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1.
Rhinology ; 60(6): 479-480, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36150157

RESUMO

Nasal disorders and cardiovascular damage: flow-mediated dilation and intima-media thickness as risk parameters.


Assuntos
Espessura Intima-Media Carotídea , Doenças Nasais , Humanos , Dilatação , Fatores de Risco
2.
Neotrop Entomol ; 49(6): 812-820, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32860613

RESUMO

In general, insect herbivore diversity is positively correlated to plant diversity since plant assemblages structure different microhabitats and provide food resources for such insects. Although poorly studied, insect herbivores in tropical dry forests are positively affected by tree species richness and the structural architecture of vegetation. In this study, we analyzed whether true weevil and woody plants present similar patterns of diversity across different landscape units in a Neotropical tropical dry forests located in Brazil, and if there is a correlation among their assemblages. We used Hill numbers according to species richness and the inverse of Simpson to compare the taxonomic diversity of true weevils and plants in nine landscape units located at the São Francisco river basin in the states of Sergipe and Alagoas, north-eastern Brazil. All trees and shrubs with diameter at breast height (1.3 m) ≥ 5 cm were sampled, and true weevils were collected using a modified Malaise trap. We used co-correspondence analysis to test if plants and true weevil species tend to co-occur. A total of 538 true weevils from 60 species was collected, and a total of 1419 plants belonging to 49 species was recorded. There is no general pattern of co-occurrence and diversity among true weevils and plants, indicating that the plant community is not structuring true weevil assemblage in the Caatinga. However, there was positive relationship between Sibinia sp4 and Fabaceae-Mimosoideae. These results suggest true weevil-plant relationships in the Caatinga differ from that of more mesic ecosystems. Therefore, we observed that the mechanisms that regulate herbivore-plant diversity relationships do not always follow a positive relationship, as observed in previous studies.


Assuntos
Biodiversidade , Herbivoria , Gorgulhos , Animais , Brasil , Florestas , Árvores/classificação , Gorgulhos/classificação , Madeira
3.
Bull Entomol Res ; 110(1): 77-83, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31190645

RESUMO

Flower and leaf herbivory might cause relevant and negative impacts on plant fitness. While flower removal or damage by florivores produces direct negative effects on plant fitness, folivores affect plant fitness by reducing resource allocation to reproduction. In this study, we examine the effects of both flower and leaf herbivory by leaf-cutting ants on the reproductive success of the shrub species Miconia nervosa (Smith) Triana (Family Melastomataceae) in a fragment of Atlantic Forest in Northeast Brazil. We conducted a randomized block-designed field experiment with nine replicates (blocks), in which three plants per block were assigned to one of the three following treatments: undamaged plants (ant exclusion), leaf-damaged plants (ant exclusion from reproductive organs, but not from leaves), and flower + leaf-damaged plants (no exclusion of ants). We then measured flower production, fruit set, and fruit production. Our results showed that flower + leaf-damaged plants reduced flower production nearly twofold in relation to undamaged plants, while flower set in leaf-damaged plants remained constant. The number of flowers that turned into fruits (i.e., fruit set), however, increased by 15% in flower + leaf-damaged plants, while it slightly decreased in leaf-damaged compared to undamaged plants. Contrastingly, fruit production was similar between all treatments. Taken together, our results suggest a prominent role of ant floral herbivory across different stages of the reproductive cycle in M. nervosa, with no consequences on final fruit production. The tolerance of M. nervosa to leaf-cutting ant herbivory might explain its high abundance in human-modified landscapes where leaf-cutting ants are hyper-abundant.


Assuntos
Formigas , Flores/crescimento & desenvolvimento , Frutas/crescimento & desenvolvimento , Herbivoria , Melastomataceae/fisiologia , Animais , Reprodução
4.
Neotrop Entomol ; 47(1): 69-78, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28401482

RESUMO

Excrement scarcity is one of the main historical factors leading dung beetles to adapt to other food resources. In the Caatinga, a seasonally tropical dry forest, harsh environmental conditions seem to restrict the availability of food resources. In this scenario, the aim of our study was to experimentally investigate the attractiveness of different potential food resources to these insects in the Caatinga. Field samplings were performed, and we tested five resources in pitfall baited traps: excrement, carrion, fruits of two species of columnar cacti, and seeds of one species of Euphorbiaceae (Jatropha mollissima (Pohl)). In a controlled setting, we tested dietary preferences of Deltochilum verruciferum Felsche by offering one or two resources simultaneously. In the field experiments, 297 dung beetles (9 species) were recovered from the traps, and D. verruciferum was the most abundant species. Carrion and excrement were the most attractive resources. Controlled dietary preference tests with D. verruciferum evidenced that these beetles used all tested food resources, excrement and carrion most pronouncedly. Our findings support copro-necrophagy as the main feeding habit of D. verruciferum, but also suggest that alternative resources might be utilized if preferred resources are scarce.


Assuntos
Besouros/fisiologia , Preferências Alimentares , Florestas , Animais , Brasil , Fezes , Clima Tropical
5.
Acta Otorhinolaryngol Ital ; 37(1): 38-45, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28374869

RESUMO

Chronic rhinosinusitis with nasal polyps (CRSwNP) is a common inflammatory disorder that strongly impacts patients' quality of life. CRSwNP is still a challenge for ENT specialists due to its unknown pathogenesis, difficult control and frequent relapse. We tested the hypothesis that a new standardised therapeutic approach based on individual clinical-cytological grading (CCG), may improve control of the disease and prevent the needing for surgery. We analysed 204 patients suffering from bilateral CRSwNP, 145 patients of whom regularly assumed therapy, respecting the planned check-up, and were considered cases; 59 patients were not assuming therapy as indicated and were considered as controls. After five years of standardised treatment, 15 of 145 (10.5%) improved endoscopic staging, 61 of 145 (42%) did not change their endoscopic staging, and 69 of 145 (47.5%) were worse. In the control group, 49 of 59 (83%) were worse by at least two stages (p < 0.05). Patients and controls were stratified basing on clinical and cytological grading as mild, moderate and severe. After patient stratification, in the mild group (n = 27) 92% patients had a constant trend, with no worsening and no need for surgery over a 5-year period, whereas in the mild CCG control group 1 of 59 (1.6%) required surgery (p < 0.05). In moderate GCC (n = 83), 44% of patients did not modify or improve endoscopic staging and 3.6% needed surgery, compared to 13.6% of controls with moderate GCC (p < 0.05). In severe CCG (n = 35), even though no patients achieved significant amelioration of endoscopic grading, 40% of patients were considered as "clinically controlled" and 5.7% of patients underwent surgery, but the percentage was significantly higher (49%) in the control group significant (p = 0.0000). Finally, statistical analyses revealed a clear trend that polyp size increased at a faster rate in the control group than in the treatment group and for each subgroup (low, moderate and severe). The present study suggests a new approach in the management of CRS according to clinical cytological grading that allows defining the grade of CRSwNP severity and to adapt the intensity of treatment. This approach limited the use of systemic corticosteroids to only moderate-severe CRSwNP with a low corticosteroid dosage in comparison with those previously suggested. Our protocol seems to improve the adherence by patients, control of disease and the need for surgery in the long-term.


Assuntos
Pólipos Nasais/terapia , Medicina de Precisão , Rinite/terapia , Sinusite/terapia , Adulto , Idoso , Algoritmos , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pólipos Nasais/complicações , Pólipos Nasais/patologia , Rinite/complicações , Rinite/patologia , Sinusite/complicações , Sinusite/patologia
6.
Clin Exp Allergy ; 46(6): 785-92, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27009397

RESUMO

Nasal cytology is a simple and safe diagnostic procedure that allows to assess the normal and pathological aspects of the nasal mucosa, by identifying and counting the cell types and their morphology. It can be easily performed by a nasal scraping followed by May-Grunwald-Giemsa staining and optical microscopy reading. This procedure allows to identify the normal cells (ciliated and mucinous), the inflammatory cells (lymphocytes, neutrophils, eosinophils, mast cells), bacteria, or fungal hyphae/spores. Apart from the normal cell population, some specific cytological patterns can be of help in discriminating among various diseases. Viral infections, allergic rhinitis, vasomotor rhinitis and overlapping forms can be easily identified. According to the predominant cell type, various entities can be defined (named as NARES, NARESMA, NARMA). This implies a more detailed knowledge and assessment of the disease that can integrate the standard diagnostic procedures. Nasal cytology also represents a useful research tool for diagnosis and therapy.


Assuntos
Citodiagnóstico , Mucosa Nasal/patologia , Doenças Nasais/diagnóstico , Citodiagnóstico/métodos , Citodiagnóstico/tendências , Diagnóstico Diferencial , Humanos , Doenças Nasais/etiologia
7.
Anim Genet ; 46(2): 122-32, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25643727

RESUMO

Mycobacterium avium subspecies paratuberculosis (MAP) is a pathogenic bacterium responsible for the lethal Johne's disease in cattle. So far, several genome-wide association studies (GWAS) have been carried out to identify chromosomal regions highly associated with Johne's disease. The aim of this study was to investigate the genetic variability within a pool of seven genes (LAMB1, DLD, WNT2, PRDM1, SOCS5, PTGER4 and IL10) indicated by former GWAS/RNA-Seq studies as putatively associated with MAP infections and to achieve a confirmation study of association with paratuberculosis susceptibility in a population of 324 German Holstein cattle (162 cases MAP positive and 162 controls MAP negative) using ELISA and fecal cultural tests. SNP validation and genotyping information are provided, quick methods for allelic discrimination were set up and transcription factor binding analyses were performed. The rs43390642:G>TSNP in the WNT2 promoter region is associated with paratuberculosis susceptibility (P = 0.013), suggesting a protective role of the T allele (P = 0.043; odds ratio 0.50 [0.25-0.97]). The linkage disequilibrium with the DLD rs134692583:A>T might suggest a combined mechanism of action of these neighboring genes in resistance to MAP infection, which is also supported by a significant effect shown by the haplotype DLD(T) /WNT2(T) (P = 0.047). In silico analysis predicted rs43390642:G>T and rs134692583:A>T as essential parts of binding sites for the transcription factors GR, C/EBPß and GATA-1, hence suggesting a potential influence on WNT2 and DLD gene expression. This study confirmed the region on BTA 4 (UMD 3.1: 50639460-51397892) as involved in tolerance/resistance to Johne's disease. In addition, this study clarifies the involvement of the investigated genes in MAP infection and contributes to the understanding of genetic variability involved in Johne's disease susceptibility.


Assuntos
Formação de Anticorpos , Doenças dos Bovinos/genética , Bovinos/genética , Paratuberculose/genética , Animais , Sítios de Ligação/genética , Bovinos/microbiologia , Doenças dos Bovinos/imunologia , Ensaio de Imunoadsorção Enzimática/veterinária , Frequência do Gene , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Haplótipos , Mycobacterium avium subsp. paratuberculosis , Paratuberculose/imunologia , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/metabolismo
8.
Gene ; 547(1): 159-68, 2014 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-24973699

RESUMO

The ß-casein is the most abundant protein in camel milk and its encoding gene (CSN2) is considered in other species a 'major' gene for the presence of alleles associated to different level of expression. In the present paper, we report for the first time the characterization of the nucleotide sequence of the whole ß-casein-encoding gene (CSN2) plus 2,141 bp at the 5'-flanking region in Camelus dromedarius. The promoter region and the complete cDNA are also provided for the first time in Camelus bactrianus. The gene is spread over 7.8 kb and consists of 9 exons varying in length from 24 bp (exon 5) to 519 bp (exon 7), and 8 introns from 95 bp (intron 5) to 1,950 bp (intron 1). The composite response element (CoRE) region was identified in the promoter, whereas the presence of mature microRNA sequences improves the knowledge on the factors putatively involved in the gene regulation. A total of 46 polymorphic sites have been detected. The transition g.2126A>G falls within the TATA-box of dromedary CSN2 promoter with a putative influence on the transcription factor binding activity. The frequency of the G allele is 0.35 in a population of 180 she-camels belonging to 4 different ecotypes. In the same population, a conservative SNP (g.4175C>A) was found at the codon 7 of the signal peptide, whereas a comparative analysis with a cDNA sequence available in the database evidenced a missense SNP (g.4180T(Leu)>G(Arg)) at exon 2. Four SNPs were found in the bactrian camel. The SNP c.666G>A is responsible for the amino acid change Met(201)→Ile and it represents the first missense allele at the ß-casein in camels. Finally, five interspersed repeated elements were identified at intronic level, whereas the presence of putative bio-functional peptides belonging to ACE-inhibitor and anti-oxidative families confirms the potential protective role of the camel milk for the human nutrition.


Assuntos
Camelus/genética , Caseínas/genética , Variação Genética , Regiões Promotoras Genéticas , Alelos , Animais , Sequência de Bases , Primers do DNA , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
9.
Acta Otorhinolaryngol Ital ; 34(1): 36-41, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24711681

RESUMO

Rhinitis and rhinosinusitis (with/without polyposis), either allergic or non-allergic, represent a major medical problem. Their associated comorbidities and relationship with family history have so far been poorly investigated. We assessed these aspects in a large population of patients suffering from rhinosinusal diseases. Clinical history, nasal cytology, allergy testing and direct nasal examination were performed in all patients referred for rhinitis/rhinosinusitis. Fibre optic nasal endoscopy, CT scan and nasal challenge were used for diagnosis, when indicated. A total of 455 patients (60.7% male, age range 4-84 years) were studied; 108 (23.7%) had allergic rhinitis, 128 (28.1%) rhinosinusitis with polyposis, 107 (23.5%) non-allergic rhinitis (negative skin test); 112 patients had associated allergic and non-allergic rhinitis, the majority with eosinophilia. There was a significant association between non-allergic rhinitis and family history of nasal polyposis (OR = 4.45; 95%CI = 1.70-11.61; p = 0.0019), whereas this association was no longer present when allergic rhinitis was also included. Asthma was equally frequent in non-allergic and allergic rhinitis, but more frequent in patients with polyposis. Aspirin sensitivity was more frequent in nasal polyposis, independent of the allergic (p = 0.03) or non-allergic (p = 0.01) nature of rhinitis. Nasal polyposis is significantly associated with asthma and positive family history of asthma, partially independent of the allergic aetiology of rhinitis.


Assuntos
Asma/complicações , Pólipos Nasais/complicações , Rinite Alérgica/complicações , Rinite/complicações , Sinusite/complicações , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Asma/diagnóstico , Asma/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pólipos Nasais/diagnóstico , Pólipos Nasais/genética , Rinite/diagnóstico , Rinite/genética , Rinite Alérgica/diagnóstico , Rinite Alérgica/genética , Sinusite/diagnóstico , Sinusite/genética , Adulto Jovem
11.
Cytogenet Genome Res ; 140(1): 29-35, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23652984

RESUMO

The recent advances in sequencing technology and bioinformatics have revolutionized genomic research, making the decoding of the genome an easier task. Genome sequences are currently available for many species, including cattle, sheep and river buffalo. The available reference genomes are very accurate, and they represent the best possible order of loci at this time. In cattle, despite the great accuracy achieved, a part of the genome has been sequenced but not yet assembled: these genome fragments are called unmapped fragments. In the present study, 20 unmapped fragments belonging to the Btau_4.0 reference genome have been mapped by FISH in cattle (Bos taurus, 2n = 60), sheep (Ovis aries, 2n = 54) and river buffalo (Bubalus bubalis, 2n = 50). Our results confirm the accuracy of the available reference genome, though there are some discrepancies between the expected localization and the observed localization. Moreover, the available data in the literature regarding genomic homologies between cattle, sheep and river buffalo are confirmed. Finally, the results presented here suggest that FISH was, and still is, a useful technology to validate the data produced by genome sequencing programs.


Assuntos
Búfalos/genética , Bovinos/genética , Cromossomos de Mamíferos/genética , Mapeamento Físico do Cromossomo/métodos , Ovinos/genética , Animais , Sequência de Bases , Cromossomos Artificiais Bacterianos/genética , Bases de Dados Genéticas , Loci Gênicos , Genoma , Hibridização in Situ Fluorescente , Subunidade alfa2 de Receptor de Interleucina-13/genética , Reprodutibilidade dos Testes , Homologia de Sequência do Ácido Nucleico , Especificidade da Espécie
12.
Cytogenet Genome Res ; 139(2): 97-101, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23328281

RESUMO

Reciprocal translocations represent one of the most common structural chromosomal rearrangements observed in both humans and domestic animals. In these translocations, the balanced forms are most frequent but may remain undetected because the carriers show a normal phenotype. For this reason, routine cytogenetic analysis of domestic animals should necessarily rely on banded karyotypes. In fact, during a screening analysis, carried out on phenotypically normal young sheep (Ovis aries, OAR, 2n = 54) from Laticauda-Comisana hybrids, a new structural rearrangement was detected. Two abnormal acrocentric chromosomes (the smallest and the largest one) were found in all metaphases of this carrier animal, suggesting the presence of a reciprocal translocation (rcp). CBA and RBA banding were performed in order to characterize the translocation, and FISH with chromosome-specific BAC probes and telomere probes was applied to confirm the cytogenetic data. The translocation was classified as rcp(4q;12q)(q13;q25).


Assuntos
Cromossomos de Mamíferos/genética , Análise Citogenética/métodos , Carneiro Doméstico/genética , Translocação Genética , Animais , Bandeamento Cromossômico/métodos , Sondas de DNA/genética , Feminino , Hibridização Genética , Hibridização in Situ Fluorescente/métodos , Cariótipo , Cariotipagem/métodos , Masculino , Fenótipo , Reprodutibilidade dos Testes
13.
Cytogenet Genome Res ; 139(1): 17-21, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-22986410

RESUMO

In recent years increasing attention has been paid to the cytogenetic control of Italian Mediterranean river buffalo (BBU) bulls authorized as sires which are registered in the stud book. Chromosome abnormalities described in this species are mainly numerical and affecting sex chromosomes. During routine cytogenetic analyses performed on young Italian Mediterranean river buffalo bulls in the progeny test, 1 animal was found to be carrier of a never before reported translocation t(1p;18) originated by fission of BBU1 and subsequent centric fusion of BBU1p with BBU18 as demonstrated by both R-banding and FISH-mapping techniques using specific molecular markers of BBU1p (DEFB1) and BBU18 (GPI). According to sperm analyses the semen characteristics were in physiological ranges, but the calf crop percentage was only 48.77% instead of 70-80%. Cytogenetic analyses performed on 50 offspring (36 females and 14 males) showed that 15 of them (30%) were carriers of the same translocation.


Assuntos
Búfalos/genética , Infertilidade Masculina/veterinária , Translocação Genética , Cariótipo Anormal , Animais , Cruzamento , Bandeamento Cromossômico , Cromossomos de Mamíferos/genética , Feminino , Testes Genéticos , Heterozigoto , Hibridização in Situ Fluorescente , Infertilidade Masculina/genética , Masculino
14.
Theriogenology ; 78(3): 688-95, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22503844

RESUMO

The present study reports on the frequency of X-Y aneuploidy in the sperm population of two minor cattle breeds reared in Italy, namely Modicana and Agerolese, which are listed in the "Anagraphic Register of autochthonous cattle populations with limited distribution". More than 50 000 sperm nuclei from 11 subjects (5 and 6, respectively for each breed) have been analyzed by the fluorescent in situ hybridization with the Xcen and Y-chromosome specific painting probes. The fraction of X- and Y-bearing sperm was close to the 1:1 ratio in the Modicana breed, whereas in the Agerolese the Y-fraction was significantly higher (P < 0.002) compared to the X-counterpart. The mean rates of X-Y aneuploidy were 0.510 and 0.466%, respectively, in the two breeds; no significant differences were found among individual bulls within each breed. Average frequencies of disomic and diploid sperm were 0.425 and 0.085% in the former and 0.380 and 0.086% in the latter. In both breeds, (a) disomy was significantly more frequent than diploidy (P < 0.01), (b) YY disomy was significantly (P < 0.001) more frequent than XY or XX; (c) MI errors (XY disomy) were significantly (P < 0.01) less represented than MII (XX + YY disomy). Compared to the dairy (Italian Friesian and Brown) and meat (Podolian and Maremmana) breeds previously analyzed, the "minor" breeds investigated in the present study showed a significantly (P < 0.002) higher rate of X-Y aneuploidy (0.486 vs. 0.159 and 0.190%, respectively). Considering all the breeds analyzed -so far- and assuming no significant interchromosomal effect, the baseline level of aneuploidy in the sperm population of the species Bos taurus was estimated as 5.19%. Establishing the baseline level of aneuploidy in the sperm population of the various livestock species/breeds engaged in animal production could reveal useful for monitoring future trends of their reproductive health, especially in relation to management errors and/or environmental hazards.


Assuntos
Aneuploidia , Bovinos/genética , Hibridização in Situ Fluorescente/veterinária , Espermatozoides/ultraestrutura , Cromossomo X/genética , Cromossomo Y/genética , Animais , Núcleo Celular/genética , Frequência do Gene , Itália , Masculino , Especificidade da Espécie
15.
J Appl Genet ; 53(2): 221-6, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22415351

RESUMO

Fifty river buffalo (Bubalus bubalis, 2n = 50) cows reared in two different provinces of Campania (southern Italy) underwent cytogenetic investigations to ascertain possible differences in their chromosome stability. One group (Caserta province) was under legal sequestration due to the presence in the milk mass of higher mean values of dioxins [21.79 pg/g of fat as sum of polychloro-dibenzo-dioxins (PCDDs), polychloro-dibenzo-furans (PCDFs) and dioxin-like polychlorobiphenyls (DL-PCBs)] than both those permitted (6.0 pg/g of fat as WHO-TEQ) and those (1.3 pg/g of fat as WHO-TEQ) observed in the control group raised in Salerno province. Two types of peripheral blood cell cultures were performed: without (normal cultures for the chromosome abnormality (CA) test: chromatid breaks, chromosome breaks, fragments) and with the addition of BrdU for the sister chromatid exchange (SCE) test). The CA test revealed a significantly (P < 0.01) higher chromosome fragility in the exposed cows compared to the control. Indeed, mean values of CA/cell were 1.26 ± 1.15 in exposed cows and 0.37 ± 0.71 in the control. Mean SCE was higher in exposed cows (8.50 ± 3.35) than that (8.29 ± 3.51) found in the control but the difference was not significant. Comparison within the same group of cows at first (FL) and multiple (ML) lactations revealed significantly (P < 0.01) higher mean values of CA/cell in exposed ML-cows vs FL-cows while no statistical differences were found between ML-cows and FL-cows in the control farm. By contrast, significantly (P < 0.01) higher mean values of SCE were found in both groups of FL-cows versus ML-cows. Comparisons with other previous studied species (sheep and cattle) were also performed.


Assuntos
Búfalos/genética , Aberrações Cromossômicas/efeitos dos fármacos , Fragilidade Cromossômica/efeitos dos fármacos , Dioxinas/análise , Poluentes Ambientais/análise , Leite/química , Animais , Bromodesoxiuridina , Bovinos , Células Cultivadas , Fragilidade Cromossômica/genética , Dioxinas/toxicidade , Poluentes Ambientais/toxicidade , Feminino , Itália , Leucócitos Mononucleares/citologia , Leucócitos Mononucleares/efeitos dos fármacos , Carneiro Doméstico/genética , Troca de Cromátide Irmã/efeitos dos fármacos , Troca de Cromátide Irmã/genética
16.
Sex Dev ; 6(1-3): 18-32, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22024933

RESUMO

The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and/or the coexistence of cells with different sex chromosome constitutions in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. In recent years, a growing interest has developed around the environmental insults, such as endocrine-disrupting compounds (EDC) and heat stressors, which affect fertility, early embryonic development and, in some instances, directly the sex ratio and/or the development of 1 specific sex versus the other. A variety of chemical compounds present in the environment at low doses has been shown to have major effects on the reproductive functions in human and domestic animals following prolonged exposure. In this review, we present an overview of congenital/chromosomal factors that are responsible for the DSDs and link them and the lack of proper embryonic development to environmental factors that are becoming a major global concern.


Assuntos
Animais Domésticos , Aberrações Cromossômicas/veterinária , Transtornos do Desenvolvimento Sexual/veterinária , Meio Ambiente , Estresse Fisiológico , Animais , Búfalos , Bovinos , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Desenvolvimento Embrionário , Disruptores Endócrinos , Poluentes Ambientais , Feminino , Temperatura Alta/efeitos adversos , Cariotipagem , Masculino , Gravidez , Complicações na Gravidez , Aberrações dos Cromossomos Sexuais/veterinária , Suínos
17.
Sex Dev ; 6(1-3): 104-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22025175

RESUMO

An 18-month-old Arabian foal characterized by a stallion-like appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX, a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an amino acid substitution.


Assuntos
Transtornos do Desenvolvimento Sexual/veterinária , Doenças dos Cavalos/genética , Proteína da Região Y Determinante do Sexo/genética , Animais , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Cavalos , Cariotipagem/veterinária , Diferenciação Sexual/genética
18.
Theriogenology ; 77(3): 675-83, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22056011

RESUMO

In vitro-matured metaphase II (MII) oocytes with corresponding first polar bodies (I pb) from two indigenous cattle (Bos taurus) breeds have been investigated to provide specific data upon the incidence of aneuploidy. A total of 165 and 140 in vitro-matured MII oocytes of the Podolian (PO) and Maremmana (MA) breeds, respectively, were analyzed by fluorescence in situ hybridization using Xcen and five chromosome-specific painting probes. Oocytes with unreduced chromosome number were 13.3% and 6.4% in the two breeds, respectively, averaging 10.2%. In the PO, out of 100 MII oocytes + I pb analyzed, two oocytes were nullisomic for chromosome 5 (2.0%) and one disomic for the same chromosome (1.0%). In the MA, out of 100 MII oocytes + I pb, one oocyte was found nullisomic for chromosome 5 (1.0%) and one was disomic for the X chromosome (1.0%). Out of 200 MII oocytes + I pb, the mean rate of aneuploidy (nullisomy + disomy) for the two chromosomes scored was 2.5%, of which 1.5% was due to nullisomy and 1.0% due to disomy. By averaging these data with those previously reported on dairy cattle, the overall incidence of aneuploidy in cattle, as a species, was 2.25%, of which 1.25% was due to nullisomy and 1.0% due to disomy. The results so far achieved indicate similar rates of aneuploidy among the four cattle breeds investigated. Interspecific comparison between cattle (Xcen-5 probes) and pig (Sus scrofa domestica) (1-10 probes) also reveal similar rates. Further studies are needed that use more probes to investigate the interchromosomal effect. Establishing a baseline level of aneuploidy for each species/breed could also be useful for improving the in vitro production of embryos destined to the embryo transfer industry as well as for monitoring future trends of the reproductive health of domestic animals in relation to management errors and/or environmental hazards.


Assuntos
Bovinos/genética , Aberrações Cromossômicas/veterinária , Hibridização in Situ Fluorescente/veterinária , Animais , Feminino , Cariótipo , Oócitos , Suínos/genética
19.
Theriogenology ; 76(2): 328-33, 2011 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-21529915

RESUMO

The present study reports on the incidence of X-Y aneuploidy in the sperm population of two indigenous cattle breeds reared in Italy for beef purposes, the Podolian and Maremmana. Totally, more than 50 000 sperm nuclei from 10 subjects (5 from each breed) have been fluorescent in situ hybridization (FISH) analyzed by using Xcen- and Y-chromosome-specific painting probes. In both breeds, the fraction of Y-bearing sperm was significantly higher (P < 0.01) compared with the X-counterpart. The rates of X-Y aneuploidy were 0.180% and 0.200%, respectively, in the Podolian and Maremmana. No significant interindividual differences were found. Average frequencies of disomic and diploid sperm were 0.149% and 0.031% in the former and 0.098% and 0.102% in the latter. Significant differences (P < 0.05) were found among the XX-XY and YY-disomy classes in both breeds, while diploidy classes were uniformly represented. In the Podolian breed, disomies were more frequent than diploidies (P < 0.05), whereas in the Maremmana they showed similar frequencies. In both breeds disomies arising from errors in meiosis I (X-Y disomies) were more represented than those arising in meiosis II (XX and YY), while this difference was not detected for diploidies. The present study provides specific information on the incidence of X-Y sperm aneuploidy in two indigenous breeds of cattle, in order to establish a breed-specific 'aneuploidy data-base' that could be used as reference for genetic improvement and future monitoring of the reproductive health of the breed.


Assuntos
Aneuploidia , Bovinos/genética , Hibridização in Situ Fluorescente/veterinária , Espermatozoides/ultraestrutura , Cromossomo X/genética , Cromossomo Y/genética , Animais , Cruzamento , Núcleo Celular/genética , Diploide , Hibridização in Situ Fluorescente/métodos , Masculino , Especificidade da Espécie
20.
Cytogenet Genome Res ; 134(2): 96-100, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21389692

RESUMO

A new and unusual reciprocal translocation was detected in a heifer of the Agerolese cattle breed during a routine cytogenetic screening carried out on 13 animals (2 males and 11 females) kept at the ConSDABI Conservation Center in Benevento (Southern Italy). The 13 animals investigated had a normal karyotype except for a 1-year-old female, which carried one autosome smaller than the smallest normal bovine autosomes. This small autosome showed very little C-banding in comparison to the other autosomes, while another medium-sized autosome showed 2 distinct and prominent C-bands. RBA-banding and karyotype analysis revealed that these 2 chromosomes were the result of a reciprocal translocation between chromosomes 11 and 25. FISH analysis with BAC142G06 mapping to the proximal (subcentromeric) region of both BTA25 and der11, BAC513H08 (ELN) mapping to BTA25q22dist and der25, and BAC533C11 mapping to the proximal region of BTA11 and der11 confirmed the localization of the breakpoints on band q11 (centromere) of chromosome 11 and q14-21 of chromosome 25. Ag-NOR and sequential RBA/Ag-NOR techniques detected the presence of NORs on both BTA11 and BTA25 and both der11 and der25. To our knowledge, this is the first report of a reciprocal translocation event in cattle with the breakpoint located in the centromeric region.


Assuntos
Bovinos/genética , Cromossomos de Mamíferos , Translocação Genética , Animais , Células Cultivadas , Centrômero/genética , Feminino , Masculino
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