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Annual review of genomics and human genetics最新文献

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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
{"title":"Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms.","authors":"Frank Grosveld,&nbsp;Jente van Staalduinen,&nbsp;Ralph Stadhouders","doi":"10.1146/annurev-genom-122220-093818","DOIUrl":"https://doi.org/10.1146/annurev-genom-122220-093818","url":null,"abstract":"<p><p>Accurate control of gene expression in the right cell at the right moment is of fundamental importance to animal development and homeostasis. At the heart of gene regulation lie the enhancers, a class of gene regulatory elements that ensures precise spatiotemporal activation of gene transcription. Mammalian genomes are littered with enhancers, which are frequently organized in cooperative clusters such as locus control regions and superenhancers. Here, we discuss our current knowledge of enhancer biology, including an overview of the discovery of the various enhancer subsets and the mechanistic models used to explain their gene regulatory function.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"127-146"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952321","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: 49
Therapeutic Opportunities of Targeting Canonical and Noncanonical PcG/TrxG Functions in Acute Myeloid Leukemia. 针对急性髓性白血病中规范和非规范 PcG/TrxG 功能的治疗机会
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-30 DOI: 10.1146/annurev-genom-111120-102443
Bernd B Zeisig, Chi Wai Eric So
{"title":"Therapeutic Opportunities of Targeting Canonical and Noncanonical PcG/TrxG Functions in Acute Myeloid Leukemia.","authors":"Bernd B Zeisig, Chi Wai Eric So","doi":"10.1146/annurev-genom-111120-102443","DOIUrl":"10.1146/annurev-genom-111120-102443","url":null,"abstract":"<p><p>Transcriptional deregulation is a key driver of acute myeloid leukemia (AML), a heterogeneous blood cancer with poor survival rates. Polycomb group (PcG) and Trithorax group (TrxG) genes, originally identified in <i>Drosophila melanogaster</i> several decades ago as master regulators of cellular identity and epigenetic memory, not only are important in mammalian development but also play a key role in AML disease biology. In addition to their classical canonical antagonistic transcriptional functions, noncanonical synergistic and nontranscriptional functions of PcG and TrxG are emerging. Here, we review the biochemical properties of major mammalian PcG and TrxG complexes and their roles in AML disease biology, including disease maintenance as well as drug resistance. We summarize current efforts on targeting PcG and TrxG for treatment of AML and propose rational synthetic lethality and drug-induced antagonistic pleiotropy options involving PcG and TrxG as potential new therapeutic avenues for treatment of AML.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"103-125"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38935204","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
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
{"title":"Heart Development and Congenital Structural Heart Defects.","authors":"Lucile Houyel,&nbsp;Sigolène M Meilhac","doi":"10.1146/annurev-genom-083118-015012","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015012","url":null,"abstract":"<p><p>Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sophisticated repair surgery. Although these defects have been described since the seventeenth century, it was only in 2005 that a consensus international nomenclature was adopted, followed by an international classification in 2017 to help provide better management of patients. Advances in genetic engineering, imaging, and omics analyses have uncovered mechanisms of heart formation and malformation in animal models, but approximately 80% of congenital heart defects have an unknown genetic origin. Here, we summarize current knowledge of congenital structural heart defects, intertwining clinical and fundamental research perspectives, with the aim to foster interdisciplinary collaborations at the cutting edge of each field. We also discuss remaining challenges in better understanding congenital heart defects and providing benefits to patients.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"257-284"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39039438","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: 17
The Need for a Human Pangenome Reference Sequence. 人类泛基因组参考序列的需求。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-30 DOI: 10.1146/annurev-genom-120120-081921
Karen H Miga, Ting Wang
{"title":"The Need for a Human Pangenome Reference Sequence.","authors":"Karen H Miga,&nbsp;Ting Wang","doi":"10.1146/annurev-genom-120120-081921","DOIUrl":"10.1146/annurev-genom-120120-081921","url":null,"abstract":"<p><p>The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"81-102"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410644/pdf/nihms-1715955.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38935203","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: 57
Threespine Stickleback: A Model System For Evolutionary Genomics. 三刺棒背鱼：进化基因组学的模型系统
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-28 DOI: 10.1146/annurev-genom-111720-081402
Kerry Reid, Michael A Bell, Krishna R Veeramah
{"title":"Threespine Stickleback: A Model System For Evolutionary Genomics.","authors":"Kerry Reid, Michael A Bell, Krishna R Veeramah","doi":"10.1146/annurev-genom-111720-081402","DOIUrl":"10.1146/annurev-genom-111720-081402","url":null,"abstract":"<p><p>The repeated adaptation of oceanic threespine sticklebacks to fresh water has made it a premier organism to study parallel evolution. These small fish have multiple distinct ecotypes that display a wide range of diverse phenotypic traits. Ecotypes are easily crossed in the laboratory, and families are large and develop quickly enough for quantitative trait locus analyses, positioning the threespine stickleback as a versatile model organism to address a wide range of biological questions. Extensive genomic resources, including linkage maps, a high-quality reference genome, and developmental genetics tools have led to insights into the genomic basis of adaptation and the identification of genomic changes controlling traits in vertebrates. Recently, threespine sticklebacks have been used as a model system to identify the genomic basis of highly complex traits, such as behavior and host-microbiome and host-parasite interactions. We review the latest findings and new avenues of research that have led the threespine stickleback to be considered a supermodel of evolutionary genomics.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"357-383"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8415275/pdf/nihms-1730595.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38836885","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: 0
The Role of Electronic Health Records in Advancing Genomic Medicine. 电子健康记录在推进基因组医学中的作用。
IF 7.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-26 DOI: 10.1146/annurev-genom-121120-125204
Jodell E Linder, Lisa Bastarache, Jacob J Hughey, Josh F Peterson
{"title":"The Role of Electronic Health Records in Advancing Genomic Medicine.","authors":"Jodell E Linder, Lisa Bastarache, Jacob J Hughey, Josh F Peterson","doi":"10.1146/annurev-genom-121120-125204","DOIUrl":"10.1146/annurev-genom-121120-125204","url":null,"abstract":"<p><p>Recent advances in genomic technology and widespread adoption of electronic health records (EHRs) have accelerated the development of genomic medicine, bringing promising research findings from genome science into clinical practice. Genomic and phenomic data, accrued across large populations through biobanks linked to EHRs, have enabled the study of genetic variation at a phenome-wide scale. Through new quantitative techniques, pleiotropy can be explored with phenome-wide association studies, the occurrence of common complex diseases can be predicted using the cumulative influence of many genetic variants (polygenic risk scores), and undiagnosed Mendelian syndromes can be identified using EHR-based phenotypic signatures (phenotype risk scores). In this review, we trace the role of EHRs from the development of genome-wide analytic techniques to translational efforts to test these new interventions to the clinic. Throughout, we describe the challenges that remain when combining EHRs with genetics to improve clinical care.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"219-238"},"PeriodicalIF":7.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39020313","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: 0
Applications of Single-Cell DNA Sequencing. 单细胞 DNA 测序的应用。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-15 DOI: 10.1146/annurev-genom-111320-090436
Gilad D Evrony, Anjali Gupta Hinch, Chongyuan Luo
{"title":"Applications of Single-Cell DNA Sequencing.","authors":"Gilad D Evrony, Anjali Gupta Hinch, Chongyuan Luo","doi":"10.1146/annurev-genom-111320-090436","DOIUrl":"10.1146/annurev-genom-111320-090436","url":null,"abstract":"<p><p>Over the past decade, genomic analyses of single cells-the fundamental units of life-have become possible. Single-cell DNA sequencing has shed light on biological questions that were previously inaccessible across diverse fields of research, including somatic mutagenesis, organismal development, genome function, and microbiology. Single-cell DNA sequencing also promises significant future biomedical and clinical impact, spanning oncology, fertility, and beyond. While single-cell approaches that profile RNA and protein have greatly expanded our understanding of cellular diversity, many fundamental questions in biology and important biomedical applications require analysis of the DNA of single cells. Here, we review the applications and biological questions for which single-cell DNA sequencing is uniquely suited or required. We include a discussion of the fields that will be impacted by single-cell DNA sequencing as the technology continues to advance.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"171-197"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410678/pdf/nihms-1723444.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25480979","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: 0
Utility and Diversity: Challenges for Genomic Medicine. 效用和多样性:基因组医学的挑战。
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-120220-082640
Wylie Burke
{"title":"Utility and Diversity: Challenges for Genomic Medicine.","authors":"Wylie Burke","doi":"10.1146/annurev-genom-120220-082640","DOIUrl":"https://doi.org/10.1146/annurev-genom-120220-082640","url":null,"abstract":"<p><p>Genomic information is poised to play an increasing role in clinical care, extending beyond highly penetrant genetic conditions to less penetrant genotypes and common disorders. But with this shift, the question of clinical utility becomes a major challenge. A collaborative effort is necessary to determine the information needed to evaluate different uses of genomic information and then acquire that information. Another challenge must also be addressed if that process is to provide equitable benefits: the lack of diversity of genomic data. Current genomic knowledge comes primarily from populations of European descent, which poses the risk that most of the human population will be shortchanged when health benefits of genomics emerge. These two challenges have defined my career as a geneticist and have taught me that solutions must start with dialogue across disciplinary and social divides.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"1-24"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25552227","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: 9
A Long, Fulfilling Career in Human Genetics. 漫长而充实的人类遗传学职业生涯。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-04 DOI: 10.1146/annurev-genom-111620-095614
Haig H Kazazian
{"title":"A Long, Fulfilling Career in Human Genetics.","authors":"Haig H Kazazian","doi":"10.1146/annurev-genom-111620-095614","DOIUrl":"https://doi.org/10.1146/annurev-genom-111620-095614","url":null,"abstract":"<p><p>I have been fortunate and privileged to have participated in amazing breakthroughs in human genetics since the 1960s. I was lucky to have trained in medical school at Dartmouth and Johns Hopkins, in pediatrics at the University of Minnesota and Johns Hopkins, and in genetics and molecular biology with Dr. Barton Childs at Johns Hopkins and Dr. Harvey Itano at the National Institutes of Health. Later, the collaborative spirit at Johns Hopkins and the University of Pennsylvania were important to my career. Here, I describe the thrill of scientific discovery in two diverse areas of human genetics: DNA haplotypes and their role in solving the molecular basis of beta thalassemia and the role of retrotransposons (jumping genes) in human biology. I hope that this article may inspire others who love human genetics as much as I do.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"27-53"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38946189","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: 2
Scaling Genetic Counseling in the Genomics Era. 基因组学时代的遗传咨询规模。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-15 DOI: 10.1146/annurev-genom-110320-121752
Laura M Amendola, Katie Golden-Grant, Sarah Scollon
{"title":"Scaling Genetic Counseling in the Genomics Era.","authors":"Laura M Amendola,&nbsp;Katie Golden-Grant,&nbsp;Sarah Scollon","doi":"10.1146/annurev-genom-110320-121752","DOIUrl":"https://doi.org/10.1146/annurev-genom-110320-121752","url":null,"abstract":"<p><p>The development of massively parallel sequencing-based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"339-355"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25480607","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: 9
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