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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 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 Epub Date: 2023-10-28 DOI: 10.1159/000534561
Katia Margiotti, Francesca Monaco, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino

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.

有证据表明,复杂的疾病和死亡率与DNA甲基化(DNAm)和年龄加速有关。许多表观遗传学时钟,包括Horvath、Hannum、DNA PhenoAge、DNA GrimAge和DunedinPoAm,继续在这个年轻的科学领域发展。这里介绍了最著名的表观遗传学时钟,以及它们与慢性病的关系。我们检查了截至2023年1月的所有文献,调查了年龄加速指标与复杂和年龄相关疾病之间的关系。我们专注于与表观遗传学时钟最密切相关的科学文献和研究,这些文献和研究已显示出作为肥胖、心血管疾病、2型糖尿病和神经退行性疾病的生物标志物的前景。了解加速的表观遗传学时钟与慢性病之间的复杂相互作用可能对疾病的早期诊断和健康促进都有重大影响。此外,人们对制定治疗计划很感兴趣,这些计划可以延缓疾病的发作,或者至少可以改变这些疾病的根本原因。
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引用次数: 0
Erratum. 勘误。
IF 1.7 4区 生物学 Q4 CELL BIOLOGY Pub Date : 2023-01-01 Epub Date: 2023-08-29 DOI: 10.1159/000533447
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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 Q3 Biochemistry, Genetics and Molecular Biology 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

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.

蜱是食血节肢动物,专为人类和其他动物的体外寄生虫。本研究利用多基因DNA条形码标记对海南热带环境中蜱类进行分子识别,以期准确区分蜱种。野外共采集到蜱类420只,其中成蜱49只,稚蜱203只,幼虫168只,鉴定成蜱为图兰鼻头蜱、边缘皮蜱和长角血蜱。利用线粒体16S rRNA、核糖体28S rRNA D2和核糖体内部转录间隔2 (ITS2)区域作为DNA条形码标记进行物种区分。根据GenBank数据库的基本局部比对搜索工具分析,16S rRNA阳性鉴定了鼻头蜱属、革螨属和血蜱属的蜱;28S rRNA D2区可识别鼻头蜱属和革螨属蜱;ITS2鉴定蜱为边缘蜱。基于这三个区域的两两序列比较用序列划分工具矩阵可视化。利用数据分析和分子生物学和进化进行的取代饱和度测试显示,取代饱和度很小(Iss <c, p <血蜱属在16S rRNA区表达0.05);鼻头虫属、皮肤虫属和血蜱属的28S rRNA D2区域;鼻头属和皮螨属的ITS2区。海南蜱中存在难以与GenBank匹配的特殊序列。未来的研究应获得互补序列,以完善和更新蜱的分子特征数据库。
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引用次数: 0
Addenda to ISCN 2020. ISCN 2020附录。
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 Epub Date: 2023-07-28 DOI: 10.1159/000533170
Ros Hastings, Jean McGowan-Jordan, Sarah Moore

Since the publication of ISCN 2020, the ISCN Standing Committee have noted some clarification of the text and additional examples were needed. These addenda have already been published online (https://iscn.karger.com/) and this short report summarises the ISCN 2020 addenda for the benefit of participants. These addenda will be included in the release of the next version of ISCN.

自ISCN 2020出版以来,ISCN常设委员会注意到对案文进行了一些澄清,并需要额外的示例。这些增编已经在网上发布(https://iscn.karger.com/),本简短报告总结了ISCN 2020增编,以供参与者参考。这些增编将包括在下一个版本的ISCN发布中。
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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 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 Epub Date: 2023-11-29 DOI: 10.1159/000535488
Adayabalam S Balajee, Helen C Turner, Ruth C Wilkins
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引用次数: 0
Repetitive DNA Mapping in Five Genera of Tree Frogs (Amphibia: Anura) from the Atlantic Forest: New Highlights on Genomic Organization in Hylidae. 大西洋森林五属树蛙(两栖类:无尾目)的重复 DNA 图谱:Hylidae 基因组组织的新亮点。
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 Epub Date: 2024-02-16 DOI: 10.1159/000537875
Késsia Leite Souza, Silvana Melo, Marco Antônio Peixoto, Natália Martins Travenzoli, Renato Neves Feio, Jorge Abdala Dergam

Introduction: The tribes Cophomantini, Scinaxini, and Dendropsophini are anurans that belong to Hylidae, with wide distribution in tropical and subtropical regions around the world. The taxonomy and systematics of this family remain in a state of ongoing revision. Previous cytogenetic analyses of genera Boana, Bokermannohyla, Ololygon, Scinax, and Dendropsophus described some karyotypic characters such as conventional staining, C-banding and NORs, and FISH with specific probes.

Methods: This study describes for the first time the karyotypes of four species: Bokermannohyla ibitipoca, Ololygon luizotavioi, Dendropsophus bipunctatus, and Dendropsophus ruschii. Furthermore, we map CA(15) and CAT(10) microsatellite sites for the aforementioned species and six more species from the same genera for insight into the chromosomal evolution within the subfamily Hyalinae.

Results: B. ibitipoca and O. luizotavioi had 2n = 24 and karyotypic formulas 18m + 4sm + 2st and 8m + 12sm + 4st, while D. bipunctatus and D. ruschii showed 2n = 30 and karyotypic formulas 12m + 12sm + 4st + 2t and 10m + 10sm + 6st + 4t, respectively. The diploid numbers and karyotypic formulas revealed here follow the previously reported trend for Hylidae, except B. ibitipoca has a particularity of eight metacentric chromosomes, more than what is commonly found in species of this genus. The microsatellites probes CA(15) and CAT(10) had markings accumulated in blocks in the centromeric, pericentromeric, and terminal regions that were more specific for some species, as well as markings scattered along the chromosomes. We present a comprehensive review table of current data on cytogenetics of these genera.

Conclusion: Our findings showed that the karyotypes of the hylids studied here majority fit the postulated conserved diploid number (2n = 24) and morphological chromosome patterns, while the mapping of the microsatellites enabled us to detect differences between species that share similar chromosomal morphologies.

简介蟾蜍科(Cophomantini)、蟾蜍亚科(Schinaxini)和蟾蜍亚科(Dendropsophini)属于无尾目动物,广泛分布于世界各地的热带和亚热带地区。该科的分类学和系统学仍在不断修正之中。之前对 Boana、Bokermannohyla、Ololygon、Schinax 和 Dendropsophus 等属的细胞遗传学分析描述了一些核型特征,如常规染色、C-带和 NORs,以及使用特定探针的 FISH:本研究首次描述了 Bokermannohyla ibitipoca、Ololygon luizotavioi、Dendropsophus bipunctatus 和 Dendropsophus ruschii 四个物种的核型。此外,我们还绘制了上述物种和另外六个同属物种的 CA(15) 和 CAT(10) 微卫星位点图,以深入了解绣线菊亚科内的染色体进化情况:Bok. ibitipoca和O. luizotavioi的染色体为2n= 24,核型分别为18m+4sm+2st和8m+12sm+4st;D. bipunctatus和D. ruschii的染色体为2n= 30,核型分别为12m+12sm+4st+2t和10m+10sm+6st+4t。除了 Bok. ibitipoca 有 8 条偏心染色体外,其他物种的二倍体数目和核型公式与之前报道的 Hylidae 的趋势一致。微卫星探针 CA(15) 和 CAT(10) 的标记在中心染色单体、近中心染色单体和末端区域积聚成块,对某些物种更具特异性,同时标记也散布在染色体上。我们提交了一份关于这些种属细胞遗传学现有数据的综合综述表:我们的研究结果表明,本文所研究的杓鹬属的核型符合推测的保守的二倍体数目和染色体形态模式,而这些微卫星的图谱使我们能够发现染色体形态相似的物种之间的差异。
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引用次数: 0
Front & Back Matter 正面和背面事项
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-12-01 DOI: 10.1159/000528619
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引用次数: 0
Front & Back Matter 正面和背面
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-10-01 DOI: 10.1159/000527396
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引用次数: 0
Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia 急性髓细胞白血病9q染色体间质缺失的基因组学特征
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-06-08 DOI: 10.1159/000525010
Zhongxia Qi, K. Wen, Anita Ki, Sonam Prakash, S. Kogan, Jingwei Yu
Interstitial deletion in the long arm of chromosome 9 [del(9q)] is a fairly common cytogenetic finding associated with acute myeloid leukemia (AML), seen in approximately 2–5% of AML patients. However, the genomic features of the deletion remain largely unknown. Using chromosome analysis, single nucleotide polymorphism microarray, and next-generation sequencing, we characterized del(9q)s and other genomic alterations in 9 AML patients. We found several distinct features of the del(9q)s. The proximal breakpoints of the deletions are clustered within a 2.5-Mb region (chr9: 68,513,625–70,984,372; GRCh37) enriched with segmental duplications, which may represent a “hotspot” for genomic rearrangements. However, the distal breakpoints of the deletions vary significantly. In addition, the overall deleted region could be divided into a 14.4-Mb proximal constitutional region (chr9: 70,950,015–85,397,699; 9q21.11q21.32) and a 24.0-Mb distal oncogenic region (chr9: 85,397,700–109,427,261; 9q21.32q31.1). We further identified a 6.8-Mb common overlapped deletion region (CODR) in the distal region (chr9: 90,590,650–97,366,400). This CODR carries multiple genes that are reportedly involved in cancer pathogenesis. The prognostic value of the del(9q) in AML apparently depends on additional genomic alterations in the patients.
9号染色体长臂间质缺失[del(9q)]是一种相当常见的与急性髓性白血病(AML)相关的细胞遗传学发现,约有2-5%的AML患者出现这种情况。然而,缺失的基因组特征在很大程度上仍然未知。利用染色体分析、单核苷酸多态性微阵列和下一代测序,我们对9名AML患者的del(9q)s和其他基因组变化进行了表征。我们发现了del(9q)s的几个明显特征。缺失的近端断点聚集在富含节段重复的2.5Mb区域内(chr9:68513625-70984372;GRCh37),这可能代表基因组重排的“热点”。然而,缺失的远端断点差异很大。此外,整个缺失区可分为14.4-Mb的近端组成区(chr9:70950015-85397699;9q21.11q21.32)和24.0-Mb的远端致癌区(chr9:85397700-109427261;9q21.32q31.1)。我们进一步在远端区确定了6.8-Mb的常见重叠缺失区(CODR)(chr9:90590650-97366400)。这种CODR携带多个基因,据报道这些基因参与了癌症的发病机制。del(9q)在AML中的预后价值显然取决于患者的额外基因组改变。
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引用次数: 0
Front & Back Matter 正面和背面事项
IF 1.7 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-06-01 DOI: 10.1159/000525365
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引用次数: 0
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Cytogenetic and Genome Research
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