Advances in GeneticsPub Date : 2020-01-01Epub Date: 2020-05-26DOI: 10.1016/bs.adgen.2020.03.002
Mark James Hamilton, Mohnish Suri
{"title":"\"Electrifying dysmorphology\": Potassium channelopathies causing dysmorphic syndromes.","authors":"Mark James Hamilton, Mohnish Suri","doi":"10.1016/bs.adgen.2020.03.002","DOIUrl":"https://doi.org/10.1016/bs.adgen.2020.03.002","url":null,"abstract":"<p><p>Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Known conditions within this subgroup are: Andersen-Tawil syndrome, Birk-Barel syndrome, Cantú syndrome, Keppen-Lubinsky syndrome, Temple-Baraitser syndrome, Zimmerman-Laband syndrome and a very similar disorder called Bauer-Tartaglia or FHEIG syndrome. Ion channelopathies are unlikely to be routinely considered in the differential diagnosis of children presenting with developmental concerns, and so detailed description and photographs of the clinical phenotype are provided to aid recognition. For several of these disorders, functional characterization of the genetic mutations responsible has led to identification of candidate therapies, including drugs already commonly used for other indications, which adds further impetus to their prompt recognition. Together, these cases illustrate the potential for mechanistic insights gained from genetic diagnosis to drive translational work toward targeted, disease-modifying therapies for rare disorders.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"105 ","pages":"137-174"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2020.03.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38069053","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}
{"title":"FMRP ribonucleoprotein complexes and RNA homeostasis.","authors":"Gabriela Aparecida Marcondes Suardi, Luciana Amaral Haddad","doi":"10.1016/bs.adgen.2020.01.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2020.01.001","url":null,"abstract":"<p><p>The Fragile Mental Retardation 1 gene (FMR1), at Xq27.3, encodes the fragile mental retardation protein (FMRP), and displays in its 5'-untranslated region a series of polymorphic CGG triplet repeats that may undergo dynamic mutation. Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability among men, and is most frequently due to FMR1 full mutation and consequent transcription repression. FMR1 premutations may associate with at least two other clinical conditions, named fragile X-associated primary ovarian insufficiency (FXPOI) and tremor and ataxia syndrome (FXTAS). While FXPOI and FXTAS appear to be mediated by FMR1 mRNA accumulation, relative reduction of FMRP, and triplet repeat translation, FXS is due to the lack of the RNA-binding protein FMRP. Besides its function as mRNA translation repressor in neuronal and stem/progenitor cells, RNA editing roles have been assigned to FMRP. In this review, we provide a brief description of FMR1 transcribed microsatellite and associated clinical disorders, and discuss FMRP molecular roles in ribonucleoprotein complex assembly and trafficking, as well as aspects of RNA homeostasis affected in FXS cells.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"105 ","pages":"95-136"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2020.01.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38069058","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}
Advances in GeneticsPub Date : 2020-01-01Epub Date: 2020-01-27DOI: 10.1016/bs.adgen.2019.12.001
Saurabh Pandey, Namisha Sharma, Manoj Prasad
{"title":"Role of RNA-interacting proteins in modulating plant-microbe interactions.","authors":"Saurabh Pandey, Namisha Sharma, Manoj Prasad","doi":"10.1016/bs.adgen.2019.12.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2019.12.001","url":null,"abstract":"<p><p>Successful infection of a pathogen in its host plant depends on the complex molecular interplay between host and the invading microbe. Plant-microbe interactions are primarily governed by signal interchange amid both the organisms. Effective passage of the pathogen into the plant system requires the circumvention of signal detection mechanisms and subsequent immune responses. As a mechanism to counteract defense response, pathogens deploy several RNA-interacting proteins (RIPs) or RNA molecules which interrupt the host transcriptional as well as signaling pathways, leading to successful infection and symptom development. The interference by pathogen-derived small RNAs (sRNA) in the gene silencing machinery of the host has been recently reported. In this context, the present review describes the pathogen- and host-specific RNA molecules and chaperones, their roles in modulating host immune response as well as pathogenesis, and the possible targets for manipulating the molecular mechanism to develop durable tolerance/resistance against diseases in crops.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"105 ","pages":"67-94"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2019.12.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38069057","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}
Advances in GeneticsPub Date : 2020-01-01Epub Date: 2020-10-06DOI: 10.1016/bs.adgen.2020.06.004
N Chandra Wickramasinghe, Predrag Slijepcevic
{"title":"Microbial transfers from Venus to Earth.","authors":"N Chandra Wickramasinghe, Predrag Slijepcevic","doi":"10.1016/bs.adgen.2020.06.004","DOIUrl":"https://doi.org/10.1016/bs.adgen.2020.06.004","url":null,"abstract":"<p><p>The possibility that the clouds of Venus are habitats for microorganisms has been discussed for several decades. Over the past two decades evidence to support this point of view has grown with new data from space probes and space exploration. In this article we argue that microorganisms are likely to be widely present in the clouds of Venus, and may under certain conditions have a ready route to Earth. Such transfers could occur by the action of the solar wind that leads to expulsion of parts of the atmosphere laden with microorganisms. The expelled material forms a comet-like tail in the antisolar direction and during inferior conjunctions of Venus could lead to injections of bacteria and other microorganisms onto the Earth. In situations of very low sunspot activity as now prevails, with a consequent weakening of the magnetopause this flux of microbes will be considerably enhanced. The inferior conjunction of 4 June 2020 together with the prevailing deep minimum in the sunspot cycle provides a combination of circumstances that is particularly favorable to such a process.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"106 ","pages":"123-132"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2020.06.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38509957","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}
Dhavendra Kumar, Edward J Steele, N Chandra Wickramasinghe
{"title":"Preface: The origin of life and astrobiology.","authors":"Dhavendra Kumar, Edward J Steele, N Chandra Wickramasinghe","doi":"10.1016/S0065-2660(20)30037-7","DOIUrl":"https://doi.org/10.1016/S0065-2660(20)30037-7","url":null,"abstract":"","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"106 ","pages":"xv-xviii"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0065-2660(20)30037-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38515887","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}
Advances in GeneticsPub Date : 2019-01-01Epub Date: 2018-12-07DOI: 10.1016/bs.adgen.2018.09.001
Ambily Sivadas, Vinod Scaria
{"title":"Population-scale genomics-Enabling precision public health.","authors":"Ambily Sivadas, Vinod Scaria","doi":"10.1016/bs.adgen.2018.09.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2018.09.001","url":null,"abstract":"<p><p>The current excitement for affordable genomics technologies and national precision medicine initiatives marks a turning point in worldwide healthcare practices. The last decade of global population sequencing efforts has defined the enormous extent of genetic variation in the human population resulting in insights into differential disease burden and response to therapy within and between populations. Population-scale pharmacogenomics helps to provide insights into the choice of optimal therapies and an opportunity to estimate, predict and minimize adverse events. Such an approach can potentially empower countries to formulate national selection and dosing policies for therapeutic agents thereby promoting public health with precision. We review the breadth and depth of worldwide population-scale sequencing efforts and its implications for the implementation of clinical pharmacogenetics toward making precision medicine a reality.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"103 ","pages":"119-161"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2018.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37084326","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}
Advances in GeneticsPub Date : 2019-01-01Epub Date: 2018-12-11DOI: 10.1016/bs.adgen.2018.11.001
Mark James Hamilton, Mohnish Suri
{"title":"CDK13-related disorder.","authors":"Mark James Hamilton, Mohnish Suri","doi":"10.1016/bs.adgen.2018.11.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2018.11.001","url":null,"abstract":"<p><p>Mutations in CDK13 have recently been identified as a novel cause of syndromic intellectual disability. In this chapter, we review the 44 cases of CDK13-related disorder reported to date, highlighting key clinical pointers to this diagnosis including characteristic craniofacial features, feeding difficulties in infancy, and the presence of structural heart or brain malformations. The spectrum of reported mutations is also described, demonstrating an excess of missense mutations arising in the protein kinase domain. Exploration of genotype-phenotype correlations suggests a trend toward milder phenotypes in patients with mutations predicted to cause haploinsufficiency of CDK13, while missense mutations affecting amino acid residue 842 appear most likely to be associated with structural malformations. The greater phenotypic impact of missense variants is hypothesized to occur due to a dominant-negative mechanism, by which the mutant protein acts to sequester cyclin K in inactive complexes. Functional studies to validate this hypothesis have not yet been carried out, however. Differential diagnosis and recommendations for clinical care of patients with CDK13-related disorder are also described, emphasizing baseline echocardiography, vigilance for feeding and swallowing difficulties, and regular developmental evaluation as key components of care. Finally, future directions for CDK13 research are discussed, including the need to resolve uncertainty regarding pathogenicity of CDK13 haploinsufficiency, and to gather further longitudinal data from large cohorts in order to inform the clinical care of patients with this diagnosis.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"103 ","pages":"163-182"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/bs.adgen.2018.11.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37084327","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}
{"title":"Copyright","authors":"","doi":"10.1016/s0065-2660(19)30007-0","DOIUrl":"https://doi.org/10.1016/s0065-2660(19)30007-0","url":null,"abstract":"","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/s0065-2660(19)30007-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"55872742","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}
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