Determination of the probable ontogenic time of action of lethal factors on the second chromosome of Drosophila melanogaster derived from a natural population

From the study of the genetic load of second chromosome factors in a natural population of Drosophila melanogaster, 15 lethal-bearing strains were recovered and maintained in the laboratory balanced against Ins (2L + 2R), Cy, L-4. For each lethal factor, the probable time of action during development was determined by the appearance of a sharp reduction, at any given stage, in the frequency of individuals compared to that expected in the absence of the lethal factor. Carried out in this way, the analysis suggested that seven were embryonic lethals, two larval lethals and three pupal lethals. Additionally, three gave no evidence of affecting any of the above-mentioned stages; these are interpreted as gametic lethals.

Differentiation of Acidithiobacillus ferrooxidans and A-thiooxidans strains based on 16S-23S rDNA spacer polymorphism analysis

Restriction fragment length polymorphism (RFLP) and sequence analyses of the PCR-amplified 16S-23S rDNA intergenic spacer (ITS) were used for differentiating Acidithiobacillus thiooxidans strains from other related acidithiobacilli, including A. ferrooxidans and A. caldus. RFLP fingerprints obtained with AluI, DdeI, HaeIII, HinfI and MspI enabled the differentiation of all Acidithiobacillus reference strains into species groups. The A. thiooxidans strains investigated (metal mine isolates) yielded identical RFLP patterns to the A. thiooxidans type strain (ATCC 19377(T)), except for strain DAMS, which had a distinct pattern for all enzymes tested. Fourteen A. ferrooxidans mine strains were assigned to 3 RFLP groups, the majority of which were grouped with A. ferrooxidans ATCC 23270(T). The spacer region of one representative strain from each of the RFLP groups obtained was subjected to sequence analysis, in addition to eleven additional A. thiooxidans strains isolated from sediment and water samples, and A. caldus DSM 8584(T). The tRNA(IIe) and tRNA(Ala) genes, present in all strains analyzed, showed high sequence similarity. Phylogenetic analysis of the ITS sequences differentiated all three Acidithiobacillus species. Inter- and infraspecific genetic variations detected were mainly due to the size and sequence polymorphism of the ITS3 region. Mantel tests showed no significant correlation between ITS sequence similarity and the geographical origin of strains. The results showed that the 16S-23S rDNA spacer region is a useful target for the development of molecular-based methods aimed at the detection, rapid differentiation and identification of acidithiobacilli. (C) 2004 Elsevier SAS. All rights reserved.

NUCLEOLAR CHROMOSOME VARIANTS IN STERNOPYGUS-MACRURUS (PISCES, STERNOPYGIDAE) FROM 3 BRAZILIAN RIVER BASINS

The karyotypes, location of nucleolus organizer regions (NOR) and constitutive heterochromatin pattern of Sternopygus macrurus (Pisces, Gymnotoidei) of natural populations from the Amazon River, Sao Francisco River and Tiete River (the last belonging to the Upper Parana River system) are reported. All specimens had 2n = 46 chromosomes and presented small differences in karyotypic formulae, but populations of each river basin had a different fixed NOR phenotype. The loss of the satellite and a gradual deletion of the heterochromatin block adjacent to the NOR may be the origin of the variants. The possible mechanism of fixation of the NOR phenotypes, and the implications of the occurrence of intraspecific differences in fixed NOR phenotype in this species are discussed.

Chromosome banding in three species of Brazilian toads (Amphibia-Bufonidae)

The chromosomes of Bufo crucifer, B. ictericus, and B. pamacnemis were studied by conventional staining as well as with C banding and NOR techniques. These species have a diploid number of 2n = 22 and identical karyotypes, composed of metacentric and submetacentric chromosomes. The C banding patterns and NOR data indicate that these species of Bufo are not differentiated by the distribution and amount of constitutive heterochromatin or the position of the nucleolar organizer regions.

Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome

We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS. (C) 2002 Elsevier B.V. Ltd. All rights reserved.

CHROMOSOME-STUDIES IN HYPOPTOPOMATINAE (PISCES, SILURIFORMES, LORICARIIDAE) .2. ZZ ZW SEX-CHROMOSOME SYSTEM, B-CHROMOSOMES, AND CONSTITUTIVE HETEROCHROMATIN DIFFERENTIATION IN MICROLEPIDOGASTER-LEUCOFRENATUS

Cytogenetic analysis of two local populations of microlepidogaster leucofrenatus showed a basic diploid chromosome number (2N) of 54 in both populations. Some fishes were found to have a 2N = 55 or 56 chromosomes due to the presence of one or two large heterochromatic B chromosomes. Specimens of M. leucofrenatus from the Poco Grande stream had 24 metacentrics, 24 submetacentrics, four subtelocentrics, and one submetacentric homomorphic pair in males and one submetacentric/subtelocentric heteromorphic pair in females, whereas individuals of this species from the Marumbi River had 22 metacentrics, 24 submetacentrics, four subtelocentrics, two acrocentrics, and one submetacentric/subtelocentric heteromorphic pair in females. The occurrence of the heteromorphic pair in the females was due to the presence of an extra C-banded segment on the W chromosome. Ag-NORs in both populations were located interstitially on the short arm of the largest metacentric pair. The Poco Grande population had less constitutive heterochromatin than did the Marumbi River population. The speciation process in this fish species is discussed on the basis of heterochromatin distribution.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.

Ribosomal DNA ITS-1 intergenic spacer polymorphism in triatomines (Triatominae, Heteroptera)

The length polymorphism of ribosomal DNA ITS-1 intergenic spacer was analyzed in eight species of triatomines belonging to Triatoma, Rhodnius, and Panstrongylus genera. The analyzed species were Rhodnius domesticus, R. neivai, R. robustus, Triatoma brasiliensis, T. infestans, T. vitticeps, Panstrongylus megistus, and P. herreri. These insects are vectors of Chagas' disease, one of the most prominent public health problems among South American countries. This work allowed the differentiation between species of the Triatomini and Rhodniini tribes through the analysis of ITS-1 length polymorphism by PCR and RFLP techniques. The species of the Triatoma and Panstrongylus genera presented an amplified ITS-1 fragment between 600 and 1000 bp, whereas Rhodnius presented a less variable ITS-1 length fragment, around 300 bp, which could reflect the monophyletic origin of the Rhodniini tribe. Species belonging to this genus were further differentiated by RFLP with HaeIII and AluI endonucleases. Our results corroborate the hypothesis of polyphyletic origin in this group of insects and contribute to knowledge about evolutionary relationships in triatomines.