Abstract:
:The Prader-Willi and Angelman syndromes are now well established as the paradigm of genomic imprinting in human disease. Over the past year, much has been learnt about the mechanisms by which these syndromes arise and molecular diagnostics for the majority of patients are now available. Mouse models for aspects of the syndromes have been established, and the first association between a gene, located in chromosome 15, at 15q11-q13, and a phenotype (albinism) has been proven. Large parts of the critical regions have been cloned and at least six genes identified. Three genes or DNA sequences may be imprinted: two of these demonstrate DNA-methylation imprints and one is functionally imprinted in mouse. While the molecular mechanism of imprinting is not yet understood, it is beginning to yield its secrets to DNA methylation, replication, and chromatin structure studies of the phenomenon.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Nicholls RDdoi
10.1016/0959-437x(93)90119-asubject
Has Abstractpub_date
1993-06-01 00:00:00pages
445-56issue
3eissn
0959-437Xissn
1879-0380pii
0959-437X(93)90119-Ajournal_volume
3pub_type
杂志文章,评审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
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abstract::Since the cloning of the Y-located testis-determining factor, sex determining region Y (SRY), several other genes have been implicated in the process of mammalian sex determination. Mutations of an SRY-related gene, SRY-related high-mobility group box 9 (SOX9), result in autosomal sex reversal and campomelic dysplasia...
journal_title:Current opinion in genetics & development
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abstract::Recent advances in cell reprogramming via employing different sets of factors, which allows generation of various cell types that are beyond the downstream developmental lineages from the starting cell type, provide significant opportunities to study fundamental biology and hold enormous promise in regenerative medici...
journal_title:Current opinion in genetics & development
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abstract::Mutant onco-proteins play a direct, causal role in cancer and are therefore considered attractive drug targets. Clinical experience has supported this view, with some exceptions. However, clinical benefit has often been restricted by rapid emergence of drug-resistant clones through several distinct mechanisms. This pr...
journal_title:Current opinion in genetics & development
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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
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abstract::Multicellularity has evolved multiple times independently from a variety of ancestral unicellular lineages. Past research on multicellularity was focused more on explaining why it was repeatedly invented and less so on the molecular foundations associated with each transition. Several recent comparative functional ana...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2008.09.004
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abstract::Ras proteins activate a signaling cascade through direct binding of the serine/threonine kinase Raf. They also activate additional signaling pathways that are essential for full biological activity. Candidate effectors for these pathways include RalGDS and phosphatidyl inositol 3' kinase, as well as several other Ras ...
journal_title:Current opinion in genetics & development
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abstract::Cell fates are instructed by signals emitted from specialized cell populations called organizers. The study of epidermal patterning in Drosophila is contributing novel insights concerning the establishment and action of such organizers. Juxtaposed rows of cells express either the wingless or hedgehog signaling molecul...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(94)90068-e
更新日期:1994-08-01 00:00:00
abstract::Notch signaling has been implicated in a wide variety of processes from cell-fate decisions, tissue patterning and morphogenesis to human diseases and cancer. A model for Notch directly regulating gene expression has been proposed and at least two signaling pathways have been identified; however, the molecular mechani...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
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更新日期:1998-08-01 00:00:00
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journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
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journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80049-8
更新日期:1994-04-01 00:00:00
abstract::We discuss recent work about cellular reprogramming during regeneration of the imaginal discs of Drosophila. These contain various lineage blocks, compartments, which express distinct genetic programmes. It has been found that after massive damage to a compartment cells from a neighbour compartment can transgress the ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2016.05.008
更新日期:2016-10-01 00:00:00
abstract::Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight impo...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2011.01.005
更新日期:2011-06-01 00:00:00
abstract::Acquired resistance is a major limitation for the successful treatment of cancer patients. Although numerous efficacious cancer therapeutics have been developed in the past decades, resistance arises due to a variety of reasons including tumoral genetic alterations, or modulation of factors in the tumor environment. U...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2019.02.006
更新日期:2019-02-01 00:00:00
abstract::The advent of single-cell sequencing has been revolutionary to the field of cancer genomics. Perfectly suited to capture cancer's heterogeneous nature, single-cell analyses provide information bulk sequencing could never hope to uncover. Many mechanisms of cancer have yet to be fully understood, and single-cell approa...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2017.01.002
更新日期:2017-02-01 00:00:00
abstract::Several decades of research provided detailed insight into how genes control development and evolution, whereas recent studies have expanded this purely genetic perspective by presenting strong evidence for environmental and epigenetic influences. We summarize examples of phenotypic plasticity and trans-generational e...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2017.03.001
更新日期:2017-08-01 00:00:00
abstract::Cell proliferation is dependent upon the activation of receptor tyrosine kinases and integrins by soluble growth factors and extracellular matrix proteins, respectively. It is now apparent that concerted, rather than individual, signaling by these receptors is the critical feature responsible for cell-cycle progressio...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(00)00155-6
更新日期:2001-02-01 00:00:00
abstract::The Caenorhabditis elegans hermaphrodite vulva is one of the best studied models for signal transduction and cell fate determination during organogenesis. Systematic forward genetic screens have identified a complex and highly interconnected signaling network formed by the conserved EGFR, NOTCH, and WNT signaling path...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2015.01.006
更新日期:2015-06-01 00:00:00
abstract::New structural studies of RNA polymerase II (Pol II) complexes mark the beginning of a detailed mechanistic analysis of the eukaryotic mRNA transcription cycle. Crystallographic models of the complete Pol II, together with new biochemical and electron microscopic data, give insights into transcription initiation. The ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.01.003
更新日期:2004-04-01 00:00:00
abstract::Dorsoventral pattern of Drosophila embryo is specified by the nuclear localization gradient of the transcription factor Dorsal. Genetic and genomic studies of this morphogen gradient provided important insights into spatial control of gene expression in development. Recent live imaging experiments revealed hitherto un...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2012.08.005
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abstract::In recent years, the classical approaches of experimental embryology have been used in combination with more modern techniques to investigate aspects of neurogenesis. This combination has advanced our knowledge of several areas of neuronal development, including the lineages of neuronal precursors, the segmentation of...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(05)80073-5
更新日期:1991-08-01 00:00:00
abstract::Imprinting occurs in the endosperm of flowering plants. Endosperm, produced by fertilization of the central cell in the female gametophyte, is essential for embryo and seed development. Several imprinted genes play an important role in endosperm development. The mechanism of gene imprinting involves DNA methylation an...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2007.08.011
更新日期:2007-12-01 00:00:00
abstract::In the Drosophila eye, photoreceptor clusters are arranged with mirror-image symmetry about the dorso-ventral midline. Recent work indicates critical rôles for Wingless and JAK/STAT signalling in setting up long-range gradients of positional information that determine this symmetry. Furthermore, important functions ha...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
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更新日期:1999-08-01 00:00:00
abstract::Over the last decade we have witnessed the convergence of two powerful experimental designs toward a common goal of defining the molecular subtypes that underpin the likelihood of a cancer patient responding to treatment in the clinic. The first of these 'experiments' has been the systematic sequencing of large number...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2013.12.002
更新日期:2014-02-01 00:00:00
abstract::Molecules and cellular processes important for nervous system development can be repurposed in adulthood for the regulation of adult neurogenesis, synaptic plasticity, and neural regeneration following injury or degeneration. Efforts to recapitulate neural development in order to ameliorate injury or disease are promi...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.04.006
更新日期:2020-12-01 00:00:00
abstract::Eukaryotic genomes encode genetic information in their linear sequence, but appropriate expression of their genes requires chromosomes to fold into complex three-dimensional structures. Fueled by a growing collection of sequencing and imaging-based technologies, studies have uncovered a hierarchy of DNA interactions, ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.03.005
更新日期:2020-04-01 00:00:00
abstract::Individual susceptibility to cancer in humans is determined by complex interactions between germline genetic variation and levels of exposure to environmental carcinogens or tumour promoters. Only a small fraction of cancer susceptibility is inherited in a Mendelian manner (high-penetrance familial cancer), and most t...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(03)00005-4
更新日期:2003-02-01 00:00:00
abstract::The definitive endoderm (DE) was first defined as the innermost germ layer found in all metazoan embryos. During development, it gives rise to a vast array of specialized epithelial cell types lining the respiratory and digestive systems, and contributes to associated organs such as thyroid, thymus, lungs, liver, and ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2012.05.002
更新日期:2012-08-01 00:00:00
abstract::All bovine chromosomes are now represented by a syntenic group, a linkage map and at least one in situ hybridization. Almost 1,000 loci are mapped, about 300 of which are coding sequences useful for comparative mapping and evolutionary inference. Economically important loci are beginning to appear on bovine linkage ma...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(95)80004-o
更新日期:1995-12-01 00:00:00
abstract::Proliferating cells must increase their mass coordinately with cell division. Recent evidence suggests that coupling of cell growth with cell division might be achieved by making synthesis of activators of cell division particularly sensitive to the capacity of the cell's protein synthesis machinery. ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(99)80011-2
更新日期:1999-02-01 00:00:00