Gene Reports最新文献

筛选
英文 中文
Forensic and phylogenetic characterization of 24 autosomal STR in the Sindhi population of India 印度信德人24例常染色体STR的法医学和系统发育特征
IF 1
Gene Reports Pub Date : 2025-05-01 DOI: 10.1016/j.genrep.2025.102234
Khushboo Gautam , Chanchal Devnani , Shivani Dixit , Pankaj Shrivastav , Shruti Dasgupta , Madhusudan Reddy Nandineni , Kumarasamy Thangaraj , Rakesh Rawal , Gyaneshwer Chaubey
{"title":"Forensic and phylogenetic characterization of 24 autosomal STR in the Sindhi population of India","authors":"Khushboo Gautam ,&nbsp;Chanchal Devnani ,&nbsp;Shivani Dixit ,&nbsp;Pankaj Shrivastav ,&nbsp;Shruti Dasgupta ,&nbsp;Madhusudan Reddy Nandineni ,&nbsp;Kumarasamy Thangaraj ,&nbsp;Rakesh Rawal ,&nbsp;Gyaneshwer Chaubey","doi":"10.1016/j.genrep.2025.102234","DOIUrl":"10.1016/j.genrep.2025.102234","url":null,"abstract":"<div><div>Short Tandem Repeats (STR) genotyping is of utmost importance in forensic casework. Thus, this study, for the first time, explores the forensic profile of the Sindhi population of India, a community with deep historical roots in the Indus Valley Civilization, through the analysis of 24 autosomal short tandem repeat (STR) loci. We found a total of 292 alleles for 24 STRs, and for each locus, the number of alleles ranged from 8 to 22. Out of 24 loci analysed, we obtained the highest genetic diversity for SE33 (0.947) and the lowest for TPOX (0.646) loci. We observed the highest Power of Discrimination (PD) for SE33 (0.988) and the lowest for TPOX (0.79) loci. SE33 locus has the highest number of alleles (36), while the CSF1PO, D5S818, TH01, and TPOX loci have the lowest (6 each). Research has revealed a significant genetic link between the Indian Sindhi population and their ancestral homeland. Based on the present analysis, we conclude that these 24 STR makers used in the present study are highly informative for individual identification, paternity testing, and population genetic studies.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102234"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143890514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A complete mitochondrial genome-based phylogeny of gooseneck barnacles confirms the sister group relationship between the eastern Pacific Pollicipes elegans and the eastern Atlantic P. pollicipes 鹅颈藤壶的完整线粒体基因组系统发育证实了东太平洋elegans和东大西洋P. policipes之间的姐妹群关系
IF 1
Gene Reports Pub Date : 2025-04-29 DOI: 10.1016/j.genrep.2025.102238
Ruben Alfaro , Guillermo Mantilla , Alan Marín
{"title":"A complete mitochondrial genome-based phylogeny of gooseneck barnacles confirms the sister group relationship between the eastern Pacific Pollicipes elegans and the eastern Atlantic P. pollicipes","authors":"Ruben Alfaro ,&nbsp;Guillermo Mantilla ,&nbsp;Alan Marín","doi":"10.1016/j.genrep.2025.102238","DOIUrl":"10.1016/j.genrep.2025.102238","url":null,"abstract":"<div><div>Gooseneck barnacles are a fascinating group of crustaceans, and their taxonomic classification has attracted the attention of several specialists, including Charles Darwin, who was the first to note the close relationship between two species of gooseneck barnacles found on the eastern coasts of the Pacific, <em>Pollicipes elegans</em>, and the Atlantic, <em>P. pollicipes</em>. A third species from the eastern Pacific, <em>P. polymerus</em>, is believed to have diverged earlier from this group. Here, we used short-read sequences from GenBank to assemble the first complete mitochondrial genome of <em>P. elegans</em>. This genome was then used to assess the relationships of cirripede species from the superorder Thoracicalcarea through a complete mitochondrial genome-based phylogenetic analysis. Our findings revealed that both <em>P. elegans</em> and <em>P. pollicipes</em> clustered together in a well-supported discrete clade, reinforcing the close relationship between them. On the other hand, <em>P. polymerus</em> emerged as a basal branch within the <em>Pollicipes</em> lineage, indicating its earlier divergence from the group. Further efforts should aim to sequence the complete mitogenomes of other species within the order Pollicipedomorpha. Such endeavors will enable a more comprehensive phylogenetic analysis of this group, whose classification continues to be a subject of debate.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102238"},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tissue-specific kinetics of glycerol kinase and its expression pattern in mouse: a comparative analysis 甘油激酶的组织特异性动力学及其在小鼠中的表达模式:比较分析
IF 1
Gene Reports Pub Date : 2025-04-26 DOI: 10.1016/j.genrep.2025.102237
Riva M. Rani, Basukshisha Wanniang, Bidyadhar Das
{"title":"Tissue-specific kinetics of glycerol kinase and its expression pattern in mouse: a comparative analysis","authors":"Riva M. Rani,&nbsp;Basukshisha Wanniang,&nbsp;Bidyadhar Das","doi":"10.1016/j.genrep.2025.102237","DOIUrl":"10.1016/j.genrep.2025.102237","url":null,"abstract":"<div><div>Glycerol kinase (GK) catalyzes the transfer of a phosphate group from ATP to glycerol. GK is the key enzyme for utilizing glycerol as a carbon and energy source. The functionality of GK displays distinctive characteristics based on the tissue type, reflecting the distinct glycerol metabolic pathways in different tissues. Enzyme kinetics and western blot analysis were performed using different mouse tissues to determine the activity and protein expression of GK. The highest specific activities of GK were observed in muscle and heart tissues, with 1.433 U/mg protein and 1.451 U/mg protein, respectively. The enzyme exhibited optimal activity at pH 7.5 and showed consistency in various buffers. The highest <em>V</em>max for ATP was in muscle and heart tissues (3.075 U/mg protein and 2.743 U/mg protein), with the highest <em>K</em>m for ATP in muscle and testis (0.529 mM and 0.582 mM). Additionally, for glycerol, the highest <em>V</em>max was also in muscle and heart tissues (2.970 U/mg protein and 3.220 U/mg protein), with the highest <em>K</em>m in these tissues being 6.496 μM and 7.142 μM, respectively. Western blot analysis indicated that GK is expressed in all tissues analyzed. This study revealed the tissue-specific functionality of GK in various mouse tissues, emphasising its crucial role in glycerol metabolism. This study also provided basic outlines of GK expression patterns in various tissues of mice and may provide important information for the regulation of GK for its critical role in type 2 diabetes mellitus.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102237"},"PeriodicalIF":1.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Detecting signatures of episodic positive selection based on observed amino acids in hemagglutinin of H3N2 human influenza A virus 基于观察到的H3N2人甲型流感病毒血凝素氨基酸的偶发性阳性选择特征检测
IF 1
Gene Reports Pub Date : 2025-04-24 DOI: 10.1016/j.genrep.2025.102233
Yoshiyuki Suzuki
{"title":"Detecting signatures of episodic positive selection based on observed amino acids in hemagglutinin of H3N2 human influenza A virus","authors":"Yoshiyuki Suzuki","doi":"10.1016/j.genrep.2025.102233","DOIUrl":"10.1016/j.genrep.2025.102233","url":null,"abstract":"<div><div>In the parsimony method for detecting natural selection at amino acid sites of proteins, the numbers of synonymous (<span><math><msub><mi>d</mi><mi>S</mi></msub></math></span>) and nonsynonymous (<span><math><msub><mi>d</mi><mi>N</mi></msub></math></span>) substitutions that have accumulated over the evolutionary history of observed sequences were computed assuming that any amino acid was compatible at each site. Positive selection was inferred to have operated recurrently when the null hypothesis of no selection was rejected with <span><math><msub><mi>d</mi><mi>S</mi></msub><mo>&lt;</mo><msub><mi>d</mi><mi>N</mi></msub></math></span>. Here an attempt to detect episodic positive selection within the framework of parsimony method was demonstrated. The <span><math><msub><mi>d</mi><mi>S</mi></msub></math></span> and <span><math><msub><mi>d</mi><mi>N</mi></msub></math></span> values were computed assuming that only the observed amino acids were compatible at each site. Positive selection was inferred to have operated episodically when the null hypothesis of the same fitness effects among observed amino acids was rejected with <span><math><msub><mi>d</mi><mi>S</mi></msub><mo>&gt;</mo><msub><mi>d</mi><mi>N</mi></msub></math></span>. In the analysis of 18,444 sequences for hemagglutinin of H3N2 human influenza A virus, recurrent and episodic positive selections were inferred mainly at the sites related to antigenicity. Episodic positive selection was detected particularly at the sites under epistasis. Although it may be necessary to eliminate slightly deleterious amino acids from the population genetic data, the analysis based on observed amino acids may be useful for screening the sites with signatures of episodic positive selection.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102233"},"PeriodicalIF":1.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation of miRNA-124-3p and SP1 expression levels in spinal cord injury 脊髓损伤中miRNA-124-3p与SP1表达水平的相关性
IF 1
Gene Reports Pub Date : 2025-04-23 DOI: 10.1016/j.genrep.2025.102231
Maryam Zand , Mehdi Sadegh , Behzad Khansarinejad , Mahdieh Mondanizadeh
{"title":"Correlation of miRNA-124-3p and SP1 expression levels in spinal cord injury","authors":"Maryam Zand ,&nbsp;Mehdi Sadegh ,&nbsp;Behzad Khansarinejad ,&nbsp;Mahdieh Mondanizadeh","doi":"10.1016/j.genrep.2025.102231","DOIUrl":"10.1016/j.genrep.2025.102231","url":null,"abstract":"<div><h3>Background</h3><div>Spinal cord injury (SCI) is a serious traumatic event affecting the central nervous system, leading to severe mobility and functional impairments. MicroRNAs, particularly miR-124, play a crucial role in neurogenesis and neuronal protection in this condition. Concurrently, Specific Protein 1 (SP1) is involved in various cellular processes, including cell growth and apoptosis. This study investigates the relationship between miR-124-3p and SP1 expression levels in a rat model of spinal cord injury.</div></div><div><h3>Methods</h3><div>An experimental study was conducted using 72 male Wistar rats, divided into three groups: SCI, sham, and control. A standardized SCI model was established through a mechanical compression method at the T9-T10 spinal region. Motor function was assessed using the Basso, Beattie, and Bresnahan (BBB) scoring system at four-time points: 1 h, 1 day, 3 days, and 7 days post-injury. Histological examination was performed via Nissl staining, while RT-qPCR was used to quantify miR-124-3p and SP1 expression levels in spinal cord tissues.</div></div><div><h3>Results</h3><div>The BBB scores indicated a significant decline in motor function across all time points post-SCI. Histological analysis confirmed successful injury induction. Notably, miR-124-3p expression decreased significantly in the SCI group compared to controls, whereas SP1 levels increased significantly following injury.</div></div><div><h3>Conclusions</h3><div>This study demonstrates a marked reduction of miR-124-3p alongside an elevation of SP1 levels in response to SCI. These findings suggest a complex interplay between these molecules that may influence neuronal response and recovery mechanisms post-SCI. Understanding this relationship could provide insights into potential therapeutic targets for enhancing recovery following SCIs.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102231"},"PeriodicalIF":1.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mapping immunogenic epitopes of F13L protein in Mpox Clade Ib: HLA-B*08 and HLA-DRB1*01 as predictors of antigen presentation, disease incidence, and lethality Mpox Clade Ib中F13L蛋白的免疫原性表位定位:HLA-B*08和HLA-DRB1*01作为抗原呈递、疾病发病率和致死率的预测因子
IF 1
Gene Reports Pub Date : 2025-04-17 DOI: 10.1016/j.genrep.2025.102232
Israel Lara-Vega , Armando Vega-López
{"title":"Mapping immunogenic epitopes of F13L protein in Mpox Clade Ib: HLA-B*08 and HLA-DRB1*01 as predictors of antigen presentation, disease incidence, and lethality","authors":"Israel Lara-Vega ,&nbsp;Armando Vega-López","doi":"10.1016/j.genrep.2025.102232","DOIUrl":"10.1016/j.genrep.2025.102232","url":null,"abstract":"<div><div>Mpox, an infectious disease caused by the MPXV virus, can lead to painful skin rashes, lymphadenopathy, and fever. While most individuals recover fully, some develop severe illness. The Clade Ib Mpox outbreak is primarily driven by human-to-human transmission, underscoring the urgent need for a coordinated response at national, regional, and international levels. The prediction of epitopes based on human leukocyte antigen (HLA) antigen presentation and their association with disease outcomes forms a crucial basis for developing targeted therapies. This study conducted a bioinformatic prediction of T-cell epitopes and their HLA class I and II-restricted alleles to identify immunogenic epitopes and HLA alleles of the Clade Ib F13L protein of Mpox, an essential protein for viral maturation and the formation of enveloped virions. Moreover, we explored correlations between these epitopes and incidence and lethality rates in hospitalized patients, using data from various regions as an example. We identified a set of 10 epitopes with immunogenic potential and several HLA alleles predicted to efficiently present these epitopes to T cells. Notably, a statistically significant negative correlation was observed between the frequency of HLA-B*08 and HLA-DRB1*01 alleles and incidence and lethality rates in hospitalized patients in Mexico, illustrating potential broader implications.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102232"},"PeriodicalIF":1.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic parameters, phenotypic diversity, selection differential and gain analysis through EFA, HCA and multivariate analysis for growth, yield and yield components in potato (Solanum tuberosum L) 马铃薯(Solanum tuberosum L)生长、产量及其组成因素的遗传参数、表型多样性、选择差异和增益分析(EFA、HCA及多变量分析)
IF 1
Gene Reports Pub Date : 2025-04-17 DOI: 10.1016/j.genrep.2025.102225
K. Hanume Gowda , H. Amarananjundeswara , B. Fakrudin , K.R. Vasudeva , Jyoti Kattegoudar , B. Doddabasappa
{"title":"Genetic parameters, phenotypic diversity, selection differential and gain analysis through EFA, HCA and multivariate analysis for growth, yield and yield components in potato (Solanum tuberosum L)","authors":"K. Hanume Gowda ,&nbsp;H. Amarananjundeswara ,&nbsp;B. Fakrudin ,&nbsp;K.R. Vasudeva ,&nbsp;Jyoti Kattegoudar ,&nbsp;B. Doddabasappa","doi":"10.1016/j.genrep.2025.102225","DOIUrl":"10.1016/j.genrep.2025.102225","url":null,"abstract":"<div><div>Potato is a globally significant food crop and a vital source of nutrition, plays a crucial role in food security due to its high productivity, nutritional value and adaptability to diverse agro-climatic conditions. This study was conducted at Horticulture Research and Extension Centre, Haasan during kharif and rabi season of 2021–22, aimed to investigates genetic parameters, phenotypic diversity, selection differential and gain to identify high yielding superior potato genotypes using Pearson's correlation analysis, hierarchical cluster analysis (HCA), principal component analysis (PCA), exploratory factor analysis (EFA) and multi-trait genotype ideotype distance index (MGIDI) analysis to enhance growth, yield and yield components. The pooled ANOVA revealed significant genotypic, environmental and G × E interactions, with stable growth, yield traits and genotype-specific responses for tuber size and weight. Significant positive correlations were found between tuber yield per plant and traits like tuber size (<em>r</em> = 0.52), tuber diameter (<em>r</em> = 0.44) and plant height (<em>r</em> = 0.50). Hierarchical clustering identified 2 major clusters, with Cluster 1 genotypes showing high performance for growth and yield traits. PCA revealed 6 components explaining 81.05 % of variance, with PC1 associated with tuber yield per hectare (0.34), tuber yield per plot (0.34), number of tubers per plant (0.33), and tuber yield per plant (0.33) and PC2 on number of leaves at 75 days after planting (DAP) (0.52), number of internodes (0.49) and number of branches per plant at 75 DAP (0.43), while the PCA biplot grouped genotypes into 4 quadrants, highlighting superior performance in Quadrant II and lower performance in Quadrant IV for growth and yield traits. The factor analysis identified 6 factors influencing growth, yield, and yield components in potatoes. FA1 primarily relates to yield traits, such as tuber yield per hectare (−0.94), number of tubers per plot (−0.87), tuber yield per plot (−0.94), and haulm yield on a fresh weight basis (−0.80). FA2 is associated with vegetative growth, capturing the number of branches at 75 DAP (0.79), number of leaves at 75 DAP (0.69), and number of internodes (0.87). High selection gain was reported for number of tubers per plant (31.7 %), number of tubers per plant (24.1 %), tuber yield per plant (23.8 %) emphasizing breeding potential. The MGIDI analysis identified genotypes P-85, P-73, RH-2, P-69, P-83, and P-58 as superior for multiple traits. This study successfully identified superior potato genotypes with high yield potential and stable growth traits through genetic parameter analysis, PCA, HCA, EFA, selection differential, and MGIDI, offering valuable insights for targeted breeding to enhance productivity and adaptability.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102225"},"PeriodicalIF":1.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Harnessing genetic potentials for drought tolerance in wheat (Triticum aestivum L.) using tolerance indices and molecular markers 利用耐旱指数和分子标记挖掘小麦(Triticum aestivum L.)的耐旱遗传潜力
IF 1
Gene Reports Pub Date : 2025-04-16 DOI: 10.1016/j.genrep.2025.102230
Mst. Anamika Amzad , Md. Arifuzzaman , Md. Ashraful Alam
{"title":"Harnessing genetic potentials for drought tolerance in wheat (Triticum aestivum L.) using tolerance indices and molecular markers","authors":"Mst. Anamika Amzad ,&nbsp;Md. Arifuzzaman ,&nbsp;Md. Ashraful Alam","doi":"10.1016/j.genrep.2025.102230","DOIUrl":"10.1016/j.genrep.2025.102230","url":null,"abstract":"<div><div>Drought is a major abiotic stressor in bread wheat that causes substantial yield losses globally. So, the investigation was conducted to find out drought tolerant genotypes in bread wheat using tolerance indices and molecular characterization at juvenile and grain filling stages. The experiments were conducted with 30 bread wheat genotypes and 54 simple sequence repeats (SSRs) alleles. The experiment was designed as randomized complete block design with three treatments viz. 0 M, 0.2 M, and 0.4 M mannitol solution at juvenile stages and split plot design with two treatments viz. control and drought at grain filling stages. The results revealed significant variations among the genotypes for traits under study in both stages. To reveal drought tolerance among the genotypes, six drought tolerance indices were employed. The genotype BARI Gom 30, BARI Gom 32, BARI Gom 22, BARI Gom 26, BARI Gom 27 and BWMRI-1 carried superior rank score and regarded as drought tolerant genotypes. For molecular genetic characterization, in total 54 alleles were detected using SSRs where number of alleles locus ranged from 4 to 9 with an average of 5.4. The 30 bread wheat genotypes grouped into two populations and four unique clusters. Finally, considering the morpho-physiological and molecular study, the genotypes BARI Gom 22, BARI Gom26, BARI Gom 30 and BARI Gom 32 are identified as drought tolerant genotypes and provide an undertaking aims for further research and breeding efforts to develop wheat varieties with tolerance against drought to subtropical environments.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102230"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143854435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic categorization of congenital genitourinary abnormalities from an embryological perspective 从胚胎学角度探讨先天性泌尿生殖系统异常的遗传分类
IF 1
Gene Reports Pub Date : 2025-04-16 DOI: 10.1016/j.genrep.2025.102229
Daniel Eduardo Bejarano-García , Ana María Vega-Pantoja , Jessica M. Forero-Delgadillo , Vanessa Amparo Ochoa-Jiménez , Alexis Gomez , Matthew G. Sampson , Harry M. Pachajoa-Londoño , Alejandro Padilla-Guzmán , Ana María Portilla-Buenaventura , Jaime M. Restrepo
{"title":"Genetic categorization of congenital genitourinary abnormalities from an embryological perspective","authors":"Daniel Eduardo Bejarano-García ,&nbsp;Ana María Vega-Pantoja ,&nbsp;Jessica M. Forero-Delgadillo ,&nbsp;Vanessa Amparo Ochoa-Jiménez ,&nbsp;Alexis Gomez ,&nbsp;Matthew G. Sampson ,&nbsp;Harry M. Pachajoa-Londoño ,&nbsp;Alejandro Padilla-Guzmán ,&nbsp;Ana María Portilla-Buenaventura ,&nbsp;Jaime M. Restrepo","doi":"10.1016/j.genrep.2025.102229","DOIUrl":"10.1016/j.genrep.2025.102229","url":null,"abstract":"<div><div>With the acquisition of more advanced technology, new concepts have emerged that contribute to understanding pathologies in the pediatric population, including nephropathies and uropathies, while knowledge of embryology, genetics, and molecular biology has helped refine diagnostic and therapeutic approaches. Various areas of Pediatric Nephrology apply these scientific advancements in genetics and molecular biology, such as the diagnosis and management of renal anomalies, renal neoplasms, and hypertension. These topics, previously underexplored in children with kidney disease from a genetic standpoint due to their low incidence and lack/expense of genotyping technologies, are gaining recognition due to their implications in the progression toward chronic kidney failure.</div><div>This review aims to provide insights into the relevance of genetic evaluation of extra-renal anomalies related to kidney and urinary tract malformations, such as in cases of single umbilical artery, underdevelopment of facial bones, abnormalities of the orbits and auricles, congenital heart diseases, anorectal malformations, external genitalia alterations, supernumerary nipples, as well as all abnormalities observed during prenatal ultrasounds.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102229"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A reappraisal of chloroplast genetic SNPs in phylogeny and barcoding of Pteris species (genus Pteris L.): Multispecies coalescence analysis, ancient hybridization, and deep coalescence 重新评估叶绿体基因 SNPs 在紫檀属物种系统发育和条形码中的作用:多物种聚合分析、远古杂交和深度聚合
IF 1
Gene Reports Pub Date : 2025-04-16 DOI: 10.1016/j.genrep.2025.102224
Maedeh Alaeifar, Masoud Sheidai, Fahimeh Koohdar
{"title":"A reappraisal of chloroplast genetic SNPs in phylogeny and barcoding of Pteris species (genus Pteris L.): Multispecies coalescence analysis, ancient hybridization, and deep coalescence","authors":"Maedeh Alaeifar,&nbsp;Masoud Sheidai,&nbsp;Fahimeh Koohdar","doi":"10.1016/j.genrep.2025.102224","DOIUrl":"10.1016/j.genrep.2025.102224","url":null,"abstract":"<div><div>The genus <em>Pteris</em> L. (Pteridaceae) is one of the largest fern genera, comprising about 200 to 250 species distributed globally. There is ongoing debate regarding species classification and phylogeny within <em>Pteris</em>, as phylogenetic studies have revealed incongruences between trees constructed from various genetic regions. To address this, we conducted a multispecies coalescence analysis of <em>matK</em> and <em>rbcL</em> sequences using publicly available data, aiming to identify genetic regions suitable for phylogenetic analysis and molecular barcoding of <em>Pteris</em>. We employed methods such as STAR-BEAST and contained gene coalescence analyses for phylogenetic reconstruction, as well as redundancy analysis (RDA) and latent factor mixed model analysis to pinpoint biologically significant SNPs.</div><div>Our study highlights phylogenetic relationships among <em>Pteris</em> species based on chloroplast DNA sequences, revealing discordance between <em>matK</em> and <em>rbcL</em>. Findings indicated deep coalescence and incomplete lineage sorting (ILS) within the genus. Both D-statistics and admixture analyses showed evidence of genetic admixture and introgression. Notably, <em>matK</em> sequences demonstrated higher success in species delineation than <em>rbcL</em>, with combined data enhancing taxonomic resolution and indicating the role of SNPs in adaptations to local environments. Additionally, species delineation analyses using the GMYC and ASAP methods revealed congruent results, with most species clustering closely, although a few exceptions were observed. The use of concatenated DNA sequences successfully delineated sections within <em>Pteris</em>, highlighting the taxonomic utility of these markers. Divergence time estimation from the concatenated sequences indicated a deep evolutionary history for <em>P. tremula</em>, with the majority of species diverging more recently within the past 1 to 15 million years, further supporting rapid speciation within the genus.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102224"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信