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11.
Xp-duplications with and without sex reversal   总被引:5,自引:0,他引:5  
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS.  相似文献   
12.
Saxifraga pentadactylis subsp. almanzorii , an endemic to the subalpine nucleus of Sierra de Gredos (central Spain), differs from its closest relative, subsp. willkommiana , by its less showy petals. An artificial crossing program was carried out in order to assess the degree of reproductive isolation between the subspecies. To facilitate interpretation of the results, the program was extended to 10 other interspecific hybrid combinations within sect. Saxifraga . All the data gathered are congruent with the occurrence of two evolutionary scenarios. Interspecific crossings, rendering moderate to high seed-set (in obtaining the F1), and vigorous but relatively sterile F1 offspring, reveal reproductive barriers at the level of the F1 fertility, probably originated as a byproduct of divergent evolution. In contrast, intraspecific crossings within S. pentadactylis resulted in seed-set values lower than expected (in obtaining the F1), in a majority of weak non-viable F1 offspring but also in a few fertile F1 hybrid specimens which were able to originate F2 offspring. This second pattern reveals reproductive barriers at the level of the F1 vitality, probably arisen in a quite abrupt fashion. The lower P/O for subsp. almanzorii as compared to subsp. willkommiana , together with the rest of the evidence suggest that the reproductive barriers between them might be the product of active selection against hybridization achieved by incrementing the levels of autogamy in the former.  相似文献   
13.
A linkage map with RFLP and isozyme markers for almond   总被引:12,自引:0,他引:12  
Inheritance and linkage studies were conducted with seven isozyme genes and 120 RFLPs in the F1 progeny of a cross between almond cultivars Ferragnes and Tuono. RFLPs were detected using 57 genomic and 43 cDNA almond clones. Eight of the cDNA probes corresponded to known genes (extensin, prunin (2), -tubulin, endopolygalacturonase, oleosin, actin depolymerizing factor and phosphoglyceromutase). Single-copy clones were found more frequently in the cDNA (65%) than in the genomic libraries (26%). Two maps were elaborated, one with the 93 loci heterozygous in Ferragnes and another with the 69 loci heterozygous in Tuono. Thirty-five loci were heterozygous in both parents and were used as bridges between both maps. Most of the segregations (91%) were of the 11 or 1111 types, and data were analyzed as if they derived from two backcross populations. Eight linkage groups covering 393 cM in Ferragnes and 394 in Tuono were found for each map. None of the loci examined in either map was found to be unlinked. Distorted segregation ratios were mainly concentrated in two linkage groups of the Ferragnes map.  相似文献   
14.
The seeds of Senna multijuga were extracted with water or 1% acetic acid and treated with ethanol, resulting in two insoluble fractions. After purification, the major one (FIA, 23%) was shown to be a galactomannan (Man:Gal 2.3:1;[] = + 54.6;[η]=1340mlg−1). It consists of a main chain of (1 → 4)-linked β-d-mannopyranosyl residues substituted at 06 by single-unit -d-galactopyranosyl side chains. The second fraction (FIB, 2.5%) was an O-acetyl-glucuronoarabinoxylan from the seed coats (O-acetyl 8.3 mol%; glucuronic acid 11.7%, Xyl:Ara ratio 20:1), which showed a predominance of 4-O-substituted Xylp units (84.4%), branched at 03 with non-reducing end units of Xylp, Araf and glucuronic acid. The O-acetyl positions in d-xylosyl units are at 02 (4.8%), 03 (4.4%) and 02,3 (0.9%). The ratio between 03 and 02 determined by 13C-nuclear magnetic resonance spectroscopy is 1.5:1.  相似文献   
15.
The pathogenic implications of hepatitis G virus (HGV) infection are still unclear. We searched for the presence of HGV RNA and HCV RNA sequences in liver and serum samples from 10 patients with chronic liver disease, 9 of whom were coinfected with HCV. All livers were negative for the presence of the HGV RNA minus strand and only six were positive for the presence of the positive strand, albeit at low levels. In striking contrast, the HCV RNA positive strand was detectable in the liver samples from all nine HCV-positive patients in titers ranging from 10(2) to 10(8) genomic eq/microg of RNA, and the negative HCV RNA strand was present in all but two of these patients. However, the positive-strand RNA titers in serum for the two viruses had similar ranges. These findings imply that the liver is not the primary replication site for HGV, at least in the population of HCV/HGV-coinfected patients. Absence of replication in liver tissue may explain the reported lack of influence of HGV coinfection on the course of chronic hepatitis C.  相似文献   
16.
Ten strains of filamentous, heterocystous nitrogen-fixing blue-green algae (cyanobacteria) were screened for growth performance and tolerance to temperature, pH, irradiance and salinity, together with their potential as producers of phycobiliprotein pigments. Phycobiliproteins typically accounted for about 50% total cell protein, the prevalent type being C-phycocyanin, followed by alloppycocyanin, with levels of 17 and 11% d.wt, respectively, in some strains of Anabaena and Nostoc. C-phycoerythrin was the major pigment in several Nostoc strains, reaching 10% d.wt. Some strains represent, therefore, excellent sources of one or more phycobiliproteins. All strains tolerated an irradiance of ca 2000 μmol photon m-2 s-1. Anabaena sp. ATCC 33047 and Nostoc sp. (Albufera) exhibited the widest optimum range of both temperature (30–45 and 25–40 °C) and pH (6.5–9.5 and 6.0–9.0) for growth, the former also showing significant salt tolerance. In an outdoor open system, productivity of cultures of two phycoerythrin-rich strains of Nostoc was over 20 g (d.wt) m-2 d-1 during summer. The growth performance of the allophycocyanin-rich Anabaena sp. ATCC 33047 in outdoor semi-continuous culture has been assessed throughout the year. Productivity values under optimized conditions ranged from 9 (winter) to 24 (summer) g (d.wt) m-2 d-1.  相似文献   
17.
The hexagonal (H) and the cubic (Q223) phases of the systems dodecyltrimethylammonium chloride-water and palmitoyllysophosphatidy choline-water have been studied by X-ray scattering techniques. The signs of the reflections of phase H were determined by a systematic study as a function of the water content, those of phase Q223 were assessed using a pattern recognition approach based upon the axiom that the histograms of the electron density maps of phases Q223 and H, extrapolated to the same concentration and properly normalized in scale and shape, are very similar to each other. In the case of phase Q223, all the sign combinations (the phi-sets) compatible with the observed reflections were generated, and each of the corresponding histograms was compared with the histogram of the map of phase H. One novelty of this work is the use of a highly sensitive criterion to estimate the similarity of the histograms, namely the distance in the six-dimensional space of the moments [mean value of (delta rho)n]1/n, for 3 greater than or equal to n greater than or equal to 8. In the two systems, the use of this criterion has led to the unambiguous choice of one electron density map. The maps show that the structure of phase Q223 consists of disjointed micelles (of type I), belonging to two different classes: those of one class are quasi-spherical in shape and are centered at the points a, those of the other class are disc-shaped and are centred at the points c. The results of this work rule out a structure formed by a cage-like distribution of rods enclosing a set of quasi-spherical micelles and is consistent with previous proposals. This is the second example, after that of phase Q227, of a micellar cubic phases in lipid-containing systems; all the known examples of phase Q223 are of type I, those of phase Q227 of type II.  相似文献   
18.
The animal cell polarity regulator Par-3 recruits the Par complex (consisting of Par-6 and atypical PKC, aPKC) to specific sites on the cell membrane. Although numerous physical interactions have been reported between Par-3 and the Par complex, it is unclear how each of these interactions contributes to the overall binding. Using a purified, intact Par complex and a quantitative binding assay, here, we found that the energy required for this interaction is provided by the second and third PDZ protein interaction domains of Par-3. We show that both Par-3 PDZ domains bind to the PDZ-binding motif of aPKC in the Par complex, with additional binding energy contributed from the adjacent catalytic domain of aPKC. In addition to highlighting the role of Par-3 PDZ domain interactions with the aPKC kinase domain and PDZ-binding motif in stabilizing Par-3–Par complex assembly, our results indicate that each Par-3 molecule can potentially recruit two Par complexes to the membrane during cell polarization. These results provide new insights into the energetic determinants and structural stoichiometry of the Par-3–Par complex assembly.  相似文献   
19.
Evergreen oaks are an emblematic element of the Mediterranean vegetation and have a leaf phenotype that seems to have remained unchanged since the Miocene. We hypothesise that variation of the sclerophyll phenotype among Iberian populations of Quercus coccifera is partly due to an ulterior process of ecotypic differentiation. We analysed the genetic structure of nine Iberian populations using ISSR fingerprints, and their leaf phenotypes using mean and intracanopy plasticity values of eight morphological (leaf angle, area, spinescence, lobation and specific area) and biochemical traits (VAZ pool, chlorophyll and β-carotene content). Climate and soil were also characterised at the population sites. Significant genetic and phenotypic differences were found among populations and between NE Iberia and the rest of the populations of the peninsula. Mean phenotypes showed a strong and independent correlation with both genetic and geographic distances. Northeastern plants were smaller, less plastic, with smaller, spinier and thicker leaves, a phenotype consistent with the stressful conditions that prevailed in the steppe environments of the refugia within this geographic area during glaciations. These genetic, phenotypic, geographic and environmental patterns are consistent with previously reported palaeoecological and common evidence. Such consistency leads us to conclude that there has been a Quaternary divergence within the sclerophyllous syndrome that was at least partially driven by ecological factors.  相似文献   
20.
Aim  Relationships between range size and species richness are contentious, yet they are key to testing the various hypotheses that attempt to explain latitudinal diversity gradients. Our goal is to utilize the largest data set yet compiled for New World woody plant biogeography to describe and assess these relationships between species richness and range size.
Location  North and South America.
Methods  We estimated the latitudinal extent of 12,980 species of woody plants (trees, shrubs, lianas). From these estimates we quantified latitudinal patterns of species richness and range size. We compared our observations with expectations derived from two null models.
Results   Peak richness and the smallest- and largest-ranged species are generally found close to the equator. In contrast to prominent diversity hypotheses: (1) mean latitudinal extent of tropical species is greater than expected; (2) latitudinal extent appears to be decoupled from species richness across New World latitudes, with abrupt transitions across subtropical latitudes; and (3) mean latitudinal extents show equatorial and north temperate peaks and subtropical minima. Our results suggest that patterns of range size and richness appear to be influenced by three broadly overlapping biotic domains (biotic provinces) for New World woody plants.
Main conclusions  Hypotheses that assume a direct relationship between range size and species richness may explain richness patterns within these domains, but cannot explain gradients in richness across the New World.  相似文献   
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