the <i>HPRT1</i> gene. Although no curative therapy is currently available for <i>HPRT1</i> gene variants at present, a definite diagnosis of its genetic etiology is of great significance for genetic counseling and family planning.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1512070"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Annotation of cis-regulatory-associated histone modifications in the genomes of two Thoroughbred stallions.","authors":"Alexa M Barber, Nicole B Kingsley, Sichong Peng, Elena Giulotto, Rebecca R Bellone, Carrie J Finno, Ted Kalbfleisch, Jessica L Petersen","doi":"10.3389/fgene.2025.1534461","DOIUrl":"10.3389/fgene.2025.1534461","url":null,"abstract":"<p><p>The Functional Annotation of Animal Genomes (FAANG) consortium aims to annotate animal genomes across species, and work in the horse has substantially contributed to that goal. As part of this initiative, chromatin immunoprecipitation with sequencing (ChIP-seq) was performed to identify histone modifications corresponding to enhancers (H3K4me1), promoters (H3K4me3), activators (H3K27ac), and repressors (H3K27me3) in eight tissues from two Thoroughbred stallions: adipose, parietal cortex, heart, lamina, liver, lung, skeletal muscle, and testis. The average genome coverage of peaks identified by MACS2 for H3K4me1, H3K4me3, and H3K27ac was 6.2%, 2.2%, and 4.1%, respectively. Peaks were called for H3K27me3, a broad mark, using both MACS2 and SICERpy, with MACS2 identifying a greater average number of peaks (158K; 10.4% genome coverage) than SICERpy (32K; 24.3% genome coverage). Tissue-unique peaks were identified with BEDTools, and 1%-47% of peaks were unique to a tissue for a given histone modification. However, correlations among usable reads, total peak number, and unique peak number ranged from 0.01 to 0.92, indicating additional data collection is necessary to parse technical from true biological differences. These publicly available data expand a growing resource available for identifying regulatory regions within the equine genome, and they serve as a reference for genome regulation across healthy tissues of the adult Thoroughbred stallion.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1534461"},"PeriodicalIF":2.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in <i>RILPL1</i>.","authors":"Wenjing Wang, Tielun Yin, Xinyu Zhang, Zhaoxia Wang, Tianyun Wang, Shuo Zhang, Yingshuang Zhang, Dongsheng Fan","doi":"10.3389/fgene.2025.1472907","DOIUrl":"10.3389/fgene.2025.1472907","url":null,"abstract":"<p><strong>Background: </strong>Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding region of <i>LRP12</i>. Similar expansions in <i>GIPC1, NOTCH2NLC, and RILPL1</i> were later linked to OPDM, classifying the disease into OPDM1-4. OPDM4, associated with <i>RILPL1</i>, was discovered in 2022 with a few confirmed cases worldwide, leaving its clinical features and pathogenic mechanisms largely unexplored.</p><p><strong>Case presentation: </strong>We present a patient with OPDM4 who had suffered progressive ptosis, external ophthalmoplegia, pharyngeal weakness, facial muscle weakness, and distal limb weakness over the past 20 years. Electromyography (EMG) revealed myogenic damage and normal H-reflex latency. A biopsy of the left biceps brachii revealed myogenic changes with atypical rimmed vacuoles in some muscle fibers. Screening for extra-muscular system involvement revealed no obvious involvement of the heart or central nervous system. Genetic analysis confirmed 126 CGG repeat expansions in <i>RILPL1</i> and excluded abnormal CGG repeat expansions in <i>LRP12, GIPC1, and NOTCH2NLC</i>.</p><p><strong>Conclusion: </strong>This case broadens the spectrum of CGG repeat numbers in the <i>RILPL1</i> gene associated with OPDM4. In addition, systematic medical examinations revealed several new characteristics of OPDM4, which have not been reported previously, such as normal H reflex, potential mild cognitive impairment, etc. These findings expand our knowledge of the phenotypic spectrum of diseases caused by repeat CGG expansions in <i>RILPL1</i>.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1472907"},"PeriodicalIF":2.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative genomics of three non-hematophagous leeches (<i>Whitmania</i> spp.) with emphasis on antithrombotic biomolecules.","authors":"Fang Zhao, Zuhao Huang, Lizhou Tang, Wenting Zhang, Zichao Liu, Gonghua Lin","doi":"10.3389/fgene.2025.1548006","DOIUrl":"10.3389/fgene.2025.1548006","url":null,"abstract":"<p><p>Leeches are well known for blood-feeding habits and are widely used for medicinal purposes as they secrete various antithrombotic substances. However, some leeches exhibit non-hematophagous habits and their significance for medicinal use is controversial. Here we provide the chromosome-level genomes of two non-hematophagous leeches, <i>Whitmania acranulata</i> and <i>Whitmania laevis</i>, and, in combination with previous results from <i>Whitmania pigra</i>, we compared these genomes with an emphasis on antithrombotic biomolecules. All three species had the same chromosome number of 11. The genome size, repeat site percentage, and number of protein-coding genes of <i>W. laevis</i> (173.87 Mb, 28.28%, 23,818) were similar to those of <i>W. pigra</i> (169.37 Mb, 27.02%, 24,156), whereas these values of <i>W. acranulata</i> (181.72 Mb, 29.55%, 27,069) were higher than those of the other two leeches. <i>W. laevis</i> was a monophyletic clade of <i>W. pigra</i>, whereas <i>W. acranulata</i> had a paraphyletic relationship with <i>W. pigra</i>. The number of antithrombotic genes in <i>W. laevis</i> (<i>N</i> = 76) was similar to that of <i>W. pigra</i> (<i>N</i> = 79), whereas <i>W. acranulata</i> (<i>N</i> = 102) had apparently more such genes. Of the 21 gene families, 9 and 11 were differentially expressed in <i>W. acranulata</i> and <i>W. laevis</i> compared to <i>W. pigra</i>, respectively. The expression profiles of the antithrombotic gene families were more similar between <i>W. acranulata</i> and <i>W. laevis</i>. Although there were several cases of gene loss or pseudogenization, most antithrombotic genes of the three <i>Whitmania</i> species were intact and transcribable. These results provide valuable insights into the evolution of non-hematophagous leeches and development of antithrombotic drugs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1548006"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Novel applications of epitope biology to improve outcomes in transplantation.","authors":"James H Lan, Robert Liwski, Alberto Cardoso Martins Lima, Sandra Tafulo","doi":"10.3389/fgene.2025.1572987","DOIUrl":"10.3389/fgene.2025.1572987","url":null,"abstract":"","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1572987"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of the role of miRNA variants in neurodegenerative brain diseases.","authors":"Alexandros Frydas, Rita Cacace, Julie van der Zee, Christine Van Broeckhoven, Eline Wauters","doi":"10.3389/fgene.2025.1506169","DOIUrl":"10.3389/fgene.2025.1506169","url":null,"abstract":"<p><strong>Introduction: </strong>miRNAs are small noncoding elements known to regulate different molecular processes, including developmental and executive functions in the brain. Dysregulation of miRNAs could contribute to brain neurodegeneration, as suggested by miRNA profiling studies of individuals suffering from neurodegenerative brain diseases (NBDs). Here, we report rare miRNA variants in patients with Alzheimer's dementia (AD) and frontotemporal dementia (FTD).</p><p><strong>Methods: </strong>We initially used whole exome sequencing data in a subset of FTD patients (n = 209) from Flanders-Belgium. We then performed targeted resequencing of variant-harboring miRNAs in an additional subset of FTD patients (n = 126) and control individuals (n = 426). Lastly, we sequenced the <i>MIR885</i> locus in a Flanders-Belgian AD cohort (n = 947) and a total number of n = 755 controls.</p><p><strong>Results: </strong>WES identified rare seed variants in <i>MIR656, MIR423, MIR122 and MIR885</i> in FTD patients. Most of these miRNAs bind to FTD-associated genes, implicated in different biological pathways. Additionally, some miRNA variants create novel binding sites for genes associated with FTD. Sequencing of the <i>MIR885</i> locus in the AD cohort initially showed a significant enrichment of <i>MIR885</i> variants in AD patients compared to controls (SKAT-O, p-value = 0.026). Genetic association was not maintained when we included sex and <i>APOE</i> status as covariates. Using the miRVaS prediction tool, variants rs897551430 and rs993255773 appeared to evoke significant structural changes in the primary miRNA. These variants are also predicted to strongly downregulate mature <i>miR885</i> levels, in line with what is reported for <i>MIR885</i> in the context of AD.</p><p><strong>Discussion: </strong>Functional investigation of miRNAs/variants described in this study could propose novel miRNA-mediated molecular cascades in FTD and AD pathogenicity. Furthermore, we believe that the genetic evidence presented here suggests a role for <i>MIR885</i> in molecular mechanisms involved in AD and warrants genetic follow-up in larger cohorts to explore this hypothesis.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1506169"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphological description and DNA barcoding research of nine <i>Syringa</i> species.","authors":"Meiqi Zhang, Xiaoou Zhai, Lianqing He, Zhen Wang, Huiyan Cao, Panpan Wang, Weichao Ren, Wei Ma","doi":"10.3389/fgene.2025.1544062","DOIUrl":"10.3389/fgene.2025.1544062","url":null,"abstract":"<p><strong>Introduction: </strong><i>Syringa</i> plants are highly valued for their ornamental qualities. However, traditional morphological identification methods are inefficient for discriminating <i>Syringa</i> species. DNA barcoding has emerged as a powerful alternative for species identification, but research on <i>Syringa</i> DNA barcodes is still limited.</p><p><strong>Methods: </strong>This study employed a multi-locus strategy, combining the nuclear <i>ITS2</i> region with chloroplast genome regions <i>psbA-trnH</i>, <i>trnL-trnF</i>, and <i>trnL</i> to evaluate the effectiveness of <i>Syringa</i> DNA barcodes. The assessment involved genetic distance analysis, BLAST searches in NCBI, sequence character analysis, and phylogenetic tree construction, examining both individual and combined sequences.</p><p><strong>Results: </strong>The genetic distance analysis showed that the sequence combination of <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i> exhibited a variation pattern where most interspecific genetic distances were greater than intraspecific genetic distances. The Wilcoxon signed-rank test results indicated that, except for <i>psbA-trnH</i>, the interspecific differences of the <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i> sequence were greater than those of all single and combined sequences. BLAST analysis revealed that the identification rate for nine <i>Syringa</i> species using <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i> could reach 98.97%. The trait-based method also demonstrated that <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i> could effectively identify the nine <i>Syringa</i> species. Furthermore, the neighbor-joining (NJ) tree based on <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i> clustered each of the nine <i>Syringa</i> species into distinct clades.</p><p><strong>Discussion: </strong>The study ultimately selected the barcode <i>ITS2</i> + <i>psbA-trnH</i> + <i>trnL-trnF</i>, with an identification rate of 93.6%, as the optimal barcode for identifying nine species of <i>Syringa</i> trees. This combination proved to be highly effective in discriminating <i>Syringa</i> species, highlighting the potential of DNA barcoding as a reliable tool for species identification in <i>Syringa</i>. Future research could focus on expanding the sample size and exploring additional genetic markers to further enhance the accuracy and applicability of DNA barcoding in <i>Syringa</i> species identification.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1544062"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the underlying molecular connections: a bioinformatics approach to link melanoma and Parkinson's disease.","authors":"Limei Zhang, Dailin Li, Xu Zheng, Moli Wu, Qijun Yao, Haoran Chen, Zhiqiang Ye, Bo Yuan","doi":"10.3389/fgene.2025.1526018","DOIUrl":"10.3389/fgene.2025.1526018","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Melanoma, a highly aggressive form of skin cancer, and Parkinson's disease (PD), a progressive neurodegenerative disorder, have been epidemiologically linked, showing a positive association that suggests a shared etiology. This association implies that individuals with one condition may have an increased risk of developing the other. However, the specific molecular mechanisms underlying this relationship remain unclear. This study aimed to elucidate the molecular mechanisms by conducting a comprehensive comparative analysis of gene expression profiles in both PD and melanoma to identify common differentially expressed genes (DEGs) that may contribute to the pathophysiological overlap between these two conditions.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We analyzed two independent publicly available genomic datasets to identify overlapping DEGs associated with both PD and melanoma. Regulatory networks, including transcription factors (TFs), DEGs, and microRNAs (miRNAs), were constructed. Protein-protein interaction (PPI) networks were established to identify hub genes. Additionally, we investigated the interplay between PD, melanoma, and immune cell infiltration to uncover potential correlations between the expression levels of hub genes and specific subsets of immune cells. Molecular docking studies were performed to identify potential therapeutic agents targeting the DEGs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 41 overlapping DEGs were identified, including VSNL1, ATP6V1G2, and DNM1, which were significantly down-regulated in both PD and melanoma patients. These genes play critical roles in biological processes, cellular components, and molecular functions relevant to the pathogenesis of both diseases. VSNL1 is associated with synaptic vesicle fusion and may impact neuronal communication compromised in PD. ATP6V1G2, a subunit of the V-ATPase, is involved in the dysregulated pH homeostasis observed in melanoma. DNM1, a key player in vesicle trafficking, may influence aberrant cellular transport processes in both diseases. Regulatory and PPI networks revealed potential hub genes and their interactions. Molecular docking studies identified retinoic acid as a potential therapeutic agent targeting VSNL1, ATP6V1G2, and DNM1.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Discussion: &lt;/strong&gt;Our study provides insights into the shared molecular characteristics of PD and melanoma, identifying potential biomarkers for early diagnosis and prognosis and revealing new therapeutic targets. The discovery of retinoic acid as a promising therapeutic agent represents a significant step forward in drug development and treatment strategies for these diseases. This comprehensive analysis enhances our understanding of the intricate molecular mechanisms underlying the association between PD and melanoma, paving the way for further research and therapeutic advancements. The findings hold the promise of improved diagnosis, prognosis, and personalized treatment strategies","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1526018"},"PeriodicalIF":2.8,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11891206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LINC00461 SNPs rs933647 and rs201864123 modify the risk of adenoid hypertrophy susceptibility for children in South China.","authors":"Chao Hou, Xilian Luo, Xin Wan, Kaining Chen, Zhongren Xian, Kaixiong Xu, Yingjia Zeng, Chenlu Wang, Wan Yang, Zilin Zheng, Yueling Lin, Zhaojin Lu, Yanqiu Chen, Di Che, Xiaoqiong Gu","doi":"10.3389/fgene.2025.1509053","DOIUrl":"10.3389/fgene.2025.1509053","url":null,"abstract":"<p><strong>Background: </strong>Adenoidal hypertrophy (AH) is commonly observed in childhood and closely linked to obstructive sleep apnea (OSA). Despite the high prevalence of AH, its pathophysiological mechanisms remain incompletely understood. We attempt to explore this issue from a genetic perspective. Elevated levels of LINC00461 have been identified in OSA tissues. We aimed to explore the relationship between susceptibility to adenoid hypertrophy and LINC00461 gene polymorphisms.</p><p><strong>Methods: </strong>We genotyped the LINC00461 single nucleotide polymorphisms (SNPs) rs933647 and rs201864123 in 546 AH patients and 574 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the association between the SNPs and AH risk. The SIPI (Susceptible-Infected-Protected-Infected) method was utilized to analyze SNP-SNP interactions between rs933647 and rs201864123.</p><p><strong>Results: </strong>Our study found that the rs933647 GA polymorphism was associated with an increased risk of AH. Similarly, the T allele of SNP rs201864123 increased AH risk in southern Chinese children. Furthermore, SIPI analysis demonstrated an interaction between these SNPs associated with adenoid hypertrophy risk.</p><p><strong>Conclusion: </strong>The LINC00461 rs933647 GA genotype and rs201864123 T variant may contribute to the susceptibility of AH in the child population of China.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1509053"},"PeriodicalIF":2.8,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}