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41.
Marcella Zollino Rosetta Lecce Marina Murdolo Daniela Orteschi Giuseppe Marangi Angelo Selicorni Alina Midro Giovanni Sorge Giuseppe Zampino Luigi Memo Domenica Battaglia Michael Petersen Effie Pandelia Yolanda Gyftodimou Francesca Faravelli Romano Tenconi Livia Garavelli Laura Mazzanti Rita Fischetto Pietro Cavalli Salvatore Savasta Laura Rodriguez Giovanni Neri 《Human genetics》2008,123(3):319-319
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Ivanete de Oliveira Furo Amanda Almeida Monte Michelly da Silva dos Santos Marcella Mergulh?o Tagliarini Patricia C. M. O′Brien Malcolm A. Ferguson-Smith Edivaldo H. C. de Oliveira 《PloS one》2015,10(12)
The sunbittern (Eurypyga helias) is a South American Gruiformes, the only member of Family Eurypigidae. In most phylogenetic proposals, it is placed in a more distant position than other families of the so-called “core Gruiformes”. Different studies based on molecular, morphological and biogeographical data suggest that the Eurypigidae is closely related to the kagu (Rhynochetos jubatus), the only species in Rynochetidae, another family not included in the core Gruiformes. Here, the karyotype of the sunbittern is described for the first time, by classical and molecular cytogenetics, using whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. We found a diploid number of 80, with only one pair of biarmed autosomal macrochromosomes, similar to that observed in the kagu. Chromosome painting revealed that most syntenies found in the avian putative ancestral karyotype (PAK) were conserved in the sunbittern. However, PAK1, PAK2, and PAK5 corresponded to two chromosome pairs each. Probes derived from L. albicollis confirm that fissions in PAK1 and PAK2 were centric, whereas in PAK5 the fission is interstitial. In addition, there is fusion of segments homologous to PAK2q and PAK5. From a phylogenetic point of view, comparisons of our results with two other Gruiformes belonging to family Rallidae suggest that the PAK5q fission might be a synapomorphy for Gruiformes. Fissions in PAK1 and PAK2 are found only in Eurypigidae, and might also occur in Rynochetidae, in view of the similar chromosomal morphology between the sunbittern and the kagu. This suggests a close phylogenetic relationship between Eurypigidae and Rynochetidae, whose common ancestor was separated by the Gondwana vicariancy in South America and New Caledonia, respectively. 相似文献
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Benedetta Gualeni Marcella Facchini Fabio De Leonardis Ruggero Tenni Giuseppe Cetta Manuela Viola Alberto Passi Andrea Superti-Furga Antonella Forlino Antonio Rossi 《Matrix biology》2010,29(6):453-460
Mutations in the sulfate transporter gene, SCL26A2, lead to cartilage proteoglycan undersulfation resulting in chondrodysplasia in humans; the phenotype is mirrored in the diastrophic dysplasia (dtd) mouse. It remains unclear whether bone shortening and deformities are caused solely by changes in the cartilage matrix, or whether chondroitin sulfate proteoglycan undersulfation affects also signalling pathways involved in cell proliferation and differentiation. Therefore we studied macromolecular sulfation in the different zones of the dtd mouse growth plate and these data were related to growth plate histomorphometry and proliferation analysis.A 2-fold increase of non-sulfated disaccharide in dtd animals compared to wild-type littermates in the resting, proliferative and hypertrophic zones was detected indicating proteoglycan undersulfation; among the three zones the highest level of undersulfation was in the resting zone. The relative height of the hypertrophic zone and the average number of cells per column in the proliferative and hypertrophic zones were significantly reduced compared to wild-types; however the total height of the growth plate was within normal values. The chondrocyte proliferation rate, measured by bromodeoxyuridine labelling, was also significantly reduced in mutant mice. Immunohistochemistry combined with expression data of the dtd growth plate demonstrated that the sulfation defect alters the distribution pattern, but not expression, of Indian hedgehog, a long range morphogen required for chondrocyte proliferation and differentiation.These data suggest that in dtd mice proteoglycan undersulfation causes reduced chondrocyte proliferation in the proliferative zone via the Indian hedgehog pathway, therefore contributing to reduced long bone growth. 相似文献
46.
Spinaci M Merlo B Zannoni A Iacono E De Ambrogi M Turba ME Zambelli D 《Theriogenology》2007,67(4):872-877
Sex preselection in cats can have applications for both breeding purposes and as an experimental model for endangered felids. The present study examined the ability to produce cat embryos from in vitro fertilization (IVF) of in vitro matured (IVM) cat oocytes with flow cytometrically sorted spermatozoa and to verify the sex of the embryos obtained from sexed spermatozoa by PCR. In the first experiment, a total of 224 oocytes were fertilized with spermatozoa from six ejaculates sorted without sex separation. The sorting process did not influence the cleavage rate (sorted 44.0% versus unsorted 46.1%), day 6 morula-blastocyst rate (sorted 26.6% versus unsorted 29.6%) and day 7 blastocyst rate (sorted 16.5% versus unsorted 16.5%). In the second experiment, a total of 84 IVM oocytes were fertilized with sorted X- and Y-chromosome bearing spermatozoa from four ejaculates in order to obtain embryos of preselected sex. Embryonic sex determination by PCR revealed that 21 out of 24 embryos reaching morula/blastocyst stage (87.5%) were of the desired sex. In particular 12 out of 14 embryos (85.7%) derived from X-bearing spermatozoa were female and 9 embryos out of 10 (90%) derived from Y-bearing spermatozoa were male. Our results show, for the first time, that X- and Y-chromosome bearing spermatozoa sorted by high-speed flow cytometry can be successfully used in an IVM-IVF system to obtain cat embryos of a predetermined sex. 相似文献
47.
Liebert K Horton JR Chahar S Orwick M Cheng X Jeltsch A 《The Journal of biological chemistry》2007,282(31):22848-22855
The crystal structure of the Escherichia coli DNA adenine methyltransferase (EcoDam) in a binary complex with the cofactor product S-adenosyl-L-homocysteine (AdoHcy) unexpectedly showed the bound AdoHcy in two alternative conformations, extended or folded. The extended conformation represents the catalytically competent conformation, identical to that of EcoDam-DNA-AdoHcy ternary complex. The folded conformation prevents catalysis, because the homocysteine moiety occupies the target Ade binding pocket. The largest difference between the binary and ternary structures is in the conformation of the N-terminal hexapeptide ((9)KWAGGK(14)). Cofactor binding leads to a strong change in the fluorescence of Trp(10), whose indole ring approaches the cofactor by 3.3A(.) Stopped-flow kinetics and AdoMet cross-linking studies indicate that the cofactor prefers binding to the enzyme after preincubation with DNA. In the presence of DNA, AdoMet binding is approximately 2-fold stronger than AdoHcy binding. In the binary complex the side chain of Lys(14) is disordered, whereas Lys(14) stabilizes the active site in the ternary complex. Fluorescence stopped-flow experiments indicate that Lys(14) is important for EcoDam binding of the extrahelical target base into the active site pocket. This suggests that the hexapeptide couples specific DNA binding (Lys(9)), AdoMet binding (Trp(10)), and insertion of the flipped target base into the active site pocket (Lys(14)). 相似文献
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Hanessian S Auzzas L Giannini G Marzi M Cabri W Barbarino M Vesci L Pisano C 《Bioorganic & medicinal chemistry letters》2007,17(22):6261-6265
A series of omega-alkoxy ethers were prepared with variation of the length of the aliphatic chain of suberoylanilide hydroxamic acid (SAHA, vorinostat). Eight carbon long chain analogues showed the best activity, among which several substituted benzyl ether derivatives exhibited inhibitory activity on HDAC comparable to SAHA, and antiproliferative activity on three human cell lines (NB4, H460, and HCT-116) better than SAHA. However, no significant difference in antiproliferative activity was observed between two enantiomers bearing the benzyl ether moiety. 相似文献
50.
Edito Fabrizio Nicola Vanacore Marcella Valente Alfonso Rubino Giuseppe Meco 《BMC neurology》2007,7(1):24