Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A. Received: 3 May 1995 / Revised: 1 August 1995     

A new major histocompatibility complex class I b gene expressed in the mouse blastocyst and placenta

 Because of the role major histocompatibility complex (MHC) class I b molecules may play during mouse embryonic development, we thought it would be interesting to search for additional MHC class I b molecules that might be expressed in preimplantation embryos, and in particular in the trophoblastic lineage. We therefore screened a mouse preimplantation blastocyst cDNA library for MHC class I sequences. This search led to the identification and characterization of a new MHC class I b gene, blastocyst MHC. Sequences identical to the exons and 3′ untranslated region of this gene have been found in many laboratory mouse strains, as well as in the related mouse species Mus spreciligus. The presence of this gene in mouse strains of different MHC class I haplotypes argues that blastocyst MHC is a unique, newly-described gene rather than a new allele of a previously described mouse MHC class I gene. Blastocyst MHC has the structure of an MHC class I b gene, with the six exons characteristic of T-region genes. It is linked to H2-D. The amino acid sequence encoded by this gene maintains all the features of a functional antigen-presentation domain. The blastocyst MHC gene, like the human class I b gene HLA-G, is expressed at the blastocyst stage and in the placenta, and may be the mouse analog for HLA-G. Received: 31 May 1996 / Revised: 19 August 1996     

A new unispiculate species of Bulbostylis (Cyperaceae) from Brazil

Bulbostylis splendens from Brazil is described, illustrated, and compared to a related taxon.     

Inoculum Density-Dependent Mortality and Colonization of the Phyllosphere by Pseudomonas syringae

Pseudomonas syringae inocula containing cell concentrations ranging from 10⁵ to 10⁹ cells per ml were applied to the primary leaves of bean plants. The plants were incubated under conditions of high temperature and illumination and low relative humidity. Bacterial mortality rates and the proportional population decline of the inoculum were lowest at the highest inoculum concentrations. Addition of a high concentration of heat-killed cells to the inoculum containing a low concentration of viable cells significantly reduced both the mortality rate and the proportional population decline of the viable cells. The mechanisms underlying this density-dependent mortality may include cooperative protective effects of extracellular factors, such as bacterial extracellular polysaccharides, and physical protection by neighboring cells. Although epiphytic populations derived from inoculum concentrations of 10⁸ or 10⁹ cells per ml tended toward 10⁶ CFU/g, the presumed carrying capacity of the leaf, populations derived from lower inoculum concentrations never achieved this carrying capacity. Assuming that epiphytic populations of P. syringae reside in discrete protected sites, our results suggest that at low inoculum concentrations, following a period of environmental stress, the number of viable cells may have dropped to zero in some sites; hence, the carrying capacity of the leaf could not be achieved.     

Population characteristics of Gammarus pulex (L.) from five English streams

Gammarus pulex were sampled from five English streams during April 1992. The population density, number of precopula pairs and incidence of parasitic infection were recorded, and the biomass was estimated from subsamples by relating body area to dry weight. Physical and chemical measurements were taken from each stream. The abundance and standing crop biomass differed significantly between streams, probably due to the influence of pollutants or the physical structure of the stream bed. The size of individual G. pulex also differed significantly between streams, although there was no obvious causal explanation for this. Few individuals were visibly parasitised in any of the populations. Males were significantly larger than females, both in precopula pairs and in the general populations. The sex ratio differed between populations and may explain inter-stream differences in the relationship between precopula male and female size.     

H-2T24 and Pema T24: orthologous expressed MHC class Ib genes from mouse and Peromyscus maniculatus

The nucleotide sequence data reported in this paper have been submitted to the GenBank nucleotide sequence database and have been assigned the accession numbers U03104 and L22338.     

Natal philopatry in passerine birds: genetic or ecological influences?

The degree of natal philopatry (the likelihood that individualsbreed at or near their place of origin) can influence the extentof inbreeding in animal populations. Passerine birds have beencited as typically showing high natal philopatry, and natalphilopatry has been proposed as an adaptation to promote optimalinbreeding. A review of published and unpublished studies ofpasserines showed that natal philopatry was typically low, somaintaining a high level of inbreeding appears relatively unimportantfor such birds. Rather, natal philopatry appeared to be morestrongly influenced by ecological factors. Migratory passerineexhibited low natal philopatry compared to resident passerines,as predicted if dispersal costs for young birds are an importantdeterminant of natal philopatry. The erroneous view that natalphilopatry for passerines is generally high has resulted froma reporting bias toward resident species that have sufficientnatal philopatry to study. Natal philopatry was found to beevolutionarily labile; populations of the same species and pairsof closely related species that differed in their degree ofisolation differed considerably in their degree of philopatry.Future studies of natal philopatry should consider both theecological factors that could affect dispersal costs and thereporting biases that influence which data on philopatry tendto be reported.     

Sequential1H-NMR assignments of neurotoxin III from the sea anemoneHeteractis macrodactylus and structural comparison with related toxins

The complete sequence-specific assignment of resonances in the¹H-NMR spectrum of the polypeptide neurotoxin III (Hm III) from the sea anemoneHeteractis macrodactylus is described. Comparison of the chemical shifts and pattern of NOEs for Hm III with those for the related toxin Hp III fromHeteractis paumotensis, which differs only in the substitution of Asn for Tyr at position 11, shows that the overall secondary and tertiary structures are conserved. The largest differences in chemical shift caused by the substitution at position 11 are observed for the NH resonances of Arg-13, Thr-14, Ala-15, Leu-17, and Cys-26. The CH resonances influenced most are those of ASP-6, Gly-9, Leu-17, and Glu-42, while the most affected CH resonances are from Leu-17, Glu-28, and Lys-32. The absence of long-range NOEs to the aromatic ring of Tyr-11 as well as the lack of significant chemical shift effects on residues outside the loop comprising residues 7–16 confirm that this part of the loop makes no long-lived contacts with the rest of the molecule. The deviations from random coil shifts of Hm III are compared with those of the related anemone toxins Hp II, Hp III, and toxin I fromStichodactyla helianthus (Sh I). The similarity in deviations in chemical shift as a function of sequence position for these four toxins emphasizes the overall structural homology among these polypeptides.     

Identification of Products from Oxidation of Uric Acid Induced by Hydroxyl Radicals

The aim of the present study was to separate and characterise products formed by oxidation of uric acid by hydroxyl radicals with a view to probing for these products in vivo in clinical contexts. Aerated solutions of 200 μM uric acid, or its oxidation products, allantoin or parabanic acid, were exposed to gamma radiolysis, (52.0 Gy/min), as a source of HO- radicals, at pH 3.4 and 7.4. Aliquots were taken every 5 minutes for 20 minutes and oxidation products were separated by HPLC and analysed with a diode array detector. Identities of oxidation products were confirmed on the basis of similarity of retention times and absorbance spectra and peak purity parameters of known standards. Hydroperoxides were measured by tri-iodide formation in the 20 minute sample. Exposure of uric acid to such HO fluxes produced a net loss of the parent compound with formation of a complex mixture of products with allantoin and parabanic acid being the predominant products at pH 3.4. The rate of uric acid degradation at physiological pH was slower and the distribution of oxidation products was different. A small but significant amount of uric acid hydroperoxide was detected at both pHs. A mechanism for uric acid oxidation under these conditions is presented.