Annual review of genomics and human genetics最新文献_第9页

tRNA Metabolism and Neurodevelopmental Disorders. tRNA代谢与神经发育障碍。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-13 DOI: 10.1146/annurev-genom-083118-015334

Ashleigh E Schaffer, Otis Pinkard, Jeffery M Coller

{"title":"tRNA Metabolism and Neurodevelopmental Disorders.","authors":"Ashleigh E Schaffer, Otis Pinkard, Jeffery M Coller","doi":"10.1146/annurev-genom-083118-015334","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015334","url":null,"abstract":"tRNAs are short noncoding RNAs required for protein translation. The human genome includes more than 600 putative tRNA genes, many of which are considered redundant. tRNA transcripts are subject to tightly controlled, multistep maturation processes that lead to the removal of flanking sequences and the addition of nontemplated nucleotides. Furthermore, tRNAs are highly structured and posttranscriptionally modified. Together, these unique features have impeded the adoption of modern genomics and transcriptomics technologies for tRNA studies. Nevertheless, it has become apparent from human neurogenetic research that many tRNA biogenesis proteins cause brain abnormalities and other neurological disorders when mutated. The cerebral cortex, cerebellum, and peripheral nervous system show defects, impairment, and degeneration upon tRNA misregulation, suggesting that they are particularly sensitive to changes in tRNA expression or function. An integrated approach to identify tRNA species and contextually characterize tRNA function will be imperative to drive future tool development and novel therapeutic design for tRNA-associated disorders.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"359-387"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37235563","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: 54

Genetic Predisposition to Childhood Cancer in the Genomic Era. 基因组时代儿童癌症的遗传易感性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-13 DOI: 10.1146/annurev-genom-083118-015415

Sharon E Plon, Philip J Lupo

{"title":"Genetic Predisposition to Childhood Cancer in the Genomic Era.","authors":"Sharon E Plon, Philip J Lupo","doi":"10.1146/annurev-genom-083118-015415","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015415","url":null,"abstract":"Developments over the past five years have significantly advanced our ability to use genome-scale analyses-including high-density genotyping, transcriptome sequencing, exome sequencing, and genome sequencing-to identify the genetic basis of childhood cancer. This article reviews several key results from an expanding number of genomic studies of pediatric cancer: (a) Histopathologic subtypes of cancers can be associated with a high incidence of germline predisposition, (b) neurodevelopmental disorders or highly penetrant cancer predisposition syndromes can result from specific patterns of variation in genes encoding the SMARC family of chromatin remodelers, (c) genome-wide association studies with relatively small pediatric cancer cohorts have successfully identified single-nucleotide polymorphisms with large effect sizes and provided insight into population differences in cancer risk, and (d) multiple exome or genome analyses of unselected childhood cancer cohorts have yielded a 7-10% incidence of pathogenic variants in cancer predisposition genes. This work supports the increasing use of genomic sequencing in the care of pediatric cancer patients and at-risk family members.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"241-263"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015415","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37235560","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: 25

Massively Parallel Assays and Quantitative Sequence-Function Relationships. 大规模并行分析和定量序列-函数关系。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-15 DOI: 10.1146/annurev-genom-083118-014845

Justin B Kinney, David M McCandlish

{"title":"Massively Parallel Assays and Quantitative Sequence-Function Relationships.","authors":"Justin B Kinney, David M McCandlish","doi":"10.1146/annurev-genom-083118-014845","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-014845","url":null,"abstract":"Over the last decade, a rich variety of massively parallel assays have revolutionized our understanding of how biological sequences encode quantitative molecular phenotypes. These assays include deep mutational scanning, high-throughput SELEX, and massively parallel reporter assays. Here, we review these experimental methods and how the data they produce can be used to quantitatively model sequence-function relationships. In doing so, we touch on a diverse range of topics, including the identification of clinically relevant genomic variants, the modeling of transcription factor binding to DNA, the functional and evolutionary landscapes of proteins, and cis-regulatory mechanisms in both transcription and mRNA splicing. We further describe a unified conceptual framework and a core set of mathematical modeling strategies that studies in these diverse areas can make use of. Finally, we highlight key aspects of experimental design and mathematical modeling that are important for the results of such studies to be interpretable and reproducible.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"99-127"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-014845","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37245779","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

The Causes and Consequences of Genetic Interactions (Epistasis). 遗传相互作用的原因和结果(上位性)。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-13 DOI: 10.1146/annurev-genom-083118-014857

Júlia Domingo, Pablo Baeza-Centurion, Ben Lehner

引用次数: 138

The Status and Impact of Clinical Tumor Genome Sequencing. 临床肿瘤基因组测序的现状及影响

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-17 DOI: 10.1146/annurev-genom-083118-015034

Kenna R Mills Shaw, Anirban Maitra

引用次数: 18

Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology. Lynch综合征:现代分子肿瘤学时代从筛查到诊断到治疗。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-08 DOI: 10.1146/annurev-genom-083118-015406

Stacey A Cohen, Colin C Pritchard, Gail P Jarvik

引用次数: 45

Measuring Clonal Evolution in Cancer with Genomics. 用基因组学测量癌症克隆进化。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-05 DOI: 10.1146/annurev-genom-083117-021712

Marc J Williams, Andrea Sottoriva, Trevor A Graham

引用次数: 47

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years. 埃及开罗国家研究中心人类遗传学的发展:一个50年的故事。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-08 DOI: 10.1146/annurev-genom-083118-015201

Samia A Temtamy

引用次数: 6

Consanguinity and Inbreeding in Health and Disease in North African Populations. 北非人群健康与疾病的血缘关系和近亲繁殖。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-30 DOI: 10.1146/annurev-genom-083118-014954

Lilia Romdhane, Nessrine Mezzi, Yosr Hamdi, Ghada El-Kamah, Abdelhamid Barakat, Sonia Abdelhak

{"title":"Consanguinity and Inbreeding in Health and Disease in North African Populations.","authors":"Lilia Romdhane, Nessrine Mezzi, Yosr Hamdi, Ghada El-Kamah, Abdelhamid Barakat, Sonia Abdelhak","doi":"10.1146/annurev-genom-083118-014954","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-014954","url":null,"abstract":"North Africa is defined as the geographical region separated from the rest of the continent by the Sahara and from Europe by the Mediterranean Sea. The main demographic features of North African populations are their familial structure and high rates of familial and geographic endogamy, which have a proven impact on health, particularly the occurrence of genetic diseases, with a greater effect on the frequency and spectrum of the rarest forms of autosomal recessive genetic diseases. More than 500 different genetic diseases have been reported in this region, most of which are autosomal recessive. During the last few decades, there has been great interest in the molecular investigation of large consanguineous North African families. The development of local capacities has brought a substantial improvement in the molecular characterization of these diseases, but the genetic bases of half of them remain unknown. Diseases of known molecular etiology are characterized by their genetic and mutational heterogeneity, although some founder mutations are encountered relatively frequently. Some founder mutations are specific to a single country or a specific ethnic or geographic group, and others are shared by all North African countries or worldwide. The impact of consanguinity on common multifactorial diseases is less evident.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"155-179"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-014954","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37361681","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: 42

Pregnancy Immunogenetics and Genomics: Implications for Pregnancy-Related Complications and Autoimmune Disease. 妊娠免疫遗传学和基因组学:妊娠相关并发症和自身免疫性疾病的含义。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-08 DOI: 10.1146/annurev-genom-083118-014943

Hing-Yuen Yeung, Calliope A Dendrou

引用次数: 17