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1.
J Clin Endocrinol Metab ; 105(3)2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-32084277

RESUMO

CONTEXT: Selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) is an essential factor for selenoprotein synthesis. Individuals with SBP2 defects have characteristic thyroid function test (TFT) abnormalities resulting from deficiencies in the selenoenzymes deiodinases. Eight families with recessive SBP2 gene mutations have been reported to date. We report 2 families with inherited defect in thyroid hormone metabolism caused by 4 novel compound heterozygous mutations in the SBP2 gene. CASE DESCRIPTIONS: Probands 1 and 2 presented with growth and developmental delay. Both had characteristic TFT with high T4, low T3, high reverse T3, and normal or slightly elevated TSH. The coding region of the SBP2 gene was sequenced and analysis of in vitro translated wild-type and mutant SBP2 proteins was performed. Sequencing of the SBP2 gene identified novel compound heterozygous mutations resulting in mutant SBP2 proteins E679D and R197* in proband 1, and K682Tfs*2 and Q782* in proband 2. In vitro translation of the missense E679D demonstrated all four isoforms, whereas R197* had only 2 shorter isoforms translated from downstream ATGs, and Q782*, K682Tfs*2 expressed isoforms with truncated C-terminus. Reduction in serum glutathione peroxidase enzymatic activity was also demonstrated in both probands. CONCLUSIONS: We report 2 additional families with mutations in the SBP2 gene, a rare inherited condition manifesting global selenoprotein deficiencies. Report of additional families with SBP2 deficiency and their evaluation over time is needed to determine the full spectrum of clinical manifestations in SBP2 deficiency and increase our understanding of the role played by SBP2 and selenoproteins in health and disease.

2.
Arch Oral Biol ; 111: 104642, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31887570

RESUMO

OBJECTIVE: To investigate the effect of resveratrol (RSV) on orthodontic tooth movement (OTM) and orthodontic induced root resorption (OIRR) in rats. METHODS: Thirty-six male Wistar rats used in this study were randomly divided into three groups of 12 animals each. All test subjects underwent a 50 g orthodontic force each, generated from a nickel-titanium closed-coil spring. The control group were fed carboxymethylcellulose (CMC) while rats in other two groups were fed 5 mg/kg/d RSV or 10 mg/kg/d RSV (dissolved in CMC). After 14 days of OTM, all rats were sacrificed, after which each group was randomly divided into two subgroups (6 test subjects in each subgroup). One subgroup was used to measure the amount of OTM and assessed by hematoxylin and eosin (HE) staining, tartrate-resistant acid phosphatase (TRAP) staining, and immunohistochemistry staining of Receptor Activator of Nuclear Factor-κ B Ligand (RANKL), Osteoprotegerin (OPG), Runt-related transcription factor 2 (RUNX2), as well as Osteocalcin (OCN). The second subgroup was used to analyze OIRR via scanning electron microscopy. RESULTS: Compared with the control group, the RSV groups showed a significant decrease in the distance of OTM and the OIRR ratio (p<0.05). The number of TRAP positive osteoclasts and the expression of RANKL in periodontal tissue of the RSV groups were significantly inhibited (p<0.01) while the expression of OPG, RUNX2, and OCN were remarkably promoted (p<0.05). The effect of 10 mg/kg/d RSV group was more obvious than that of 5 mg/kg/d RSV group (p<0.05). CONCLUSIONS: RSV could reduce the extent of OTM and root resorption areas.


Assuntos
Reabsorção da Raiz , Técnicas de Movimentação Dentária , Animais , Masculino , Osteoclastos , Ratos , Ratos Wistar , Resveratrol , Raiz Dentária
3.
Thyroid ; 30(3): 463-465, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31856685

RESUMO

Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic thyroid function test (TFT) abnormalities. Two children with mild neurological phenotypes and normal TFTs were found to harbor MCT8 gene variants of unknown significance (VUS), MCT8-R388Q that occurred de novo, and MCT8-Q212E. Normal TH transport and action in fibroblasts of MCT8-R388Q was demonstrated in a novel nonradioactive functional assay measuring the intracellular TH availability after L-T3 treatment. No genotype-phenotype correlation was found in additional family members carrying MCT8-Q212E. For the field of MCT8 deficiency, it is important to assess the significance of MCT8 gene VUS.

4.
Endocrinology ; 2019 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-31826256

RESUMO

Selenocysteine insertion sequence binding protein 2, SBP2 (SECISBP2), is required for selenoprotein synthesis. Partial SBP2 deficiency syndrome manifests characteristic thyroid function tests. The Sbp2 deficiency mouse model, Sbp2 iCKO, replicates this thyroid phenotype and was used for pathophysiologic investigations. As selenoproteins have antioxidative role in thyroid gland function, their deficiencies have potential to affect thyroid hormone (TH) synthesis. Sbp2 iCKO mice had larger thyroids relative to body weight and increased thyroidal T4 and T3 content while 5' deiodinases enzymatic activities were decreased. Possible mechanisms for the discrepancy between the increased thyroidal T3 and normal circulating T3 were investigated in dynamic experiments. Treatment with bovine TSH resulted in increased delta T4 in Sbp2 iCKO mice, indicating increased availability of preformed thyroidal TH. Next, the recovery of TH levels was evaluated after withdrawal of chemical suppression. At one day, Sbp2 iCKO had higher serum and thyroidal T3 concomitant with lower TSH, confirming increased capacity of TH synthesis in Sbp2 deficiency. Decreased TH secretion was ruled out, as serum and thyroidal TH were high in Sbp2 iCKO mice. Treatment with low-iodine diet also ruled out thyroidal secretion defect as both serum levels and thyroidal TH content similarly declined over time in Sbp2 deficient mice compared to Wt. This study provides evidence for unsuspected changes in thyroid gland that contribute to the thyroid phenotype of Sbp2 deficiency, with increased thyroidal T4 and T3 content in setting of increased TH synthesis capacity contributing to the circulating TH levels while thyroidal secretion is preserved.

5.
Opt Express ; 27(15): 20508-20515, 2019 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-31510143

RESUMO

In this study, a biomimetic compound eye (BCE) was realized on diamond by combining thermal reflow with dry etching techniques. Firstly, photoresist pillars were developed on diamond surface by standard photolithography. Then, these pillars were reflowed on a hotplate to form spherical segment patterns. Furthermore, dry etching technique was used to transfer these patterns into diamond surface to form the convex curve surface with diameter of 300 µm, on which, ommatidia with diameter of 18 µm and space of 35 µm were fabricated with the same processes to obtain BCE. Finally, the as-fabricated diamond BCE was characterized, indicating a well-uniformity according to the point spread function and exhibiting clear images of the testing pattern in projection experiment, which is expected to work under harsh conditions such as high intensity irradiation and strong acid.

6.
Sci Rep ; 9(1): 5192, 2019 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-30914662

RESUMO

Fabrication of hydrogen-terminated diamond (H-diamond) field-effect transistor (FET) with AlOx dielectric layer has been successfully carried out. The AlOx layer was formed by auto-oxidizing 6 nm Al film in the air at room temperature, and a FET without AlOx dielectric layer has also been fabricated for comparison. For both FETs, 100 nm Al layers were deposited as the gate electrodes, respectively. The leakage current density in FET with AlOx dielectric layer was four magnitude orders lower than that without AlOx dielectric layer at VGS = -5 V, indicating that AlOx dielectric layer could effectively reduce leakage current and prevent reverse ID in ID - VDS caused by defects on diamond surface. Distinct pinch-off characteristic with p-type channel was observed in ID - VDS measurement. The threshold voltage was -0.4 V at VDS = -15 V.

7.
Sci Rep ; 9(1): 4699, 2019 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-30886167

RESUMO

Fabrication of single crystal diamond capacitive pressure sensor is presented. Firstly, the single crystal diamond cantilever beam was formed on HPHT diamond substrate by using selective high-energy ion implantation, metal patterning, ICP etching and electrochemical etching techniques. Secondly, on this diamond cantilever beam, the desired electrode patterns were processed with photolithography and metal evaporation methods. Furthermore, the displacements of cantilever beam under different pressure conditions were investigated by atomic force microscopy. The capacitance-voltage curves of single crystal diamond cantilever beam and substrate under different force loading conditions were measured by using Agilent B1505A parameter analyzer. The results show that sensitivity increases with the enlargement of electrode area of cantilever beam, and decreases with the rise of measurement frequency.

8.
Brain Behav Immun ; 79: 195-206, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30738183

RESUMO

Depression is highly prevalent among patients with chronic obstructive pulmonary disease (COPD). However, depression with COPD comorbidity is often underdiagnosed and undertreated, and pathogenic research is also insufficient. In the present study, we characterised pulmonary and hippocampal dysfunction by researching the interaction between inflammasome-regulated cytokines and glucocorticoid receptor (GR) signalling by investigating the role of fluoxetine (FLU), one of the most widely used antidepressants in clinical practice. Mice were exposed to cigarette smoke (CS) to induce the model of COPD with comorbid depression, and pathological alterations in serum, hippocampus, lung, and bronchoalveolar lavage fluid were determined. Our results showed that the CS procedure induced the accumulation of inflammatory cells (macrophages, neutrophils, and lymphocytes), the production of cytokines, the activation of inflammasome components (NLRP3, ASC, caspase-1), depression-related behaviours, and the stimulation of GR signalling. Intriguingly, glucocorticoid resistance occurred in CS-exposed mice, with elevated serum corticosterone and suppressed hippocampal GR levels, which suggested a novel potential regulatory mechanism underlying COPD-induced depression comorbidity. Furthermore, chronic CS exposure decreased the pGR-S211/pGR-S226 ratio, increased the active nuclear GR, and impaired cytosolic GR binding capacity and GR transcriptional activity, which might be responsible for the activation of the inflammasome-induced inflammatory cascade. These alterations were reversed by chronic FLU treatment, indicating that FLU-mediated GR signalling was involved in the COPD induced inflammasome activation. Our research explored the underlying molecular mechanism of comorbid COPD/depression and provided in vivo evidence that glucocorticoid resistance occurred during CS-induced central nervous system inflammation, a potential mechanism underlying the cross talk between the lung and brain.

9.
Opt Express ; 26(13): 17092-17098, 2018 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-30119526

RESUMO

In this study, a Ti-diamond-Ti structured ultraviolet photodetector was fabricated on a homoepitaxial diamond layer with an oxygen-terminated surface. The properties of the Ti/diamond schottky contact were measured using X-ray photoelectron spectroscopy, and the barrier height was found to be 1.15 eV. At a bias of 3 V, the responsivity at 210 nm was only 4.29 mA/W, while at 12 V, the responsivity increased rapidly to 51 mA/W. The increase can be ascribed to the photocurrent gain. With the further increase in voltage, an avalanche effect was produced, and the responsivity could reach 1.18 A/W at 50 V. Moreover, the transient response behavior of the photodetector exhibited a good repeatability and response speed.

10.
Cell Biosci ; 8: 38, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29928498

RESUMO

Background: This study investigated the role of HSP70 in modulating intestinal γδ T cells' Th17 response in Trichinella spiralis-induced PI-IBS mice model. Methods: The intestinal HSP70's expression and mRNA level were measured by Western blot and RT-PCR. The intestinal γδ T cell's morphological changes were analyzed using immunofluorescence staining and confocal laser scanning microscope. The pro-inflammatory cytokines' level was detected by ELISA. The isolated and purified γδ T cells were pre-incubated with HSP70 and their functions including proliferation, apoptosis, activation and production of IL-17 were also detected. Results: Heat treatment augmented intestinal HSP70 expression and alleviated the clinical presentations in PI-IBS mice. Meanwhile, intestinal γδ T cells and local IL-17 level were increased by pre-induction of HSP70. HSP70 promoted the proliferation of PI-IBS mice's intestinal γδ T cells, inhibited the apoptosis and stimulated these cells to secret IL-17 rather than IFN-γ. Conclusion: Our results suggest that HSP70 plays a protective role via up-regulating intestinal γδ T cell's Th17 response in PI-IBS mice.

11.
Endocrinology ; 158(12): 4317-4330, 2017 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-29029094

RESUMO

Selenocysteine insertion sequence binding protein 2 (SBP2) is an essential factor in selenoprotein synthesis. Patients with SBP2 defects have a characteristic thyroid phenotype and additional manifestations such as growth delay, male infertility, impaired motor coordination, and developmental delay. The thyroid phenotype has become pathognomonic for this defect, and putative deficiencies in the iodothyronine deiodinases selenoenzymes have been implicated. To investigate the role of SBP2 and selenoproteins in thyroid physiology and answer questions raised by the human syndrome, we generated a tamoxifen-inducible Sbp2 conditional knockout (iCKO) mouse model. These Sbp2-deficient mice have high serum thyroxine (T4), thyrotropin, and reverse triiodothyronine (T3), similar to the human phenotype of SBP2 deficiency, whereas serum T3 is normal. Their liver T4 and T3 content reflect the serum levels, and deiodinase 1 expression and enzymatic activity were decreased. In contrast, brain T3 content is decreased, indicative of local hypothyroidism, confirmed by the decreased expression of the thyroid hormone (TH) positively regulated gene hairless. Interestingly, the cerebrum T4 content did not parallel the high serum T4 levels, and the expression of TH transporters was decreased. Deiodinase 2 enzymatic activity and deiodinase 3 expression were decreased in cerebrum. The expression and/or activity of other selenoproteins were decreased in brain, liver, and serum, thus demonstrating a global deficiency in selenoprotein synthesis. Sbp2 iCKO mice replicate the thyroid phenotype of SBP2 deficiency and represent an important tool to advance our understanding of the role of SBP2 in thyroid homeostasis and for investigating selenoprotein biology relevant to human disease.


Assuntos
Modelos Animais de Doenças , Hipotireoidismo/metabolismo , Proteínas de Ligação a RNA/metabolismo , Hormônios Tireóideos/metabolismo , Animais , Encéfalo/metabolismo , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/genética , Iodeto Peroxidase/genética , Iodeto Peroxidase/metabolismo , Fígado/metabolismo , Camundongos Knockout , Proteínas de Ligação a RNA/genética , Selenoproteínas/biossíntese , Glândula Tireoide/metabolismo , Hormônios Tireóideos/sangue
12.
Sci Rep ; 7(1): 12157, 2017 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-28939907

RESUMO

Investigation of ohmic contact between iridium (Ir) film and hydrogen-terminated single crystal diamond has been carried out with annealing temperature from 300 to 600 °C in argon (Ar) and hydrogen ambient. Electrodes were deposited on hydrogen-terminated single crystal diamond by electron beam evaporation technique, and specific contact resistivity has been measured by transmission line model. The interface between Ir film and hydrogen-terminated single crystal diamond was characterized by transmission electron microscopy and energy dispersive X-ray spectroscopy. Theoretical calculation value of barrier height between Ir film and hydrogen-terminated single crystal diamond was around -1.1 eV. All results indicate that an excellent ohmic contact could be formed between Ir film and hydrogen-terminated single diamond.

13.
PLoS One ; 12(6): e0178775, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28582418

RESUMO

Cervical degenerative disease is one of the most common spinal disorders worldwide, especially in older people. Anterior cervical corpectomy and fusion (ACCF) is a useful method for the surgical treatment of multi-level cervical degenerative disease. Anterior cervical disc replacement (ACDR) is considered as an alternative surgical method. However, both methods have drawbacks, particularly the neck motion decrease observed after arthrodesis, and arthroplasty should only be performed on patients presenting with cervical disc disease but without any vertebral body disease. Therefore, we designed a non-fusion cervical joint system, namely an artificial cervical vertebra and intervertebral complex (ACVC), to provide a novel treatment for multi-level cervical degenerative disease. To enhance the long-term stability of ACVC, we applied a hydroxyapatite (HA) biocoating on the surface of the artificial joint. Thirty-two goats were randomly divided into four groups: a sham control group, an ACVC group, an ACVC-HA group, and an ACCF group (titanium and plate fixation group). We performed the prosthesis implantation in our previously established goat model. We compared the clinical, radiological, biomechanical, and histological outcomes among these four different groups for 24 weeks post surgery. The goats successfully tolerated the entire experimental procedure. The kinematics data for the ACVC and ACVC-HA groups were similar. The range of motion (ROM) in adjacent level increased after ACCF but was not altered after ACVC or ACVC-HA implantation. Compared with the control group, no significant difference was found in ROM and neutral zone (NZ) in flexion-extension or lateral bending for the ACVC and ACVC-HA groups, whereas the ROM and NZ in rotation were significantly greater. Compared with the ACCF group, the ROM and NZ significantly increased in all directions. Overall, stiffness was significantly decreased in the ACVC and ACVC-HA groups compared with the control group and the ACCF group. Similar results were found after a fatigue test of 5,000 repetitions of axial rotation. The histological results showed more new bone formation and better bone implant contact in the ACVC-HA group than the ACVC group. Goat is an excellent animal model for cervical spine biomechanical study. Compared with the intact state and the ACCF group, ACVC could provide immediate stability and preserve segmental movement after discectomy and corpectomy. Besides, HA biocoating provide a better bone ingrowth, which is essential for long-term stability. In conclusion, ACVC-HA brings new insight to treat cervical degenerative disease.


Assuntos
Vértebras Cervicais/cirurgia , Materiais Revestidos Biocompatíveis/uso terapêutico , Durapatita/uso terapêutico , Disco Intervertebral/cirurgia , Substituição Total de Disco/métodos , Animais , Fenômenos Biomecânicos/fisiologia , Placas Ósseas , Feminino , Cabras , Humanos , Masculino , Modelos Animais , Implantação de Prótese , Amplitude de Movimento Articular/fisiologia
14.
Opt Express ; 25(2): 1185-1192, 2017 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-28158003

RESUMO

We introduce a chemical reflow method to fabricate diamond microlenses. First, photoresist pillars developed by photolithography are reflowed in organic solvent vapor atmosphere at 20 °C to form spherical segment patterns on diamond substrate. The effects of chemical solvent type and reflow time on photoresist pattern profiles are investigated. Second, via dry etching, diamond microlenses are fabricated by transferring the spherical segment pattern into substrate. Furthermore, these diamond microlenses demonstrate low numerical aperture, well-controllable curvature, and good imaging performance with projecting experiment.

15.
Int J Gynecol Cancer ; 27(2): 339-343, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27870701

RESUMO

BACKGROUND: Cervical cancer is the second most common cancer among women worldwide. The potential of microRNAs as novel biomarkers in cervical cancer is growing. OBJECTIVES: In this study, we investigated the functions and targets of miR-466 in cervical cancer tissues. METHODS: Fresh cervical tissues were obtained from 157 patients with cervical cancer, cervical intraepithelial neoplasia (CIN), and healthy controls, and the tissues were immediately frozen in liquid nitrogen until use. The RNA was extracted and quantitative real-time polymerase chain reaction (PCR) was performed. RESULTS: A total of 157 participants were summarized, including 56 patients with cervical cancer, 60 patients with CIN, and 49 healthy controls. The expression levels of miR-466 in cervical cancers (0.68) were higher than that in healthy controls (0.082) (P < 0.01). The average fold changes of miR-466 in the patients with CIN group and people group were 0.28 and 0.082, respectively (P < 0.01). It was a statistically significant difference in patients with lymph node involvement (P = 0.022). However, the expression of miR-466 was not correlated with International Federation of Gynecology and Obstetrics stages, tumor size, or vascular invasion (P = 0.506, P = 0.667, and P = 0.108, respectively). CONCLUSIONS: Our results indicate that the aberrant expression of miR-466 is closely associated with the occurrence and development of cervical cancer.


Assuntos
Biomarcadores Tumorais/biossíntese , Biomarcadores Tumorais/genética , Neoplasia Intraepitelial Cervical/genética , MicroRNAs/biossíntese , Neoplasias do Colo do Útero/genética , Adulto , Idoso , Estudos de Casos e Controles , Neoplasia Intraepitelial Cervical/metabolismo , Neoplasia Intraepitelial Cervical/patologia , Feminino , Humanos , MicroRNAs/genética , Pessoa de Meia-Idade , RNA Neoplásico/genética , Reação em Cadeia da Polimerase em Tempo Real , Neoplasias do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/patologia
16.
Chin J Integr Med ; 22(11): 817-822, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27783321

RESUMO

OBJECTIVE: To explore the mechanism of Bushen Qiangji Granule (, BSQJ) in restraining the osteogenic differentiation of ankylosing spondylitis (AS) fifibroblasts. METHODS: Hip joint capsules were obtained from AS patients (n=10) receiving total hip replacement and healthy hip joint capsules from patients with hip fracture (n=10) receiving surgery as a control. Finite fifibroblast lines were established from these tissue samples to observe the effect of BSQJ on suppressing osteogenic differentiation of fifibroblasts. The expression of osteogenic marker gene corebinding factor a1 (Cbfa1) and Smad family proteins were examined by Western blot and real-time quantitative polymerase chain reaction (qPCR). RESULTS: The mRNA expression level of Cbfa1 was significantly higher in AS fibroblasts than that in normal fibroblasts and the expression of pSmad1, pSmad5, Smad4 and Cbfa1 in AS fibroblasts was also higher, demonstrating the activation of the BMP/Smads signal pathway in AS fifibroblasts. BSQJ-medicated serum not only restrained the mRNA and protein expression levels of Cbfa1 and inhibited protein expression level of Smad4 but also decreased the expression quantities of pSmad1 and pSmad5. CONCLUSIONS: BSQJ can inhibit osteogenic differentiation of AS fifibroblasts in vitro by suppressing the activation of the BMP/Smads signal pathway. This may be the important molecular mechanism of BSQJ in regulating AS ossifification.


Assuntos
Proteínas Morfogenéticas Ósseas/metabolismo , Diferenciação Celular/efeitos dos fármacos , Medicamentos de Ervas Chinesas/farmacologia , Fibroblastos/patologia , Osteogênese/efeitos dos fármacos , Soro/metabolismo , Proteínas Smad/metabolismo , Espondilite Anquilosante/patologia , Adulto , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Humanos , Pessoa de Meia-Idade , Osteogênese/genética , Fosforilação/efeitos dos fármacos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transdução de Sinais/efeitos dos fármacos , Espondilite Anquilosante/genética , Adulto Jovem
17.
Artigo em Inglês | MEDLINE | ID: mdl-24938096

RESUMO

Flour beetles of the genus Tribolium are all pests of stored products and cause severe economic losses every year. The American black flour beetle Tribolium audax is one of the important pest species of flour beetle, and it is also an important quarantine insect. Here we sequenced and characterized the complete mitochondrial genome of T. audax, which was intercepted by Huangpu Custom in maize from America. The complete circular mitochondrial genome (mitogenome) of T. audax was 15,924 bp in length, containing 37 typical coding genes and one non-coding AT-rich region. The mitogenome of T. audax exhibits a gene arrangement and content identical to the most common type in insects. All protein coding genes (PCGs) are start with a typical ATN initiation codon, except for the cox1, which use AAC as its start codon instead of ATN. Eleven genes use standard complete termination codon (nine TAA, two TAG), whereas the nad4 and nad5 genes end with single T. Except for trnS1 (AGN), all tRNA genes display typical secondary cloverleaf structures as those of other insects. The sizes of the large and small ribosomal RNA genes are 1288 and 780 bp, respectively. The AT content of the AT-rich region is 81.36%. The 5 bp conserved motif TACTA was found in the intergenic region between trnS2 (UCN) and nad1.


Assuntos
Besouros/genética , Genoma Mitocondrial/genética , Tribolium/genética , Sequência Rica em At/genética , Animais , Ordem dos Genes/genética , Filogenia , RNA de Transferência/genética , Análise de Sequência de DNA/métodos , Estados Unidos
18.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(5): 3466-8, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26242721

RESUMO

The complete circular mitochondrial genome (mitogenome) of Coptotermes testaceus is 15 752bp in size, containing 37 typical genes and one non-coding AT-rich region. The AT content of the AT-rich region is 68.3%. All protein coding genes (PCGs) start with standard ATN initiation codons and end with complete termination codons TAA or TAG except for cox2, atp8, and nad5 genes using an incomplete stop codon T. tRNA genes are predicted with a characteristic cloverleaf secondary structure except for trnS1(()(AGN)()), whose dihydrouridine (DHU) arm is replaced by a simple loop. The size of the large and small ribosomal RNA genes are 1315 and 818 bp, respectively. Phylogenetic analysis found that (i) the C. testaceus clade formed the sister group with another clade containing Coptotermes lacteus and Coptotermes formosanus; and (ii) Coptotermes lacteus had a close relationship with Coptotermes clade, but with lower credibility than other clades, the bootstrap value was 97%.


Assuntos
Genoma Mitocondrial , Isópteros/genética , Mitocôndrias/genética , Análise de Sequência de DNA/métodos , Animais , Composição de Bases , DNA Ribossômico/genética , Ordem dos Genes , Tamanho do Genoma , Filogenia , RNA de Transferência/genética
19.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(5): 3297-8, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-25693711

RESUMO

Flour beetles of the genus Tribolium are economically important as destructive cosmopolitan pests of stored flour, corn, peanuts, and other dried agricultural products. The confused flour beetle Tribolium confusum Jacquelin du Val (1868) is one of the most important pest species of flour beetle. Here we sequenced and characterized the complete mitochondrial genome of T. confusum, the entire sequence is 15,813 bp in size with 72.8% AT content. It consists of 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA), 2 ribosomal RNA (rRNA) genes and one major non-coding AT-rich region. The mitogenome of T. confusum exhibits a gene arrangement and content identical to the most common type in insects. All PCGs are start with a typical ATN initiation codon, except for the cox1, which use AAC as its start codon instead of ATN. Ten genes use standard complete termination codon (six TAA, three TAG), whereas the cox2, cox3, nad4 and nad5 genes end with single T. Except for trnS1 ((AGN)), all tRNA genes display typical secondary cloverleaf structures as those of other insects. The sizes of the large and small ribosomal RNA genes are 1277 and 773 bp, respectively. The AT content of the AT-rich region is 79.5%. The 5 bp conserved motif TACTA was found in the intergenic region between trnS2 ((UCN)) and nad1.


Assuntos
Genoma Mitocondrial , Tribolium/genética , Animais , Composição de Bases , Códon de Iniciação/genética , Códon de Terminação/genética , Sequência Conservada , DNA Intergênico/química , DNA Intergênico/genética , Proteínas de Insetos/genética , RNA Ribossômico/genética , RNA de Transferência/genética
20.
J Clin Endocrinol Metab ; 100(1): E173-81, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25361180

RESUMO

CONTEXT: T4-binding globulin (TBG), a protein secreted by the liver, is the main thyroid hormone (TH) transporter in human serum. TBG deficiency is characterized by reduced serum TH levels, but normal free TH and TSH and absent clinical manifestations. The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. OBJECTIVE: Among the 75 families with X-chromosome-linked TBG deficiency identified in our laboratory, no mutations in the TBG gene were found in four families. The aim of the study was to identify the mechanism of TBG deficiency in these four families using biochemical and genetic studies. DESIGN: Observational cohort, prospective. SETTING: University research center. PATIENTS: Four families with inherited TBG deficiency and no mutations in the TBG gene. INTERVENTION: Clinical evaluation, thyroid function tests, and targeted resequencing of 1 Mb of the X-chromosome. RESULTS: Next-generation sequencing identified a novel G to A variant 20 kb downstream of the TBG gene in all four families. In silico analysis predicted that the variant resides within a liver-specific enhancer. In vitro studies confirmed the enhancer activity of a 2.2-kb fragment of genomic DNA containing the novel variant and showed that the mutation reduces the activity of this enhancer. The affected subjects share a haplotype of 8 Mb surrounding the mutation, and the most recent common ancestor among the four families was estimated to be 19.5 generations ago (95% confidence intervals, 10.4-37). CONCLUSIONS: To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region.


Assuntos
Elementos Facilitadores Genéticos , Fígado/metabolismo , Mutação , Globulina de Ligação a Tiroxina/genética , Adolescente , Adulto , Criança , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Doenças da Glândula Tireoide/genética , Doenças da Glândula Tireoide/metabolismo , Globulina de Ligação a Tiroxina/metabolismo , Adulto Jovem
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