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Annual review of genomics and human genetics最新文献

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Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies. 肌瘤性心肌病的遗传基础及发病机制研究进展。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-12 DOI: 10.1146/annurev-genom-083118-015306
Raquel Yotti, Christine E Seidman, Jonathan G Seidman
{"title":"Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies.","authors":"Raquel Yotti,&nbsp;Christine E Seidman,&nbsp;Jonathan G Seidman","doi":"10.1146/annurev-genom-083118-015306","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015306","url":null,"abstract":"<p><p>Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. HCM is characterized by unexplained cardiac hypertrophy (increased chamber wall thickness) that is accompanied by enhanced cardiac contractility and impaired relaxation. DCM is defined as increased ventricular chamber volume with contractile impairment. In this review, we discuss recent analyses that provide new insights into the molecular mechanisms that cause these conditions. HCM studies have uncovered the critical importance of conformational changes that occur during relaxation and enable energy conservation, which are frequently disturbed by HCM mutations. DCM studies have demonstrated the considerable prevalence of truncating variants in titin and have discerned that these variants reduce contractile function by impairing sarcomerogenesis. These new pathophysiologic mechanisms open exciting opportunities to identify new pharmacological targets and develop future cardioprotective strategies.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"129-153"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015306","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37322829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 105
Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies. 全基因组关联研究时代对复杂性状进化的思考
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-07-05 DOI: 10.1146/annurev-genom-083115-022316
Guy Sella, Nicholas H Barton
{"title":"Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies.","authors":"Guy Sella,&nbsp;Nicholas H Barton","doi":"10.1146/annurev-genom-083115-022316","DOIUrl":"https://doi.org/10.1146/annurev-genom-083115-022316","url":null,"abstract":"<p><p>Many traits of interest are highly heritable and genetically complex, meaning that much of the variation they exhibit arises from differences at numerous loci in the genome. Complex traits and their evolution have been studied for more than a century, but only in the last decade have genome-wide association studies (GWASs) in humans begun to reveal their genetic basis. Here, we bring these threads of research together to ask how findings from GWASs can further our understanding of the processes that give rise to heritable variation in complex traits and of the genetic basis of complex trait evolution in response to changing selection pressures (i.e., of polygenic adaptation). Conversely, we ask how evolutionary thinking helps us to interpret findings from GWASs and informs related efforts of practical importance.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"461-493"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083115-022316","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37404447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 143
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. 结节性硬化症的遗传病因、诊断和治疗。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-24 DOI: 10.1146/annurev-genom-083118-015354
Catherine L Salussolia, Katarzyna Klonowska, David J Kwiatkowski, Mustafa Sahin
{"title":"Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.","authors":"Catherine L Salussolia,&nbsp;Katarzyna Klonowska,&nbsp;David J Kwiatkowski,&nbsp;Mustafa Sahin","doi":"10.1146/annurev-genom-083118-015354","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015354","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either <i>TSC1</i> or <i>TSC2</i>, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and neuropsychiatric manifestations of the disease have the greatest morbidity and mortality. TSC-associated epilepsy occurs in nearly all patients and is often difficult to treat because it is refractory to multiple antiseizure medications. The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"217-240"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015354","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37180783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 86
Genomic Research Through an Indigenous Lens: Understanding the Expectations. 通过本土视角的基因组研究:理解期望。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-20 DOI: 10.1146/annurev-genom-083118-015434
Nanibaa' A Garrison, Māui Hudson, Leah L Ballantyne, Ibrahim Garba, Andrew Martinez, Maile Taualii, Laura Arbour, Nadine R Caron, Stephanie Carroll Rainie
{"title":"Genomic Research Through an Indigenous Lens: Understanding the Expectations.","authors":"Nanibaa' A Garrison,&nbsp;Māui Hudson,&nbsp;Leah L Ballantyne,&nbsp;Ibrahim Garba,&nbsp;Andrew Martinez,&nbsp;Maile Taualii,&nbsp;Laura Arbour,&nbsp;Nadine R Caron,&nbsp;Stephanie Carroll Rainie","doi":"10.1146/annurev-genom-083118-015434","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015434","url":null,"abstract":"<p><p>Indigenous scholars are leading initiatives to improve access to genetic and genomic research and health care based on their unique cultural contexts and within sovereign-based governance models created and accepted by their peoples. In the past, Indigenous peoples' engagement with genomicresearch was hampered by a lack of standardized guidelines and institutional partnerships, resulting in group harms. This article provides a comparative analysis of research guidelines from Canada, New Zealand, Australia, and the United States that pertain to Indigenous peoples. The goals of the analysis are to identify areas that need attention, support Indigenous-led governance, and promote the development of a model research policy framework for genomic research and health care that has international relevance for Indigenous peoples.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"495-517"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015434","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37073843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 101
Roles of Extracellular Vesicles in High-Grade Gliomas: Tiny Particles with Outsized Influence. 细胞外囊泡在高级别胶质瘤中的作用:具有超大影响的微小颗粒。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-12 DOI: 10.1146/annurev-genom-083118-015324
Michael W Graner
{"title":"Roles of Extracellular Vesicles in High-Grade Gliomas: Tiny Particles with Outsized Influence.","authors":"Michael W Graner","doi":"10.1146/annurev-genom-083118-015324","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015324","url":null,"abstract":"<p><p>High-grade gliomas, particularly glioblastomas (grade IV), are devastating diseases with dismal prognoses; afflicted patients seldom live longer than 15 months, and their quality of life suffers immensely. Our current standard-of-care therapy has remained essentially unchanged for almost 15 years, with little new therapeutic progress. We desperately need a better biologic understanding of these complicated tumors in a complicated organ. One area of rejuvenated study relates to extracellular vesicles (EVs)-membrane-enclosed nano- or microsized particles that originate from the endosomal system or are shed from the plasma membrane. EVs contribute to tumor heterogeneity (including the maintenance of glioma stem cells or their differentiation), the impacts of hypoxia (angiogenesis and coagulopathies), interactions amid the tumor microenvironment (concerning the survival of astrocytes, neurons, endothelial cells, blood vessels, the blood-brain barrier, and the ensuing inflammation), and influences on the immune system (both stimulatory and suppressive). This article reviews glioma EVs and the ways that EVs manifest themselves as autocrine, paracrine, and endocrine factors in proximal and distal intra- and intercellular communications. The reader should note that there is much controversy, and indeed confusion, in the field over the exact roles for EVs in many biological processes, and we will engage some of these difficulties herein.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"331-357"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015324","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37148767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 12
Early Lessons from the Implementation of Genomic Medicine Programs. 基因组医学项目实施的早期经验教训。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-02-27 DOI: 10.1146/annurev-genom-083118-014924
Marc S Williams
{"title":"Early Lessons from the Implementation of Genomic Medicine Programs.","authors":"Marc S Williams","doi":"10.1146/annurev-genom-083118-014924","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-014924","url":null,"abstract":"<p><p>Massively parallel sequencing is emerging from research settings into clinical practice, helping the vision of precision medicine to become a reality. The most successful applications are using the tools of implementation science within the framework of the learning health-care system. This article examines the application of massively parallel sequencing to four clinical scenarios: pharmacogenomics, diagnostic testing, somatic testing for molecular tumor characterization, and population screening. For each application, it highlights an exemplar program to illustrate the enablers and challenges of implementation. International examples are also presented. These early lessons will allow other programs to account for these factors, helping to accelerate the implementation of precision medicine and health.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"389-411"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-014924","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37179097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 33
The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy. 面岬肱肌营养不良症的遗传学和表观遗传学。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-24 DOI: 10.1146/annurev-genom-083118-014933
Charis L Himeda, Peter L Jones
{"title":"The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy.","authors":"Charis L Himeda, Peter L Jones","doi":"10.1146/annurev-genom-083118-014933","DOIUrl":"10.1146/annurev-genom-083118-014933","url":null,"abstract":"Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, provides a powerful model of the complex interplay between genetic and epigenetic mechanisms of chromatin regulation. FSHD is caused by dysregulation of a macrosatellite repeat, either by contraction of the repeat or by mutations in silencing proteins. Both cases lead to chromatin relaxation and, in the context of a permissive allele, aberrant expression of the DUX4 gene in skeletal muscle. DUX4 is a pioneer transcription factor that activates a program of gene expression during early human development, after which its expression is silenced in most somatic cells. When misexpressed in FSHD skeletal muscle, the DUX4 program leads to accumulated muscle pathology. Epigenetic regulators of the disease locus represent particularly attractive therapeutic targets for FSHD, as many are not global modifiers of the genome, and altering their expression or activity should allow correction of the underlying defect. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 30, 2019. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"265-291"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-014933","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37180781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 47
The Genetics of Human Skin and Hair Pigmentation. 人类皮肤和头发色素沉着的遗传学。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-17 DOI: 10.1146/annurev-genom-083118-015230
William J Pavan, Richard A Sturm
{"title":"The Genetics of Human Skin and Hair Pigmentation.","authors":"William J Pavan,&nbsp;Richard A Sturm","doi":"10.1146/annurev-genom-083118-015230","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015230","url":null,"abstract":"<p><p>Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits-including polymorphisms in the enzymes and signaling proteins involved in melanogenesis, and the vital role of ion transport mechanisms operating during the maturation and distribution of the melanosome-has provided new insights into the regulation of pigmentation. A large number of novel loci involved in the process have been recently discovered through four large-scale genome-wide association studies in Europeans, two large genetic studies of skin color in Africans, one study in Latin Americans, and functional testing in animal models. The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"41-72"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37248980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 81
Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases. 利用全基因组信息预测疾病:打破复杂疾病和孟德尔疾病之间的障碍。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2018-08-31 Epub Date: 2018-04-11 DOI: 10.1146/annurev-genom-083117-021136
Daniel M Jordan, Ron Do
{"title":"Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases.","authors":"Daniel M Jordan,&nbsp;Ron Do","doi":"10.1146/annurev-genom-083117-021136","DOIUrl":"https://doi.org/10.1146/annurev-genom-083117-021136","url":null,"abstract":"<p><p>While sequence-based genetic tests have long been available for specific loci, especially for Mendelian disease, the rapidly falling costs of genome-wide genotyping arrays, whole-exome sequencing, and whole-genome sequencing are moving us toward a future where full genomic information might inform the prognosis and treatment of a variety of diseases, including complex disease. Similarly, the availability of large populations with full genomic information has enabled new insights about the etiology and genetic architecture of complex disease. Insights from the latest generation of genomic studies suggest that our categorization of diseases as complex may conceal a wide spectrum of genetic architectures and causal mechanisms that ranges from Mendelian forms of complex disease to complex regulatory structures underlying Mendelian disease. Here, we review these insights, along with advances in the prediction of disease risk and outcomes from full genomic information.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"19 ","pages":"289-301"},"PeriodicalIF":8.7,"publicationDate":"2018-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083117-021136","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36000279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 12
Population Screening for Hemoglobinopathies. 血红蛋白病的人群筛查。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2018-08-31 Epub Date: 2018-05-11 DOI: 10.1146/annurev-genom-091416-035451
H W Goonasekera, C S Paththinige, V H W Dissanayake
{"title":"Population Screening for Hemoglobinopathies.","authors":"H W Goonasekera,&nbsp;C S Paththinige,&nbsp;V H W Dissanayake","doi":"10.1146/annurev-genom-091416-035451","DOIUrl":"https://doi.org/10.1146/annurev-genom-091416-035451","url":null,"abstract":"<p><p>Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"19 ","pages":"355-380"},"PeriodicalIF":8.7,"publicationDate":"2018-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-091416-035451","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36089929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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: 52
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