Abstract：
:In recent years, studies of cis-regulatory mechanisms have evolved from a predominant focus on promoter regions to the realization that spatial and temporal gene regulation is frequently driven by long-range enhancer clusters that operate within chromosomal compartments. This increased understanding of genome function, together with the emergence of technologies that enable whole-genome sequencing of patients' DNAs, open the prospect of dissecting the role of cis-regulatory defects in human disease. In this review we discuss how recent epigenomic studies have provided insights into the function of transcriptional enhancers. We then present examples that illustrate how integrative genomics can help uncover enhancer sequence variants underlying Mendelian and common polygenic human disease.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Miguel-Escalada I,Pasquali L,Ferrer Jdoi
10.1016/j.gde.2015.08.009subject
Has Abstractpub_date
2015-08-01 00:00:00pages
71-6eissn
0959-437Xissn
1879-0380pii
S0959-437X(15)00092-1journal_volume
33pub_type
杂志文章,评审abstract：:Numerous roles have been identified for extracellular signals such as Fibroblast Growth Factors (FGFs), Transforming Growth Factor-βs (TGFβs), Wingless-Int proteins (WNTs), and Sonic Hedgehog (SHH) in assigning fates to cells during development of the cerebrum. However, several fundamental questions remain largely une...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2013.04.004
更新日期：2013-08-01 00:00:00
abstract：:Retrotransposable element insertions are 20 times more numerous per unit length of DNA in the large human genome compared to the small Drosophila genome. Whereas all Drosophila elements are subject to constant turnover (recent insertion and elimination by selection), this has not generally been the case for human retr...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(02)00359-3
更新日期：2002-12-01 00:00:00
abstract：:Flowers are central to sexual reproduction in plants. The study of floral development proved tremendously successful in obtaining key insight into processes, such as fate determination, pattern formation, and growth regulation. Recent advances relate to the complex mechanisms underlying the crosstalk between phytohorm...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2015.01.001
更新日期：2015-06-01 00:00:00
abstract：:Methods to globally survey gene expression provide valuable insights into gene function during development. In particular, comprehensive in situ hybridization studies have demonstrated that gene expression patterns are extraordinarily diverse and new imaging techniques have been introduced to capture these patterns wi...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2008.08.003
更新日期：2008-12-01 00:00:00
abstract：:Axonal growth cones (GCs) steer in response to extrinsic cues using mechanisms that include local protein synthesis. This adaptive form of gene regulation occurs with spatial precision and depends on subcellular mRNA localisation. Recent genome-wide studies have shown unexpectedly complex and dynamically changing mRNA...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2011.04.004
更新日期：2011-08-01 00:00:00
abstract：:Population data suggest that many parasitic protozoa (e.g. Trypanosoma, Leishmania, Entamoeba and Giardia) reproduce clonally, but this hypothesis has been highly controversial for Plasmodium falciparum. Although reproduction is predominantly clonal in the enteric bacteria Escherichia coli and Salmonella, the level of...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80119-4
更新日期：1992-12-01 00:00:00
abstract：:Eukaryotic messenger RNA utilization is a tightly controlled process. Control of translation is exerted at several levels, but the predominant step is ribosome binding, which is rate limiting for translation of most mRNAs. There appear to be several alternative modes by which ribosomes bind to the mRNA and initiate tr...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80059-0
更新日期：1994-04-01 00:00:00
abstract：:Over the past twenty years, exciting developments in optical and molecular imaging approaches have allowed researchers to examine with unprecedented resolution the spatial organization of transcription sites in the nucleus. An attractive model that has developed from these studies is that active genes cluster to prefo...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2014.01.002
更新日期：2014-04-01 00:00:00
abstract：:Logical models provide insight about key control elements of biological networks. Based solely on the logical structure, we can determine state transition diagrams that give the allowed possible transitions in a coarse grained phase space. Attracting pathways and stable nodes in the state transition diagram correspond...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2010.09.005
更新日期：2010-12-01 00:00:00
abstract：:Studies of primate lentivirus phylogeny over the past decade have established a minimum of five related, but genetically distinct, groups of simian immunodeficiency virus (SIV), each originating from a different African primate species. The hypothesis that HIV-2 (and SIVmac) arose by cross-species transmission from so...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/0959-437x(95)80014-v
更新日期：1995-12-01 00:00:00
abstract：:Recent studies have uncovered a bifunctional role of the diffusible axon guidance molecules netrin-1 and UNC-6 in that they attract some axons and steer others away simultaneously. Homology screens have extended the semaphorin and collapsin family to include at least 20 members, in both secreted and membrane-bound for...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)80069-4
更新日期：1996-08-01 00:00:00
abstract：:In metazoans, lineage-specific transcription factors and epigenetic modifiers function to establish and maintain proper gene expression programs during development. Recent landmark studies in both mouse and human have defined a set of transcription factors whose ectopic expression by retroviral transduction is capable...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2008.01.013
更新日期：2008-04-01 00:00:00
abstract：:The genotype-phenotype map of human evolution is difficult to access since humans cannot be crossed with other species. Most of the ∼20 million genetic changes that occurred since the human and the chimpanzee lineage split, are fixed and hence completely correlated with all phenotypic changes that occurred during huma...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2014.08.008
更新日期：2014-12-01 00:00:00
abstract：:Modelling human colon cancer has long been the ambition of researchers and oncologists with the aim to better replicate disease progression and treatment response. Advances in our understanding of genetics, stem cell biology, tumour microenvironment and immunology have prepared the groundwork for recent major advances...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2020.12.003
更新日期：2021-01-07 00:00:00
abstract：:Type 1 diabetes is the most common autoimmune disorder in childhood, characterized by the development of autoimmunity through unknown environmental insults in genetically susceptible individuals. There are now over 50 regions of the genome that harbor type 1 diabetes susceptibility genes, with much of the genetic risk...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2018.01.006
更新日期：2018-06-01 00:00:00
abstract：:The computational properties of intracellular biochemical networks, for which the cell is assumed to be a 'well-mixed' reactor, have already been widely characterized. What has so far not received systematic treatment is the important role of space in many intracellular computations. Spatial network computations can b...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2009.12.006
更新日期：2010-02-01 00:00:00
abstract：:Recent reprogramming studies indicate that mammalian, somatic cells have the potential to achieve pluripotent states and undergo cell type switching. Such cellular traits are observed under natural conditions in animals that regenerate complex organs. A number of invertebrates display the amazing trait of whole body r...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2012.09.006
更新日期：2012-10-01 00:00:00
abstract：:Genetic conflicts arise when the evolutionary interests of two genetic elements are not aligned. Conflicts between genomes (e.g. pathogen versus host) or within the same genome (e.g. internal parasitic DNA sequences versus the rest of the host genome) can both foster 'molecular arms races', in which genes on both side...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2019.07.011
更新日期：2019-10-01 00:00:00
abstract：:Unexpected patterns of neuroblast, angioblast and myoblast movement and tissue organization have been defined using lineage tracing and transplantation methods. The most novel and enigmatic new data derive from analyses of genes in the Hox- and Pax-gene families. In addition to the characterization of expression patte...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(05)80175-3
更新日期：1992-08-01 00:00:00
abstract：:Empowered by modern genotyping and large samples, population structure can be accurately described and quantified even when it only explains a fraction of a percent of total genetic variance. This is especially relevant and interesting for humans, where fine-scale population structure can both confound disease-mapping...
journal_title：Current opinion in genetics & development
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.gde.2016.08.007
更新日期：2016-12-01 00:00:00
abstract：:It has been shown recently that some plant transcription factors that regulate cell fate during development can traffic through plasmodesmata-the intercellular channels that connect plant cells. This phenomenon helps explain the non-autonomous effects of many developmental mutations in plants and defines a novel mecha...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(97)80076-7
更新日期：1997-08-01 00:00:00
abstract：:Recent technological and computational advances in understanding the transcriptional and chromatin features of single cells have begun answering longstanding questions in the extent and impact of biological heterogeneity. Here, we outline the intrinsic and extrinsic mechanisms that underlie the transcriptional and fun...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2015.11.004
更新日期：2016-04-01 00:00:00
abstract：:Mitochondria are highly abundant in and essential to the beat-to-beat contractile performance of hearts. However, relatively few cardiac diseases have been attributed to primary mitochondrial dysfunction. The paucity of evidence for 'primary mitochondrial cardiac diseases' may be because such an entity does not exist....
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2016.03.001
更新日期：2016-06-01 00:00:00
abstract：:RET mutations have been identified as the underlying cause of two congenital diseases that predominately affect tissues of neural crest origin: the MEN 2 cancer syndromes and a proportion of cases of dominantly inherited Hirschsprung disease, a disorder of gut development. This review summarizes the disease-causing mu...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)90015-5
更新日期：1996-02-01 00:00:00
abstract：:The success of treatment of cancer patients depends on matching the most effective therapeutic regimen with the characteristics of the individual patient, balancing benefit against risk of adverse events. The primary challenge in achieving this goal is the heterogeneity of the disease, recognizing that breast, lung, c...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2008.01.018
更新日期：2008-02-01 00:00:00
abstract：:The eukaryotic nucleus is a highly compartmentalized and dynamic environment. Chromosome territories are arranged nonrandomly within the nucleus and numerous studies have indicated that a gene's position in the nucleus can impact its transcriptional activity. Here, we focus on recent advances in our understanding of t...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2009.02.007
更新日期：2009-04-01 00:00:00
abstract：:The past few years have been significant advances in our understanding of eukaryotic genomes. In the field of parasitology, this is best exemplified by the application of genome mapping techniques to the study of genome structure and function in the protozoan parasite, Leishmania. Although much is known about the orga...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/s0959-437x(96)80024-4
更新日期：1996-12-01 00:00:00
abstract：:The gene regulatory networks that control sex determination vary between species. Despite these differences, comparative studies in insects have found that alternative splicing is reiteratively used in evolution to control expression of the key sex-determining genes. Sex determination is best understood in Drosophila ...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2011.03.001
更新日期：2011-08-01 00:00:00
abstract：:Since the recognition of the uniqueness and coherence of the archaebacteria (sometimes called Archaea), our perception of their role in early evolution has been modified repeatedly. The deluge of sequence data and rapidly improving molecular systematic methods have combined with a better understanding of archaebacteri...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/0959-437x(94)90065-5
更新日期：1994-12-01 00:00:00
abstract：:The past decade has seen a huge jump in the resolution and scale at which we can interrogate the three-dimensional properties of the genome. This revealed different types of chromatin structures including topologically associating domains, partitioning genes and their enhancers into interacting domains. While the visu...
journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2020.12.015
更新日期：2021-01-23 00:00:00
