Cytogenetic and Genome Research最新文献_第10页

Paper-Based Vertical Flow Immunoassay for the Point-of-Care Multiplex Detection of Radiation Dosimetry Genes. 基于纸张的垂直流免疫测定用于辐射剂量测定基因的护理点多重检测。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-06-27 DOI: 10.1159/000531702

Jerome Lacombe, Alexander J Summers, Ashkan Khanishayan, Yasaman Khorsandian, Isabella Hacey, Wyatt Blackson, Frederic Zenhausern

{"title":"Paper-Based Vertical Flow Immunoassay for the Point-of-Care Multiplex Detection of Radiation Dosimetry Genes.","authors":"Jerome Lacombe, Alexander J Summers, Ashkan Khanishayan, Yasaman Khorsandian, Isabella Hacey, Wyatt Blackson, Frederic Zenhausern","doi":"10.1159/000531702","DOIUrl":"10.1159/000531702","url":null,"abstract":"In a nuclear or radiological incident, first responders must quickly and accurately measure radiation exposure among civilians as medical countermeasures are radiation dose-dependent and time-sensitive. Although several approaches have been explored to measure absorbed radiation dose, there is an important need to develop point-of-care (POC) bioassay devices that can be used immediately to triage thousands of individuals potentially exposed to radiation. Here we present a proof-of-concept study showing the use of a paper-based vertical flow immunoassay (VFI) to detect radiation dosimetry genes. Using labeled primers during amplification and a multiplex membrane, our results showed that the nucleic acid VFI can simultaneously detect two biodosimetry genes, CDKN1A and DDB2, as well as one housekeeping gene MRPS5. The assay demonstrated good linearity and precision with an inter- and intra-assay coefficient of variance <20% and <10%, respectively. Moreover, the assay showed its ability to discriminate non-irradiated controls (0 Gy) from irradiated samples (1 + 2 Gy) with an overall sensitivity of 62.5% and specificity of 100% (AUC = 0.8672, 95% CI: 0.723-1.000; p = 0.004). Interestingly, the gene combination also showed a dose-dependent response for 0, 1, and 2 Gy, similar to data obtained by real-time PCR benchmark. These preliminary results suggest that a VFI platform can be used to detect simultaneously multiple genes that can be then quantified, thus offering a new approach for a POC biodosimetry assay that could be rapidly deployed on-site to test a large population and help triage and medical management after radiological event.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"178-186"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10751381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9695919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Supernumerary B Chromosomes of Tetragonisca fiebrigi Share Repeat Content with Standard Chromosome Set of both T. fiebrigi and Tetragonisca angustula (Apidae: Meliponini). 费氏四目家兔多余B染色体与费氏四目家兔和鳗四目家兔标准染色体组重复序列相同。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-08-05 DOI: 10.1159/000533431

Marina Souza Cunha, Camila Moura Novaes, Jaqueline Amorim Pereira, Martinha Mapingala Capoco, Tânia Maria Fernandes-Salomão, Denilce Meneses Lopes

{"title":"Supernumerary B Chromosomes of Tetragonisca fiebrigi Share Repeat Content with Standard Chromosome Set of both T. fiebrigi and Tetragonisca angustula (Apidae: Meliponini).","authors":"Marina Souza Cunha, Camila Moura Novaes, Jaqueline Amorim Pereira, Martinha Mapingala Capoco, Tânia Maria Fernandes-Salomão, Denilce Meneses Lopes","doi":"10.1159/000533431","DOIUrl":"10.1159/000533431","url":null,"abstract":"The stingless bees Tetragonisca angustula and Tetragonisca fiebrigi are widely distributed in Brazil, and both are commonly known as \"jataí.\" Our goal was to investigate the possible origin of the B chromosomes in T. fiebrigi, a cytotaxonomic trait that differentiates T. fiebrigi from T. angustula. We analyzed diploid chromosome number (2n), B chromosome incidence, patterns of constitutive heterochromatin, and in situ localization of different repetitive DNA probes in T. angustula and T. fiebrigi. Both species displayed 2n = 34, with similar karyotype structures. One to three B chromosomes were observed in T. fiebrigi only. Constitutive heterochromatin was distributed on one arm of all chromosomes in both species, and T. fiebrigi B chromosomes were mainly heterochromatic with one euchromatic extremity. The (GA)15 and (CAA)10 microsatellite probes marked the euchromatic arms of all chromosomes in both species without marking the B chromosomes. The 18S ribosomal DNA (rDNA) probe marked 10 chromosomes in T. angustula and 6 A chromosomes in T. fiebrigi with an additional marking on 1B in individuals with 3B. The Tan-Bsp68I repetitive DNA probe marked the heterochromatic portion of all T. fiebrigi A and B chromosomes. This probe also marked the heterochromatic portion of all T. angustula chromosomes; therefore, both alternative hypotheses to the B chromosome origin are possible: (i) from the A chromosome complement of T. fiebrigi (intraspecific origin); or (ii) a by-product of genome reshuffling following the hybridization between T. fiebrigi and T. angustula (interspecific origin).","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"52-58"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9946580","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

Recurrent Mutations in Refractory/Relapsed Diffuse Large B-Cell Lymphoma by Targeted Gene Sequencing. 通过靶向基因测序研究难治性/复发性弥漫性大 B 细胞淋巴瘤的复发性突变。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-12-10 DOI: 10.1159/000535400

Aditi Sharma, Ashim Das, Amanjit Bal, Radhika Srinivasan, Pankaj Malhotra, Gaurav Prakash, Rajender Kumar

{"title":"Recurrent Mutations in Refractory/Relapsed Diffuse Large B-Cell Lymphoma by Targeted Gene Sequencing.","authors":"Aditi Sharma, Ashim Das, Amanjit Bal, Radhika Srinivasan, Pankaj Malhotra, Gaurav Prakash, Rajender Kumar","doi":"10.1159/000535400","DOIUrl":"10.1159/000535400","url":null,"abstract":"Introduction: Whole-genome sequencing of diffuse large B-cell lymphoma (DLBCL) has identified recurrent mutations involved in pathogenesis and potentially affecting response to therapy. In this pilot study, a targeted gene panel was created to identify mutations associated with relapse/refractoriness.Material and methods: A 14-gene targeted panel was designed to sequence thirteen patients who were in remission and 8 cases that had relapsed/refractory to treatment. A paired diagnostic biopsy and a relapse biopsy were sequenced to find genes repeatedly altered in relapse.Results: A total of 751 nonsynonymous and truncating mutations were identified. Truncated mutations in NOTCH1, TNFAIP3, and CD58 were associated with poor treatment outcomes. In cases that did not respond to treatment, a high number of mutations were found in the EZH2 gene, followed by the DNA-binding domain of TP53 and MYD88. Termination mutations in the intracellular domain of NOTCH were found in 75% of non-responsive cases. Co-occurrence of loss of function mutations of TNFAIP3 and missense mutations in MYD88 was associated with a non-responsive cohort.Discussion: The study highlights mutations associated with chemotherapeutic response in DLBCL with implications for initial diagnostic biopsy response prediction.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"279-289"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138800749","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

Retrospective Evaluation of Cytogenetic Effects Induced by Internal Radioiodine Exposure: A 27-Year Follow-Up Study. 回顾性评估体内放射性碘暴露引起的细胞遗传效应：27年跟踪研究

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-08-12 DOI: 10.1159/000533396

Gordon K Livingston, Terri L Ryan, Maria B Escalona, Alvis E Foster, Adayabalam S Balajee

{"title":"Retrospective Evaluation of Cytogenetic Effects Induced by Internal Radioiodine Exposure: A 27-Year Follow-Up Study.","authors":"Gordon K Livingston, Terri L Ryan, Maria B Escalona, Alvis E Foster, Adayabalam S Balajee","doi":"10.1159/000533396","DOIUrl":"10.1159/000533396","url":null,"abstract":"Radioiodine (131I) is widely used in the treatment of hyperthyroidism and as an effective ablative therapy for differentiated thyroid cancer. Radioiodine (131I) constitutes 90% of the currently used therapies in the field of nuclear medicine. Here, we report the cytogenetic findings of a long-term follow-up study of 27 years on a male patient who received two rounds of radioiodine treatment within a span of 26 months between 1992 and 1994 for his papillary thyroid cancer. A comprehensive cytogenetic follow-up study utilizing cytokinesis blocked micronucleus assay, dicentric chromosome assay, genome wide translocations and inversions was initiated on this patient since the first administration of radioiodine in 1992. Frequencies of micronuclei (0.006/cell) and dicentric chromosomes (0.008/cell) detected in the current study were grossly similar to that reported earlier in 2019. The mFISH analysis detected chromosome aberrations in 8.6% of the cells in the form of both unbalanced and balanced translocations. Additionally, a clonal translocation involving chromosomes 14p; 15q was observed in 2 of the 500 cells analyzed. Out of the 500 cells examined, one cell showed a complex translocation (involving chromosomes 9, 10, and 16) besides 5 other chromosome rearrangements. Collectively, our study indicates that the past radioiodine exposure results in long-lasting chromosome damage and that the persistence of translocations can be useful for both retrospective biodosimetry and for monitoring chromosome instability in the lymphocytes of radioiodine exposed individuals.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"154-162"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10362170","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

Erratum. 勘误。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-08-29 DOI: 10.1159/000533447

引用次数: 0

Insights on the Radiation-Induced Adaptive Response at the Cellular Level and Its Implications in Cancer Therapy. 对辐射诱导的细胞水平的适应性反应及其在癌症治疗中的意义的见解。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-10-31 DOI: 10.1159/000534500

Aishwarya Thathamangalam Ananthanarayanan, Venkateswarlu Raavi, Satish Srinivas Kondaveeti, Ilangovan Ramachandran, Venkatachalam Perumal

{"title":"Insights on the Radiation-Induced Adaptive Response at the Cellular Level and Its Implications in Cancer Therapy.","authors":"Aishwarya Thathamangalam Ananthanarayanan, Venkateswarlu Raavi, Satish Srinivas Kondaveeti, Ilangovan Ramachandran, Venkatachalam Perumal","doi":"10.1159/000534500","DOIUrl":"10.1159/000534500","url":null,"abstract":"Background: Development of resistance upon exposure to small doses of ionizing radiation followed by higher doses is known as radiation-induced adaptive response (RIAR). Traditionally, the induction of the RIAR phenomenon at the cellular level has been examined in cell lines, animal models, and epidemiological studies where people live in high natural background radiation.Summary: The primary intention of the earlier studies was to corroborate the existence of RIAR and the mechanism involved in mediating the response surveyed by exposure to a low dose of radiation (<500 mGy) as priming dose toward the radiation protection point of view. However, the investigation has shifted the focus to understand the relevance of this phenomenon at clinically relevant set-ups (high doses in the order of Gy) and can be exploited during radiotherapy as RIAR is considered a mechanism for the development of radioresistance. Although the knowledge of molecular mechanisms at the cellular level has evolved significantly in multi-fractionated radiotherapy regimes, its relevance in developing radioresistance at low doses remains elusive. The authors recapitulate the existing knowledge on RIAR at cellular levels, specifically after low-dose exposure as an adaptive dose, and discussed its potential implications in clinical radiotherapy outcomes.Key messages: Recent studies have contributed to understand the signaling molecules, pathways, and inhibitors to mitigate RIAR-mediated radiation resistance and persistent radio-tolerance at the cellular level. Monitoring the disease progression in tumor samples or liquid biopsies before, during, and after therapy with suitable biomarkers has been proposed as a strategy to translate the phenomena into clinical scenario.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"257-273"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421579","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

Epigenetic Clocks: In Aging-Related and Complex Diseases. 表观遗传学时钟：在与AGING相关和复杂的疾病中。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-10-28 DOI: 10.1159/000534561

Katia Margiotti, Francesca Monaco, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino

{"title":"Epigenetic Clocks: In Aging-Related and Complex Diseases.","authors":"Katia Margiotti, Francesca Monaco, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino","doi":"10.1159/000534561","DOIUrl":"10.1159/000534561","url":null,"abstract":"Background: There is evidence that complex diseases and mortality are associated with DNA methylation and age acceleration. Numerous epigenetic clocks, including Horvath, Hannum, DNA PhenoAge, DNA GrimAge, and Dunedin Pace of Aging Methylation, continue to be developed in this young scientific field. The most well-known epigenetic clocks are presented here, along with information about how they relate to chronic disease.Summary: We examined all the literature until January 2023, investigating associations between measures of age acceleration and complex and age-related diseases. We focused on the scientific literature and research that are most strongly associated with epigenetic clocks and that have shown promise as biomarkers for obesity, cardiovascular illness, type 2 diabetes, and neurodegenerative disease.Key messages: Understanding the complex interactions between accelerated epigenetic clocks and chronic diseases may have significant effects on both the early diagnosis of disease and health promotion. Additionally, there is a lot of interest in developing treatment plans that can delay the onset of illnesses or, at the very least, alter the underlying causes of such disorders.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"247-256"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71411119","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

Exploration of Multi-Gene DNA Barcode Markers to Reveal the Broad Genetic Diversity of Field Ticks (Acari: Ixodidae) in a Tropical Environment of Hainan Island, China. 利用多基因DNA条形码标记揭示海南岛热带地区野蜱(蜱螨:伊蚊科)广泛的遗传多样性。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-06-29 DOI: 10.1159/000531734

Yajun Lu, Yae Zhao, Li Hu, Wanyu Zhang, Yunyun Xie, Shi Cheng, Bin Zheng, Qianfeng Xia

{"title":"Exploration of Multi-Gene DNA Barcode Markers to Reveal the Broad Genetic Diversity of Field Ticks (Acari: Ixodidae) in a Tropical Environment of Hainan Island, China.","authors":"Yajun Lu, Yae Zhao, Li Hu, Wanyu Zhang, Yunyun Xie, Shi Cheng, Bin Zheng, Qianfeng Xia","doi":"10.1159/000531734","DOIUrl":"10.1159/000531734","url":null,"abstract":"Ticks are hematophagous arthropods and obligate ectoparasites of humans and other animals. This study focused on the molecular discrimination of ticks in the tropical environment of Hainan according to multi-gene DNA barcode markers with the expectation of accurately distinguishing species. A total of 420 ticks, including 49 adult ticks, 203 nymphal ticks, and 168 larval ticks, were collected in the field, and the 49 adult ticks were identified as Rhipicephalus turanicus, Dermacentor marginatus, and Haemaphysalis longicornis. The mitochondrial 16S rRNA, ribosomal 28S rRNA D2, and ribosomal internal transcribed spacer 2 (ITS2) regions were used as DNA barcode markers to discriminate species. According to basic local alignment search tool analysis against the GenBank database, 16S rRNA positively identified ticks in the Rhipicephalus, Dermacentor, and Haemaphysalis genera; the 28S rRNA D2 region identified ticks in the Rhipicephalus and Dermacentor genera; and ITS2 identified ticks as D. marginatus. Pairwise sequence comparisons based on these three regions were visualized with a Sequence Demarcation Tool matrix. Substitution saturation tests using data analysis and molecular biology and evolution revealed little substitution saturation (Iss < Iss.c, p < 0.05) in the 16S rRNA region for the Haemaphysalis genus; 28S rRNA D2 region for the Rhipicephalus, Dermacentor, and Haemaphysalis genera; and ITS2 region for the Rhipicephalus and Dermacentor genera. Distinctive sequences for which it is difficult to obtain good matches with the sequences available in GenBank exist in the ticks of Hainan. Future studies should obtain complementary sequences to refine and update the database for the molecular characterization of ticks.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"59-73"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9752193","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

Addenda to ISCN 2020. ISCN 2020附录。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-07-28 DOI: 10.1159/000533170

Ros Hastings, Jean McGowan-Jordan, Sarah Moore

引用次数: 0

Radiation Biodosimetry: Current Status and Future Initiatives. 辐射生物剂量学:现状和未来计划。

IF 1.7 4区生物学

Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-11-29 DOI: 10.1159/000535488

Adayabalam S Balajee, Helen C Turner, Ruth C Wilkins

引用次数: 0