Abstract:
:Since the discovery of RNA splicing in 1977 the knowledge of this important biological process has increased steadily following the identification of many of the mechanistic features of splicing: from the basic cis-acting splicing signals, through the detail composition and dynamics of the spliceosome, to the role played by accessory splicing factors and their interactions. Moreover, the realization that most genes undergo alternative splicing has had a strong impact in the overall cell proteome and metabolism research fields and also in better appraising the fundamental role played by splicing defects in human disease. This robust growth of knowledge is due in particular to the development of new powerful technical tools that range from methodologies useful to focus on single events in extreme detail to microarray and high-throughput RNA sequencing approaches that aim at providing a global vision of splicing changes. Here, we will discuss how these techniques relate to each other in terms of their respective strengths and weaknesses. In particular, we will focus on their value for evaluating the biological significance of splicing events. Finally, we provide some views on how these methodologies should move forward to improve our basic and applied knowledge of RNA splicing.
journal_name
Brief Funct Genomicsjournal_title
Briefings in functional genomicsauthors
Buratti E,Baralle M,Baralle FEdoi
10.1093/bfgp/els048subject
Has Abstractpub_date
2013-01-01 00:00:00pages
3-12issue
1eissn
2041-2649issn
2041-2657pii
els048journal_volume
12pub_type
杂志文章,评审abstract::The epitome of any genome research is to identify all the existing genes in a genome and investigate their roles. Various techniques have been applied to unveil the functions either by silencing or over-expressing the genes by targeted expression or random mutagenesis. Rice is the most appropriate model crop for gener...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elw041
更新日期:2017-07-01 00:00:00
abstract::Hemagglutinin (HA) is a transmembrane protein of the influenza A virus and a key component in its life cycle. The protein allows the virus to enter a host cell by recognizing specific glycans attached to transmembrane proteins of the host, which leads to viral endocytosis. In recent years, significant progress has bee...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elx042
更新日期:2018-11-26 00:00:00
abstract::Cancer is a complex disease, driven by aberrant activity in numerous signaling pathways in even individual malignant cells. Epigenetic changes are critical mediators of these functional changes that drive and maintain the malignant phenotype. Changes in DNA methylation, histone acetylation and methylation, noncoding R...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elx018
更新日期:2018-01-01 00:00:00
abstract::RNA-seq is a methodology for RNA profiling based on next-generation sequencing that enables to measure and compare gene expression patterns at unprecedented resolution. Although the appealing features of this technique have promoted its application to a wide panel of transcriptomics studies, the fast-evolving nature o...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu035
更新日期:2015-03-01 00:00:00
abstract::The specificity of protein-DNA interactions can be determined directly by sequencing the bound and unbound fractions in a standard binding reaction. The procedure is easy and inexpensive, and the accuracy can be high for thousands of sequences assayed in parallel. From the measurements, simple models of specificity, s...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu043
更新日期:2015-01-01 00:00:00
abstract::Next generation Sequencing (NGS) provides a powerful tool for discovery of domestication genes in crop plants and their wild relatives. The accelerated domestication of new plant species as crops may be facilitated by this knowledge. Re-sequencing of domesticated genotypes can identify regions of low diversity associa...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elr032
更新日期:2012-01-01 00:00:00
abstract::The use of genetically isolated populations can empower next-generation association studies. In this review, we discuss the advantages of this approach and review study design and analytical considerations of genetic association studies focusing on isolates. We cite successful examples of using population isolates in ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu022
更新日期:2014-09-01 00:00:00
abstract::Lysine N-ε-acetylation is a post-translational modification that regulates the function of histone and non-histone proteins. In several malignancies, histone acetyltransferase (HAT) activities are disturbed as a consequence of various genetic or epigenetic alterations. In particular, HATs can function as tumor suppres...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els065
更新日期:2013-05-01 00:00:00
abstract::Omics, such as genomics, transcriptome and proteomics, has been affected by the era of big data. A huge amount of high dimensional and complex structured data has made it no longer applicable for conventional machine learning algorithms. Fortunately, deep learning technology can contribute toward resolving these chall...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/ely030
更新日期:2019-02-14 00:00:00
abstract::Acquisition of evolutionary novelties is a fundamental process for adapting to the external environment and invading new niches and results in the diversification of life, which we can see in the world today. How such novel phenotypic traits are acquired in the course of evolution and are built up in developing embryo...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/ely007
更新日期:2018-09-27 00:00:00
abstract::Aberrant DNA methylation is considered to be one of the most common hallmarks of cancer. Several recent advances in assessing the DNA methylome provide great promise for deciphering the cancer-specific DNA methylation patterns. Herein, we present the current key technologies used to detect high-throughput genome-wide ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elw010
更新日期:2016-11-01 00:00:00
abstract::The polycomb group (PcG) proteins are key epigenetic regulators of gene expression in animals and plants. They act in multiprotein complexes, of which the best characterized is the polycomb repressive complex 2 (PRC2), which catalyses the trimethylation of histone H3 at lysine 27 (H3K27me3) at chromatin targets. In Ar...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elw007
更新日期:2017-03-01 00:00:00
abstract::Gene Set Enrichment (GSE) is a computational technique which determines whether a priori defined set of genes show statistically significant differential expression between two phenotypes. Currently, the gene sets used for GSE are derived from annotation or pathway databases, which often contain computationally based ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elq021
更新日期:2010-12-01 00:00:00
abstract::Patterns of evolution in immune defense genes help to understand the evolutionary dynamics between hosts and pathogens. Multiple insect genomes have been sequenced, with many of them having annotated immune genes, which paves the way for a comparative genomic analysis of insect immunity. In this review, I summarize th...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv002
更新日期:2015-11-01 00:00:00
abstract::The human genome has an almost equal distribution of unique and transposable genetic elements. Although at the transcriptome level, a relatively higher contribution from transposable elements derived RNA has been reported. This is further highlighted with evidence from pervasive transcription. Of the total RNA, noncod...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elaa026
更新日期:2021-01-25 00:00:00
abstract::High-throughput next-generation sequencing (NGS) technologies have rapidly generated a large volume of genomic data. To aid the development and evaluation of new statistical models and computational methods, NGS-based simulators have been proposed to construct better experimental workflows. However, the comparative pe...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elw012
更新日期:2017-05-01 00:00:00
abstract::In order to better understand several cellular processes, it is helpful to study how various components make up the system. This systems perspective is supported by several modelling tools including network analysis. Networks of protein-protein interactions (PPI networks) offer a way to depict, visualize and quantify ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els035
更新日期:2012-11-01 00:00:00
abstract::Piwi-interacting RNAs (piRNAs) and CRISPR RNAs (crRNAs) are two recently discovered classes of small noncoding RNA that are found in animals and prokaryotes, respectively. Both of these novel RNA species function as components of adaptive immune systems that protect their hosts from foreign nucleic acids-piRNAs repres...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els016
更新日期:2012-07-01 00:00:00
abstract::The presence of microchimeric cells is known for >100 years and well documented since decades. Earlier, microchimeric cells were mainly used for cell-based non-invasive prenatal diagnostics during early pregnancy. Microchimeric cells are also present beyond delivery and are associated to various autoimmune diseases, t...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elx027
更新日期:2018-07-01 00:00:00
abstract::Epigenetic memory represents a natural mechanism whereby the identity of a cell is maintained through successive cell cycles, allowing the specification and maintenance of differentiation during development and in adult cells. Cancer is a loss or reversal of the stable differentiated state of adult cells and may be me...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elt011
更新日期:2013-05-01 00:00:00
abstract::Genetic variation is crucial for successful barley improvement. Genomic technologies are improving dramatically and are providing access to the genetic diversity within this important crop species. Diverse collections of barley germplasm are being assembled and mined via genome-wide association studies and the identif...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elu006
更新日期:2014-07-01 00:00:00
abstract::Less than 2% of the human genome DNA is composed of protein-coding genes, although the majority of the human genome is transcribed, indicating the transcripts mostly are noncoding RNAs. Those noncoding RNAs with length between 200 nt and 200 kb are categorized as long noncoding RNA (lncRNA). Around 30 000 lncRNAs have...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv049
更新日期:2016-05-01 00:00:00
abstract::A recent highlight of genomics research has been the discovery of many families of transcripts which have function but do not code for proteins. An important group is long noncoding RNAs (lncRNAs), which are typically longer than 200 nt, and whose members originate from thousands of loci across genomes. We review prog...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu017
更新日期:2015-03-01 00:00:00
abstract::Gastric cancer remains the second most common cause of cancer-related death worldwide. Because of the poor prognosis of late-stage gastric cancer patients, it is imperative to develop new strategies to improve the survival rate of this disease. Currently, immunotherapy is considered as an innovative approach for cance...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/ely019
更新日期:2019-03-22 00:00:00
abstract::Premature termination of transcription, or attenuation, is an efficient RNA-based regulatory strategy that is commonly used in bacterial organisms. Attenuators are generally located in the 50 untranslated regions of genes or operons and combine a Rho-independent terminator, controlling transcription, with an RNA eleme...
journal_title:Briefings in functional genomics
pub_type: 更正并重新发布的文章,杂志文章,评审
doi:10.1093/bfgp/elq008
更新日期:2010-03-01 00:00:00
abstract::The evolution of next-generation sequencing technologies has facilitated the detection of causal genetic variants in diseases previously undiagnosed at a molecular level. However, in genome sequencing studies, the identification of disease genes among a candidate gene list is often difficult because of the large numbe...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/ely033
更新日期:2019-02-14 00:00:00
abstract::Prostate cancer (PCa) is the second most commonly diagnosed malignancy in men in the Western world and the second leading cause of cancer-related deaths among men worldwide. Although most cancers have the potential to metastasize under appropriate conditions, PCa favors the skeleton as a primary site of metastasis, su...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elt021
更新日期:2013-09-01 00:00:00
abstract::The Human Cell Atlas is a large, international consortium that aims to identify and describe every cell type in the human body. The comprehensive cellular maps that arise from this ambitious effort have the potential to transform many aspects of fundamental biology and clinical practice. Here, we discuss the technical...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elx029
更新日期:2018-07-01 00:00:00
abstract::Molecular network data are increasingly becoming available, necessitating the development of well performing computational tools for their analyses. Such tools enabled conceptually different approaches for exploring human diseases to be undertaken, in particular, those that study the relationship between a multitude o...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/els037
更新日期:2012-11-01 00:00:00
abstract::Coronary artery disease (CAD) and ischemic stroke are the two most predominant forms of cardiovascular diseases (CVDs) caused by genetic, epigenetic and environmental risk factors. Although studies on the impact of 'epigenetics' in CVDs is not new, its effects are increasingly being realized as a key regulatory determ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elz043
更新日期:2020-07-29 00:00:00