Journal of Genetics最新文献_第5页

On the reversibility of RNA deamination versus RNA methylation: exploring the proximate and ultimate causes. 关于RNA脱氨与RNA甲基化的可逆性：探讨其直接和最终原因。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Yuange Duan, Qi Cao

引用次数: 0

THPO promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia. THPO启动子突变：先天性单核细胞血小板减少症的家族性研究。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Reyhaneh Dehghanzad, Roghayeh Rahbar Parvaneh, Maryam Jamshidifar, Zahra Khaffafpour, Roghayeh Rahimi Afzal, Sharareh Kamfar, Bibi Shahin Shamsian, Mohammad Keramatipour

{"title":"THPO promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia.","authors":"Reyhaneh Dehghanzad, Roghayeh Rahbar Parvaneh, Maryam Jamshidifar, Zahra Khaffafpour, Roghayeh Rahimi Afzal, Sharareh Kamfar, Bibi Shahin Shamsian, Mohammad Keramatipour","doi":"","DOIUrl":"","url":null,"abstract":"Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome, which is characterized by a severe thrombocytopenia at birth without predictive stigmata and by a risk for progression into aplastic anaemia and myeloid malignancy. While CAMT primarily arises from mutations in the MPL gene, recent discoveries have linked biallelic THPO mutations to some CAMT cases. In addition, loss of function monoallelic mutations in this gene have been identified as causing benign autosomal dominant thrombocytopenia. In this study, we report a case of CAMT linked to a homozygous mutation in the promoter region of THPO (c.-324C>T, NM_000460.4). computational analysis indicates that this mutation suppresses the binding of some essential transcription factors to the THPO promoter. Family segregation analysis shows a significant reduction in platelet counts among carriers of the mutation. Our patient received allogeneic haematopoietic stem cell transplantation (HSCT) from her HLA-matched sister (MSD), who carries the mutation. After allogeneic HSCT, the patient showed 100% full donor chimerism, but 1 year after HSCT, despite full donor chimerism, the patient did not complete recover from platelet count, and she has received romiplostim several times. Understanding the MPL-THPO pathway is vital for managing CAMT, emphasizing the importance of identifying and assessing patients' mutations for tailored treatment.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The famous 'unperson'. 著名的“非人”。

IF 1.2 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Partha P Majumder

引用次数: 0

Gonadal mosaicism and paradoxical phenotype in NEXMIF encephalopathy: a case report of two siblings. 性腺镶嵌和悖论表型在NEXMIF脑病：两个兄弟姐妹的病例报告。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Naik Adarsha, Haseena Sait

引用次数: 0

Understanding the prevalence of germline oncogenic biomarker variants across the Indian population. 了解生殖系致癌生物标志物变异在印度人群中的流行。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Aastha Vatsyayan, Rahul C Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Bani Jolly, Sridhar Sivasubbu, Vinod Scaria

{"title":"Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.","authors":"Aastha Vatsyayan, Rahul C Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Bani Jolly, Sridhar Sivasubbu, Vinod Scaria","doi":"","DOIUrl":"","url":null,"abstract":"Genomic biomarkers are essential aspects of personalized medicine. They offer an opportunity for early detection and appropriate intervention, thereby leading to improved patient outcomes and cost-effective treatment. However, different populations have varied genetic landscapes, and thus, may have unique biomarkers. Here we study the prevalence of mutation-specific oncogenic biomarkers in the Indian population and analyse their presence across disease cohorts. We annotate the IndiGen data obtained from whole genome sequencing of 1029 self-declared healthy Indian individuals with biomarker information obtained from the OncoKB knowledgebase, a repository of evidence-based information about somatic biomarkers and structural alterations in patient tumours. We further establish the utility of this study by analysing these biomarkers across GUaRDIAN, a nationwide multi-cohort database, and MUSTARD, a repository of mutation-specific therapies in cancer. In this study, we discovered 34 biomarker variants of therapeutic actionability across 16 genes linked to 23 unique drugs or drug combinations in 23 unique types of cancer. In all, we have found 52 biomarker variants with 172 different biomarker types including therapeutic, resistance, diagnostic, and prognostic. We establish that nearly 7% of the population were found to be carriers of at least one of the four evidence-based biomarkers. Finally, we also establish the prevalence of 42 biomarker variants across 23 genes in both AD and AR modes of inheritance. We have calculated the prevalence of cancer biomarkers of therapeutic, diagnostic and prognostic value in the globally underrepresented Indian population. The known biomarker landscape so established can be used for clinical advantage to improve patient care. Cancers without corresponding biomarker matches can also be further studied to discover biomarkers unique to Indian populations.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144642757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mitochondrial genome sequence of Hippichthys heptagonus Bleeker, 1849 (Syngnathiformes, Syngnathidae) and its phylogenetic placement. hipichthys heptagus Bleeker, 1849 （syngnathime, Syngnathidae）线粒体基因组序列及其系统发育定位。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Cheng-He Sun, Xiao-Die Chen, Chang-Hu Lu

引用次数: 0

Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways. 来自印度的非肥胖NAFLD患者的全外显子组数据分析揭示了与功能相关基因和途径上的新标记的关联。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Arnab Ghosh, Anamita Barik, Rajesh K Rai, Jeffrey D Wall, Abhijit Chowdhury, Parha P Majumder

{"title":"Analysis of whole-exome data of nonobese NAFLD patients from India reveals association with new markers on functionally relevant genes and pathways.","authors":"Arnab Ghosh, Anamita Barik, Rajesh K Rai, Jeffrey D Wall, Abhijit Chowdhury, Parha P Majumder","doi":"","DOIUrl":"","url":null,"abstract":"Nonalcoholic fatty liver disease (NAFLD) occurs in a significant number of nonobese individuals, especially in Asian populations. Many genetic loci are associated with NAFLD. However, no exome-wide analysis of polymorphism data to identify asso- ciations with NAFLD is available for nonobese individuals from Asia. We have sought to fill this gap. With informed consent, we selected individuals from a defined population in India and assessed their liver fat-graded per international recommendations, and their demo- graphic and anthropometric data were collected. A set of 153 individuals were identified with high-grade liver fat. For each of these fatty- liver individuals (cases), two controls of the same sex with no or little liver fat were selected, the age and BMI of each control not exceeding 5 years and 5 kg/m2, respectively, of the case. Whole-genome sequencing was done for each individual. For association analysis, we selected only nonsynonymous germline single-nucleotide polymorphisms (SNPs) in coding regions located on genes expressed in the liver. We removed SNPs and individuals with compromised quality and informativeness. We carried out association analysis in this high-quality data set and validated the results using a novel bootstrap procedure. On the basis of this high-stringency association analysis using exome- wideSNP data on 438 cases and controls, we identified 30 significant SNPs on 24 genes. Of these, 21 SNPs from 17 genes are hitherto unreported. We have determined that most of the significant SNPs are functionally relevant. Pathway analysis revealed that the genes on which these SNPs are located are involved in liver dysfunction.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

JAG1 overexpression partially rescues muscle function in a zebrafish model of duchenne muscular dystrophy. 在杜氏肌营养不良斑马鱼模型中，JAG1过表达可部分恢复肌肉功能。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Vishakha Nesari, Suresh Balakrishnan, Upendra Nongthomba

{"title":"JAG1 overexpression partially rescues muscle function in a zebrafish model of duchenne muscular dystrophy.","authors":"Vishakha Nesari, Suresh Balakrishnan, Upendra Nongthomba","doi":"","DOIUrl":"","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration and loss of function due to the absence of dystrophin. In this study, we utilized a zebrafish model with a dmd gene knockout to explore the therapeutic potential of JAG1 overexpression in mitigating DMD-associated muscle dysfunction. Dystrophic zebrafish larvae displayed significant impairments in muscle function, evidenced by reduced swimming abilities, decreased birefringence, and disrupted β-dystroglycan localization, indicative of structural degeneration. Overexpression of JAG1, achieved via plasmid injection, partially restored muscle function, as reflected by improvements in stride length and total swimming distance. However, the structural integrity of slow oxidative muscle fibers remained largely unaffected, with a functional decline from 4 to 8 days post-fertilization (dpf) being more indicative of disease progression than structural changes. These findings suggest that the rescue effect of JAG1 overexpression may not be due to the preservation of slow oxidative fibers but rather through a mechanism that reduces susceptibility to contraction-induced injury. Notably, our study faced limitations related to the control of JAG1 expression levels and tissue specificity. Our results highlight the complexity of DMD pathology, where muscle structure and function do not always correlate, emphasizing the need for refined functional assays to better assess therapeutic outcomes. By incorporating functional recovery assessments at 8-10 dpf, zebrafish models can serve as more predictive preclinical tools, potentially enhancing the translational relevance of findings and reducing risks for patients in clinical trials. This study investigates how increasing the levels of a protein called JAG1 can help improve muscle function in a zebrafish model of DMD. By showing partial recovery of muscle activity, the findings suggest new therapeutic strategies that could potentially slow disease progression and improve patient outcomes.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of tandem repeats in seven telomere-to-telomere primate genomes. 7个端粒-端粒灵长类基因组串联重复序列分析。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Anukrati Sharma, Divya Tej Sowpati

{"title":"Analysis of tandem repeats in seven telomere-to-telomere primate genomes.","authors":"Anukrati Sharma, Divya Tej Sowpati","doi":"","DOIUrl":"","url":null,"abstract":"Tandem repeats (TRs) are highly polymorphic low complexity regions present in all the genomes. The length variation in TRs, particularly that of short TRs (STRs), is associated with several cellular functions such as gene expression and genome organization. In humans, an abnormal expansion of a few STR loci is linked to neurodegenerative diseases. Despite their importance, limitations and gaps in reference genomes prohibit the comprehensive analysis of TRs. Recent advances in high-throughput sequencing technologies have enabled the generation of gapless, telomere-to-telomere (T2T) genomes of humans and other ape species. Here, we report the TR landscape of seven primate T2T genomes, including humans. Our analysis indicates that TRs of 1-100 nucleotide (nt) motifs cover 3.5-6.9% of large primate genomes, with the highest density observed in gorilla (69 kb per Mbp). Large motif size TRs are prevalent and contribute abundantly to higher-order repeats. As an example, we describe a species-specific 32 nt A/T rich motif that contributes to subtelomeric repeats. Finally, we present the motif decomposition and substructure of pentameric repeats in Y chromosomes of six ape species. Our work illutrates the dynamics of TRs in large genomes, and showcases the utility of complete genomes for better understanding the role of low complexity sequences.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel partial mRNA-derived duplication of the DMD gene identified in NGS carrier screening. 在NGS携带者筛选中发现的一种新的部分mrna衍生的DMD基因复制。

IF 1 4区生物学

Journal of Genetics Pub Date : 2025-01-01

Xue Zhang, Gang Wang, Yuan Wan, Yanling Dong, Daru Lu, Bo Tan

引用次数: 0