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| Bonatto,Naieli; Nogaroto,Viviane; Svidnicki,Paulo V.; Milléo,Fábio Q.; Grassiolli,Sabrina; Almeida,Mara C.; Vicari,Marcelo R.; Artoni,Roberto F.. |
| Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MODY3; Molecular diagnosis; Diabetes mellitus; Nucleotide sequencing. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500005 |
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| Traldi,Josiane B.; Lui,Roberto L.; Martinez,Juliana de F.; Vicari,Marcelo R.; Nogaroto,Viviane; Moreira Filho,Orlando; Blanco,Daniel R.. |
| ABSTRACT The transposable elements (TE) have been widely applied as physical chromosome markers. However, in Loricariidae there are few physical mapping analyses of these elements. Considering the importance of transposable elements for chromosomal evolution and genome organization, this study conducted the physical chromosome mapping of retroelements (RTEs) Rex1, Rex3 and Rex6 in seven species of the genus Harttia and four species of the genus Hypostomus, aiming to better understand the organization and dynamics of genomes of Loricariidae species. The results showed an intense accumulation of RTEs Rex1, Rex3 and Rex6 and dispersed distribution in heterochromatic and euchromatic regions in the genomes of the species studied here. The presence of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Armored catfish; Fluorescence in situ hybridization; Hypostominae; Loricariinae; Transposable elements. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-62252019000200214 |
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| Oliveira,Maria Lígia M. de; Utsunomia,Ricardo; Pansonato-Alves,José Carlos; Scacchetti,Priscilla C.; Primo,Cleberson C.; Vicari,Marcelo R.; Artoni,Roberto F.; Centofante,Liano; Moreira-Filho,Orlando; Oliveira,Claudio; Foresti,Fausto. |
| Trichomycterus is a specious fish genus within Trichomycterinae and displays remarkable karyotype diversity. However, knowledge about their genomic structure and location of repetitive sequence is still limited. In order to better understand the karyotype diversification, we analyzed nine species of Trichomycterus using classical and molecular cytogenetic techniques. Results revealed a conserved diploid chromosome number of 2n=54 chromosomes in all analyzed species, although remarkable differences on the constitutive heterochromatin distribution were observed. In addition, while the 18S rDNA showed a conserved distribution pattern, the 5S rDNA sites showed a quite diverse location considering the analyzed species. Remarkably, both ribosomal genes were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Karyotype diversity; Repetitive DNA; RDNA; Supernumerary chromosomes. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-62252016000200211 |
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| Castro,Jonathan P.; Moura,Maurício O.; Moreira-Filho,Orlando; Shibatta,Oscar A.; Santos,Mateus H.; Nogaroto,Viviane; Vicari,Marcelo R.; Almeida,Mara C. de; Artoni,Roberto F.. |
| Two populations of the Astyanax scabripinniscomplex, isolated by a waterfall with over 100 meters depth and inhabiting different altitudes of the same river (1850 m a.s.l. and 662 m a.s.l.) were compared in reproductive data, geometric morphometry, tooth morphology, anal-fin rays counts, and karyotype, in order to test the hypothesis of speciation between the two populations. The results in the geometric morphometry analysis showed differences between the populations. Discriminant function analysis (DFA) and canonical variance analysis revealed sexual dimorphism. Secondary sexual characters, such as hooks in the anal fin rays of the males are absent in the lower altitude population. Both populations had the same macro karyotype structure, except for the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Allopatric populations; Cytogenetics; Evolution; Geometric morphometry; Paraíba do Sul River. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-62252014000200429 |
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| Domingues,Manoela de S.; Vicari,Marcelo R.; Abilhoa,Vinícius; Wamser,João P.; Cestari,Marta M.; Bertollo,Luiz A. C.; Almeida,Mara C. de; Artoni,Roberto F.. |
| The recently described fish species, Astyanax altiparanae (tetra) is common in the upper rio Paraná basin, and has been reported in the Iguaçu basin. However, its natural origin in the rio Iguaçu is questionable. In the present work, karyotypical and morphological features of two populations of Astyanax altiparanae from the upper rio Tibagi and upper rio Iguaçu were compared. Both populations showed 2n=50 chromosomes and differences in their karyotype formula, NOR-bearing chromosomes and location of heterochromatin. Morphometric data from both populations were analyzed through free-size canonical variables. Cytogenetic and morphological results were mostly coincident showing exclusive markers that reflect their degree of populational isolation. In addition... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tetra; Karyotype evolution; Distribution; Morphometry. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-62252007000100005 |
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| Santos,Natália M.; Ferreira-Neto,Maressa; Artoni,Roberto F.; Vicari,Marcelo R.; Bakkali,Mohammed; Oliveira,Claudio de; Foresti,Fausto. |
| Individual samples from five populations of the characid fish Astyanax scabripinnis (Jenyns, 1842) from the Tietê and Paranapanema river basins (Brazil) were studied. All individuals analyzed presented 50 chromosomes but three different karyotypic forms were observed. Additionally, some individuals of one karyomorph presented a macro supernumerary chromosome. No chromosomal differentiation was observed between males and females in any sample analyzed. C-banding revealed two distinct distribution patterns in these populations in which strong terminally located heterochromatic blocks were detected in the long arms of some chromosomes of the specimens from Cascatinha, Cintra, and Funari streams, whereas populations of the Capão Bonito stream and the Barbosa... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Chromosome markers; Karyoevolution; Karyomorphs; Nucleolus organizer region. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-46702012000200008 |
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