Annual review of genomics and human genetics最新文献_第4页

The SWI/SNF Complex in Neural Crest Cell Development and Disease. 神经嵴细胞发育和疾病中的SWI/SNF复合体。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-011723-082913

Daniel M Fountain, Tatjana Sauka-Spengler

{"title":"The SWI/SNF Complex in Neural Crest Cell Development and Disease.","authors":"Daniel M Fountain, Tatjana Sauka-Spengler","doi":"10.1146/annurev-genom-011723-082913","DOIUrl":"https://doi.org/10.1146/annurev-genom-011723-082913","url":null,"abstract":"While the neural crest cell population gives rise to an extraordinary array of derivatives, including elements of the craniofacial skeleton, skin pigmentation, and peripheral nervous system, it is today increasingly recognized that Schwann cell precursors are also multipotent. Two mammalian paralogs of the SWI/SNF (switch/sucrose nonfermentable) chromatin-remodeling complexes, BAF (Brg1-associated factors) and PBAF (polybromo-associated BAF), are critical for neural crest specification during normal mammalian development. There is increasing evidence that pathogenic variants in components of the BAF and PBAF complexes play central roles in the pathogenesis of neural crest-derived tumors. Transgenic mouse models demonstrate a temporal window early in development where pathogenic variants in Smarcb1 result in the formation of aggressive, poorly differentiated tumors, such as rhabdoid tumors. By contrast, later in development, homozygous inactivation of Smarcb1 requires additional pathogenic variants in tumor suppressor genes to drive the development of differentiated adult neoplasms derived from the neural crest, which have a comparatively good prognosis in humans.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"24 ","pages":"203-223"},"PeriodicalIF":8.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10104707","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

Padlock Probe-Based Targeted In Situ Sequencing: Overview of Methods and Applications. 基于挂锁探针的靶向原位测序:方法和应用综述。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-102722-092013

Anastasia Magoulopoulou, Sergio Marco Salas, Katarína Tiklová, Erik Reinhold Samuelsson, Markus M Hilscher, Mats Nilsson

引用次数: 1

A Journey from Blood Cells to Genes and Back. 从血细胞到基因再回来的旅程。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-101022-105018

Lucio Luzzatto

引用次数: 0

Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape. 在不断发展的基因组学景观中避免责任和其他法律地雷。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-100722-021725

Ellen Wright Clayton, Alex M Tritell, Adrian M Thorogood

引用次数: 1

The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood. 眼轴长度的遗传决定因素:从儿童小眼到高度近视。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-102722-090617

Daniel Jackson, Mariya Moosajee

{"title":"The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood.","authors":"Daniel Jackson, Mariya Moosajee","doi":"10.1146/annurev-genom-102722-090617","DOIUrl":"https://doi.org/10.1146/annurev-genom-102722-090617","url":null,"abstract":"The axial length of the eye is critical for normal visual function by enabling light to precisely focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the molecular mechanisms regulating ocular axial length remain poorly understood. Underdevelopment can lead to microphthalmia (defined as a small eye with an axial length of less than 19 mm at 1 year of age or less than 21 mm in adulthood) within the first trimester of pregnancy. However, continued overgrowth can lead to axial high myopia (an enlarged eye with an axial length of 26.5 mm or more) at any age. Both conditions show high genetic and phenotypic heterogeneity associated with significant visual morbidity worldwide. More than 90 genes can contribute to microphthalmia, and several hundred genes are associated with myopia, yet diagnostic yields are low. Crucially, the genetic pathways underpinning the specification of eye size are only now being discovered, with evidence suggesting that shared molecular pathways regulate under- or overgrowth of the eye. Improving our mechanistic understanding of axial length determination will help better inform us of genotype-phenotype correlations in both microphthalmia and myopia, dissect gene-environment interactions in myopia, and develop postnatal therapies that may influence overall eye growth.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"24 ","pages":"177-202"},"PeriodicalIF":8.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10478535","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

Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review. 人类长链非编码rna的全基因组分析:一个具有争议性的综述。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-112921-123710

Chris P Ponting, Wilfried Haerty

引用次数: 35

The Genomics of Auditory Function and Disease. 听觉功能与疾病的基因组学。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-06-06 DOI: 10.1146/annurev-genom-121321-094136

Shahar Taiber, Kathleen Gwilliam, Ronna Hertzano, Karen B Avraham

引用次数: 10

The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology. 英国生物库：全基因组关联研究科学的光辉典范，有能力检测真实世界流行病学的复杂性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-05-04 DOI: 10.1146/annurev-genom-121321-093606

Vanessa Y Tan, Nicholas J Timpson

{"title":"The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology.","authors":"Vanessa Y Tan, Nicholas J Timpson","doi":"10.1146/annurev-genom-121321-093606","DOIUrl":"10.1146/annurev-genom-121321-093606","url":null,"abstract":"Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants that are reliably associated with human traits. Although GWASs are restricted to certain variant frequencies, they have improved our understanding of the genetic architecture of complex traits and diseases. The UK Biobank (UKBB) has brought substantial analytical opportunity and performance to association studies. The dramatic expansion of many GWAS sample sizes afforded by the inclusion of UKBB data has improved the power of estimation of effect sizes but, critically, has done so in a context where phenotypic depth and precision enable outcome dissection and the application of epidemiological approaches. However, at the same time, the availability of such a large, well-curated, and deeply measured population-based collection has the capacity to increase our exposure to the many complications and inferential complexities associated with GWASs and other analyses. In this review, we discuss the impact that UKBB has had in the GWAS era, some of the opportunities that it brings, and exemplar challenges that illustrate the reality of using data from this world-leading resource.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"569-589"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10271092","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 Role of Telomeres in Human Disease. 端粒在人类疾病中的作用。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-010422-091101

Mary Armanios

{"title":"The Role of Telomeres in Human Disease.","authors":"Mary Armanios","doi":"10.1146/annurev-genom-010422-091101","DOIUrl":"https://doi.org/10.1146/annurev-genom-010422-091101","url":null,"abstract":"Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades, it has informed understanding of common disease mechanisms with broad implications for patient care. Short telomere syndromes are the most prevalent premature aging disorders, with prominent phenotypes affecting the lung and hematopoietic system. Less understood are a newly recognized group of cancer-prone syndromes that are associated with mutations that lengthen telomeres. A large body of new data from Mendelian genetics and epidemiology now provides an opportunity to reconsider paradigms related to the role of telomeres in human aging and cancer, and in some cases, the findings diverge from what was interpreted from model systems. For example, short telomeres have been considered potent drivers of genome instability, but age-associated solid tumors are rare in individuals with short telomere syndromes, and T cell immunodeficiency explains their spectrum. More commonly, short telomeres promote clonal hematopoiesis, including somatic reversion, providing a new leukemogenesis paradigm that is independent of genome instability. Long telomeres, on the other hand, which extend the cellular life span in vitro, are now appreciated to be the most common shared germline risk factor for cancer in population studies. Through this contemporary lens, I revisit here the role of telomeres in human aging, focusing on how short and long telomeres drive cancer evolution but through distinct mechanisms.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"363-381"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10111244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9312207","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: 29

Extrachromosomal DNA in Cancer. 癌症染色体外DNA。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-05-24 DOI: 10.1146/annurev-genom-120821-100535

Vineet Bafna, Paul S Mischel

{"title":"Extrachromosomal DNA in Cancer.","authors":"Vineet Bafna, Paul S Mischel","doi":"10.1146/annurev-genom-120821-100535","DOIUrl":"10.1146/annurev-genom-120821-100535","url":null,"abstract":"In cancer, complex genome rearrangements and other structural alterations, including the amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the formation and progression of tumors. ecDNA is a particularly challenging structural alteration. By untethering oncogenes from chromosomal constraints, it elevates oncogene copy number, drives intratumoral genetic heterogeneity, promotes rapid tumor evolution, and results in treatment resistance. The profound changes in DNA shape and nuclear architecture generated by ecDNA alter the transcriptional landscape of tumors by catalyzing new types of regulatory interactions that do not occur on chromosomes. The current suite of tools for interrogating cancer genomes is well suited for deciphering sequence but has limited ability to resolve the complex changes in DNA structure and dynamics that ecDNA generates. Here, we review the challenges of resolving ecDNA form and function and discuss the emerging tool kit for deciphering ecDNA architecture and spatial organization, including what has been learned to date about how this dramatic change in shape alters tumor development, progression, and drug resistance.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"29-52"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508221/pdf/nihms-1907774.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9701963","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: 10