Advanced genetics (Hoboken, N.J.)最新文献_第7页

The Risk-Reducing Effect of Aspirin in Lynch Syndrome Carriers: Development and Evaluation of an Educational Leaflet 阿司匹林在Lynch综合征携带者中的降低风险作用:教育单张的制作和评价

Advanced genetics (Hoboken, N.J.) Pub Date : 2022-03-07 DOI: 10.1002/ggn2.202100046

Rajneesh Kaur, Cassandra McDonald, Bettina Meiser, Finlay Macrae, Sian K Smith, Yoon Jung Kang, Michael Caruana, Gillian Mitchell

{"title":"The Risk-Reducing Effect of Aspirin in Lynch Syndrome Carriers: Development and Evaluation of an Educational Leaflet","authors":"Rajneesh Kaur, Cassandra McDonald, Bettina Meiser, Finlay Macrae, Sian K Smith, Yoon Jung Kang, Michael Caruana, Gillian Mitchell","doi":"10.1002/ggn2.202100046","DOIUrl":"10.1002/ggn2.202100046","url":null,"abstract":"Carriers of germline mutations in genes associated with Lynch syndrome are at increased risk for colorectal, endometrial, ovarian, and other cancers. There is evidence that daily consumption of aspirin may reduce cancer risk in these individuals. There is a need for educational resources to inform carriers of the risk-reducing effects of aspirin or to support decision-making. An educational leaflet describing the risks and benefits of using aspirin as risk-reducing medicine in carriers of Lynch-syndrome-related mutations is developed and pilot tested in 2017. Carriers are ascertained through a familial cancer clinic and surveyed using a mailed, self-administered questionnaire. The leaflet is highly rated for its content, clarity, length, relevance, and visual appeal by more than 70% of the participants. Most participants (91%) report “a lot” or “quite a bit” of improvement in perceived understanding in knowledge about who might benefit from taking aspirin, its benefits, how long to take it, the reduction in bowel cancer risk, and the optimal dosage. A few (14%) participants seek more information on the dosage of aspirin. This leaflet will be useful as an aid to facilitate discussion between patients and their health care professionals about the use of aspirin as a risk-reducing medication.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10498430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Single-Cell Transcriptome Identifies Drug-Resistance Signature and Immunosuppressive Microenvironment in Metastatic Small Cell Lung Cancer 单细胞转录组鉴定转移性小细胞肺癌的耐药特征和免疫抑制微环境

Advanced genetics (Hoboken, N.J.) Pub Date : 2022-03-04 DOI: 10.1002/ggn2.202100060

Jing Zhang, Haiping Zhang, Lele Zhang, Dianke Li, Mengfan Qi, Liping Zhang, Huansha Yu, Di Wang, Gening Jiang, Xujun Wang, Xianmin Zhu, Peng Zhang

{"title":"Single-Cell Transcriptome Identifies Drug-Resistance Signature and Immunosuppressive Microenvironment in Metastatic Small Cell Lung Cancer","authors":"Jing Zhang, Haiping Zhang, Lele Zhang, Dianke Li, Mengfan Qi, Liping Zhang, Huansha Yu, Di Wang, Gening Jiang, Xujun Wang, Xianmin Zhu, Peng Zhang","doi":"10.1002/ggn2.202100060","DOIUrl":"10.1002/ggn2.202100060","url":null,"abstract":"Small cell lung cancer (SCLC) is a deadly neuroendocrine malignancy with high metastasis. However, the heterogeneity of metastatic SCLC at the single-cell level remains elusive. The single-cell transcriptome of a total of 24 081 cells in metastatic lymph node samples from seven SCLC patients via endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is examined. Genomic alterations are also examined by whole exome sequencing (WES) and the immune infiltration between SCLC and non-SCLC (NSCLC) is compared using public single-cell RNA sequencing (scRNA-seq) data. It is identified that malignant cells in lymph-node metastatic SCLC have inter-patient and intra-tumor heterogeneity characterized by distinct ASCL1 and NEUROD1 expression patterns. High expression of genes such as FZD8 in WNT pathway is associated with drug resistance in malignant cells. Compared to NSCLC, SCLC harbors a unique immunosuppressive tumor microenvironment. Malignant cells exhibit a pattern of attenuated MHC-I antigen presentation-related gene expression, which is associated with relatively low proportion of exhausted T cells. Natural killer (NK) cells display impaired antitumor function with high expression of TGFBR2. This work characterizes the inter-patient and intra-tumor heterogeneity of metastatic SCLC and uncovers the exhaustion signatures in NK cells, which may pave the way for novel treatments for SCLC including immune checkpoint blockade-based immunotherapy.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10498434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Double-Edged Role of Resource Competition in Gene Expression Noise and Control 资源竞争在基因表达噪声与控制中的双刃剑作用

Advanced genetics (Hoboken, N.J.) Pub Date : 2022-02-08 DOI: 10.1002/ggn2.202100050

Hanah Goetz, Austin Stone, Rong Zhang, Ying-Cheng Lai, Xiao-Jun Tian

{"title":"Double-Edged Role of Resource Competition in Gene Expression Noise and Control","authors":"Hanah Goetz, Austin Stone, Rong Zhang, Ying-Cheng Lai, Xiao-Jun Tian","doi":"10.1002/ggn2.202100050","DOIUrl":"10.1002/ggn2.202100050","url":null,"abstract":"Despite extensive investigation demonstrating that resource competition can significantly alter the circuits’ deterministic behaviors, a fundamental issue is how resource competition contributes to the gene expression noise and how the noise can be controlled. Utilizing a two-gene circuit as a prototypical system, we uncover a surprising double-edged role of resource competition in gene expression noise: the competition decreases noise through a resource constraint but generates its own type of noise which we name as “resource competitive noise.” Utilization of orthogonal resources enables retaining the noise reduction conferred by resource constraint while removing the added resource competitive noise. The noise reduction effects are studied using three negative feedback controller types: negatively competitive regulation (NCR), local, and global controllers, each having four placement architectures in the protein biosynthesis pathway (mRNA or protein inhibition on transcription or translation). Our results show that both local and NCR controllers with mRNA-mediated inhibition are efficacious at reducing noise, with NCR controllers demonstrating a superior noise-reduction capability. We also find that combining negative feedback controllers with orthogonal resources can improve the local controllers. This work provides deep insights into the origin of stochasticity in gene circuits with resource competition and guidance for developing effective noise control strategies.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9390979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40626316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

In Vitro and In Vivo Analysis of Extracellular Vesicle-Mediated Metastasis Using a Bright, Red-Shifted Bioluminescent Reporter Protein 利用明亮的红移生物发光报告蛋白对细胞外囊泡介导的转移进行体内外分析

Advanced genetics (Hoboken, N.J.) Pub Date : 2022-01-19 DOI: 10.1002/ggn2.202100055

Gloria I. Perez, David Broadbent, Ahmed A. Zarea, Benedikt Dolgikh, Matthew P. Bernard, Alicia Withrow, Amelia McGill, Victoria Toomajian, Lukose K. Thampy, Jack Harkema, Joel R. Walker, Thomas A. Kirkland, Michael H. Bachmann, Jens Schmidt, Masamitsu Kanada

{"title":"In Vitro and In Vivo Analysis of Extracellular Vesicle-Mediated Metastasis Using a Bright, Red-Shifted Bioluminescent Reporter Protein","authors":"Gloria I. Perez, David Broadbent, Ahmed A. Zarea, Benedikt Dolgikh, Matthew P. Bernard, Alicia Withrow, Amelia McGill, Victoria Toomajian, Lukose K. Thampy, Jack Harkema, Joel R. Walker, Thomas A. Kirkland, Michael H. Bachmann, Jens Schmidt, Masamitsu Kanada","doi":"10.1002/ggn2.202100055","DOIUrl":"10.1002/ggn2.202100055","url":null,"abstract":"Cancer cells produce heterogeneous extracellular vesicles (EVs) as mediators of intercellular communication. This study focuses on a novel method to image EV subtypes and their biodistribution in vivo. A red-shifted bioluminescence resonance energy transfer (BRET) EV reporter is developed, called PalmReNL, which allows for highly sensitive EV tracking in vitro and in vivo. PalmReNL enables the authors to study the common surface molecules across EV subtypes that determine EV organotropism and their functional differences in cancer progression. Regardless of injection routes, whether retro-orbital or intraperitoneal, PalmReNL positive EVs, isolated from murine mammary carcinoma cells, localized to the lungs. The early appearance of metastatic foci in the lungs of mammary tumor-bearing mice following multiple intraperitoneal injections of the medium and large EV (m/lEV)-enriched fraction derived from mammary carcinoma cells is demonstrated. In addition, the results presented here show that tumor cell-derived m/lEVs act on distant tissues through upregulating LC3 expression within the lung.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10857981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Masthead: (Advanced Genetics 4/12) 报头:(Advanced Genetics 4/12)

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-22 DOI: 10.1002/ggn2.202170042

引用次数: 0

A phylogenetic analysis of the wild Tulipa species (Liliaceae) of Kosovo based on plastid and nuclear DNA sequence 科索沃野生郁金香(百合科)的质体和核DNA序列系统发育分析

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-22 DOI: 10.1002/ggn2.202100057

Avni Hajdari, Bledar Pulaj, Corinna Schmiderer, Xhavit Mala, Brett Wilson, Kimete Lluga-Rizani, Behxhet Mustafa

引用次数: 0

(Advanced Genetics 4/12) (Advanced Genetics 4/12)

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-22 DOI: 10.1002/ggn2.202170041

引用次数: 0

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease 支持原发性线粒体疾病临床研究中公平数据标准的社区共识指南

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-19 DOI: 10.1002/ggn2.202100047

Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob van Maanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk

{"title":"Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease","authors":"Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob van Maanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk","doi":"10.1002/ggn2.202100047","DOIUrl":"10.1002/ggn2.202100047","url":null,"abstract":"Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable biomarkers, and deficiencies in long-term natural history data sets remain substantial challenges in the increasingly active PMD therapeutic development space. Developing “FAIR” (findable, accessible, interoperable, reusable) data standards to make data sharable and building a more transparent community data sharing paradigm to access clinical research metadata are the first steps to address these challenges. This collaborative community effort describes the current landscape of PMD clinical research data resources available for sharing, obstacles, and opportunities, including ways to incentivize and encourage data sharing among diverse stakeholders. This work highlights the importance of, and challenges to, developing a unified system that enables clinical research structured data sharing and supports harmonized data deposition standards across clinical consortia and research groups. The goal of these efforts is to improve the efficiency and effectiveness of drug development and improve understanding of the natural history of PMD. This initiative aims to maximize the benefit for PMD patients, research, industry, and other stakeholders while acknowledging challenges related to differing needs and international policies on data privacy, security, management, and oversight.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10498531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

The Development of Mitochondrial Gene Editing Tools and Their Possible Roles in Crop Improvement for Future Agriculture 线粒体基因编辑工具的发展及其在未来农业作物改良中的可能作用

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-13 DOI: 10.1002/ggn2.202100019

Jinghua Yang, Xiaodong Yang, Tongbing Su, Zhongyuan Hu, Mingfang Zhang

{"title":"The Development of Mitochondrial Gene Editing Tools and Their Possible Roles in Crop Improvement for Future Agriculture","authors":"Jinghua Yang, Xiaodong Yang, Tongbing Su, Zhongyuan Hu, Mingfang Zhang","doi":"10.1002/ggn2.202100019","DOIUrl":"10.1002/ggn2.202100019","url":null,"abstract":"We are living in the era of genome editing. Nowadays, targeted editing of the plant nuclear DNA is prevalent in basic biological research and crop improvement since its first establishment a decade ago. However, achieving the same accomplishment for the plant mitochondrial genome has long been deemed impossible. Recently, the pioneer studies on editing plant mitogenome have been done using the mitochondria-targeted transcription activator-like effector nucleases (mitoTALENs) in rice, rapeseed, and Arabidopsis. It is well documented that mitochondria play essential roles in plant development and stress tolerance, particularly, in cytoplasmic male sterility widely used in production of hybrids. The success of mitochondrial genome editing enables studying the fundamentals of mitochondrial genome. Furthermore, mitochondrial RNA editing (mostly by nuclear-encoded pentatricopeptide repeat (PPR) proteins) in a sequence-specific manner can simultaneously change the production of translatable mitochondrial mRNA. Moreover, direct editing of the nuclear-encoding mitochondria-targeted factors required for plant mitochondrial genome dynamics and recombination may facilitate genetic manipulation of plant mitochondria. Here, the present state of knowledge on editing the plant mitochondrial genome is reviewed.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10564860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Transposable Element Populations Shed Light on the Evolutionary History of Wheat and the Complex Co-Evolution of Autonomous and Non-Autonomous Retrotransposons 转座因子群体揭示了小麦的进化史以及自主和非自主反转录转座子的复杂共同进化

Advanced genetics (Hoboken, N.J.) Pub Date : 2021-12-09 DOI: 10.1002/ggn2.202100022

Thomas Wicker, Christoph Stritt, Alexandros G. Sotiropoulos, Manuel Poretti, Curtis Pozniak, Sean Walkowiak, Heidrun Gundlach, Nils Stein

{"title":"Transposable Element Populations Shed Light on the Evolutionary History of Wheat and the Complex Co-Evolution of Autonomous and Non-Autonomous Retrotransposons","authors":"Thomas Wicker, Christoph Stritt, Alexandros G. Sotiropoulos, Manuel Poretti, Curtis Pozniak, Sean Walkowiak, Heidrun Gundlach, Nils Stein","doi":"10.1002/ggn2.202100022","DOIUrl":"10.1002/ggn2.202100022","url":null,"abstract":"Wheat has one of the largest and most repetitive genomes among major crop plants, containing over 85% transposable elements (TEs). TEs populate genomes much in the way that individuals populate ecosystems, diversifying into different lineages, sub‐families and sub‐populations. The recent availability of high‐quality, chromosome‐scale genome sequences from ten wheat lines enables a detailed analysis how TEs evolved in allohexaploid wheat, its diploids progenitors, and in various chromosomal haplotype segments. LTR retrotransposon families evolved into distinct sub‐populations and sub‐families that were active in waves lasting several hundred thousand years. Furthermore, It is shown that different retrotransposon sub‐families were active in the three wheat sub‐genomes, making them useful markers to study and date polyploidization events and chromosomal rearrangements. Additionally, haplotype‐specific TE sub‐families are used to characterize chromosomal introgressions in different wheat lines. Additionally, populations of non‐autonomous TEs co‐evolved over millions of years with their autonomous partners, leading to complex systems with multiple types of autonomous, semi‐autonomous and non‐autonomous elements. Phylogenetic and TE population analyses revealed the relationships between non‐autonomous elements and their mobilizing autonomous partners. TE population analysis provided insights into genome evolution of allohexaploid wheat and genetic diversity of species, and may have implication for future crop breeding.","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10564856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7