Xp-duplications with and without sex reversal

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.     

Liquid water and the origin of life

Liquid water has many peculiarities which confer special properties. The most important among them probably are the ability to establish hydrogen bonds, a high polarity and a high dielectric constant. In the presence of liquid water, large organic molecules have to manage the conflict between hydrophobic groups and hydrophilic groups. This duality can generate interesting prebiotic situations such as the stereoselective aggregation of short peptide sequences of alternating hydrophobic — hydrophilic residues into thermostable -sheets endowed with chemical acrivity. Liquid water is also a powerful hydrolytic agent. As such, it allows pathways which would have few chances to occur in an organic solvent.Presented at the Session Water in the Solar System and Its Role in Exobiology during the 26th General Assembly of the European Geophysical Society, 22–26 April 1991 in Wiesbaden, Germany.     

Production and initial characterisation of the xylan-degrading system of Phanerochaete chrysosporium

We report the optimum conditions for the degradation of oat spelt arabinoxylan and a preliminary characterisation of the inducible xylan-degrading system of the lignin-degrading white-rot fungus Phanerochaete chrysosporium. Xylanase activity was optimal at pH 5.0 and 50°C; see attached sheet the maximum reaction velocity (V_max) of the system was 3.86 units (U) mg^–1 protein with arabinoxylan as substrate and the substrate concentration giving half V_max (S_0.5) was 0.52 mg ml^–1. At concentrations of arabinoxylan greater than 15 mg ml^–1 excess substrate inhibition was observed. Xylose at 0.9 mm inhibited activity to the extent of 50%. Xylanase activity increased as a function of the dilution of the enzyme preparation prior to assay. It was resolved into four peaks by using a DEAE-Biogel column; the material in these peaks differed with respect to xylan solubilisation and the formation of reducing sugars. Electrofocusing gels allowed visualisation of several bands of activity corresponding to each peak. The arabinoxylan degradation system of P. chrysosporium is therefore composed of multiple components. Correspondence to: P. Broda     

The 28 kDa apoprotein of CP 26 in PS II binds copper

Photosystem II (PS II) particles isolated from spinach in the presence of 10 M CuSO₄ contained 1.2 copper/300 Chl that was resistant to EDTA. When CuSO₄ was not added during the isolation, PS II particles contained variable amounts of copper resistant to EDTA (0.1–1.1 copper/300 Chl). No correlation was found between copper content and oxygen evolving capacity of the PS II particles. To identify the copper binding protein, we developed a fractionation procedure which included solubilisation of PS II particles followed by precipitation with polyethylene glycol. A 22-fold purification of copper with respect to protein was achieved for a 28 kDa protein. Partial amino acid sequence of a 13 kDa fragment, obtained after V8 (endo Glu-C) protease treatment, showed identity with CP 26 over a 14 amino acid stretch. EPR measurements on the purified protein suggest oxygen and/or nitrogen as ligands for copper but tend to exclude sulfur. We conclude that the 28 kDa apoprotein of CP 26 from spinach binds one copper per molecule of CP 26. A possible function for this copper protein in the xanthophyll cycle is discussed.Abbreviations CP 26 and CP 29 chlorophyll a/b protein complex 26 and 29 - LHC II light-harvesting chlorophyll a/b protein complex of Photosystem II - SB14 sulfobetaine 14 A preliminary report of these results was presented at the IX Int. Congress on Photosynthesis, Nagoya, Japan, 1992.     

Differential expression of several E2-type ubiquitin carrier protein genes at different developmental stages inArabidopsis thaliana andNicotiana sylvestris

We characterized three genes encoding different E2-type ubiquitin carrier proteins involved in the ubiquitin-mediated proteolytic pathway:UbcAt3 shows homologies to the yeastCDC34 gene andUbcAt4a andUbcAt4b are two different genes homologous to theUbc1/4/5 subfamily in yeast. Their accumulation was analysed and compared with that of the different families encoding polyubiquitins, as well as the monoubiquitin fusion protein, which is considered as a marker for cell division, during various developmental stages including GO/S transition and senescence of higher plant cells. Our results imply that theseUbc genes are under the control of complex mechanisms, and are differentially regulated, but not necessarily co-regulated with ubiquitin genes. Even the closely relatedUbcAt4a andUbcAt4b genes of the same multigene subfamily are controlled by distinct regulatory mechanisms.     

Nanodiamond-promoted white light emission in Eu,Dy, and Cu-containing phosphate glass: quantitative analysis and colorimetric study

A thorough analysis of glass containing Eu₂O₃ and Dy₂O₃, or Eu₂O₃, Dy₂O₃, and CuO melted together with nanodiamond powder was pursued based on measurements of optical absorption, photoluminescence (PL) emission and excitation spectra, and colorimetry. Nanodiamond facilitated the stabilization of Cu⁺ and Eu²⁺ ions with blue-emitting characteristics that, along with yellow-emitting Dy³⁺ and red-emitting Eu³⁺ led to the white light-emitting glass. Novel intensity notations implemented in intensity-based spectral ratios, and difference intensity correlation analysis were proposed for the assessment of PL properties. The chromaticity and correlated colour temperature of the emission were ultimately investigated as a two-parametric problem based on: (1) the different ionic components; and (2) the various excitation wavelengths employed. The optical analysis approach adds to the characterization methods to further fundamental understanding and provide helpful analytical tools for designing materials for tunable white light-emitting devices.