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531.
Stoetzel C Laurier V Davis EE Muller J Rix S Badano JL Leitch CC Salem N Chouery E Corbani S Jalk N Vicaire S Sarda P Hamel C Lacombe D Holder M Odent S Holder S Brooks AS Elcioglu NH Silva ED Da Silva E Rossillion B Sigaudy S de Ravel TJ Lewis RA Leheup B Verloes A Amati-Bonneau P Mégarbané A Poch O Bonneau D Beales PL Mandel JL Katsanis N Dollfus H 《Nature genetics》2006,38(5):521-524
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants. 相似文献
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Zhang ZG Lambert CA Servotte S Chometon G Eckes B Krieg T Lapière CM Nusgens BV Aumailley M 《Cellular and molecular life sciences : CMLS》2006,63(1):82-91
The GTP-binding proteins RhoA, Cdc42 and Rac1 regulate the organization and turnover of the cytoskeleton and cell-matrix adhesions,
structures bridging cells to their support, and translating forces, external or generated within the cell. To investigate
the specific requirements of Rho GTPases for biomechanical activities of clonal cell populations, we compared side-by-side
stable lines of human fibroblasts expressing constitutively active (CA) RhoA, Cdc42 or Rac1. There was no marked effect of
any CA GTPase on cell adhesion to different extracellular matrix proteins. Cell spreading was CA Rho GTPase specific and independent
of the extracellular matrix proteins allowing adhesion. Mechanical properties were dramatically restricted by CA RhoA on bi-
and in tri-dimensional surroundings, were boosted by CA Rac1 on bi-dimensional surroundings only, and were not or marginally
affected by CA Cdc42. In conclusion, the action of Rho GTPases appears to depend on the task cells are performing.
Received 12 September 2005; received after revision 5 October 2005; accepted 1 November 2005 相似文献
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Tommy Baumann Lucia Kuhn-Nentwig Carlo R. Largiadèr Wolfgang Nentwig 《Cellular and molecular life sciences : CMLS》2010,67(15):2643-2651
Defensins are a major family of antimicrobial peptides found throughout the phylogenetic tree. From the spider species: Cupiennius salei, Phoneutria reidyi, Polybetes pythagoricus, Tegenaria atrica, and Meta menardi, defensins belonging to the ‘ancestral’ class of invertebrate defensins were cloned and sequenced. The deduced amino acid
sequences contain the characteristic six cysteines of this class of defensins and reveal precursors of 60 or 61 amino acid
residues. The mature peptides consist of 37 amino acid residues, showing up to 70% identities with tick and scorpion defensins.
In C. salei, defensin mRNA was found to be constitutively expressed in hemocytes, ovaries, subesophageal nerve mass, hepatopancreas,
and muscle tissue. This is the first report presenting and comparing antimicrobial peptides belonging to the family of defensins
from spiders. 相似文献
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Vagal tone is responsible for the heterogeneous reactivity of atrial and ventricular contractile tissues to quinidine. Acetylcholine may make atrial cells more sensitive to the effects of quinidine. 相似文献