Journal of Applied Genetics最新文献

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Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study. 粘多糖病IIIC型的发展和纵向神经认知功能:一个案例研究。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-09-01 Epub Date: 2024-12-30 DOI: 10.1007/s13353-024-00934-4
Paulina Anikiej-Wiczenbach, Monika Limanówka, Maria Mazurkiewicz-Bełdzińska, Karolina Pierzynowska, Grzegorz Węgrzyn, Jolanta Wierzba, Katarzyna Milska-Musa, Arkadiusz Mański
{"title":"Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.","authors":"Paulina Anikiej-Wiczenbach, Monika Limanówka, Maria Mazurkiewicz-Bełdzińska, Karolina Pierzynowska, Grzegorz Węgrzyn, Jolanta Wierzba, Katarzyna Milska-Musa, Arkadiusz Mański","doi":"10.1007/s13353-024-00934-4","DOIUrl":"10.1007/s13353-024-00934-4","url":null,"abstract":"<p><p>This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration. However, her clinical presentation has been milder compared to the expected progression based on her genetic profile and residual enzyme levels. The child's current overall intellectual functioning was at the level of moderate intellectual disability; however, her developmental age has remained at the level of 5;3 for the last 3 years. The neuropsychological assessment showed some moderate difficulties in the patient's functioning, and brain magnetic resonance imaging showed no abnormalities. The results revealed that the child maintains the majority of her cognitive skills at a stable level, except for a marked decline in working memory. The study highlights the complexity and variability in the progression of MPS IIIC, emphasizing the need for early diagnosis, regular monitoring, and a multidisciplinary approach. This case highlights the need to consider individual variability in MPS IIIC progression, even when genetic and biochemical markers suggest a more severe course.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"647-652"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909563","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
Gene therapy as an innovative approach to the treatment of hemophilia B-a review. 基因治疗作为治疗血友病的一种创新方法综述。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-09-01 Epub Date: 2025-04-03 DOI: 10.1007/s13353-025-00952-w
Kinga Wróblewska, Dominika Bieszczad, Magdalena Popławska, Karolina Joanna Ziętara, Monika Zajączkowska, Agata Filip
{"title":"Gene therapy as an innovative approach to the treatment of hemophilia B-a review.","authors":"Kinga Wróblewska, Dominika Bieszczad, Magdalena Popławska, Karolina Joanna Ziętara, Monika Zajączkowska, Agata Filip","doi":"10.1007/s13353-025-00952-w","DOIUrl":"10.1007/s13353-025-00952-w","url":null,"abstract":"<p><p>Hemophilia B is a disease that affects the human coagulation system, causing the absence or deficiency of coagulation factor IX, which may manifest itself in uncontrolled bleeding that is life-threatening to patients. Due to its inheritance, the disease more often affects men, and the severity of symptoms directly correlates with the concentration of the missing factor IX; hence, the aim of therapy is to maintain it at a level that allows for sufficient hemostasis. The basic model of treatment offered to patients is based on primary prevention with coagulation factor IX with a prolonged half-life, which, however, does not solve the numerous problems faced by patients. An innovative proposal that, despite initial concerns, is becoming more and more popular every day is the recently approved genetic therapy in Europe, which uses viral vectors to transfer the correct gene that encodes coagulation factor IX. The introduction of a recombinant gene in place of its defective counterpart seems to be a promising solution and the beginning of a new era in which genetic therapies have a chance to develop their full potential and replace existing therapeutic regimens.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"569-577"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12367881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772004","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}
引用次数: 0
Transcriptomic analysis of inhibitory effects of isothiazolone antimicrobial agents on Aspergillus amstelodami ZR. 异噻唑酮类抗菌剂对阿斯洛达米曲霉抑制作用的转录组学分析。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-09-01 Epub Date: 2025-04-30 DOI: 10.1007/s13353-025-00969-1
Junyu Tang, Qizhao Liang, Rui Zhang, Xiaoping Huang
{"title":"Transcriptomic analysis of inhibitory effects of isothiazolone antimicrobial agents on Aspergillus amstelodami ZR.","authors":"Junyu Tang, Qizhao Liang, Rui Zhang, Xiaoping Huang","doi":"10.1007/s13353-025-00969-1","DOIUrl":"10.1007/s13353-025-00969-1","url":null,"abstract":"<p><p>The preservation of marine specimens requires effective methods to ensure research accuracy and ecological sustainability. However, conventional preservatives (e.g., formaldehyde) pose environmental and health risks due to their toxicity. In this study, we isolated Aspergillus amstelodami from the surface of Oreochromis mossambicus specimens and evaluated the antifungal potential of 1,2-benzoisothiazolin-3-one and Kathon. Both agents exhibited strong inhibitory effects on fungal growth, as evidenced by clear inhibition zones. Transcriptomic analysis revealed: (1) upregulation of detoxification-related genes, including cytochrome P450-mediated xenobiotic/drug metabolism, ABC transporters, and two-component systems, and (2) downregulation of ribosome biogenesis genes, impairing protein synthesis in Aspergillus amstelodami. In conclusion, this study provides novel insights into the molecular antifungal mechanisms of isothiazolone antimicrobial agents in combating contamination of marine biological specimens caused by Aspergillus amstelodami.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"737-751"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010514","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
A 280 bp SINE insertion within the pig PLA2G16 could potentially modify gene expression through integration with its transcript. 在猪PLA2G16中插入280 bp的SINE可能通过整合其转录物来修饰基因表达。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-09-01 Epub Date: 2025-01-02 DOI: 10.1007/s13353-024-00933-5
Cai Chen, Mengli Wang, Yao Zheng, Ziyan Liu, Phiri Azele, Ahmed A Saleh, Xiaoyan Wang, Chengyi Song
{"title":"A 280 bp SINE insertion within the pig PLA2G16 could potentially modify gene expression through integration with its transcript.","authors":"Cai Chen, Mengli Wang, Yao Zheng, Ziyan Liu, Phiri Azele, Ahmed A Saleh, Xiaoyan Wang, Chengyi Song","doi":"10.1007/s13353-024-00933-5","DOIUrl":"10.1007/s13353-024-00933-5","url":null,"abstract":"<p><p>In our previous study, we identified a Short Interspersed Nuclear Element Retrotransposon Insertion Polymorphism (SINE-RIP) within the 3' untranslated region (3'UTR) of the Phospholipase A2 Group XVI (PLA2G16) gene, which is essential in lipid metabolism. In this study, we confirmed the presence of this 280 bp SINE insertion and examined its distribution across ten distinct pig breeds using PCR and sequencing. Subsequently, RT-PCR was employed to determine its potential for co-transcription. Finally, qPCR analysis was performed to evaluate the insertion's effect on PLA2G16 expression. The results indicated significant polymorphism at this site among different breeds. The SINE insertion can co-transcribe with PLA2G16 and shows a tissue-specific relationship with its expression in backfat and liver. Specifically, in Sujiang and Mi pigs, individuals homozygous for the SINE insertion (SINE<sup>+/+</sup>) demonstrated significantly lower PLA2G16 expression (p < 0.01) in backfat compared to those without the insertion (SINE<sup>-/-</sup>). Conversely, in Sujiang pigs, SINE<sup>+/+</sup> individuals exhibited significantly higher expression (p < 0.05) in the liver compared to SINE<sup>-/-</sup> counterparts. These findings suggest that the SINE insertion in the 3'UTR of PLA2G16 can fuse with the target gene, forming a new transcript that may affect gene expression levels in a tissue-specific manner.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"689-696"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914852","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
Association of the BoLA-DRB3*12:01 allele with resistance to bovine leukosis virus infection in Crioula Lageana cattle. BoLA-DRB3*12:01等位基因与拉吉纳Crioula Lageana牛抗牛白血病病毒感染的关系
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-27 DOI: 10.1007/s13353-025-01003-0
Graziela Vieira Fonteque, Mariana da Silva Casa, Gianlucca Simão Nadal Ribeiro, Zigomar da Silva, Carla Ivane Ganz Vogel, Joandes Henrique Fonteque, Ubirajara Maciel da Costa, Guillermo Giovambattista, Shin-Nosuke Takeshima, Luiz Claudio Miletti
{"title":"Association of the BoLA-DRB3*12:01 allele with resistance to bovine leukosis virus infection in Crioula Lageana cattle.","authors":"Graziela Vieira Fonteque, Mariana da Silva Casa, Gianlucca Simão Nadal Ribeiro, Zigomar da Silva, Carla Ivane Ganz Vogel, Joandes Henrique Fonteque, Ubirajara Maciel da Costa, Guillermo Giovambattista, Shin-Nosuke Takeshima, Luiz Claudio Miletti","doi":"10.1007/s13353-025-01003-0","DOIUrl":"https://doi.org/10.1007/s13353-025-01003-0","url":null,"abstract":"<p><p>Enzootic bovine leukosis (EBL) caused by the bovine leukosis virus (BLV) disturbs the immune response in bovines, leading to severe economic losses, with a possible impact on public health. EBL has no treatment or vaccine available, making the identification of genetic polymorphisms related to BLV resistance in locally adapted breeds like Crioula Lageana cattle valuable perspectives. This study aims to determine the presence of the BoLA-DRB3 alleles associated with susceptibility or resistance to BLV in Crioula Lageana cattle. For that, 208 Crioula Lageana bovines, spanning various ages, categories, and sexes, were subjected to blood sampling for DNA extraction for genetic characterization. The PCR targeted the 440-bp fragment of the env gene of the BLV and 284-bp for the alleles of the BoLA-DRB3 gene. The alleles were identified using Sanger sequencing, and the allele amount and frequency were determined by direct counting. For the determination of resistance or susceptibility, firstly the association between each allele and infection by BLV was determined using the chi-square test (p < 0.05), and then it was followed by an odds ratio analysis. The occurrence of BLV was 38.46% (80/208). The DRB3*12:01 allele was associated with resistance to BLV infection (p = 0.035, O.R. = 0.000. The presence of alleles linked to resistance to disease incidence highlights the potential to enhance genetic approaches in formulating management and control strategies for EBL in diverse cattle populations, with potential implications for livestock production, food safety, and public health.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954970","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
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene. 由senataxin基因的大规模缺失引起的共济失调和动眼肌失用症。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-20 DOI: 10.1007/s13353-025-01001-2
Joanna M Rusecka, Biruta Kierdaszuk, Iwona Stępniak, Małgorzata Rydzanicz, Piotr Stawiński, Tomasz Gambin, Damian Loska, Magdalena M Kacprzak, Magdalena Kaliszewska, Dorota Piekutowska-Abramczuk, Anna M Kamińska, Ewa Pronicka, Ewa Bartnik, Anna Kostera-Pruszczyk, Rafał Płoski, Agnieszka Sobczyńska-Tomaszewska, Katarzyna Tońska
{"title":"Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.","authors":"Joanna M Rusecka, Biruta Kierdaszuk, Iwona Stępniak, Małgorzata Rydzanicz, Piotr Stawiński, Tomasz Gambin, Damian Loska, Magdalena M Kacprzak, Magdalena Kaliszewska, Dorota Piekutowska-Abramczuk, Anna M Kamińska, Ewa Pronicka, Ewa Bartnik, Anna Kostera-Pruszczyk, Rafał Płoski, Agnieszka Sobczyńska-Tomaszewska, Katarzyna Tońska","doi":"10.1007/s13353-025-01001-2","DOIUrl":"10.1007/s13353-025-01001-2","url":null,"abstract":"<p><p>Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-binding factors playing an important role in transcription and DNA repair processes. Pathogenic SETX gene variants cause autosomal recessive spinocerebellar ataxia with axonal neuropathy (AOA2, MIM #606002) and autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4, MIM #602433), rare neurodegenerative disorders characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, combined upper and lower motor neuron symptoms, and increased serum alpha-fetoprotein (AFP; specific for AOA2). We report two cases of adult patients presenting with cerebellar syndrome, scanned speech, and exercise intolerance which started in the second/third decade of life and were followed by muscle weakness and impaired gait coordination. Whole exome sequencing (WES) was performed to analyze single nucleotide and copy number variants. A decreased coverage of a genomic region of around 16 kb on chromosome 9 (chr9:132,295,852-132,311,876), suggesting a deletion encompassing 5 exons of the SETX gene (exons 11-15, NM_015046.7) was observed. This homozygous SETX (9q34.13) deletion leads to a frame shift and consequently truncation of the helicase domain in the protein. Loss-of-function variants in the SETX gene are known to be pathogenic. Statistical analysis of NGS data from the Polish population identified a few heterozygous carriers, suggesting its region-specific origin.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882846","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
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B. 导致1B型肢带肌营养不良的典型剪接变异的体细胞和生发嵌合。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-16 DOI: 10.1007/s13353-025-01002-1
Guangyu Wang, Yaru Wang, Dandan Zhao, Chuanzhu Yan, Pengfei Lin
{"title":"Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.","authors":"Guangyu Wang, Yaru Wang, Dandan Zhao, Chuanzhu Yan, Pengfei Lin","doi":"10.1007/s13353-025-01002-1","DOIUrl":"https://doi.org/10.1007/s13353-025-01002-1","url":null,"abstract":"<p><p>Limb-girdle muscular dystrophy type 1B is one of several muscular dystrophies caused by pathogenic variants in the LMNA gene. In this study, we investigated the clinical, pathological, and genetic findings of an LGMD1B family. Genetic sequencing identified the proband and her younger brother both carried the canonical splicing c.513 + 1G > A variant in the LMNA gene. The variant was absent in the proband's mother, and a certain percentage of the LMNA variant was identified in the venous blood, urine, and semen sample of the proband's father by pyrophosphate sequencing. Further cDNA analysis demonstrated that the canonical splicing c.513 + 1G > A variant in intron 2 induced retention of the first 45 bp of intron 2, resulting in an in-frame insertion of 15 amino acids. Our study directly confirmed the presence of somatic and germinal mosaicism in the LGMD1B family and the pathogenicity of the canonical splicing variant in the LMNA gene.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859203","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
Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome. 波兰小脑综合征患者RFC1基因内含子重复扩增的患病率
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-13 DOI: 10.1007/s13353-025-01000-3
Tomczuk Filip, Ziora-Jakutowicz Karolina, Dominik Natalia, Houlden Henry, Cortese Andrea, Rutkowska Karolina, Pollak Agnieszka, Ploski Rafal, Janik Piotr, Elert-Dobkowska Ewelina, Sulek Anna
{"title":"Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.","authors":"Tomczuk Filip, Ziora-Jakutowicz Karolina, Dominik Natalia, Houlden Henry, Cortese Andrea, Rutkowska Karolina, Pollak Agnieszka, Ploski Rafal, Janik Piotr, Elert-Dobkowska Ewelina, Sulek Anna","doi":"10.1007/s13353-025-01000-3","DOIUrl":"https://doi.org/10.1007/s13353-025-01000-3","url":null,"abstract":"<p><p>Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative ataxic disorder, which has been associated with intronic biallelic repeat expansions in the RFC1 gene. Our objective was to assess retrospectively the prevalence of CANVAS in Polish population. We screened 2523 Polish patients in whom other repeat expansions were excluded. To determine the repeat expansions in the RFC1 gene in patients, we performed RFC1-flanking PCR and repeat primed PCR (RP-PCR) and to measure the size of the expansion we used Southern blotting and optical genome mapping to compare the results. We have observed the biallelic pathogenic motif/unit AAGGG expansions in 4.6% and expansions of non-pathogenic motifs AAAAG, AAAGG in 25% patients of our studied population. This is the first large-scale cohort study that confirms the relatively frequent occurrence of the CANVAS in Polish population. To increase the current diagnostics of late-onset ataxias within an unexplained molecular background, we suggest involving the RFC1 repeat expansions analysis to the routine diagnostic workflow.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835139","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
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss. NGS测序揭示了波兰一组孤立的非dfnb1听力损失患者听力损失的原因。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-13 DOI: 10.1007/s13353-025-00991-3
Katarzyna Niepokój, Agnieszka Magdalena Rygiel, Katarzyna Wertheim-Tysarowska, Justyna Sawicka, Barbara Dorożko, Alicja Grabarczyk, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Jakub Klapecki, Artur Barczyk, Paweł Własienko, Piotr Jurczak, Aneta Lebiedzińska, Robert Śmigiel, Aleksandra Jakubiak, Jolanta Wierzba, Ewa Kaczorowska, Aleksandra Pietrzyk, Grażyna Sorbaj-Sucharska, Janusz Limon, Jerzy Bal
{"title":"NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.","authors":"Katarzyna Niepokój, Agnieszka Magdalena Rygiel, Katarzyna Wertheim-Tysarowska, Justyna Sawicka, Barbara Dorożko, Alicja Grabarczyk, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Jakub Klapecki, Artur Barczyk, Paweł Własienko, Piotr Jurczak, Aneta Lebiedzińska, Robert Śmigiel, Aleksandra Jakubiak, Jolanta Wierzba, Ewa Kaczorowska, Aleksandra Pietrzyk, Grażyna Sorbaj-Sucharska, Janusz Limon, Jerzy Bal","doi":"10.1007/s13353-025-00991-3","DOIUrl":"https://doi.org/10.1007/s13353-025-00991-3","url":null,"abstract":"<p><p>The etiology of hearing loss (HL) is heterogeneous. It is estimated that 50-60% of the cases have a genetic background, with the other part being environmental. Isolated HL is responsible for nearly two-thirds of congenital cases, and the remaining part accounts for syndromic forms (SHL). The study aim was to examine the molecular basis of HL in 48 Polish patients with isolated, non-DFNB1 hearing loss using the targeted next-generation sequencing technique (NGS). The molecular cause of the HL was defined in 39.6% (19/48) of patients. In thirteen genes, we identified causative variants, including six novel ones: p.Gly1326Val (STRC), p.Pro104ThrfsTer2 (MYO6), p.Tyr186Ter (GATA3), p.Ile1584SerfsTer12 (MYO15A), p.Pro559Leu, and p.Glu542del (CDH23). The pathogenic status of novel variants was assessed by using bioinformatic tools and the ACMG recommendations. The most frequent genetic variants were the STRC gene deletions and point variants in Usher syndrome genes. For 36.8% of patients, the molecular diagnosis suggested SHL (Deafness-Infertility Syndrome (DIS), Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR), Usher, Perrault and Waardenburg syndromes). The obtained results confirmed the heterogeneity of the molecular basis of HL in Polish patients and the usefulness of the NGS technique as a diagnostic tool.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835138","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
Genome-wide association study uncovers the genetic loci for yield-related traits in waxy rice. 全基因组关联研究揭示了糯稻产量相关性状的遗传位点。
IF 1.9 3区 生物学
Journal of Applied Genetics Pub Date : 2025-08-11 DOI: 10.1007/s13353-025-00996-y
Yunyan Fei, Zhenghai Mo
{"title":"Genome-wide association study uncovers the genetic loci for yield-related traits in waxy rice.","authors":"Yunyan Fei, Zhenghai Mo","doi":"10.1007/s13353-025-00996-y","DOIUrl":"https://doi.org/10.1007/s13353-025-00996-y","url":null,"abstract":"<p><p>Improving yield potential is a critical goal for breeders; however, yield-related loci are still less understood in waxy rice, which seriously limited the precise development of high-yield cultivars. Here, we investigated six yield-related traits in a collection of 109 cultivated waxy rice accessions over two seasons and perform genome-wide association study using 1.81 million single nucleotide polymorphisms (SNPs) to elucidate the genetic basis underlying grain yield. Our analysis identified a total of 28 significant quantitative trait loci (QTLs), explaining 0.71-38.46% of phenotype variance. Of these, 17 was previously reported or contained genes known to govern the associated traits, while the remaining 11 appear to be novel alleles. Within the 28 QTLs, 379 residing genes were identified, and candidate yield-related genes in close proximity to the significant SNPs were extracted for haplotype analysis. The results showed that the genetic variations in Os09g0375700, Os09g0396300, and Os03g0609500 were highly associated with variations in thousand grain weight or panicle number. Our results dissected the possible genetic determinants of waxy rice yield and will be conducive to breed new cultivars with high yield in the future.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144816712","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}
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