Abstract:
:The sequences of both of the human sex chromosomes and of a substantial part of the chimpanzee Y chromosome have now been determined, and most of the protein-coding genes have been identified. The X chromosome codes for more than 800 proteins but the Y chromosome for only approximately 60, illustrating their very different evolutionary histories since their origin from an autosomal pair approximately 300 million years ago and explaining their differential importance in disease. These sequences have provided the basis for understanding normal patterns of variation, such as the distribution of SNPs, and patterns of linkage disequilibrium. In addition, they have been useful for identifying variants associated with simple Mendelian disorders such as microphthalmia or mental retardation, and more complex disorders such as osteoporosis.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Ross MT,Bentley DR,Tyler-Smith Cdoi
10.1016/j.gde.2006.04.006subject
Has Abstractpub_date
2006-06-01 00:00:00pages
213-8issue
3eissn
0959-437Xissn
1879-0380pii
S0959-437X(06)00067-0journal_volume
16pub_type
杂志文章,评审abstract::The introduction of the genome database to the human gene mapping community in September 1990 heralded the advent of a new generation of databases to serve the needs of the human genome initiative over the coming years. The databases will act as a fulcrum around which the activities of the human genome initiative can ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(91)80052-n
更新日期:1991-06-01 00:00:00
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...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(93)90119-a
更新日期:1993-06-01 00:00:00
abstract::More than 30 incurable neurological and neuromuscular diseases are caused by simple microsatellite expansions consisted of 3-6 nucleotides. These repeats can occur in non-coding regions and often result in a dominantly inherited disease phenotype that is characteristic of a toxic RNA gain-of-function. The expanded RNA...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2017.01.005
更新日期:2017-06-01 00:00:00
abstract::The DNA damage response (DDR) orchestrates DNA repair and halts cell cycle. If damage is not resolved, cells can enter into an irreversible state of proliferative arrest called cellular senescence. Organismal ageing in mammals is associated with accumulation of markers of cellular senescence and DDR persistence at tel...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2014.06.009
更新日期:2014-06-01 00:00:00
abstract::DNA methylation and chromatin modification are two global mechanisms that regulate gene expression. Recent studies provide insight into the mechanism of transcriptional silencing by a methyl-CpG binding protein, MeCP2. MeCP2 is shown to interact with the Sin3/histone deacetylase co-repressor complex. Thus, this intera...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(99)80024-0
更新日期:1999-04-01 00:00:00
abstract::Skeletal muscle cells have provided an especially auspicious system in which to dissect the roles of chromatin structure in the control of cell growth, differentiation, and development. The MyoD and MEF2 families of transcription factors act cooperatively to regulate the expression of skeletal muscle-specific genes. R...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(00)00224-0
更新日期:2001-10-01 00:00:00
abstract::The discovery of induced pluripotent stem cells (iPSCs) has solidified the concept of transcription factors as major players in controlling cell identity and provided a tractable tool to study how somatic cell identity can be dismantled and pluripotency established. A number of landmark studies have established hallma...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2018.06.002
更新日期:2018-10-01 00:00:00
abstract::The induction of apoptosis of virus-infected cells is an important host defense mechanism against invading pathogens. Some viruses express anti-apoptotic proteins that efficiently block apoptosis induced by death receptors or in response to stress signaled through mitochondria. Viral interference with host cell apopto...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(98)80066-x
更新日期:1998-02-01 00:00:00
abstract::Evolutionary studies suggest that the limbs of vertebrates and the appendages of arthropods do not share a common origin. However, recent genetic studies show new similarities in their developmental programmes. These similarities might be caused by the independent recruitment of homologous genes for similar functions ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2005.06.007
更新日期:2005-08-01 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::Current dogma holds that genes are the property of individual mammalian cells and partition between daughter cells during cell division. However, and rather unexpectedly, recent research has demonstrated horizontal cell-to-cell transfer of mitochondria and mitochondrial DNA in several mammalian cell culture systems. F...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2016.04.003
更新日期:2016-06-01 00:00:00
abstract::Organogenesis depends upon a well-ordered series of inductive events involving coordination of molecular pathways that regulate the generation and patterning of specific cell types. Key questions in organogenesis involve the identification of the molecular mechanisms by which proteins interact to organize distinct pat...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2009.09.002
更新日期:2009-10-01 00:00:00
abstract::The effort to map the entire human genome has led recently to the important milestone publication in late 1999 of the complete sequence of chromosome 22. This has been facilitated by increasingly sophisticated tools for genetic analysis and the ensuing wealth of detailed genetic information. The quest for genetic fact...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(00)00082-4
更新日期:2000-06-01 00:00:00
abstract::The neocortex represents the brain structure that has been subjected to a major expansion in its relative size during the course of mammalian evolution. An exquisite coordination of appropriate growth of competent territories along multiple axes and their spatial patterning is required for regionalization of the corti...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2010.05.003
更新日期:2010-08-01 00:00:00
abstract::Our understanding of the mechanism of action of retinoids has been greatly expanded by a series of recent findings. First, the three-dimensional structure of the ligand-binding domain of two retinoid receptors has been solved and suggests that ligand binding induces marked allosteric changes. Second, several co-factor...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(96)80085-2
更新日期:1996-10-01 00:00:00
abstract::Transcription is the first step in gene expression, and its regulation underlies multicellular development and the response to environmental changes. Most studies of transcriptional regulation have focused on the recruitment of RNA polymerase to promoters. However, recent work has shown that, for many promoters, post-...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2007.12.008
更新日期:2008-04-01 00:00:00
abstract::DNA sequence data are generally interpreted as favouring Kimura's neutral theory but not without dissent and often with a great deal of controversy with respect to molecular clocks, DNA polymorphism, adaptive evolution, and gene genealogy. Although the theory serves as a guiding principle, many issues concerning mutat...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(96)80034-7
更新日期:1996-12-01 00:00:00
abstract::Seed development starts at double fertilization when two sperms fuse with a female gamete, the egg and central cell, giving rise to the embryo and endosperm, respectively. Uniting two parental genomes into one, unique, zygotic genome is certainly the first event requiring large-scale chromatin modifications and remode...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2007.09.004
更新日期:2007-12-01 00:00:00
abstract::Atherosclerosis is the major cause of cardiovascular disease. Hypercholesterolaemia, hypertension and cigarette smoking are the common risk factors for atherosclerosis. These risk factors unite behind a convergence of mechanism, involving oxidation and inflammation in the artery wall that, with time, gives rise to cha...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.04.012
更新日期:2004-06-01 00:00:00
abstract::Most of the knowledge we have on the molecular mechanisms of transcription factor mediated reprogramming comes from studies conducted in induced pluripotency. Recently however, a few studies investigated the mechanisms of cellular reprogramming in direct and indirect transdifferentiation, which allows us to explore wh...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2017.06.001
更新日期:2017-10-01 00:00:00
abstract::The regulation of transcription elongation within the context of chromatin is a topic of great interest. Even though chromatin presents a barrier to transcription by the PolII machinery in vitro, this process is rather efficient in vivo. Importantly, the chromatin structure of the actively transcribed genes is altered...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2004.02.004
更新日期:2004-04-01 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::The evolutionary process of divergence, which ultimately leads to the generation of new species, is thought to occur usually without any gene exchange between the diverging populations. However, until the recent growth of multi-locus datasets, and the development of new population genetic methods, it has been very dif...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2006.10.005
更新日期:2006-12-01 00:00:00
abstract::Successful cell migration depends on the careful regulation of the timing of movement, the guidance of motile cells, and cytoskeletal and adhesive changes within the cells. This review focuses on genes that act cell-autonomously to promote these aspects of cell migration in Drosophila. We discuss recent advances in un...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2003.12.001
更新日期:2004-02-01 00:00:00
abstract::The formation and anteroposterior patterning of the three definitive germ layers, ectoderm, or epiblast, is the common theme of vertebrate gastrulation. What changes from system to system is the geometry of these events and the nature of the non-epiblast transient structures implicated. A number of molecular markers, ...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/0959-437x(95)80031-x
更新日期:1995-10-01 00:00:00
abstract::Tissue differentiation and signal transduction involve dramatic changes in gene expression. These changes can be brought about by the expression or activation of sequence-specific transcription factors. In order to regulate their target genes, such factors must navigate the intricate chromatin environment and engage t...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2008.07.007
更新日期:2008-10-01 00:00:00
abstract::Many zebrafish transcription factors have been isolated, and the challenge at present is to uncover the genes and pathways they regulate. The wealth of developmental mutants available for study and recent advances in zebrafish transgenic technology have allowed identification of putative transcriptional regulatory pat...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(99)00017-9
更新日期:1999-10-01 00:00:00
abstract::The increasing availability of large-scale autosomal genetic variation data sampled from world-wide geographic areas, coupled with advances in the statistical methodology to analyse these data, is showcasing the power of DNA as a major tool to gain insights into the demographic history of humans and other organisms. H...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2018.08.002
更新日期:2018-12-01 00:00:00
abstract::Thousands of genes produce polyadenylated mRNAs that still contain one or more introns. These transcripts are known as retained intron RNAs (RI-RNAs). In the past 10 years, RI-RNAs have been linked to post-transcriptional alternative splicing in a variety of developmental contexts, but they can also be dead-end produc...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/j.gde.2020.11.002
更新日期:2020-12-05 00:00:00
abstract::Loss of the retinoblastoma protein, pRb, appears to have a role in several human tumor types. Mice lacking pRb have been produced as models of human disease, but have a different spectrum of affected tissues. Recent work shows that the tumorigenic effects of pRb may be revealed only after additional genetic alteration...
journal_title:Current opinion in genetics & development
pub_type: 杂志文章,评审
doi:10.1016/s0959-437x(95)90057-8
更新日期:1995-02-01 00:00:00