Journal of Applied Genetics最新文献

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Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease. 成人肺动脉高压合并先天性心脏病的罕见T-box变异。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-24 DOI: 10.1007/s13353-025-00958-4
Li Li, Guoliang Chen, Nating Qiao, Jianwei Li, Zhixin Wang, Yaxuan Lyu, Yanqing Guo
{"title":"Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease.","authors":"Li Li, Guoliang Chen, Nating Qiao, Jianwei Li, Zhixin Wang, Yaxuan Lyu, Yanqing Guo","doi":"10.1007/s13353-025-00958-4","DOIUrl":"https://doi.org/10.1007/s13353-025-00958-4","url":null,"abstract":"<p><p>We report the clinical and genetic features of three adult patients with congenital heart disease-associated pulmonary arterial hypertension (CHD-PAH) carrying rare T-box variants. All three patients had weakness and cyanosis. Two patients had chest tightness, dry cough, and hemoptysis, and one patient had lower limb edema. Besides meeting the diagnostic criteria of CHD-PAH, three patients respectively presented the clinical features of specific syndromes. Specifically, patient 1 presented with clinical features consistent with tetralogy of Fallot, patient 2 presented with characteristics associated with small patella syndrome, and the patient 3 exhibited features consistent with Holt-Oram syndrome. Exome sequencing revealed that the TBX1 (c.820 T > C) variant was identified in patient 1, the TBX4 (c.251del) variant was detected in patient 2 and the TBX5 (c.486del) variant was found in patient 3. Our study for the first time found that CHD-PAH patients carry T-box gene variants, which has added new clues to understanding the pathogenesis of CHD-PAH and is expected to provide new targets and ideas for the diagnosis and treatment of CHD-PAH.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Functional analysis of HvSNAC1 in stomatal dynamics and drought adaptation. HvSNAC1在气孔动力学和干旱适应中的功能分析。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-18 DOI: 10.1007/s13353-025-00956-6
Marzena Kurowska, Agnieszka Janiak, Krzysztof Sitko, Izabela Potocka, Monika Gajecka, Ewa Sybilska, Tomasz Płociniczak, Sabina Lip, Magdalena Rynkiewicz, Klaudia Wiecha, Małgorzata Nawrot, Agata Daszkowska-Golec, Iwona Szarejko
{"title":"Functional analysis of HvSNAC1 in stomatal dynamics and drought adaptation.","authors":"Marzena Kurowska, Agnieszka Janiak, Krzysztof Sitko, Izabela Potocka, Monika Gajecka, Ewa Sybilska, Tomasz Płociniczak, Sabina Lip, Magdalena Rynkiewicz, Klaudia Wiecha, Małgorzata Nawrot, Agata Daszkowska-Golec, Iwona Szarejko","doi":"10.1007/s13353-025-00956-6","DOIUrl":"https://doi.org/10.1007/s13353-025-00956-6","url":null,"abstract":"<p><p>Drought stress can damage crop growth and lead to a decline in yield, thereby affecting food security, especially in regions vulnerable to climate change. SNAC1 (stress-responsive NAC1), the NAC transcription factor family member, plays a crucial role in stomatal movement regulation. Effective regulation of stomatal movement is essential for protecting plants from water loss during adverse conditions. Our hypothesis revolves around altering HvSNAC1 activity by introducing a point mutation in its encoding gene, thereby influencing stomatal dynamics in barley. Two TILLING mutants, each harboring missense mutations in the NAC domain, exhibited higher stomatal density after drought stress compared to the parent cultivar 'Sebastian'. These mutants also demonstrated distinct patterns of ABA-induced stomatal movement compared to the wild-type (WT). To delve deeper, we conducted a comprehensive analysis of the transcriptomes of these mutants and the parent cultivar 'Sebastian' under both optimal watering conditions and 10 days of drought stress treatment. We identified differentially expressed genes (DEGs) between the mutants and WT plants under control and drought conditions. Furthermore, we pinpointed DEGs specifically expressed in both mutants under drought conditions. Our experiments revealed that the cis-regulatory motif CACG, previously identified in Arabidopsis and rice, is recognized by HvSNAC1 in vitro. Enrichment analysis led to the identification of the cell wall organization category and potential target genes, such as HvEXPA8 (expansin 8), HvXTH (xyloglucan endotransglucosylase/hydrolase), and HvPAE9 (pectin acetylesterase 9), suggesting their regulation by HvSNAC1. These findings suggest that HvSNAC1 may play a role in regulating genes associated with stomatal density, size and reopening.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Is it possible to select body weight without compromising carcass traits and reproductive efficiency in Caracu cattle? 是否有可能在不影响胴体性状和繁殖效率的情况下选择体重?
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-17 DOI: 10.1007/s13353-025-00959-3
Viviane Andrade Ligori, Jessica Moraes Malheiros, Eula Regina Carrara, Pablo Dominguez-Castaño, João Barbosa da Silva Neto, Joslaine Noely Dos Santos Gonçalves Cyrillo, Maria Eugênia Zerlotti Mercadante, Lenira El Faro Zadra
{"title":"Is it possible to select body weight without compromising carcass traits and reproductive efficiency in Caracu cattle?","authors":"Viviane Andrade Ligori, Jessica Moraes Malheiros, Eula Regina Carrara, Pablo Dominguez-Castaño, João Barbosa da Silva Neto, Joslaine Noely Dos Santos Gonçalves Cyrillo, Maria Eugênia Zerlotti Mercadante, Lenira El Faro Zadra","doi":"10.1007/s13353-025-00959-3","DOIUrl":"https://doi.org/10.1007/s13353-025-00959-3","url":null,"abstract":"<p><p>The Caracu is a taurine breed adapted to Brazil's climatic conditions and has been selected for 40 + years for Body Weight (BW), maintaining performance records across multiple generations in its database. However, selecting young animals for BW can result in excessive growth, potentially impacting carcass and reproductive traits. This study aimed to estimate genetic correlations and, based on these estimates, evaluate how selection for BW (adjusted to 378 and 550 days of age for males and females, respectively) has influenced carcass traits and reproductive efficiency in this breed. The dataset contained records for BW (kg), Ribeye area (REA, cm<sup>2</sup>), Height-to-width ratio of the Longissimus dorsi muscle (HWR), Backfat thickness (BFT, mm), Rump fat thickness (RFT, mm), Yearly scrotal circumference (SC, cm), and Days to calving (DC, days) from animals born between 1966 and 2022. (Co)variance components were estimated by Bayesian inference using two-trait animal models. Analyses were conducted to estimate genetic parameters for pairs of traits, including BW with carcass traits (BW × REA, BW × HWR, BW × BFT, and BW × RFT) and BW with reproductive traits (BW × DC and BW × SC). Additionally, analyses were performed for pairwise combinations among carcass traits (REA × HWR, REA × BFT, REA × RFT, HWR × BFT, HWR × RFT, and RFT × BFT) and between reproductive traits (DC × SC). The relationship matrix included 4,783 animals, of which 829 were genotyped with the GGP Bovine 100 K SNP panel. Favorable genetic correlations (r<sub>g</sub>) were observed between BW and REA (0.51 ± 0.11), HWR (0.45 ± 0.17), SC (0.24 ± 0.13), and RFT (0.15 ± 0.21), with the latter being favorable but low. On the other hand, unfavorable genetic correlations were observed between BW and BFT (-0.07 ± 0.21), which was unfavorable but close to zero relationship, and between BW and DC (0.48 ± 0.15). The significance of carcass and reproductive traits is underscored by the favorable, r<sub>g</sub> between BW and the carcass traits REA (BW × REA) and HWR (BW × HWR), while a high, unfavorable r<sub>g</sub> was observed between BW and DC cows. These findings emphasize the importance of carefully balancing genetic selection to optimize growth, carcass quality, and adequate reproduction in Caracu cattle.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils. 南印度泰米尔人钙敏感受体遗传变异及其与CKD-MBD的关系
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-14 DOI: 10.1007/s13353-025-00955-7
G Priyadarshini, A Dhinesh, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Medha Rajappa
{"title":"Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils.","authors":"G Priyadarshini, A Dhinesh, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Medha Rajappa","doi":"10.1007/s13353-025-00955-7","DOIUrl":"https://doi.org/10.1007/s13353-025-00955-7","url":null,"abstract":"<p><p>The progressive degradation of the renal parenchyma and reduction of functional nephrons characterise chronic kidney disease (CKD). Disorders of bone mineral metabolism is one of the leading causes of morbidity and mortality in CKD. Calcium-sensing receptor (CASR) allows cells to detect changes in blood calcium levels and regulate its concentration. Hence, we aim to study the relationship between genetic variants of CASR and CKD and their relation with mineral bone disease (MBD). A total of 180 CKD patients and 180 controls were recruited. Bone mineral density of the lumbar spine, hip, and forearm was measured using a dual X-ray absorptiometry (DEXA) scan. Circulating levels of parathyroid hormone (PTH) were measured by ELISA. Genotyping was done by real-time quantitative PCR. A significant difference in the distribution of the GAG haplotype (rs7652589, rs1501899, rs1801725) was observed between CKD patients and controls. Participants with the GT genotype of rs1801725 had lower BMD in the forearm. The TT genotype of rs1801725 was associated with decreased serum calcium levels. A regression model indicated that the GT genotype of rs1801725 and AG and GG genotypes of rs7652589 were significant predictors of forearm BMD. GAG haplotype of CASR SNPs is linked to CKD risk in South Indian Tamils. GT genotype of rs1801725 and AG and GG genotype of rs7652589 are independent predictors of MBD in patients with CKD.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Pivotal role of biallelic frequency analysis in identifying copy number alterations using genome-wide methods in tumors with a high level of aneuploidy. 双等位基因频率分析在高水平非整倍性肿瘤中使用全基因组方法识别拷贝数改变的关键作用。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-04 DOI: 10.1007/s13353-025-00951-x
Julia Rymuza, Renata Woroniecka, Beata Grygalewicz, Mateusz Bujko
{"title":"Pivotal role of biallelic frequency analysis in identifying copy number alterations using genome-wide methods in tumors with a high level of aneuploidy.","authors":"Julia Rymuza, Renata Woroniecka, Beata Grygalewicz, Mateusz Bujko","doi":"10.1007/s13353-025-00951-x","DOIUrl":"https://doi.org/10.1007/s13353-025-00951-x","url":null,"abstract":"<p><p>Chromosome number abnormalities is one of the hallmarks of cancer. DNA copy number alterations (CNA) are studied using various genome-wide methods. In our study, we investigated CNA in human pituitary tumors using three platforms CytoSNP-850 K microarrays, low-pass whole-genome sequencing (average × 7 coverage, LPWGS), and Infinium Methylation EPIC array. Virtual karyotypes based on each dataset were generated using open-source software packages for each sample. Concordant CNA profiles were found for most of tumor. Surprisingly, substantial discrepancies between results from SNP arrays and LPWGS/EPIC arrays were identified in 20% of tumors, for which discrimination of true karyotype was required. B-allelic frequency data from SNP arrays was crucial to adjust normal ploidy level as ultimately verified with FISH. The discrepancy between virtual karyotypes was more pronounced the more CNAs were found. When CNAs covered around half of genome, the level of normal/diploid copy number was incorrectly set with methods, based solely on signal intensity/read-counts coverage. To conclude, CNA analyses with methods such as LPWGS and methylation arrays in highly aneuploid tumors are prone to a bias from improper normal ploidy level setting. These methods are commonly used therefore, we aimed to aware the scientific community about this underestimated methodological problem.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
MiRNA signature analysis in LSCC gene expression profiles indicates hsa-miR-299-5p as a new tumor suppressor. LSCC基因表达谱中的MiRNA特征分析表明,hsa-miR-299-5p是一种新的肿瘤抑制因子。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-03-01 DOI: 10.1007/s13353-025-00942-y
Joanna Janiszewska, Julia Paczkowska, Magdalena Kostrzewska-Poczekaj, Anna Maria Schreiber, Katarzyna Kiwerska, Kinga Bednarek, Ewelina Kowal-Wiśniewska, Zofia Drozdowska, Małgorzata Wierzbicka, Małgorzata Jarmuż-Szymczak, Maciej Giefing
{"title":"MiRNA signature analysis in LSCC gene expression profiles indicates hsa-miR-299-5p as a new tumor suppressor.","authors":"Joanna Janiszewska, Julia Paczkowska, Magdalena Kostrzewska-Poczekaj, Anna Maria Schreiber, Katarzyna Kiwerska, Kinga Bednarek, Ewelina Kowal-Wiśniewska, Zofia Drozdowska, Małgorzata Wierzbicka, Małgorzata Jarmuż-Szymczak, Maciej Giefing","doi":"10.1007/s13353-025-00942-y","DOIUrl":"https://doi.org/10.1007/s13353-025-00942-y","url":null,"abstract":"<p><p>Given the importance of epigenetic mechanisms in the downregulation of tumor suppressor genes and the activation of oncogenes, herein we focused on microRNA silencing as a cause of oncogene activation in laryngeal squamous cell carcinoma (LSCC). In our study, we aimed at identifying regulatory microRNA signatures in LSCC mRNA profiles from our previous analysis. By this approach, we identified 14 overexpressed genes that shared a common regulatory hsa-miR-299-5p signature in LSCC samples. Subsequent RT-qPCR analysis confirmed the downregulation of hsa-miR-299-5p as well as the overexpression of 3 out of 14 genes: PATZ1, PURB, and TFAM in both LSCC cell lines and tumor samples compared to non-cancerous controls. Further, we have demonstrated a direct interaction between hsa-miR-299-5p and TFAM 3'UTR using dual luciferase assay. Importantly, we have shown decreased TFAM protein level after mimicry of hsa-miR-299-5p expression in three LSCC cell lines. Moreover, cell lines with restored activity of hsa-miR-299-5p demonstrated reduced viability compared to cell lines treated with the negative control. In conclusion, we point to hsa-miR-299-5p as a tumor-suppressive microRNA with the potential to regulate TFAM and consequently influence cell viability.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Identification of SNP markers associated with yield in winter oilseed rape (Brassica napus L.) hybrids. 油菜(Brassica napus L.)杂种产量相关SNP标记的鉴定。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-02-22 DOI: 10.1007/s13353-025-00953-9
Jan Bocianowski, Kamila Nowosad, Bartosz Kozak, Jakub Martofel
{"title":"Identification of SNP markers associated with yield in winter oilseed rape (Brassica napus L.) hybrids.","authors":"Jan Bocianowski, Kamila Nowosad, Bartosz Kozak, Jakub Martofel","doi":"10.1007/s13353-025-00953-9","DOIUrl":"https://doi.org/10.1007/s13353-025-00953-9","url":null,"abstract":"<p><p>Winter oilseed rape (Brassica napus), a crucial crop in temperate regions, is a key contributor to global vegetable oil production and an essential component of crop rotations due to its ability to improve soil structure and fertility. Enhancing its yield is vital for meeting the increasing demand for sustainable oil production, supporting food security, and optimizing biofuel production, while also ensuring the economic viability of agricultural systems in colder climates. The aim of the research was to determine association between SNP molecular markers and rapeseed yield. The plant material for this study consisted of 276 oilseed rape hybrids. The experiment was conducted in four localities: Borowo, Kończewice, Małyszyn, and Strzelce. The mean yield values ranged from 0.07 kg (for hybrid EH_20212 in Małyszyn) to 9.10 kg (for hybrid EH_20410 in Kończewice). The genotype matrix for 276 hybrids was constructed using marker data from the parental genotypes of inbred individuals (maternal and paternal lines). The matrix was coded as {- 1, 0, 1}, assuming an additive effect of the alleles. A total of 13,116 SNP markers were identified. For association mapping, 12,581 polymorphic markers were used. The results of the observation of the yield and sequencing were used for association mapping, which ultimately resulted in the selection of twenty-six molecular markers important (LOD > 5.0) simultaneously in all four localities.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review. CFAP53与胎儿全位反位相关的新型双等位基因突变的鉴定及文献综述。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-02-19 DOI: 10.1007/s13353-025-00950-y
Zhenglong Guo, Mengyao Tan, Hongjie Zhu, Guiyu Lou, Xiaoliang Xia, Wenke Yang, Yibing Lv, Jianmei Huang, Ruili Wang, Bingtao Hao, Shixiu Liao
{"title":"Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.","authors":"Zhenglong Guo, Mengyao Tan, Hongjie Zhu, Guiyu Lou, Xiaoliang Xia, Wenke Yang, Yibing Lv, Jianmei Huang, Ruili Wang, Bingtao Hao, Shixiu Liao","doi":"10.1007/s13353-025-00950-y","DOIUrl":"https://doi.org/10.1007/s13353-025-00950-y","url":null,"abstract":"<p><p>Visceral heterotaxy is a congenital malformation characterized by the abnormal arrangement of left-right axis of visceral organs. To date, several genes implicated in the regulation of laterality patterning have been identified. Notably, CFAP53, also referred to as CCDC11, is involved in the regulation of ciliary motility, and mutations in this gene have been linked to a rare condition of heterotaxy. In this study, whole-exome sequencing (WES) was utilized to analyze the genetic causes of a fetus in a Chinese family, presenting with situs inversus totalis. In silico predictions and functional studies were performed to evaluate the pathogenicity of the identified candidate gene variants. WES revealed two novel compound heterozygous mutations, c.777G > T and c.1013A > T, in the CFAP53 gene. Minigene experiments demonstrated that c.777G > T may result in splicing aberrations, thus leading to the production of truncated CFAP53 proteins. Additionally, in silico analyses indicate that c.1013A > T could disrupt the interaction between CFAP53 and its target protein, TTC25. We report the second documented case of fetus with situs inversus totalis due to biallelic loss-of-function variants in CFAP53. According to literature review, our findings provide a basis for the prenatal diagnosis and genetic counseling of CFAP53 mutation-associated visceral heterotaxy.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing. calr突变骨髓增生性肿瘤:来自下一代测序的见解。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-02-17 DOI: 10.1007/s13353-025-00947-7
Aleksandra Mroczkowska-Bękarciak, Agnieszka Szeremet, Olga Chyrko, Tomasz Wróbel
{"title":"CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.","authors":"Aleksandra Mroczkowska-Bękarciak, Agnieszka Szeremet, Olga Chyrko, Tomasz Wróbel","doi":"10.1007/s13353-025-00947-7","DOIUrl":"https://doi.org/10.1007/s13353-025-00947-7","url":null,"abstract":"<p><p>Essential thrombocythemia and primary myelofibrosis belong to the group of BCR::ABL1-negative myeloproliferative neoplasms. The presence of mutations in the JAK2, CALR, and MPL genes is essential for the diagnosis of myeloproliferative neoplasms. These mutations are called \"driver\" mutations. However, not only leading mutations have been identified in patients with MPN, but also more than half of individuals with essential thrombocythemia and more than 80% of patients with myelofibrosis have additional mutations. One technique that makes it possible to find prognostic, predictive, and diagnostic indicators is next-generation sequencing. Coexisting mutations are associated with reduced response to therapy, shortened overall survival, and a higher risk of transformation to acute myeloid leukemia or myelofibrosis. The study group consisted of 42 patients with the diagnosis of BCR::ABL1-negative MPN and the presence of a mutation in the CALR gene. The research material was archival, and DNA was obtained from patients' peripheral blood. Forty genes (17 genes, 23 hotspots) were sequenced using the commercial kit AmpliSeq for Illumina Myeloid Panel applying the targeted next-generation sequencing approach. For the study, the Illumina MiniSeq platform was used. The analysis of the obtained genetic results was carried out using bioinformatics tools and genetic databases. We studied 42 CALR-positive ET (n = 28) and MF (n = 14) patients with NGS panel testing. The median age at diagnosis of the entire patient series was 58 years. Additional mutations were detected in 48% of patients in the whole cohort. The most frequently mutated genes in the study population were ASXL1, TET2, and DNMT3A, which are largely associated with epigenetic regulatory mechanisms. NGS panel studies represent a breakthrough in the diagnostic and prognostic evaluation of MPNs with CALR mutations. The ability to perform such a comprehensive study provides valuable information on the biology of the disease and the selection of the appropriate treatment regimen. The use of new technologies shows that not only driver mutations have clinical significance for the patient. NGS has the potential to increase the precision and effectiveness of diagnosis and prognosis.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Utilization of doubled haploid breeding approach in introgression of QTL/gene(s) for parental line improvement of hybrid rice. 双单倍体育种方法在杂交水稻亲本改良QTL/基因导入中的应用。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-02-17 DOI: 10.1007/s13353-025-00948-6
Sudhansu Sekhar Bhuyan, Durga Prasad Barik, Byomkesh Dash, Prachitara Rout, Manjusha Chandravani, Swagatika Baral, Anindita Mishra, Ram Lakhan Verma, Jawahar Lal Katara, Parameswaran Chidambaranathan, B N Devanna, S R Prabhukarthikeyan, Sanghamitra Samantaray
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