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Annual review of genomics and human genetics最新文献

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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":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":"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
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":null,"pages":null},"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":null,"pages":null},"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
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":null,"pages":null},"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
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":null,"pages":null},"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
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":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":"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
The Emergence and Global Spread of Noninvasive Prenatal Testing. 无创产前检测的出现和全球传播。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-13 DOI: 10.1146/annurev-genom-083118-015053
Vardit Ravitsky, Marie-Christine Roy, Hazar Haidar, Lidewij Henneman, John Marshall, Ainsley J Newson, Olivia M Y Ngan, Tamar Nov-Klaiman
{"title":"The Emergence and Global Spread of Noninvasive Prenatal Testing.","authors":"Vardit Ravitsky,&nbsp;Marie-Christine Roy,&nbsp;Hazar Haidar,&nbsp;Lidewij Henneman,&nbsp;John Marshall,&nbsp;Ainsley J Newson,&nbsp;Olivia M Y Ngan,&nbsp;Tamar Nov-Klaiman","doi":"10.1146/annurev-genom-083118-015053","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015053","url":null,"abstract":"Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. 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":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25584884","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
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":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":"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
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":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":"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
Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline. 避免灭绝:生殖系线粒体DNA纯化选择机制的最新研究进展。
IF 8.7 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-121420-081805
Swathi P Jeedigunta, Anastasia V Minenkova, Jonathan M Palozzi, Thomas R Hurd
{"title":"Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline.","authors":"Swathi P Jeedigunta,&nbsp;Anastasia V Minenkova,&nbsp;Jonathan M Palozzi,&nbsp;Thomas R Hurd","doi":"10.1146/annurev-genom-121420-081805","DOIUrl":"https://doi.org/10.1146/annurev-genom-121420-081805","url":null,"abstract":"<p><p>Mitochondria are unusual organelles in that they contain their own genomes, which are kept apart from the rest of the DNA in the cell. While mitochondrial DNA (mtDNA) is essential for respiration and most multicellular life, maintaining a genome outside the nucleus brings with it a number of challenges. Chief among these is preserving mtDNA genomic integrity from one generation to the next. In this review, we discuss what is known about negative (purifying) selection mechanisms that prevent deleterious mutations from accumulating in mtDNA in the germline. Throughout, we focus on the female germline, as it is the tissue through which mtDNA is inherited in most organisms and, therefore, the tissue that most profoundly shapes the genome. We discuss recent progress in uncovering the mechanisms of germline mtDNA selection, from humans to invertebrates.</p>","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":"39020312","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: 7
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