Annual review of genomics and human genetics最新文献_第7页

Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine. 细胞外基质的遗传疾病:从细胞和基因治疗到再生医学的未来应用。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-05-10 DOI: 10.1146/annurev-genom-083117-021702

S. Chakravarti, E. Enzo, Maithê Rocha Monteiro de Barros, Maria Benedetta Rizzarda Maffezzoni, G. Pellegrini

{"title":"Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine.","authors":"S. Chakravarti, E. Enzo, Maithê Rocha Monteiro de Barros, Maria Benedetta Rizzarda Maffezzoni, G. Pellegrini","doi":"10.1146/annurev-genom-083117-021702","DOIUrl":"https://doi.org/10.1146/annurev-genom-083117-021702","url":null,"abstract":"Metazoans have evolved to produce various types of extracellular matrix (ECM) that provide structural support, cell adhesion, cell-cell communication, and regulated exposure to external cues. Epithelial cells produce and adhere to a specialized sheet-like ECM, the basement membrane, that is critical for cellular homeostasis and tissue integrity. Mesenchymal cells, such as chondrocytes in cartilaginous tissues and keratocytes in the corneal stroma, produce a pericellular matrix that presents optimal levels of growth factors, cytokines, chemokines, and nutrients to the cell and regulates mechanosensory signals through specific cytoskeletal and cell surface receptor interactions. Here, we discuss laminins, collagen types IV and VII, and perlecan, which are major components of these two types of ECM. We examine genetic defects in these components that cause basement membrane pathologies such as epidermolysis bullosa, Alport syndrome, rare pericellular matrix-related chondrodysplasias, and corneal keratoconus and discuss recent advances in cell and gene therapies being developed for some of these disorders. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2022-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81541071","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: 4

Obtaining Complete Human Proteomes. 获得完整的人类蛋白质组。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-04-19 DOI: 10.1146/annurev-genom-112921-024948

Ana Martínez-Val, Ulises H. Guzmán, J. Olsen

{"title":"Obtaining Complete Human Proteomes.","authors":"Ana Martínez-Val, Ulises H. Guzmán, J. Olsen","doi":"10.1146/annurev-genom-112921-024948","DOIUrl":"https://doi.org/10.1146/annurev-genom-112921-024948","url":null,"abstract":"Proteins are the molecular effectors of the information encoded in the genome. Proteomics aims at understanding the molecular functions of proteins in their biological context. In contrast to transcriptomics and genomics, the study of proteomes provides deeper insight into the dynamic regulatory layers encoded at the protein level, such as posttranslational modifications, subcellular localization, cell signaling, and protein-protein interactions. Currently, mass spectrometry (MS)-based proteomics is the technology of choice for studying proteomes at a system-wide scale, contributing to clinical biomarker discovery and fundamental molecular biology. MS technologies are continuously being developed to fulfill the requirements of speed, resolution, and quantitative accuracy, enabling the acquisition of comprehensive proteomes. In this review, we present how MS technology and acquisition methods have evolved to meet the requirements of cutting-edge proteomics research, which is describing the human proteome and its dynamic posttranslational modifications with unprecedented depth. Finally, we provide a perspective on studying proteomes at single-cell resolution. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2022-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78925191","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: 6

Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm. 致病蛋白突变背后的多种分子机制:超越功能丧失范式。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-04-08 DOI: 10.1146/annurev-genom-111221-103208

Lisa Backwell, J. Marsh

{"title":"Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.","authors":"Lisa Backwell, J. Marsh","doi":"10.1146/annurev-genom-111221-103208","DOIUrl":"https://doi.org/10.1146/annurev-genom-111221-103208","url":null,"abstract":"Most known disease-causing mutations occur in protein-coding regions of DNA. While some of these involve a loss of protein function (e.g., through premature stop codons or missense changes that destabilize protein folding), many act via alternative molecular mechanisms and have dominant-negative or gain-of-function effects. In nearly all cases, these non-loss-of-function mutations can be understood by considering interactions of the wild-type and mutant protein with other molecules, such as proteins, nucleic acids, or small ligands and substrates. Here, we review the diverse molecular mechanisms by which pathogenic mutations can have non-loss-of-function effects, including by disrupting interactions, increasing binding affinity, changing binding specificity, causing assembly-mediated dominant-negative and dominant-positive effects, creating novel interactions, and promoting aggregation and phase separation. We believe that increased awareness of these diverse molecular disease mechanisms will lead to improved diagnosis (and ultimately treatment) of human genetic disorders. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86477953","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: 27

Equity in Genomic Medicine. 基因组医学的公平性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-04-01 DOI: 10.1146/annurev-genom-112921-022635

C. H. Halbert

{"title":"Equity in Genomic Medicine.","authors":"C. H. Halbert","doi":"10.1146/annurev-genom-112921-022635","DOIUrl":"https://doi.org/10.1146/annurev-genom-112921-022635","url":null,"abstract":"Since the completion of the Human Genome Project, considerable progress has been made in translating knowledge about the genetic basis of disease risk and treatment response into clinical services and public health interventions that have greater precision. It is anticipated that more precision approaches to early detection, prevention, and treatment will be developed and will enhance equity in healthcare and outcomes among disparity populations. Reduced access to genomic medicine research, clinical services, and public health interventions has the potential to exacerbate disparities in genomic medicine. The purpose of this article is to describe these challenges to equity in genomic medicine and identify opportunities and future directions for addressing these issues. Efforts are needed to enhance access to genomic medicine research, clinical services, and public health interventions, and additional research that examines the clinical utility of precision medicine among disparity populations should be prioritized to ensure equity in genomic medicine. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 23 is October 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87754217","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: 0

Investigating the Potential Roles of SINEs in the Human Genome. 研究正弦函数在人类基因组中的潜在作用。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-01 DOI: 10.1146/annurev-genom-111620-100736

Xiao-Ou Zhang, Henry Pratt, Zhiping Weng

引用次数: 14

Global Governance of Human Genome Editing: What Are the Rules? 人类基因组编辑的全球治理:规则是什么?

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-05 DOI: 10.1146/annurev-genom-111320-091930

Gary E Marchant

{"title":"Global Governance of Human Genome Editing: What Are the Rules?","authors":"Gary E Marchant","doi":"10.1146/annurev-genom-111320-091930","DOIUrl":"https://doi.org/10.1146/annurev-genom-111320-091930","url":null,"abstract":"Human gene editing, particularly using the new CRISPR/Cas9 technology, will greatly increase the capability to make precise changes to human genomes. Human gene editing can be broken into four major categories: somatic therapy, heritable gene editing, genetic enhancement, and basic and applied research. Somatic therapy is generally well governed by national regulatory systems, so the need for global governance is less urgent. All nations are in agreement that heritable gene editing should not proceed at this time, but there is likely to be divergence if and when such procedures are shown to be safe and effective. Gene editing for enhancement purposes is not feasible today but is more controversial with the public, and many nations do not have well-developed regulatory systems for addressing genetic enhancement. Finally, different nations treat research with human embryos very differently based on deeply embedded social, cultural, ethical, and legal traditions. Several international governance mechanisms are currently in operation for human gene editing, and several other governance mechanisms have been proposed. It is unlikely that any single mechanism will alone be effective for governing human gene editing; rather, a polycentric or ecosystem approach that includes several overlapping and interacting components is likely to be necessary.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25433231","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: 5

Brain Somatic Mutation in Aging and Alzheimer's Disease. 衰老和阿尔茨海默病中的大脑体细胞突变。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-12 DOI: 10.1146/annurev-genom-121520-081242

Michael B Miller, Hannah C Reed, Christopher A Walsh

引用次数: 27

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy. 临床遗传变异分类的科学与艺术及其对检测准确性的影响。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-26 DOI: 10.1146/annurev-genom-121620-082709

Hunter H Giles, Madhuri R Hegde, Elaine Lyon, Christine M Stanley, Iain D Kerr, Megan E Garlapow, Julie M Eggington

{"title":"The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.","authors":"Hunter H Giles, Madhuri R Hegde, Elaine Lyon, Christine M Stanley, Iain D Kerr, Megan E Garlapow, Julie M Eggington","doi":"10.1146/annurev-genom-121620-082709","DOIUrl":"https://doi.org/10.1146/annurev-genom-121620-082709","url":null,"abstract":"Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (oncology) contexts. This review focuses on variant classification for DNA next-generation sequencing tests. We first summarize current limitations in variant discovery and definition, and then describe the current five- and four-tier classification systems outlined in dominant standards and guideline publications for germline and somatic tests, respectively. We then discuss measures of variant classification discordance and the field's bias for positive results, as well as considerations for panel size and population screening in the context of estimates of positive predictive value thatincorporate estimated variant classification imperfections. Finally, we share opinions on the current state of variant classification from some of the authors of the most widely used standards and guideline publications and from other domain experts.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38908602","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: 1

Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms. (超级)增强子的转录调控:从发现到机制。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-05 DOI: 10.1146/annurev-genom-122220-093818

Frank Grosveld, Jente van Staalduinen, Ralph Stadhouders

引用次数: 49

Heart Development and Congenital Structural Heart Defects. 心脏发育和先天性结构性心脏缺陷。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-06-01 DOI: 10.1146/annurev-genom-083118-015012

Lucile Houyel, Sigolène M Meilhac

引用次数: 17