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McGregor L Makela V Darling SM Vrontou S Chalepakis G Roberts C Smart N Rutland P Prescott N Hopkins J Bentley E Shaw A Roberts E Mueller R Jadeja S Philip N Nelson J Francannet C Perez-Aytes A Megarbane A Kerr B Wainwright B Woolf AS Winter RM Scambler PJ 《Nature genetics》2003,34(2):203-208
Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel proteins related to an extracellular matrix (ECM) blastocoelar protein found in sea urchin. The FRAS1 protein contains a series of N-terminal cysteine-rich repeat motifs previously implicated in BMP metabolism, suggesting that it has a role in both structure and signal propagation in the ECM. It has been speculated that Fraser syndrome is a human equivalent of the blebbed phenotype in the mouse, which has been associated with mutations in at least five loci including bl. As mapping data were consistent with homology of FRAS1 and bl, we screened DNA from bl/bl mice and identified a premature termination of mouse Fras1. Thus, the bl mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero. 相似文献
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Jinks RN Markley TL Taylor EE Perovich G Dittel AI Epifanio CE Cronin TW 《Nature》2002,420(6911):68-70
Hydrothermal vents along the mid-ocean ridges host ephemeral ecosystems of diverse endemic fauna including several crustacean species, some of which undergo planktonic development as larvae up to 1,000 m above and 100 km away from the vents. Little is known about the role of vision in the life history of vent fauna. Here we report that planktonic zoea larvae of the vent crab Bythograea thermydron possess image-forming compound eyes with a visual pigment sensitive to the blue light of mesopelagic waters. As they metamorphose and begin to descend to and settle at the vents, they lose their image-forming optics and develop high-sensitivity naked-retina eyes. The spectral absorbance of the visual pigment in these eyes shifts towards longer wavelengths from larva to postlarva to adult. This progressive visual metamorphosis trades imaging for increased sensitivity, and changes spectral sensitivity from the blue wavelengths of the larval environment towards the dim, longer wavelengths produced in the deeper bathypelagic vent environment of the adults. As hydrothermal vents produce light, vision may supplement thermal and chemical senses to orient postlarval settlement at vent sites. 相似文献
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K. Simkiss K. G. A. Jenkins Jill McLellan Elizabeth Wheeler 《Cellular and molecular life sciences : CMLS》1982,38(3):333-335
Summary The hepatopancreas of the garden snail (Helix aspersa) contains basophil cells which produce intracellular granules of CaMgP2O7. A variety of metals are incorporated into these granules either by direct substitution or by the synthesis of new pyrophosphate material.Supported by NERC grant GR3/3063. 相似文献
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Elizabeth Brown Chase W. N. Hinderstein G. DiLeone 《Cellular and molecular life sciences : CMLS》1965,21(9):526-527
Zusammenfassung Die Serum-Eigenschaften eines gegen hohe Insulindosen resistenten Mäusestammes KL werden mit einem Stamm BUB verglichen, bei welchem bereits eine zehnfach kleinere Insulindosis Konvulsionen verursacht. Es handelt sich nicht um einen Serumfaktor des Stammes KL, der die Insulinresistenz bewirkt oder der den Stamm BUB schützt. Da keine Antikörper gefunden wurden, bleibt die Ursache der Resistenz unaufgeklärt. 相似文献
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Conservation biology: biodiversity barometers 总被引:2,自引:0,他引:2