Abstract:
:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. We propose that BBS proteins play important, selective roles in the assembly and/or function of IFT particle components. Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction.
journal_name
Genes Devjournal_title
Genes & developmentauthors
Blacque OE,Reardon MJ,Li C,McCarthy J,Mahjoub MR,Ansley SJ,Badano JL,Mah AK,Beales PL,Davidson WS,Johnsen RC,Audeh M,Plasterk RH,Baillie DL,Katsanis N,Quarmby LM,Wicks SR,Leroux MRdoi
10.1101/gad.1194004subject
Has Abstractpub_date
2004-07-01 00:00:00pages
1630-42issue
13eissn
0890-9369issn
1549-5477pii
18/13/1630journal_volume
18pub_type
杂志文章abstract::The nonsense-mediated mRNA decay (NMD) pathway selectively degrades mRNAs harboring premature termination codons (PTCs). Seven genes (smg-1-7, for suppressor with morphological effect on genitalia) that are essential for NMD were originally identified in the nematode Caenorhabditis elegans, and orthologs of these gene...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.417707
更新日期:2007-05-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1.10.1327
更新日期:1987-12-01 00:00:00
abstract::Activation of the CLB gene cluster through the assembly of Mcm1p-Fkh2p complexes at target promoters is essential for mitotic entry and transition through M phase. We show that the activation of this mitotic transcriptional program is dependent on the recruitment of Ndd1p, a coactivator that performs its essential fun...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1074103
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abstract::Recruitment of p300/CBP by the hypoxia-inducible factor, HIF-1, is essential for the transcriptional response to hypoxia and requires an interaction between the p300/CBP CH1 region and HIF-1alpha. A new p300-CH1 interacting protein, p35srj, has been identified and cloned. p35srj is an alternatively spliced isoform of ...
journal_title:Genes & development
pub_type: 杂志文章
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journal_title:Genes & development
pub_type: 杂志文章
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journal_title:Genes & development
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journal_title:Genes & development
pub_type: 杂志文章
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abstract::Gut homeostasis is controlled by both immune and developmental mechanisms, and its disruption can lead to inflammatory disorders or cancerous lesions of the intestine. While the impact of bacteria on the mucosal immune system is beginning to be precisely understood, little is known about the effects of bacteria on gut...
journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2009-10-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2001-11-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2007-05-01 00:00:00
abstract::Activated Ras initiates a cascade of sequential phosphorylation events, including the protein kinases Raf, MEK, and MAP kinase. The Let-60 Ras-mediated signal transduction pathway controls vulval induction in Caenorhabditis elegans. Both Lin-45 Raf and Sur-1 MAP kinase have been determined to be essential factors duri...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.9.6.742
更新日期:1995-03-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.5.9.1577
更新日期:1991-09-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.9.4.471
更新日期:1995-02-15 00:00:00
abstract::To understand how chromosome shapes are determined by actions of condensins and cohesin, we devised a series of protocols in which their levels are precisely changed in Xenopus egg extracts. When the relative ratio of condensin I to II is forced to be smaller, embryonic chromosomes become shorter and thicker, being re...
journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2011-07-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:2011-11-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.963802
更新日期:2002-04-01 00:00:00
abstract::Chromatin reorganization is essential for transcriptional control by sequence-specific transcription factors. However, the molecular link between transcriptional control and chromatin reconfiguration remains unclear. By colocalization of the nuclear ecdysone receptor (EcR) on the ecdysone-induced puff in the salivary ...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1857410
更新日期:2010-01-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.259838.115
更新日期:2015-05-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.9.21.2623
更新日期:1995-11-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章,评审
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更新日期:2006-09-01 00:00:00
abstract::Previous work has shown that rRNA synthesis is strongly inhibited in yeast top1-top2 double mutants. Here, we show that inactivation of yeast topoisomerases can have paradoxical effects on transcription by RNA polymerase I. For example, transcription of ribosomal minigenes on extrachromosomal plasmids is greatly stimu...
journal_title:Genes & development
pub_type: 杂志文章
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更新日期:1992-07-01 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
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更新日期:1998-11-01 00:00:00
abstract::The nucleosome remodeling factor (NURF) is one of several ISWI-containing protein complexes that catalyze ATP-dependent nucleosome sliding and facilitate transcription of chromatin in vitro. To establish the physiological requirements of NURF, and to distinguish NURF genetically from other ISWI-containing complexes, w...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.1032202
更新日期:2002-12-15 00:00:00
abstract::The enzyme telomerase, which elongates chromosome termini, is a critical factor in determining long-term cellular proliferation and tissue renewal. Hence, even small differences in telomerase levels can have substantial consequences for human health. In budding yeast, telomerase consists of the catalytic Est2 protein ...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.246256.114
更新日期:2014-10-01 00:00:00
abstract::In Drosophila the function of the epidermal growth factor (EGF) receptor is modulated zygotically by three EGF-like proteins: Spitz (Spi), which is a potent activator; Vein (Vn), which is a moderate activator; and Argos (Aos), which is an inhibitor. Chimeric molecules were constructed in which the EGF domain of Vn was...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.12.7.908
更新日期:1998-04-01 00:00:00
abstract::Telomeres protect the ends of linear chromosomes from degradation and abnormal recombination events, and in vertebrates may be important in cellular senescence and cancer. However, very little is known about the structure of human telomeres. In this report we purify telomeres and analyze their termini. We show that fo...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.11.21.2801
更新日期:1997-11-01 00:00:00
abstract::Recombination catalyzed by the Flp site-specific recombinase involves breakage and joining of four DNA strands between two target substrates. The reaction is carried out in two steps of pairwise strand exchanges by a DNA-protein assembly in which four Flp monomers act cooperatively to execute strand cleavage and joini...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.11.18.2438
更新日期:1997-09-15 00:00:00
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journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.5.8.1477
更新日期:1991-08-01 00:00:00
abstract::Over a period of many months, Xenopus oocytes stockpile large quantities of tRNA for use during the first few hours of embryogenesis. To test the idea that these tRNAs are transcribed from one set of genes and that another set is used by somatic cells, we used synthetic oligonucleotides to analyze the sequence and ste...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.3.8.1190
更新日期:1989-08-01 00:00:00
abstract::An RNA-binding protein gene (rbp1) from Drosophila melanogaster, encoding an RNA recognition motif and an Arg-Ser rich (RS) domain, has been characterized. The predicted amino acid sequence of rbp1 is similar to those of the human splicing factor ASF/SF2, the Drosophila nuclear phosphoprotein SRp55, and the Drosophila...
journal_title:Genes & development
pub_type: 杂志文章
doi:10.1101/gad.6.12b.2569
更新日期:1992-12-01 00:00:00