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51.
Asterless is a centriolar protein required for centrosome function and embryo development in Drosophila 总被引:1,自引:0,他引:1
Varmark H Llamazares S Rebollo E Lange B Reina J Schwarz H Gonzalez C 《Current biology : CB》2007,17(20):1735-1745
BACKGROUND: Centrosomes, the major organizers of the microtubule network in most animal cells, are composed of centrioles embedded in a web of pericentriolar material (PCM). Recruitment and stabilization of PCM on the centrosome is a centriole-dependent function. Compared to the considerable number of PCM proteins known, the molecular characterization of centrioles is still very limited. Only a few centriolar proteins have been identified so far in Drosophila, most related to centriole duplication. RESULTS: We have cloned asterless (asl) and found that it encodes a 120 kD highly coiled-coil protein that is a constitutive pancentriolar and basal body component. Loss of asl function impedes the stabilization/maintenance of PCM at the centrosome. In embryos deficient for Asl, development is arrested right after fertilization. Asl shares significant homology with Cep 152, a protein described as a component of the human centrosome for which no functional data is yet available. CONCLUSIONS: The cloning of asl offers new insight into the molecular composition of Drosophila centrioles and a possible model for the role of its human homolog. In addition, the phenotype of asl-deficient flies reveals that a functional centrosome is required for Drosophila embryo development. 相似文献
52.
Schäffer AA Salzer U Hammarström L Grimbacher B 《Current opinion in genetics & development》2007,17(3):201-212
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Patients have recurrent bacterial infections and an increased risk of developing autoimmune diseases, lung damage, and selected cancers. Since 2003, four genes have been shown to be mutated in CVID patients: ICOS, TNFRSF13B (encoding TACI), TNFRSF13C (encoding BAFF-R) and CD19. Heterozygous mutations in TNFRSF13B are also associated with CVID, whereas the other three genes are purely recessive. Recent genetic linkage studies have also identified possible loci for dominant CVID genes on chromosomes 4q, 5p and 16q. These findings markedly improved the genetic diagnosis of CVID and point towards new strategies for future genetic studies. In addition, some CVID genes might be relevant to more common diseases such as asthma and stroke. 相似文献
53.
Carinci P Becchetti E Baroni T Carinci F Pezzetti F Stabellini G Locci P Scapoli L Tognon M Volinia S Bodo M 《European journal of histochemistry : EJH》2007,51(Z1):105-115
The normal development of cranial primordia and orofacial structures involves fundamental processes in which growth, morphogenesis, and cell differentiation take place and interactions between extracellular matrix (ECM) components, growth factors and embryonic tissues are involved. Biochemical and molecular aspects of craniofacial development, such as the biological regulation of normal or premature cranial suture fusion, has just begun to be understood, thanks mainly to studies performed in the last decade. Several mutations has been identified in both syndromic and non-syndromic craniosynostosis patients throwing new light onto the etiology, classification and developmental pathology of these diseases. In the more common craniosynostosis syndromes and other skeletal growth disorders, the mutations were identified in the genes encoding fibroblast growth factor receptor types 1-3 (FGFR1, 2 and 3) where they are dominantly acting and affect specific and important protein binding domain. The unregulated FGF signaling during intramembranous ossification is associated to the Apert and Crouzon syndrome. The non syndromic cleft of the lip and/or palate (CLP) has a more complex genetic background if compared to craniosynostosis syndrome because of the number of involved genes and type of inheritance. Moreover, the influence of environmental factor makes difficult to clarify the primary causes of this malformation. ECM represents cell environment and results mainly composed by collagens, fibronectin, proteoglycans (PG) and hyaluronate (HA). Cooperative effects of ECM and growth factors regulate regional matrix production during the morphogenetic events, connective tissue remodelling and pathological states. In the present review we summarize the studies we performed in the last years to better clarify the role of ECM and growth factors in the etiology and pathogenesis of craniosynostosis and CLP diseases. 相似文献
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Abderamane B Tih AE Ghogomu RT Blond A Bodo B 《Zeitschrift für Naturforschung. C, Journal of biosciences》2011,66(3-4):87-92
Six isoflavonoid derivatives among which three are new have been isolated from the stem heartwood of Lophira alata. The structures were elucidated from spectroscopic and chemical evidences. Two have unusual carbon skeletons, possibly resulting from a variant of isoflavonoid biogenesis. The two compounds form the first members of a new subclass of flavonoid compounds which we call "isobiflavonoids". The presence of these isoflavonoid compounds in this plant of the Ochnaceae family has important chemotaxonomic implications since it modifies the botanic distribution of isoflavonoid compounds in non-leguminous plants. 相似文献
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58.
The coronae of Narcissus pseudonarcissus flowers incorporated [1-14C]acetate almost exclusively into the fatty acid moieties of glycerolipids. After a 4 h incubation, the newly synthesized acids were: stearate plus palmitate (50%); oleate (17%); linoleate (32%); and linolenate (0.5%). Phosphatidylcholine and diacylglycerol were the principal labelled lipids. In pulse experiments these acids were further desaturated, with time, to an appreciable extent and, concurrently, transferred essentially from phosphatidylcholine to diacylglycerol, diacylgalactosylglycerol, and diacylgalabiosylglycerol. The labelling of diacylgalactosylglycerol and diacylgalabiosylglycerol paralleled the appearance of linolenate. The distribution of labelled acids in phosphatidylcholine, diacylgalactosylglycerol, and diacylgalabiosylglycerol was very different. The results were compared with those obtained in vitro with isolated coronae chromoplasts and discussed in relation to current schemes of fatty acid and glycerolipid synthesis in plant cells. 相似文献
59.
Bioassay-guided fractionation of cytotoxic of methanol extract of the seeds of Annona cherimola provided two novel cyclic peptides, cherimolacyclopeptide E (1) and cherimolacyclopeptide F (2), which exhibited significant cytotoxic activity against the KB (human nasopharyngeal carcinoma) cell culture system. The peptide 1 and 2 were elucidated by MS/MS fragmentation experiments using a Q-TOF mass spectrometer equipped with an ESI source, extensive 2D NMR analyses and chemical degradation. 相似文献
60.
In a chemical investigation of the seeds of Annona cherimola, a natural cyclic heptapeptide, cherimolacyclopeptide D, were isolated and purified by HPLC with three known cyclic peptides, cherimolacyclopeptides A, B and C. The structure was established by various analyses including MS/MS fragmentation, spectroscopic and chemical evidences. 相似文献