Mutation Research-Reviews in Mutation Research最新文献

{"title":"A molecular genetics view on Mucopolysaccharidosis Type II","authors":"Shalja Verma ,&nbsp;Supansa Pantoom ,&nbsp;Janine Petters ,&nbsp;Anand Kumar Pandey ,&nbsp;Andreas Hermann ,&nbsp;Jan Lukas","doi":"10.1016/j.mrrev.2021.108392","DOIUrl":"10.1016/j.mrrev.2021.108392","url":null,"abstract":"<div><p>Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caused by mutations in the lysosomal iduronate-2-sulfatase (<em>IDS</em>) gene. The mutations cause a loss of enzymatic performance and result in the accumulation of glycosaminoglycans (GAGs), heparan sulfate and dermatan sulfate, which are no longer degradable. This inadvertent accumulation causes damage in multiple organs and leads either to a severe neurological course or to an attenuated course of the disease, although the exact relationship between mutation, extent of GAG accumulation and disease progression is not yet fully understood. This review is intended to present current diagnostic procedures and therapeutic interventions. In times when the genetic profile of patients plays an increasingly important role in the assessment of therapeutic success and future drug design, we chose to further elucidate the impact of genetic diversity within the <em>IDS</em> gene on disease phenotype and potential implications in current diagnosis, prognosis and therapy. We report recent advances in the structural biological elucidation of I2S enzyme that that promises to improve our future understanding of the molecular damage of the hundreds of <em>IDS</em> gene variants and will aid damage prediction of novel mutations in the future.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"788 ","pages":"Article 108392"},"PeriodicalIF":5.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108392","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39715539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic overview on the most widespread techniques for inducing and visualizing the DNA double-strand breaks","authors":"Ivett Berzsenyi ,&nbsp;Vasiliki Pantazi ,&nbsp;Barbara N. Borsos,&nbsp;Tibor Pankotai","doi":"10.1016/j.mrrev.2021.108397","DOIUrl":"10.1016/j.mrrev.2021.108397","url":null,"abstract":"<div><p>DNA double-strand breaks (DSBs) are one of the most frequent causes of initiating cancerous malformations, therefore, to reduce the risk, cells have developed sophisticated DNA repair mechanisms. These pathways ensure proper cellular function and genome integrity. However, any alteration or malfunction during DNA repair can influence cellular homeostasis, as improper recognition of the DNA damage or dysregulation of the repair process can lead to genome instability. Several powerful methods have been established to extend our current knowledge in the field of DNA repair. For this reason, in this review, we focus on the methods used to study DSB repair, and we summarize the advantages and disadvantages of the most commonly used techniques currently available for the site-specific induction of DSBs and the subsequent tracking of the repair processes in human cells. We highlight methods that are suitable for site-specific DSB induction (by restriction endonucleases, CRISPR-mediated DSB induction and laser microirradiation) as well as approaches [e.g., fluorescence-, confocal- and super-resolution microscopy, chromatin immunoprecipitation (ChIP), DSB-labeling and sequencing techniques] to visualize and follow the kinetics of DSB repair.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"788 ","pages":"Article 108397"},"PeriodicalIF":5.3,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S138357422100034X/pdfft?md5=f81a0a145a51160eb30f76ff4bbea5dd&pid=1-s2.0-S138357422100034X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39576791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"WITHDRAWN: Plans for the Reflections feature in Mutation Research Reviews","authors":"G. Hoffmann","doi":"10.1016/J.MRREV.2021.108383","DOIUrl":"https://doi.org/10.1016/J.MRREV.2021.108383","url":null,"abstract":"","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"6 1","pages":"108383"},"PeriodicalIF":5.3,"publicationDate":"2021-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80492032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A systematic review of long non-coding RNAs with a potential role in breast cancer","authors":"Reza Heidari ,&nbsp;Mostafa Akbariqomi ,&nbsp;Yazdan Asgari ,&nbsp;Diako Ebrahimi ,&nbsp;Hamid Alinejad-Rokny","doi":"10.1016/j.mrrev.2021.108375","DOIUrl":"10.1016/j.mrrev.2021.108375","url":null,"abstract":"<div><p><span>The human transcriptome<span> contains many non-coding RNAs (ncRNAs), which play important roles in gene regulation. Long noncoding RNAs (lncRNAs) are an important class of ncRNAs with lengths between 200 and 200,000 bases. Unlike mRNA, lncRNA lacks protein-coding features, specifically, open-reading frames, and start and </span></span>stop codons<span><span>. LncRNAs have been reported to play a role in the pathogenesis and progression of many cancers, including breast cancer (BC), acting as tumor suppressors or </span>oncogenes. In this review, we systematically mined the literature to identify 65 BC-related lncRNAs. We then perform an integrative bioinformatics analysis to identify 14 lncRNAs with a potential regulatory role in BC. The biological function of these 14 lncRNAs, their regulatory mechanisms, and roles in the initiation and progression of BC are discussed in this review. Additionally, we elaborate on the current and future applications of lncRNAs as diagnostic and/or therapeutic biomarkers in BC.</span></p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108375"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108375","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10620661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between glycation biomarkers, hyperglycemia, and micronucleus frequency: A meta -analysis","authors":"Permal Deo ,&nbsp;Michael Fenech ,&nbsp;Varinderpal S. Dhillon","doi":"10.1016/j.mrrev.2021.108369","DOIUrl":"10.1016/j.mrrev.2021.108369","url":null,"abstract":"<div><p><span>Micronucleus assay<span> has been used as a biomarker of DNA damage, chromosomal instability, cancer risk and accelerated aging. In this review, a meta-analysis was performed to assess the association between micronuclei (MNi) and diseases with increased </span></span>advanced glycation end products<span><span><span> (AGEs) and HbA1c. The review identified eight studies with 632 subjects with disease and 547 controls. The Mean Ratio (MRi) for AGE levels (MRi = 2.92, 95 %CI: 2.06–4.13, P &lt; 0.00001) and HbA1c levels (MRi = 1.32, 95 %CI: 1.12–1.56, P = 0.001) were significantly higher in the disease group compared to healthy controls. The meta-analysis indicated that the overall estimates of MRi for MNi was 1.83 (95 %CI: 1.38–2.42, p &lt; 0.0001) in subjects with disease compared to controls. Significant increases in MRi for MNi were also observed in the following sub-groups: subjects with disease for elevated AGEs (MRi = 1.62, 95 %CI: 1.12–2.35, P = 0.01), elevated HbA1c (MRi = 2.13, 95 %CI: 1.33–3.39, P = 0.002), lymphocytes MNi (MRi = 1.74, 95 %CI: 1.29–2.33, P = 0.0003), exfoliated buccal cells MNi (MRi = 2.86, 95 %CI: 1.19–6.87, P = 0.02), </span>type 2 diabetes mellitus<span><span> (T2DM) (MRi = 1.99, 95 %CI: 1.17–3.39, P = 0.01), chronic renal disease (MRi = 1.68, 95 %CI: 1.18–2.38, P = 0.004) and other disease groups (MRi = 2.52, 95 %CI: 1.28–4.96, P = 0.008). The results of this review suggest that MNi could be used as a biomarker of DNA damage and chromosomal instability in </span>degenerative disease where increased AGEs and HbA1c are implicated. The lack of heterogeneity for MN frequency when considered either for all studies or subgroup strengthened the MRi of the meta-analysis. However, the lack of significant association between MRi for MNi and MRi for AGEs or HbA1c indicates that the case-control studies investigated may be confounded by other variables. Thus, larger studies with long term AGE exposure is warranted to further understand the role of MN formation in the initiation and progression of diseases caused by excessive </span></span>glycation.</span></p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108369"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108369","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39074427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Orofacial clefts embryology, classification, epidemiology, and genetics","authors":"Ghenwa Nasreddine,&nbsp;Joelle El Hajj,&nbsp;Michella Ghassibe-Sabbagh","doi":"10.1016/j.mrrev.2021.108373","DOIUrl":"10.1016/j.mrrev.2021.108373","url":null,"abstract":"<div><p><span>Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations. They are classified as cleft lip with or without </span>cleft palate<span> (CL/P) and cleft palate only (CPO). OFCs have significant psychological and socio-economic impact on patients and their families and require a multidisciplinary approach for management and counseling. A complex interaction between genetic and environmental factors contributes to the incidence and clinical presentation of OFCs. In this comprehensive review, the embryology, classification, epidemiology and etiology of clefts are thoroughly discussed and a “state-of-the-art” snapshot of the recent advances in the genetics of OFCs is presented.</span></p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108373"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39058071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitotic syndicates Aurora Kinase B (AURKB) and mitotic arrest deficient 2 like 2 (MAD2L2) in cohorts of DNA damage response (DDR) and tumorigenesis","authors":"Rahaba Marima ,&nbsp;Rodney Hull ,&nbsp;Clement Penny ,&nbsp;Zodwa Dlamini","doi":"10.1016/j.mrrev.2021.108376","DOIUrl":"10.1016/j.mrrev.2021.108376","url":null,"abstract":"<div><p>Aurora Kinase B (AURKB) and Mitotic Arrest Deficient 2 Like 2 (MAD2L2) are emerging anticancer therapeutic targets. AURKB and MAD2L2 are the least well studied members of their protein families, compared to AURKA and MAD2L1. Both AURKB and MAD2L2 play a critical role in mitosis, cell cycle checkpoint, DNA damage response (DDR) and normal physiological processes. However, the oncogenic roles of AURKB and MAD2L2 in tumorigenesis and genomic instability have also been reported. DDR acts as an arbitrator for cell fate by either repairing the damage or directing the cell to self-destruction. While there is strong evidence of interphase DDR, evidence of mitotic DDR is just emerging and remains largely unelucidated. To date, inhibitors of the DDR components show effective anti-cancer roles. Contrarily, long-term resistance towards drugs that target only one DDR target is becoming a challenge. Targeting interactions between protein-protein or protein-DNA holds prominent therapeutic potential. Both AURKB and MAD2L2 play critical roles in the success of mitosis and their emerging roles in mitotic DDR cannot be ignored. Small molecule inhibitors for AURKB are in clinical trials. A few lead compounds towards MAD2L2 inhibition have been discovered. Targeting mitotic DDR components and their interaction is emerging as a potent next generation anti-cancer therapeutic target. This can be done by developing small molecule inhibitors for AURKB and MAD2L2, thereby targeting DDR components as anti-cancer therapeutic targets and/or targeting mitotic DDR. This review focuses on AURKB and MAD2L2 prospective synergy to deregulate the p53 DDR pathway and promote favourable conditions for uncontrolled cell proliferation.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108376"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39059048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD44 polymorphisms and its variants, as an inconsistent marker in cancer investigations","authors":"Mohammad Mahmoudi Gomari ,&nbsp;Marziye Farsimadan ,&nbsp;Neda Rostami ,&nbsp;Zahra mahmoudi ,&nbsp;Mahmood Fadaie ,&nbsp;Ibrahim Farhani ,&nbsp;Parastoo Tarighi","doi":"10.1016/j.mrrev.2021.108374","DOIUrl":"10.1016/j.mrrev.2021.108374","url":null,"abstract":"<div><p>Among cell surface markers<span><span>, CD44 is considered the main marker for identifying and isolating the </span>cancer stem cells<span> (CSCs) among other cells and has attracted significant attention in a variety of research areas. Many studies have shown the essential roles of CD44 in initiation, metastasis, and tumorigenesis in different types of cancer; however, the validity of CD44 as a therapeutic or diagnostic target has not been fully confirmed in some other studies. Whereas the association of specific single nucleotide polymorphisms (SNPs) in the CD44 gene and related variants with cancer risk have been observed in clinical investigations, the significance of these findings remains controversial. Here, we aimed to provide an up-to-date overview of recent studies on the association of CD44 polymorphisms and its variants with different kinds of cancer to determine whether or not it can be used as an appropriate candidate for cancer tracking.</span></span></p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108374"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108374","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39059049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Function and molecular mechanisms of APE2 in genome and epigenome integrity","authors":"Yunfeng Lin ,&nbsp;Anne McMahon ,&nbsp;Garrett Driscoll ,&nbsp;Sharon Bullock ,&nbsp;Jianjun Zhao ,&nbsp;Shan Yan","doi":"10.1016/j.mrrev.2020.108347","DOIUrl":"10.1016/j.mrrev.2020.108347","url":null,"abstract":"<div><p>APE2 is a rising vital player in the maintenance of genome and epigenome integrity. In the past several years, a series of studies have shown the critical roles and functions of APE2. We seek to provide the first comprehensive review on several aspects of APE2 in genome and epigenome integrity. We first summarize the distinct functional domains or motifs within APE2 including EEP (endonuclease/exonuclease/phosphatase) domain, PIP box and Zf-GRF motifs from eight species (<em>i.e.</em>, <em>Homo sapiens</em>, <em>Mus musculus</em>, <em>Xenopus laevis</em>, <em>Ciona intestinalis</em>, <em>Arabidopsis thaliana</em>, <em>Schizosaccharomyces pombe</em>, <em>Saccharomyces cerevisiae</em>, and <em>Trypanosoma cruzi</em>). Then we analyze various APE2 nuclease activities and associated DNA substrates, including AP endonuclease, 3′-phosphodiesterase, 3′-phosphatase, and 3′-5′ exonuclease activities. We also examine several APE2 interaction proteins, including PCNA, Chk1, APE1, Myh1, and homologous recombination (HR) factors such as Rad51, Rad52, BRCA1, BRCA2, and BARD1. Furthermore, we provide insights into the roles of APE2 in various DNA repair pathways (base excision repair, single-strand break repair, and double-strand break repair), DNA damage response (DDR) pathways (ATR-Chk1 and p53-dependent), immunoglobulin class switch recombination and somatic hypermutation, as well as active DNA demethylation. Lastly, we summarize critical functions of APE2 in growth, development, and diseases. In this review, we provide the first comprehensive perspective which dissects all aspects of the multiple-function protein APE2 in genome and epigenome integrity.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108347"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2020.108347","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39059054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"External modulators and redox homeostasis: Scenario in radiation-induced bystander cells","authors":"Sharmi Mukherjee,&nbsp;Anindita Dutta,&nbsp;Anindita Chakraborty","doi":"10.1016/j.mrrev.2021.108368","DOIUrl":"10.1016/j.mrrev.2021.108368","url":null,"abstract":"<div><p>Redox homeostasis is imperative to maintain normal physiologic and metabolic functions. Radiotherapy disturbs this balance and induces genomic instability in diseased cells. However, radiation-induced effects propagate beyond the targeted cells, affecting the adjacent non-targeted cells (bystander effects). The cellular impact of radiation, thus, encompasses both targeted and non-targeted effects. Use of external modulators along with radiation can increase radio-therapeutic efficiency. The modulators’ classification as protectors or sensitizers depends on interactions with damaged DNA molecules. Thus, it is necessary to realize the functions of various radio-sensitizers or radio-protectors in both irradiated and bystander cells. This review focuses on some modulators of radiation-induced bystander effects (RIBE) and their action mechanisms. Knowledge about the underlying signaling cross-talk may promote selective sensitization of radiation-targeted cells and protection of bystander cells.</p></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"787 ","pages":"Article 108368"},"PeriodicalIF":5.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.mrrev.2021.108368","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39056638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}