45,X/46,XXr嵌合体

本文报告一例45,X/46,XXr嵌合体。患者徐××,表型女性,25岁,未婚。继发闭经,因阴蒂肥大而要求入院手术,维持女性。术中发现子宫为幼儿型,小而薄。右侧卵巢和输卵管缺如。左侧圆韧带薄而松弛。左侧输卵管长度正常但很细,卵巢小而薄。     

1,3-Bis(α-aminoisopropyl)benzene, meta-C6H4(CMe2NH2)2: An N,N-bridging and N,C,N-cyclometalating ligand

Saponification of the bis(carbamic acid ester) 1,3-C₆H₄(CMe₂NHCO₂Me)₂ (1), made by the addition of methanol to commercial 1,3-C₆H₄(CMe₂NCO)₂, yielded the meta-phenylene-based bis(tertiary carbinamine) 1,3-C₆H₄(CMe₂NH₂)₂ (2). Dinuclear [{(η⁴-1,5-C₈H₁₂)RhCl}₂{μ-1,3-C₆H₄(CMe₂NH₂)₂}] (3) resulted from the action of 2 on [{(η⁴-1,5-C₈H₁₂)Rh(μ-Cl)}₂] in toluene. Combination of 2 with PdCl₂ or K₂[PdCl₄] gave the dipalladium macrocycle trans,trans-[{μ-1,3-C₆H₄(CMe₂NH₂)₂}₂(PdCl₂)₂] (4) along with cyclometalated [{2,6-C₆H₃(CMe₂NH₂)₂-κN,κC¹,κN′}PdCl] (5). Substitution of PEt₃ for the labile chlorido ligand of 5 afforded [{2,6-C₆H₃(CMe₂NH₂)₂-κN,κC¹, κN′}Pd(PEt₃)]Cl (6). The crystal structures of the following compounds were determined: bis(carbamic acid ester) 1, ligand 2 as its bis(trifluoroacetate) salt [1,3-C₆H₄(CMe₂NH₃)₂](O₂CCF₃)₂, 2 · (HAc_f)₂, complexes 3 and 6, as well as 1,3-C₆H₄(CMe₂OH)₂ (the diol analogue of 2).     

An Hsp70 family chaperone,mortalin/mthsp70/PBP74/Grp75: what,when, and where?

Mortalin/mthsp70/PBP74/Grp75 (called mortalin hereafter), a member of the Hsp70 family of chaperones, was shown to have different subcellular localizations in normal and immortal cells. It has been assigned to multiple subcellular sites and implicated in multiple functions ranging from stress response, intracellular trafficking, antigen processing, control of cell proliferation, differentiation, and tumorigenesis. The present article compiles and reviews information on the multiple sites and functions of mortalin in different organisms. The relevance of its differential distributions and functions in normal and immortal cell phenotypes is discussed.     

The effect of prostaglandins A2,E1,E2,15 methyl E2, 16, 16 dimethyl E2 and F2α on erythropoiesis

Prostaglandins A₂, E₁, E₂, methylated E₂s and F₂α affected erythropoiesis and/or erythropoietin (Ep) production. This action is indicated in the exhypoxic, polycythemic mouse where radioiron incorporations into RBC increased after administration of these compounds. The kidney and liver have been indicated through previous studies, to actively participate in Ep production. By the removal of one of these active sites in a murine system treated with prostaglandins it is shown that a response is reflected in Ep levels. Interference of the action of prostaglandins (PG) is altered by the removal of one of these target sites of Ep production. The erythropoietic responses elicited by PGA₂, E₁, and perhaps the methylated PGE₂s act through the liver whereas PGE₂ may operate through a renal pathway for its response. PGF_2α reveals no effect on erythropoietic activity and is no different than that observed for vehicle-treated controls. The prostaglandins tested appear to act primarily through the kidney or liver but the possibility exists that some yet undetermined organ site may also be involved.     

Tau protein kinase I/GSK-3Β/kinase FA in heparin phosphorylates tau on Ser199, Thr231, Ser235, Ser262, Ser369, and Ser400 sites phosphorylated in Alzheimer disease brain

Previously, tau protein kinase I/glycogen synthase kinase-3/kinase F_A(TPKI/GSK-3/F_A) was identified as a brain microtubule-associated tau kinase possibly involved in the Alzheimer disease-like phosphorylation of tau. In this report, we find that the TPKI/GSK-3/F_A can be stimulated to phosphorylate brain tau up to 8.5 mol of phosphates per mol of protein by heparin, a polyanion compound. Tryptic digestion of³²P-labeled tau followed by high-performance liquid chromatography and high-voltage electrophoresis/thin-layer chromatography reveals 12 phosphopeptides. Phosphoamino acid analysis together with sequential manual Edman degradation and peptide sequence analysis further reveals that TPKI/GSK-3//F_A after heparin potentiation phosphorylates tau on sites of Ser¹⁹⁹, Thr²³¹, Ser²³⁵, Ser²⁶², Ser³⁹⁶, and Ser⁴⁰⁰, which are potential sites abnormally phosphorylated in Alzheimer tau and potent sites responsible for reducing microtubule binding possibly involved in neuronal degeneration. The results provide initial evidence that TPKI/GSK-3/F_A after heparin potentiation may represent one of the most potent systems possibly involved in the abnormal phosphorylation of PHF-tau and neuronal degeneration in Alzheimer disease brains.Abbreviations F_A the activating factor of type 1 protein phosphatase - GSK-3 glycogen synthase kinase-3 - TPKI tau protein kinase I - SDS-PAGE sodium dodecylsulfate-polyacrylamide gel electrophoresis - PHF paired helical filaments - HPLC high-performance liquid chromatography     

Vnd/nkx, ind/gsh, and msh/msx: conserved regulators of dorsoventral neural patterning?

Expression of vnd in ventral, ind in intermediate, and msh in dorsal columns of fly neurectoderm, and of homologous gene families in corresponding domains of vertebrate neurectoderm, suggests that elements of dorsoventral neural patterning have been evolutionarily conserved. However, upstream signaling pathways regulating this columnar gene expression pattern appear to have diverged significantly throughout evolution. In addition, while recent loss-of-function studies in flies and mice indicate that these three genes may have a conserved role in regional specification, there is no obvious conservation of the particular cell fates deriving from corresponding domains. The three-column expression pattern may thus represent a developmental mechanism that is more resistant to evolutionary changes than genetic events upstream or downstream of it.     

Seabird abundance, biomass and prey consumption within Prydz Bay, Antarctica, 1980/1981–1992/1993

Annual observations of seabirds within Prydz Bay, East Antarctica, between the 1980/1981 and 1992/1993 seasons revealed siginificant changes in abundance of the 9 resident and 15 non-resident species. An estimated 4.85 million individual residents and 2.35 million individual non-residents were present each season. For resident and non-resident species, mean abundance was 3.75 and 1.81 birds/km², and mean biomass was 6.67 and 1.70 kg/km², respectively. Based on estimated abundances, the total consumption of marine resources by the seabird community within Prydz Bay ranged from 471,000 to 1.1 million tonnes (mean 752,000±176,000 tonnes) per 6-month summer, or between 2.02 and 4.53 kg/km² per day (mean 3.23±0.76 kg/km² per day). The mean energy flux to the seabird community within Prydz Bay each summer was 3.13*10¹² kJ, (range: 2.0*10¹² kJ–4.4*10¹² kJ), of which 66% went to the resident species. Regional abundance and biomass estimates for resident and non-resident species were both negatively correlated; when the estimated abundance and biomass of resident species were high, those of non-resident species were low. Received: 4 January 1996/Accepted: 3 July 1996     

Solid-state structure of N-o-, N-m-, and N-p-nitrophenyl-2,3,4-tri-O-acetyl-β-d-xylopyranosylamines

Comprehensive structural analyses were performed for N-o-, N-m-, and N-p-nitrophenyl-2,3,4-tri-O-acetyl-β-d-xylopyranosylamines. Single-crystal X-ray diffraction data were collected and revealed that one compound under investigation undergoes temperature-dependent polymorph transitions (crystal structures of three polymorphs were obtained). The number of molecules in the independent part of the crystal unit cells was in agreement with the number of resonances in solid-state ¹³C NMR spectra. Therefore, the compounds exist as single polymorphs at room temperature, as confirmed by powder X-ray diffraction measurements. Significant differences in ¹³C chemical shifts between solution and solid-state NMR for selected carbon atoms confirmed the existence of intra- and/or intermolecular interactions.     

Orpheussp?tter,Hippolais polyglotta, im Saarland

Summary Breeding ofHippolais polyglotta in the Saarland was first recorded in 1984. In 1985 in a general census study 60 territorial were mapped, 10 nests were found, an 62 individuals could be ringed. Records of old nests indicate that breeding of that species in the Saarland has already started before 1985.     

Structures,magnetic properties,and XPS of cyanide-bridged NdIII/SmIII/GdIII–CrIII complexes

Synthesis, structural characterization, and spectroscopic and magnetic properties of three new cyano-bridged 3d–4f bimetallic complexes, Ln^III(DMF)₄(H₂O)₃Cr^III (CN)₆ · nH₂O (Ln = Nd, Sm, Gd), have been described. The Nd–Cr complex crystallizes in the monoclinic P2₁/n space group with the following unit cell parameters: a = 20.063(7) Å, b = 8.967(4) Å, c = 18.023(6) Å, b = 96.12(3)°, V = 3224(2) Å³, and Z = 4. The neodymium (III) ion, which adopts anti-prism eight-coordination environment, is linked to the [Cr^III(CN)₆]³⁻ moiety through a bridging cyanide ligand with Nd–N = 2.550(4) Å and Nd–N–C = 164.4(4)°. The variable-temperature (0.5 T at 2–300 K) and variable-field (0–5 T at 2 and 5 K) magnetic measurements reveal that the weak interaction of Gd–Cr complexes differs from that of Nd–Cr and Sm–Cr ones mainly because of the lack of orbital angular momentum. The XPS and diffuse reflectance electronic spectra were also measured to discuss charge transfer transitions concerning π-backdonation from the viewpoint of magneto-optical functions.     

A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype

Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromosome fragment detected in the investigated animal was the result of a deletion of a euchromatic fragment comprising the above-mentioned markers.     

罕见的45,X/46,XX/47,XX, t(Y;Y)的两性畸形一例报告

由性染色体异常引起的性畸形较为常见。无论是性染色体数目异常、结构异常,纯一的、还是嵌合体,核型多样,临床变异很大。1977年Jean de Grouchy在其总结的人类染色体异常中,罗列有47,XX,i(Yq)/46,XX/45,X的真两性畸形,但与本例45,X/46,XX/47,XX, t(Y;Y)核型和临床表现均不相同。现将其临床和细胞遗传学研究以及病理检查结果报告如下。     

[Hg(μ-4,4′-bipy)(μ-AcO)(AcO)]n · n/2H2O, one-dimensional double-chain coordination polymer, syntheses, characterization, thermal, fluorescence, porous and structural studies

A new Hg^II coordination polymer with 4,4′-bipyridine and acetate anions, [Hg(μ-4,4′-bipy)(μ-AcO)(AcO)]_n · n/2H₂O (1), has been synthesized, characterized by elemental analysis, IR-, ¹H NMR-, ¹³C NMR spectroscopy and its structure determined by single-crystal X-ray diffraction. The thermal stability of compound 1 was studied by thermal gravimetric (TG) and differential thermal analyses (DTA). The structural studies of compound 1 show that the structure may be considered as a coordination polymer of mercury(II) consisting of linear double chains formed by a bridging 4,4′-bipy ligand and by connecting acetate-bridged centrosymmetric {Hg₂(OAc)₂}²⁺ nodes. Solid-state luminescent spectra of the ligand 4,4′-bipyridine and compound 1 indicate a fluorescent broad emission band with the maximum intensity at ca 468.2 and 446.4 nm upon excitation at 295 nm, respectively. The stability of porous network after removal of guest water molecules is not confirmed by X-ray powder diffraction.     

Biosynthesis of 1α,2α,3β-trihydroxy-p-menthane by Fusicoccum amygdali

Measurement of isotope ratios in 1α,2α,3β-trihydroxy-p-menthane, which has been biosynthesized in Fusicoccum amygdali from ³H- and ¹⁴C-labelled mevalonate and in its degradation product diosphenol indicates that: (a) four tritium atoms arising from [5-³H₂, 2-¹⁴C]MVA are retained, one more than suggested from the hydroxylation pattern, (b) menth-2-ene-1-ol is generated from an α-terpinyl cation through a 1,3-hydride shift and (c) trans-cleavage of an α-epoxide by hydrolysis gives 1α,2α,3β-trihydroxy-p-menthane.     

Acute toxicity,critical body residues,Michaelis–Menten analysis of bioaccumulation,and ionoregulatory disturbance in response to waterborne nickel in four invertebrates: Chironomus riparius, Lymnaea stagnalis, Lumbriculus variegatus and Daphnia pulex

We investigated the bioaccumulation and acute toxicity (48 h or 96 h) of Ni in four freshwater invertebrate species in two waters with hardness of 40 (soft water) and 140 mg L^− 1 as CaCO₃ (hard water). Sensitivity order (most to least) was Lymnaea stagnalis > Daphnia pulex > Lumbriculus variegatus > Chironomus riparius. In all cases water hardness was protective against acute Ni toxicity with LC50 values 3–3.5 × higher in the hard water vs. soft water. In addition, higher water hardness significantly reduced Ni bioaccumulation in these organisms suggesting that competition by Ca and Mg for uptake at the biotic ligand may contribute to higher metal resistance. CBR50 values (Critical Body Residues) were less dependent on water chemistry (i.e. more consistent) than LC50 values within and across species by ~ 2 fold. These data support one of the main advantages of the Tissue Residue Approach (TRA) where tissue concentrations are generally less variable than exposure concentrations with respect to toxicity. Whole body Ni bioaccumulation followed Michaelis–Menten kinetics in all organisms, with greater hardness tending to decrease B_max with no consistent effect on K_d. Across species, acute Ni LC50 values tended to increase with both K_d and B_max values — i.e. more sensitive species exhibited higher binding affinity and lower binding capacity for Ni, but there was no correlation with body size. With respect to biotic ligand modeling, log K_NiBL values derived from Ni bioaccumulation correlated well with log K_NiBL values derived from toxicity testing. Both whole body Na and Mg levels were disturbed, suggesting that disruption of ionoregulatory homeostasis is a mechanism of acute Ni toxicity. In L. stagnalis, Na depletion was a more sensitive endpoint than mortality, however, the opposite was true for the other organisms. This is the first study to show the relationship between Na and Ni.     

High-Yield Expression, Purification, and Characterization of Active, SolubleBacteroides fragilisMetallo-β-Lactamase, CcrA

The gene fromBacteroides fragilisencoding a metallo-β-lactamase,ccrA,was expressed inEscherichia coliBL21(DE3) containing the wild-type disulfide bond-catalyzing systemdsbas an active, soluble enzyme in quantities exceeding 100 mg/liter using both rich and minimal media. Both the nonfusion and a glutathioneS-transferase fusion enzyme lacking the periplasmic signal sequence were purified to homogeneity. Characteristics of the purified nonfusion enzyme are shown to be similar to those of the renatured enzyme previously reported. Thermal denaturation studies using circular dichroism and fluorescence spectroscopy show that CcrA undergoes a transition at ∼50°C which corresponds to the transition temperature of catalytic activity. The secondary structure of the protein and the catalytic apparatus are thus intimately linked.     

测定线粒体细胞色素c,c1,b,aa3含量的简单方法

线粒体是细胞中的重要细胞器,能量代谢的主要场所.在呼吸链中,细胞色素c,c_1,b,aa_3起着电子传递中间体的作用,其任何一种含量的减少或缺失将影响细胞的呼吸功能.由于细胞色素是一类带有卟啉环的蛋白质,在可见光区域有明显的吸收,可以利用这一性质进行比色定量。J.N.Williams首先建立了测定线粒体还原-氧化差光谱计算细胞色素含量的方     

一例罕见的46,XY/92, XXYY嵌合体

二倍体广四倍体嵌合体是极为罕见的病例， 1981年11月9日我院收治一例疑有染色体异 常的多发畸形患儿，经外周血培养做染色体检 查，发现为46,XY/92, XXYY嵌合体。