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INTRODUCTION: Rhipidomys is the second most specious and the most widespread genus of the tribe Thomasomyini. Chromosomal data have been an important tool in the taxonomy of the group that presents low variability of diploid number (2n) and highly variable fundamental numbers (FNs). Despite such diversity, the genus has been studied mainly by classical and banding cytogenetic techniques. METHODS: This study performed a comparative study between R. emiliae (2n = 44, FN = 52), R. macrurus (2n = 44, FN = 49), R. nitela (2n = 50, FN = 71), and R. mastacalis (2n = 44, FN = 72) using chromosome painting probes of two Oryzomyini species. RESULTS: Our analysis revealed pericentric inversion as the main rearrangement involved in the karyotype evolution of the group, although tandem fusions/fissions were also detected. In addition, we detected eight syntenic associations exclusive of the genus Rhipidomys, and three syntenic associations shared between species of the tribe Thomasomyini and Oryzomyini. CONCLUSION: Comparative cytogenetic analysis by ZOO-FISH on genus Rhipidomys supports a pattern of chromosomal rearrangement already suggested by comparative G-banding. However, the results suggest that karyotype variability in the genus could also involve the occurrence of an evolutionary new centromere.
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Repetitive DNA are sequences repeated hundreds or thousands of times and an abundant part of eukaryotic genomes. SatDNA represents the majority of the repetitive sequences, followed by transposable elements. The species Holochilus nanus (HNA) belongs to the rodent tribe Oryzomyini, the most taxonomically diverse of Sigmodontinae subfamily. Cytogenetic studies on Oryzomyini reflect such diversity by revealing an exceptional range of karyotype variability. However, little is known about the repetitive DNA content and its involvement in chromosomal diversification of these species. In the search for a more detailed understanding about the composition of repetitive DNA on the genome of HNA and other species of Oryzomyini, we employed a combination of bioinformatic, cytogenetic and molecular techniques to characterize the repetitive DNA content of these species. RepeatExplorer analysis showed that almost half of repetitive content of HNA genome are composed by Long Terminal Repeats and a less significant portion are composed by Short Interspersed Nuclear Elements and Long Interspersed Nuclear Elements. RepeatMasker showed that more than 30% of HNA genome are composed by repetitive sequences, with two main waves of repetitive element insertion. It was also possible to identify a satellite DNA sequence present in the centromeric region of Oryzomyini species, and a repetitive sequence enriched on the long arm of HNA X chromosome. Also, comparative analysis between HNA genome with and without B chromosome did not evidence any repeat element enriched on the supernumerary, suggesting that B chromosome of HNA is composed by a fraction of repeats from all the genome.
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Arvicolinae , Sigmodontinae , Animales , Ratas , Sigmodontinae/genética , Arvicolinae/genética , Humedales , Secuencias Repetitivas de Ácidos Nucleicos/genética , Cariotipo , ADN Satélite/genética , Elementos Transponibles de ADN/genéticaRESUMEN
Oryzomyini represents the most diverse and speciose tribe of subfamily Sigmodontinae, with 29 genera and about 141 species. This great diversity of species is distributed from southeastern North to southern South America. Its systematics have passed through major changes in the last years due to the integration of molecular data with morphological characters in phylogenetic inferences. Unsurprisingly, cytogenetic studies on Oryzomyini reflect such diversity, with chromosome diploid number varying from 2n = 16 to 2n = 88. In addition, some species present autosomal and sex chromosome polymorphisms, besides the presence of B chromosomes. However, despite decades of cytogenetic studies, our knowledge about the karyotype variability in this group were still poorly known. Considering such deep and profound changes on the tribe, along with important new evidence that was continuously being produced associated to field work in several areas of Brazil and South America, we performed a cytogenetic review of the Oryzomyini group. We provide standardized descriptions summarizing all the knowledge associated to the known species of the tribe. We also describe seven new karyotypes for the tribe, Euryoryzomys sp., 2n = 58 and FN = 92; Neacomys sp. 1, 2n = 48 and FN = 54; Neacomys sp. 2, 2n = 54 and FN = 62; Oecomys sp. 1, 2n = 54 and FN = 84; Oecomys sp. 2, 2n = 64 and FN = 92; Oecomys sp. 3, 2n = 84 and FN = 110; and Scolomys sp., 2n = 62 and FN = 80.
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Arvicolinae , Sigmodontinae , Animales , Pintura Cromosómica , Cariotipo , Filogenia , Roedores , Sigmodontinae/genética , Especificidad de la EspecieRESUMEN
A series of highly efficient adsorbents were developed using Ni3(BTC)2 and Co3(BTC)2 metal-organic frameworks (MOFs) and Fe3O4 magnetic nanoparticles (MNPs) to functionalize graphene oxide (GO). XRD results show high crystallinity of the prepared nanomaterials and the successful decoration of Ni3(BTC)2 and Co3(BTC)2 MOFs over the GO substrate (BTC = benzene-1,3,5-tricarboxylic acid). SEM and TEM imaging show the successful formation of nanoscale MOFs and Fe3O4 MNPs over GO. IR spectroscopy supports the characterization and successful preparation of the Fe3O4/MOF@GO hybrid composite nanoadsorbents. The prepared composite nanoadsorbents were used to sorb Methylene Blue (MB) as a model for common organic pollutants in water and common ions (Na+, Ca2+, Mg2+, SO42-, SiO32-) from a brackish water model. The adsorbed concentration at equilibrium of MB of the prepared composite nanoadsorbents increases by an average of 30.52 and 13.75 mg/g for the Co and Ni composite, respectively, when compared to the MOFs parent materials. The adsorbed amount of sulfate ions increases by 92.1 mg/g for the Co composite and 112.1 mg/g for the Ni composite, when compared to graphene oxide. This adsorption enhancement is attributed to suppressed aggregation through increased dispersive forces in the MOFs due to the presence of GO, formation of nanoscale MOFs over the GO platform, and the hindering of stacking of the graphene layers by the MOFs. Leaching tests show that the release of Co and Ni ions to water is reduced from 105.2 and 220 mg/L, respectively, in the parent MOF materials to 0.5 and 16.4 mg/L, respectively, in the composite nanoadsorbents. These findings show that the newly developed composite nanoadsorbents can sorb organic pollutants, and target sulfate and silicate anions, which makes them suitable candidates for water and wastewater treatments.
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Heterogeneous supernumerary chromosomes (Bs) are recognized in the oryzomyines Holochilus brasiliensis, Nectomys rattus, N. squamipes, Oligoryzomys flavescens and Sooretamys angouya, representing about 10% of all known B-containing rodent species. They provide an outstanding model for understanding the origin, evolution and diversity of Bs in a phylogenetic context. Therefore, whole chromosome-specific probes were generated from flow-sorted Holochilus brasiliensis (HBR) autosomes 11 and 25+26 and chromosomes X, Y and Bs. Hybridizations were performed on male metaphases of 15 Oryzomyini species of which 3 are B-containing species. The results reveal that among the species sampled, 12 of them, belonging to a monophyletic Oryzomiyini subclade, are positive for an anonymous Oryzomyini shared heterochromatic region (OSHR) on both sex chromosomes. The OSHR is also present on Bs of Holochilus brasiliensis, Nectomys rattus and N. squamipes but not on Bs of O. flavescens and S. angouya. Two distinct additional OSHR/autosome associations are observed on S. angouya. The three species that are OSHR negative belong to an outgroup. Molecular dating suggests that the OSHR originated between 7.8 and 3 Mya on ancestral sex chromosomes. A tentative explanation for the OSHR-positive nature of B regions in three species could be that transposable elements (TEs) from this specific sex chromosome region may have invaded existing B chromosomes. The presence of the OSHR on entire Xp and Yp adjacent to interstitial telomeric sequences at pericentromeric positions, as observed in Drymoreomys albimaculatus, show a similar organization as on B chromosomes in Nectomys squamipes. The diversity of the Oryzomyini Bs in number, size, morphology and genetic content may be explained by the independent origin of B chromosomes in different subgroups of species, with Bs in Holochilus brasiliensis, Nectomys squamipes and N. rattus sharing the OSHR with sex chromosomes, and those in Oligoryzomys flavescens and Sooretamys angouya lacking OSHR in Bs. The species-specific pattern of Bs is probably a consequence of their independent evolutionary origin.
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Cromosomas/genética , Evolución Molecular , Filogenia , Cromosomas Sexuales/genética , Animales , Elementos Transponibles de ADN/genética , Femenino , Humanos , Masculino , Ratas , Roedores/genética , Sigmodontinae/genética , Especificidad de la EspecieRESUMEN
Oligoryzomys belongs to the tribe Oryzomyini, and contains about 22 species. Diploid numbers range from 2n = 44 in Oligoryzomys sp. 2 to 2n = 72 in O. utiaritensis and phylogenetic relationships are not well defined. The high morphological convergence leads to misidentification of taxonomic entities and the species are often identified by chromosomal characters. Until now, the genus has been studied only by classical cytogenetic approaches. To understand the chromosomal evolution of Oligoryzomys, we developed chromosome probes from a female of Oligoryzomys moojeni (OMO) with 2n = 70 and hybridized to other five Oligoryzomys species. The probes painted 31 segments on O. fornesi (OFO) with 2n = 62; 32 segments on O. microtis (OMI), 2n = 64; 33 segments on O. nigripes (ONI), 2n = 62 and on O. rupestris (ORU), 2n = 46; and 34 on Oligoryzomys sp. 2 (OSP), 2n = 44. OMO probes 4 and 5 showed a syntenic association in O. fornesi, O. microtis and O. nigripes and were also presented in the same pair, although disrupted, in O. rupestris and Oligoryzomys sp. 2. Concerning O. rupestris and Oligoryzomys sp. 2, species with the lowest diploid numbers of the genus, a total of 8 probes hybridized to 11 segments on the largest pair of ORU 1 and 9 probes hybridized to 12 segments on OSP 1. Also, OMO 6 painted three segments in ORU, corresponding to the proximal segment of ORU 2q, and the whole of ORU 19 and 20. In OSP, the segment corresponding to ORU 20 was homologous to OSP 1p. OMO X showed signals of hybridization in both X and Y chromosomes. Extensive chromosomal rearrangements, that could not be detected by classical cytogenetic techniques, such as pericentric inversions or repositioning of centromeres, Robertsonian rearrangements and tandem fusions/fissions, as well as gain/activation or loss/inactivation of centromeres and telomeric sequences have driven the huge genome reshuffling in these closely related species.
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Pintura Cromosómica/métodos , Cromosomas de los Mamíferos/genética , Evolución Molecular , Sigmodontinae/genética , Animales , Brasil , Centrómero/genética , Aberraciones Cromosómicas , Bandeo Cromosómico , Diploidia , Femenino , Geografía , Cariotipificación , Masculino , Filogenia , Sigmodontinae/clasificación , Especificidad de la Especie , Telómero/genéticaRESUMEN
Variable-temperature magnetic and structural data of two pairs of diruthenium isomers, one pair having an axial ligand and the formula Ru2(DArF)4Cl (where DArF is the anion of a diarylformamidine isomer and Ar = p-anisyl or m-anisyl) and the other one being essentially identical but devoid of axial ligands and having the formula [Ru2(DArF)4]BF4, show that the axial ligand has a significant effect on the electronic structure of the diruthenium unit. Variable temperature crystallographic and magnetic data as well as density functional theory calculations unequivocally demonstrate the occurrence of π interactions between the p orbitals of the chlorine ligand and the π* orbitals in the Ru2(5+) units. The magnetic and structural data are consistent with the existence of combined ligand σ/metal σ and ligand pπ/metal-dπ interactions. Electron paramagnetic resonance data show unambiguously that the unpaired electrons are in metal-based molecular orbitals.
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Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles. We assessed pretest attitudes about potentially carrying the FMR1 premutation (FXP) (>55 CGG repeats) among reproductive age women compared with attitudes after learning their non-carrier status. Ninety-two women with DOR, regular menses and no family history of Fragile X Syndrome underwent FMR1 testing and completed attitudinal questionnaires before (T1) and 3 months after learning the test results (T2). The analysis utilized signed rank tests and α = 0.05. Very few women thought they were likely to have a FXP (6.6%). More participants thought FMR1 premutations were "serious" at T2 (62.9%) than at T1 (46.1%, p < 0.0003). When asked at T1 to "describe your feelings when you consider that you are potentially a carrier" of a FXP, 10% had negative feelings, 50% felt ambivalent, and 40% had positive feelings. At T2, feelings about not being a carrier were significantly more favorable (p < 0.0001): negative (0%), ambivalent (6.5%), positive (93%). Corroborating prior reports, few women had a negative view of FXP, perhaps anticipating that carrying the FXP explains their infertility. Perception of the seriousness of FXP increased after learning they did not carry the FXP, which would be predicted by health belief models.
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Actitud Frente a la Salud , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Reserva Ovárica/genética , Insuficiencia Ovárica Primaria/genética , Adulto , Alelos , Femenino , Humanos , Insuficiencia Ovárica Primaria/psicología , Encuestas y Cuestionarios , Adulto JovenRESUMEN
The karyotype of the big-headed Amazon River turtle, Peltocephalus dumerilianus, is characterized based on a sample of seven juveniles from Reserva Biológica do Rio Trombetas, Pará State, Brazil (1°30' S, 56°34' W). Here we present the first results on GTG and CBG-banding patterns, Ag-NOR staining and FISH, with telomeric and 45S rDNA sequences as probes. A cytogenetic comparison with related Podocnemidae is also provided.
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About 10 % of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5 % will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27-50 CGG repeats). For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications.
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Síndrome del Cromosoma X Frágil/diagnóstico , Mutación , Adulto , Femenino , Síndrome del Cromosoma X Frágil/genética , Humanos , Entrevistas como Asunto , Estudios LongitudinalesRESUMEN
Pseudoryzomys simplex, the false rice rat, is a monotypic genus of the Oryzomyini tribe (Sigmodontinae) distributed in part of Bolivia, Paraguay, Argentina and Brazil. Its diploid number has been described as 56 acrocentric chromosomes decreasing in size and no karyotype figure has been depicted. Herein, we present karyotypic data on P. simplex, including chromosome banding and molecular fluorescent in situ hybridization using telomeric sequences and the whole X-chromosome of its sister clade Holochilus brasiliensis (HBR) as probes. A case of remarkable autosomal heteromorphism due to the presence of a whole heterochromatic arm leading to the variability of FN is reported, as well as the occurrence of regions of homology between the X and Y chromosomes (pseudoautosomal regions) after chromosome painting with the HBR X probe on P. simplex metaphases.
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The Akodontini is the second most speciose tribe of sigmodontine rodents, one of the most diverse groups of neotropical mammals. Molecular phylogenetic analyses are discordant regarding the interrelationships of genera, with low support for some clades. However, two clades are concordant, one (clade A) with Akodon sensu strictu (excluding Akodon serrensis), "Akodon" serrensis, Bibimys, Deltamys, Juscelinomys, Necromys, Oxymycterus, Podoxymys, Thalpomys and Thaptomys, and another (clade B) with Blarinomys, Brucepattersonius, Kunsia, Lenoxus and Scapteromys. Here, we present chromosome painting using Akodon paranaensis (APA) Y paint, after suppression of simple repetitive sequences, on ten Akodontini genera. Partial Y chromosome homology, in addition to the homology already reported on the Akodon genus, was detected on the Y chromosomes of "A." serrensis, Thaptomys, Deltamys, Necromys and Thalpomys and on Y and X chromosomes in Oxymycterus. In Blarinomys, Brucepattersonius, Scapteromys and Kunsia, no APA Y signal was observed using different hybridization conditions; APA X paint gave positive signals only on the X chromosome in all genera. The Y chromosome homology was variable in size and positioning among the species studied as follow: (1) whole acrocentric Y chromosome in Akodon and "A." serrensis, (2) Yp and pericentromeric region in submetacentric Y of Necromys and Thaptomys, (3) pericentromeric region in acrocentric Y of Deltamys, (4) distal Yq in the acrocentric Y chromosome of Thalpomys and (5) proximal Yq in the acrocentric Y and Xp in the basal clade A genus Oxymycterus. The results suggest that the homology involves pairing (pseudoautosomal) and additional regions that have undergone rearrangement during divergence. The widespread Y homology represents a phylogenetic signal in Akodontini that provides additional evidence supporting the monophyly of clade A. The findings also raise questions about the evolution of the pseudoautosomal region observed in Oxymycterus. The Y chromosomes of these closely related species seem to have undergone dynamic rearrangements, including restructuring and reduction of homologous segments. Furthermore, the changes observed may indicate progressive attrition of the Y chromosome in more distantly related species.
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Filogenia , Sigmodontinae/genética , Cromosoma Y , Animales , Pintura Cromosómica , Cariotipificación , Sigmodontinae/clasificación , Cromosoma Y/ultraestructuraRESUMEN
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P < 0.0005) between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. Mutations in TSEN54 are clinically associated with dyskinesia and/or dystonia and variable degrees of spasticity, in some cases with pure generalized spasticity. Nonsense or splice site mutations in TSEN54 are associated with a more severe phenotype of more perinatal symptoms, ventilator dependency and early death. In addition, we present ten new mutations in TSEN54, TSEN2 and RARS2. Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations.
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Arginino-ARNt Ligasa/genética , Encéfalo/patología , Endorribonucleasas/genética , Adolescente , Distribución de Chi-Cuadrado , Niño , Preescolar , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Lactante , Imagen por Resonancia Magnética , Masculino , Mutación , Atrofias Olivopontocerebelosas/genética , Atrofias Olivopontocerebelosas/patologíaRESUMEN
A novel karyotype with 2n = 50, FN = 48, was described for specimens of Thaptomys collected at Una, State of Bahia, Brazil, which are morphologically indistinguishable from Thaptomys nigrita, 2n = 52, FN = 52, found in other localities. It was hence proposed that the 2n = 50 karyotype could belong to a distinct species, cryptic of Thaptomys nigrita, once chromosomal rearrangements observed, along with the geographic distance, might represent a reproductive barrier between both forms. Phylogenetic analyses using maximum parsimony and maximum likelihood based on partial cytochrome b sequences with 1077 bp were performed, attempting to establish the relationships among the individuals with distinct karyotypes along the geographic distribution of the genus; the sample comprised 18 karyotyped specimens of Thaptomys, encompassing 15 haplotypes, from eight different localities of the Atlantic Rainforest. The intra-generic relationships corroborated the distinct diploid numbers, once both phylogenetic reconstructions recovered two monophyletic lineages, a northeastern clade grouping the 2n = 50 and a southeastern clade with three subclades, grouping the 2n = 52 karyotype. The sequence divergence observed between their individuals ranged from 1.9% to 3.5%.
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A novel karyotype with 2n = 50, FN = 48, was described for specimens of Thaptomys collected at Una, State of Bahia, Brazil, which are morphologically indistinguishable from Thaptomys nigrita, 2n = 52, FN = 52, found in other localities. It was hence proposed that the 2n = 50 karyotype could belong to a distinct species, cryptic of Thaptomys nigrita, once chromosomal rearrangements observed, along with the geographic distance, might represent a reproductive barrier between both forms. Phylogenetic analyses using maximum parsimony and maximum likelihood based on partial cytochrome b sequences with 1077 bp were performed, attempting to establish the relationships among the individuals with distinct karyotypes along the geographic distribution of the genus; the sample comprised 18 karyotyped specimens of Thaptomys, encompassing 15 haplotypes, from eight different localities of the Atlantic Rainforest. The intra-generic relationships corroborated the distinct diploid numbers, once both phylogenetic reconstructions recovered two monophyletic lineages, a northeastern clade grouping the 2n = 50 and a southeastern clade with three subclades, grouping the 2n = 52 karyotype. The sequence divergence observed between their individuals ranged from 1.9 percent to 3.5 percent.
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Traditionally comparative cytogenetic studies are based mainly on banding patterns. Nevertheless, when dealing with species with highly rearranged genomes, as in Akodon species, or with other highly divergent species, cytogenetic comparisons of banding patterns prove inadequate. Hence, comparative chromosome painting has become the method of choice for genome comparisons at the cytogenetic level since it allows complete chromosome probes of a species to be hybridized in situ onto chromosomes of other species, detecting homologous genomic regions between them. In the present study, we have explored the highly rearranged complements of the Akodon species using reciprocal chromosome painting through species-specific chromosome probes obtained by chromosome sorting. The results revealed complete homology among the complements of Akodon sp. n. (ASP), 2n = 10; Akodon cursor (ACU), 2n = 15; Akodon montensis (AMO), 2n = 24; and Akodon paranaensis (APA), 2n = 44, and extensive chromosome rearrangements have been detected within the species with high precision. Robertsonian and tandem rearrangements, pericentric inversions and/or centromere repositioning, paracentric inversion, translocations, insertions, and breakpoints, where chromosomal rearrangements, seen to be favorable, were observed. Chromosome painting using the APA set of 21 autosomes plus X and Y revealed eight syntenic segments that are shared with A. montensis, A. cursor, and ASP, and one syntenic segment shared by A. montensis and A. cursor plus five exclusive chromosome associations for A. cursor and six for ASP chromosome X, except for the heterochromatin region of ASP X, and even chromosome Y shared complete homology among the species. These data indicate that all those closely related species have experienced a recent extensive process of autosomal rearrangement in which, except for ASP, there is still complete conservation of sex chromosomes homologies.
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Cromosomas , Diploidia , Roedores/genética , Animales , Arvicolinae/genética , Evolución Biológica , Aberraciones Cromosómicas , Pintura Cromosómica , Femenino , Cariotipificación , Masculino , Cromosomas SexualesRESUMEN
BACKGROUND: The thin-spined porcupine, also known as the bristle-spined rat, Chaetomys subspinosus (Olfers, 1818), the only member of its genus, figures among Brazilian endangered species. In addition to being threatened, it is poorly known, and even its taxonomic status at the family level has long been controversial. The genus Chaetomys was originally regarded as a porcupine in the family Erethizontidae, but some authors classified it as a spiny-rat in the family Echimyidae. Although the dispute seems to be settled in favor of the erethizontid advocates, further discussion of its affinities should be based on a phylogenetic framework. In the present study, we used nucleotide-sequence data from the complete mitochondrial cytochrome b gene and karyotypic information to address this issue. Our molecular analyses included one individual of Chaetomys subspinosus from the state of Bahia in northeastern Brazil, and other hystricognaths. RESULTS: All topologies recovered in our molecular phylogenetic analyses strongly supported Chaetomys subspinosus as a sister clade of the erethizontids. Cytogenetically, Chaetomys subspinosus showed 2n = 52 and FN = 76. Although the sexual pair could not be identified, we assumed that the X chromosome is biarmed. The karyotype included 13 large to medium metacentric and submetacentric chromosome pairs, one small subtelocentric pair, and 12 small acrocentric pairs. The subtelocentric pair 14 had a terminal secondary constriction in the short arm, corresponding to the nucleolar organizer region (Ag-NOR), similar to the erethizontid Sphiggurus villosus, 2n = 42 and FN = 76, and different from the echimyids, in which the secondary constriction is interstitial. CONCLUSION: Both molecular phylogenies and karyotypical evidence indicated that Chaetomys is closely related to the Erethizontidae rather than to the Echimyidae, although in a basal position relative to the rest of the Erethizontidae. The high levels of molecular and morphological divergence suggest that Chaetomys belongs to an early radiation of the Erethizontidae that may have occurred in the Early Miocene, and should be assigned to its own subfamily, the Chaetomyinae.
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Filogenia , Puercoespines/clasificación , Puercoespines/genética , Animales , Cromosomas de los Mamíferos/genética , Citocromos b/genética , ADN Mitocondrial/genética , Evolución Molecular , Femenino , Cariotipificación , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' future preferences. METHOD: Patients underwent non-directive genetic counselling and were offered FTS or IS. Prior to undergoing nuchal translucency (NT) ultrasound, patients were given surveys. These questionnaires were repeated in the second trimester and postpartum. They focussed on the patients' background, motivations for screening and anxiety level. RESULTS: Out of 110 patients surveyed, 81 returned their initial questionnaire. 60% of these patients chose FTS and 40% chose IS. There were no demographic differences between the groups. FTS patients desired early reassurance while IS patients wanted the 'most information' and the lowest chance of needing diagnostic testing. In all, 47 women returned second trimester questionnaires and 35 women returned postpartum surveys. These surveys demonstrated that women's motivations remained constant over time. Of the five screen positive results, only one woman regretted her screening choice. CONCLUSION: One cannot predict patients' screening preferences, thus both FTS and IS should be offered. Given non-directive counselling, patients are generally satisfied with their screening choices.
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Satisfacción del Paciente , Diagnóstico Prenatal/métodos , Adulto , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Femenino , Asesoramiento Genético , Humanos , Persona de Mediana Edad , Medida de Translucencia Nucal/métodos , Embarazo , Primer Trimestre del Embarazo , Proteína Plasmática A Asociada al Embarazo/análisis , Diagnóstico Prenatal/psicología , Ultrasonografía Prenatal/métodos , Adulto JovenRESUMEN
The karyotypes of 23 specimens belonging to 16 species from nine genera of Brazilian marsupials (family Didelphidae) were studied. The animals were collected in eight localities of Cerrado or Atlantic Forest biomes in the states of Goiás, Tocantins and São Paulo. The karyotypes were analyzed after conventional Giemsa staining and silver staining of the nucleolus organizer regions (Ag-NORs). New karyotypic data were obtained for Gracilinanus microtarsus (2n = 14, FN = 24),Marmosops paulensis (2n = 14, FN = 24), Micoreus paraguayanus (2n = 14, FN = 20) and Monodelphis rubida (2n = 18, FN = 32) and are discussed in detail. The karyotypes of G. microtarsus, M. paulensis and M. paraguayanus include three large pairs of submetacentrics (pairs 1, 2 and 3) and a medium-sized metacentric or submetacentric pair 4. Pairs 5 and 6 are small submetacentrics in G. microtarsus and M. paulensis and acrocentrics in M. paraguayanus. M. paulensis presented a single Ag-NOR in pair 6 (6p6p), while M. paraguayanus exhibited multiple Ag-NORs in pairs 5 and 6 (5pq5pq6p6p). There was variation in size and morphology of the sex chromosomes among these species. Monodelphis rubida presented a karyotype with 2n = 18 and FN = 32 composed of a large submetacentric pair 1, a medium-sized metacentric pair 2 and six pairs of submetacentrics (pairs 3 through 8). The X was a small acrocentric and the Y was dot-like. A single Ag-NOR bearing pair (5p5p) characterized M. rubida. Relevant karyotypic information was obtained for 19 specimens belonging to 12 species collected in areas sampled for the first time [Caluromys lanatus and C. philander (2n = 14, FN = 20), Gracilinanus emiliae (2n = 14, FN = 24), Marmosa murina, Metachirus nudicaudatus and Micoureus demerarae (2n = 14, FN = 20), Monodelphis americana (2n = 18, FN = 32) and M. domestica (2n = 18, FN = 20), and Didelphis marsupialis, Philander frenata, P. opossum and P. sp (2n = 22, FN = 20)]. Although the karyotypes...
Asunto(s)
Animales , Zarigüeyas/genética , Región Organizadora del Nucléolo , Brasil , Análisis Citogenético , Cariotipificación , Marsupiales/genéticaRESUMEN
The genus Callistomys belongs to the rodent family Echimyidae, subfamily Echimyinae, and its only living representative is Callistomys pictus, a rare and vulnerable endemic species of the state of Bahia, Brazil. Callistomys has been previously classified as Nelomys, Loncheres, Isothrix and Echimys. In this paper we present the karyotype of Callistomys pictus, including CBG and GTG-banding patterns and silver staining of the nucleolus organizer regions (Ag-NORs). Comments on Callistomys pictus morphological traits and a compilation of Echimyinae chromosomal data are also included. Our analyses revealed that Callistomys can be recognized both by its distintinctive morphology and by its karyotype.