Translocation (4;14) and concomitant inv(14) in a basal cell carcinoma

Chromosome analysis of short-term cultures from a basal cell carcinoma was performed. The analyzed karyotypes showed a pseudodiploid clone characterized by a der(4)t(4;14)(p14;p11) and a concomitant inversion of the same chromosome 4 involved in the t(4;14) with the breakpoints at p14 and q25.

Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma.

We have used whole exome sequencing to compare a group of presentation t(4;14) with t(11;14) cases of myeloma to define the mutational landscape. Each case was characterized by a median of 24.5 exonic nonsynonymous single-nucleotide variations, and there was a consistently higher number of mutations in the t(4;14) group, but this number did not reach statistical significance. We show that the transition and transversion rates in the 2 subgroups are similar, suggesting that there was no specific mechanism leading to mutation differentiating the 2 groups. Only 3% of mutations were seen in both groups, and recurrently mutated genes include NRAS, KRAS, BRAF, and DIS3 as well as DNAH5, a member of the axonemal dynein family. The pattern of mutation in each group was distinct, with the t(4;14) group being characterized by deregulation of chromatin organization, actin filament, and microfilament movement. Recurrent RAS pathway mutations identified subclonal heterogeneity at a mutational level in both groups, with mutations being present as either dominant or minor subclones. The presence of subclonal diversity was confirmed at a single-cell level using other tumor-acquired mutations. These results are consistent with a distinct molecular pathogenesis underlying each subgroup and have important impacts on targeted treatment strategies. The Medical Research Council Myeloma IX trial is registered under ISRCTN68454111.

A genome-wide screen for susceptibility loci in ankylosing spondylitis

Objective. To localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS). Methods. One hundred five white British families with 121 affected sibling pairs with AS were recruited, largely from the Royal National Hospital for Rheumatic Diseases AS database. A genome-wide linkage screen was undertaken using 254 highly polymorphic microsatellite markers from the Medical Research Council (UK) (MRC) set. The major histocompatibility complex (MHC) region was studied more intensively using 5 microsatellites lying within the HLA class III region and HLA-DRB1 typing. The Analyze package was used for 2-point analysis, and GeneHunter for multipoint analysis. Results. When only the MRC set was considered, 11 markers in 7 regions achieved a P value of ≤0.01. The maximum logarithm of odds score obtained was 3.8 (P = 1.4 x 10-5) using marker D6S273, which lies in the HLA class III region. A further marker used in mapping of the MHC class III region achieved a LOD score of 8.1 (P = 1 x 10-9). Nine of 118 affected sibling pairs (7.6%) did not share parental haplotypes identical by descent across the MHC, suggesting that only 31% of the susceptibility to AS is coded by genes linked to the MHC. The maximum non-MHC LOD score obtained was 2.6 (P = 0.0003) for marker D16S422. Conclusion. The results of this study confirm the strong linkage of the MHC with AS, and provide suggestive evidence regarding the presence and location of non-MHC genes influencing susceptibility to the disease.

Cloning and expression of a human kidney cDNA for an alpha 2-adrenergic receptor subtype.

An alpha 2-adrenergic receptor subtype has been cloned from a human kidney cDNA library using the gene for the human platelet alpha 2-adrenergic receptor as a probe. The deduced amino acid sequence resembles the human platelet alpha 2-adrenergic receptor and is consistent with the structure of other members of the family of guanine nucleotide-binding protein-coupled receptors. The cDNA was expressed in a mammalian cell line (COS-7), and the alpha 2-adrenergic ligand [3H]rauwolscine was bound. Competition curve analysis with a variety of adrenergic ligands suggests that this cDNA clone represents the alpha 2B-adrenergic receptor. The gene for this receptor is on human chromosome 4, whereas the gene for the human platelet alpha 2-adrenergic receptor (alpha 2A) lies on chromosome 10. This ability to express the receptor in mammalian cells, free of other adrenergic receptor subtypes, should help in developing more selective alpha-adrenergic ligands.

Differential staining and microchromosomal variation in karyotypes of four Brazilian species of Tupinambinae lizards (Squamata : Teiidae)

Kayotypes of four neotropical teiid lizard species (Tupinambinae) were herein studied after conventional as well as silver staining and CBG-banding: Crocodilurus amazonicus (2n = 34), Tupinambis teguixin (2n = 36), Tupinambis merianae and Tupinambis quadrilineatus (2n = 38). The karyological data for T. quadrilineatus as well as those obtained using differential staining for all species were unknown until now. The karyotypes of all species presented 12 macrochromosomes identical in morphology, but differed in the number of microchromosomes: 22 in C. amazonicus, 24 in T. teguixin and 26 in T. quadrilineatus and T. merianae. The Ag-NOR located at the secondary constriction at the distal end of pair 2 is shared by all species, contrasting with the variability observed for this character in species of the related Teiinae. CBG-banding revealed a species-specific pattern in T. quadrilineatus with conspicuous interstitial C-blocks at the proximal region of the long arm of pair 4 and the whole heterochromatic short arm of pair 6. The karyological data reported here corroborates the relationship hypothesis obtained for Tupinambis based on molecular characters. T. teguixin presents the putative ancestral karyotype for the genus with 2n = 36 whereas T. merianae and T. quadrilineatus exhibit 2n = 38, due to an additional pair of microchromosomes.

Atividade de quitinases e peroxidases em folhas de eucalipto em diferentes estágios de desenvolvimento após tratamento com acibenzolar-S-metil (ASM) e inoculação com Puccinia psidii

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Chromosomes of Theridiidae spiders (Entelegynae): interspecific karyotype diversity in Argyrodes and diploid number intraspecific variability in Nesticodes rufipes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Cytogenetics of a new species of Paratelmatobius cardosoi group (Anura : Leptodactylidae), with the description of an apparent case of pericentric inversion

The karyotype of a new species of Paratelmatobius from the P cardosoi group is described. As with other Paratelmatobius and Scythrophrys karyotypes, Paratelmatobius sp. (aff. cardosoi) shows a diploid number of 24 chromosomes, in addition to other similarities with the former karyotypes. The Paratelmatobius sp. (aff. cardosoi) karyotype differs from that of P. cardosoi in the morphology of pair 4, the NOR location and the C-bands in pairs 3 and 8 (exclusive to Paratelmatobius sp.) and those of pairs 7 and 9 (exclusive to P. cardosoi). Both karyotypes also differ in the amount of heterochromatin in pair 1. The presence of interstitial heterochromatin in the long arm of pair 1 and the interstitial C-bands in both arms of chromosome 5 are apparently synapomorphic characters of P. cardosoi and Paratelmatobius sp. (aff. cardosoi), since they are absent in the other Paratelmatobius and Scythrophrys karyotypes. In Paratelmatobius sp. (aff. cardosoi), the nucleolus organizer region is on the short arm of a small metacentric chromosome (pair 9), an arrangement similar to the NOR-bearing chromosome pair in the karyotype of P. poecilogaster and in karyotype 11 of Scythrophrys. A conspicuous heteromorphism unrelated to the sex determining mechanism was also observed and probably arose from a pericentric inversion.

A Cytotaxonomic Survey of the Genus Melanophryniscus Gallardo, 1961 (Anura: Bufonidae)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Cariótipo de seis espécies de Bokermannohyla dos grupos de B. circumdata e B. pseudopseudis (Anura, Hylidae)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Constitutive heterochromatin and nucleolus organizer region in the knifefish, Apteronotus albifrons (Pisces, Apteronotidae)

The C-banding and silver staining of the chromosomes of the knifefish Apteronotus albifrons (2n=24), demonstrated the presence of constitutive heterochromatin in the centromeric region of every chromosome, except pair 4, where the entire long arm was darkly stained, the silver stain positive nucleolus organizer region (NOR) being embedded in it. © 1981 Birkhüuser Verlag.

Anion-pi, Lone-Pair-pi, pi-pi and Hydrogen-Bonding Interactions in a Cu-II Complex of 2-Picolinate and Protonated 4,4 '-Bipyridine: Crystal Structure and Theoretical Studies

A Cu-II complex of protonated 4,4'-bipyridine (Hbyp) and 2-picolinate (pic), [Cu-2(pic)(3)(Hbyp)(H2O)(ClO4)(2)], has been synthesised and characterised by single-crystal X-ray analysis. The structure consists of two copper atoms that have different environments, bridged by a carboxylate group. The equatorial plane is formed by the two bidentate picolinate groups in one Cu-II, and one picolinate, one monodentate 4,4'-bipyridyl ligand and a water molecule in the other. Each copper atom is also weakly bonded to a perchlorate anion in an axial position. One of the coordinated perchlorate groups displays anion-pi interaction with the coordinated pyridine ring. The noncoordinated carboxylate oxygen is involved in lone-pair (l.p.)-pi interaction with the protonated pyridine ring. In addition there are pi-pi and H-bonding interactions in the structure. Bader's theory of "atoms in molecules" (AIM) is used to characterise the anion-pi and l.p.-pi interactions observed in the solid state. A high-level ab initio study (RI-MP2/aug-cc-pVTZ level of theory) has been performed to analyse the anion-pi binding affinity of the pyridine ring when it is coordinated to a transition metal and also when the other pyridine ring of the 4,4'-bipyridine moiety is protonated. Theoretical investigations support the experimental findings of an intricate network of intermolecular interactions, which is characterised in the studied complex, and also indicate that protonation as well as coordination to the transition metal have important roles in influencing the pi-binding properties of the aromatic ring. ((C) Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2009)