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1.
Sci Rep ; 14(1): 13694, 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38871983

RESUMO

We present quad-layered reflective structural color filters generating vivid additive primary colors by controlling a mode number in a Fabry-Perot (FP) cavity and an anti-reflective (AR) coating layer, thus accomplishing high spectral contrast which is highly demanded in creating sharp colors. The reflection brightness of fabricated structural color filters is over 78% and a color gamut is comparable to the standard color gamut (sRGB). Higher-order resonant modes are exploited yielding a narrow passband with strong suppression of the reflection at shorter and longer wavelength ranges for a green color, while red and blue colors are produced by employing fundamental resonant modes. Besides, the structural color filters maintain both high brightness and high color purity at oblique incidence angles up to 40° due to a small angle of refraction by a cavity medium with high refractive index. Moreover, a large-scale fabrication is enabled owing to the simplicity of a device structure, where thin film deposition is used. The scheme presented in this work may open the door to a number of applications, such as reflective displays, imaging devices, colored photovoltaics, and decorations.

2.
J Exp Med ; 221(2)2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38189780

RESUMO

The dynamic folding of genomes regulates numerous biological processes, including antigen receptor (AgR) gene assembly. We show that, unlike other AgR loci, homotypic chromatin interactions and bidirectional chromosome looping both contribute to structuring Tcrb for efficient long-range V(D)J recombination. Inactivation of the CTCF binding element (CBE) or promoter at the most 5'Vß segment (Trbv1) impaired loop extrusion originating locally and extending to DßJß CBEs at the opposite end of Tcrb. Promoter or CBE mutation nearly eliminated Trbv1 contacts and decreased RAG endonuclease-mediated Trbv1 recombination. Importantly, Trbv1 rearrangement can proceed independent of substrate orientation, ruling out scanning by DßJß-bound RAG as the sole mechanism of Vß recombination, distinguishing it from Igh. Our data indicate that CBE-dependent generation of loops cooperates with promoter-mediated activation of chromatin to juxtapose Vß and DßJß segments for recombination through diffusion-based synapsis. Thus, the mechanisms that fold a genomic region can influence molecular processes occurring in that space, which may include recombination, repair, and transcriptional programming.


Assuntos
Cromatina , Receptores de Antígenos , Cromatina/genética , Endonucleases , Mutação , Regiões Promotoras Genéticas/genética , Receptores de Antígenos de Linfócitos T alfa-beta/genética
3.
Sci Rep ; 13(1): 20649, 2023 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-38001140

RESUMO

Dielectric scatterers where Mie resonances can be excited in both electric and magnetic modes have emerged as a promising candidate for efficient light trapping (LT) in thin-film solar cells. We present that light absorption in organic solar cells (OSCs) can be significantly enhanced by a front-sided incorporation of a core-shell nanostructure consisting of a high-refractive-index dielectric nanosphere array conformally coated with a low-refractive-index dielectric layer. Strong forward light scattering of the all-dielectric LT structure enables the absorption in an organic semiconductor to be remarkably boosted over a broad range of wavelengths, which is attributed to interference of a simultaneous excitation of the electric and magnetic dipole resonant modes. The OSC with the LT structure shows the short-circuit current density (Jsc) of 28.23 mA/cm2, which is 10% higher than that of a flat OSC. We also explore how the LT structure affects scattering cross-sections, spectral multipole resonances, and far-field radiation patterns. The approach described in this work could offer the possibility for the improvement of characteristic performances of various applications, such as other thin-film solar cells, photodiodes, light-emitting diodes, and absorbers.

4.
Science ; 382(6668): 299-305, 2023 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-37856614

RESUMO

Understanding the ultrafast excitation and transport dynamics of plasmon-driven hot carriers is critical to the development of optoelectronics, photochemistry, and solar-energy harvesting. However, the ultrashort time and length scales associated with the behavior of these highly out-of-equilibrium carriers have impaired experimental verification of ab initio quantum theories. Here, we present an approach to studying plasmonic hot-carrier dynamics that analyzes the temporal waveform of coherent terahertz bursts radiated by photo-ejected hot carriers from designer nano-antennas with a broken symmetry. For ballistic carriers ejected from gold antennas, we find an ~11-femtosecond timescale composed of the plasmon lifetime and ballistic transport time. Polarization- and phase-sensitive detection of terahertz fields further grant direct access to their ballistic transport trajectory. Our approach opens explorations of ultrafast carrier dynamics in optically excited nanostructures.

5.
Sensors (Basel) ; 23(7)2023 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-37050700

RESUMO

Home appliances are considered to account for a large portion of smart homes' energy consumption. This is due to the abundant use of IoT devices. Various home appliances, such as heaters, dishwashers, and vacuum cleaners, are used every day. It is thought that proper control of these home appliances can reduce significant amounts of energy use. For this purpose, optimization techniques focusing mainly on energy reduction are used. Current optimization techniques somewhat reduce energy use but overlook user convenience, which was the main goal of introducing home appliances. Therefore, there is a need for an optimization method that effectively addresses the trade-off between energy saving and user convenience. Current optimization techniques should include weather metrics other than temperature and humidity to effectively optimize the energy cost of controlling the desired indoor setting of a smart home for the user. This research work involves an optimization technique that addresses the trade-off between energy saving and user convenience, including the use of air pressure, dew point, and wind speed. To test the optimization, a hybrid approach utilizing GWO and PSO was modeled. This work involved enabling proactive energy optimization using appliance energy prediction. An LSTM model was designed to test the appliances' energy predictions. Through predictions and optimized control, smart home appliances could be proactively and effectively controlled. First, we evaluated the RMSE score of the predictive model and found that the proposed model results in low RMSE values. Second, we conducted several simulations and found the proposed optimization results to provide energy cost savings used in appliance control to regulate the desired indoor setting of the smart home. Energy cost reduction goals using the optimization strategies were evaluated for seasonal and monthly patterns of data for result verification. Hence, the proposed work is considered a better candidate solution for proactively optimizing the energy of smart homes.

6.
Nanomaterials (Basel) ; 13(5)2023 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-36903704

RESUMO

An enhancement of the local electric field at the metal/dielectric interface of hybrid materials due to the localized surface plasmon resonance (LSPR) phenomenon plays a particularly important role in versatile research fields resulting in a distinct modification of the electrical, as well as optical, properties of the hybrid material. In this paper, we succeeded in visually confirming the LSPR phenomenon in the crystalline tris(8-hydroxyquinoline) aluminum (Alq3) micro-rod (MR) hybridized with silver (Ag) nanowire (NW) in the form of photoluminescence (PL) characteristics. Crystalline Alq3 MRs were prepared by a self-assembly method under the mixed solution of protic and aprotic polar solvents, which could be easily applied to fabricate hybrid Alq3/Ag structures. The hybridization between the crystalline Alq3 MRs and Ag NWs was confirmed by the component analysis of the selected area electronic diffraction attached to high-resolution transmission electron microscope. Nanoscale and solid state PL experiments on the hybrid Alq3/Ag structures using a lab-made laser confocal microscope exhibited a distinct enhancement of the PL intensity (approximately 26-fold), which also supported the LSPR effects between crystalline Alq3 MRs and Ag NWs.

7.
Adv Sci (Weinh) ; 10(8): e2205434, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36658727

RESUMO

Ultrafast optical switching in plasmonic platforms relies on the third-order Kerr nonlinearity, which is tightly linked to the dynamics of hot carriers in nanostructured metals. Although extensively utilized, a fundamental understanding on the dependence of the switching dynamics upon optical resonances has often been overlooked. Here, all-optical control of resonance bands in a hybrid photonic-plasmonic crystal is employed as an empowering technique for probing the resonance-dependent switching dynamics upon hot carrier formation. Differential optical transmission measurements reveal an enhanced switching performance near the anti-crossing point arising from strong coupling between local and nonlocal resonance modes. Furthermore, entangled with hot-carrier dynamics, the nonlinear correspondence between optical resonances and refractive index change results in tailorable dispersion of recovery speeds which can notably deviate from the characteristic lifetime of hot carriers. The comprehensive understanding provides new protocols for optically characterizing hot-carrier dynamics and optimizing resonance-based all-optical switches for operations across the visible spectrum.

8.
Polymers (Basel) ; 14(9)2022 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-35567014

RESUMO

We experimentally demonstrate the direct visualization of ultraviolet (UV) light using flexible polymer composite films consisting of crystalline organic tris-(8-hydroxyquinoline) aluminum (Alq3) micro-rods and polydimethylsiloxane (PDMS). The representative organic mono-molecule Alq3, which is a core material of organic light-emitting diodes, was used to detect light in the invisible UV region and visualize photoluminescence (PL). Alq3 shows absorption in the UV region and light-emitting characteristics in the green region, making it an optimal material for UV visualization because of its large Stokes transition. Crystalline Alq3 micro-rods were fabricated in a deionized water solution through a sequential process of reprecipitation and self-assembly. Highly bright photoluminescence was observed on the highly crystalline Alq3 micro-rods under UV light excitation, indicating that the crystalline structures of Alq3 molecules affect the visible emission decay of excitons. The Alq3 micro-rods were manufactured as flexible polymer composite films using a PDMS solution to observe UV photodetector characteristics according to UV intensity, and it was confirmed that the intensity of the fine UV light reaching the earth's surface can be visualized by making use of this UV photodetector.

9.
Sensors (Basel) ; 22(9)2022 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-35591121

RESUMO

In this paper we demonstrate strain-dependent photoacoustic (PA) characteristics of free-standing nanocomposite transmitters that are made of carbon nanotubes (CNT) and candle soot nanoparticles (CSNP) with an elastomeric polymer matrix. We analyzed and compared PA output performances of these transmitters which are prepared first on glass substrates and then in a delaminated free-standing form for strain-dependent characterization. This confirms that the nanocomposite transmitters with lower concentration of nanoparticles exhibit more flexible and stretchable property in terms of Young's modulus in a range of 4.08-10.57 kPa. Then, a dynamic endurance test was performed revealing that both types of transmitters are reliable with pressure amplitude variation as low as 8-15% over 100-800 stretching cycles for a strain level of 5-28% with dynamic endurance in range of 0.28-2.8%. Then, after 2000 cycles, the transmitters showed pressure amplitude variation of 6-29% (dynamic endurance range of 0.21-1.03%) at a fixed strain level of 28%. This suggests that the free-standing nanocomposite transmitters can be used as a strain sensor under a variety of environments providing robustness under repeated stretching cycles.


Assuntos
Nanocompostos , Nanopartículas , Nanotubos de Carbono , Dispositivos Eletrônicos Vestíveis , Módulo de Elasticidade , Nanocompostos/química , Nanotubos de Carbono/química
10.
Opt Express ; 30(7): 11740-11753, 2022 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-35473111

RESUMO

We present an improved color purity of additive transmissive structural color filters by controlling a resonance order and by inserting a highly absorbing material. The proposed structure consists of a single metal sandwiched by two transparent dielectric media serving as a cavity to minimize the ohmic loss in the metal mirrors, which is distinctly different from a conventional Fabry-Perot (FP) cavity that is in general designed to have two metal mirrors. Low reflections at an air-dielectric interface cause a quality-factor of a resonance to be reduced, causing a degraded color purity, which can be improved by employing a 1st order resonance that exhibits a narrower bandwidth than a fundamental FP resonant mode (0th order). For a red color with the improved purity, introducing an ultrathin absorbing layer in the middle of a top cavity enables the 1st resonance to be trivially influenced while selectively suppressing a 2nd order resonance appearing at the shorter wavelength region. Moreover, angle-insensitive performances up to 60° are attained by utilizing a cavity material with high index of refraction. Besides, the fabrication of the structural coloring devices involves a few deposition steps, thus rendering the approach suitable for applications over the large area. The described concept could be applied to diverse applications, such as colored solar panels, sensors, imaging devices, and decorations.

11.
ACS Nano ; 16(3): 3926-3933, 2022 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-35157437

RESUMO

The conventional process for developing an optimal design for nonlinear optical responses is based on a trial-and-error approach that is largely inefficient and does not necessarily lead to an ideal result. Deep learning can automate this process and widen the realm of nonlinear geometries and devices. This research illustrates a deep learning framework used to create an optimal plasmonic design for a nonlinear metamaterial. The algorithm produces a plasmonic pattern that can maximize the second-order nonlinear effect of a nonlinear metamaterial. A nanolaminate metamaterial is used as a nonlinear material, and plasmonic patterns are fabricated on the prepared nanolaminate to demonstrate the validity and efficacy of the deep learning algorithm. The optimal pattern produced yielded second-harmonic generation from the nanolaminate with normal incident fundamental light. The deep learning architecture applied in this research can be expanded to other optical responses and light-matter interaction processes.

12.
Sensors (Basel) ; 23(1)2022 Dec 23.
Artigo em Inglês | MEDLINE | ID: mdl-36616725

RESUMO

Energy consumption is increasing daily, and with that comes a continuous increase in energy costs. Predicting future energy consumption and building an effective energy management system for smart homes has become essential for many industrialists to solve the problem of energy wastage. Machine learning has shown significant outcomes in the field of energy management systems. This paper presents a comprehensive predictive-learning based framework for smart home energy management systems. We propose five modules: classification, prediction, optimization, scheduling, and controllers. In the classification module, we classify the category of users and appliances by using k-means clustering and support vector machine based classification. We predict the future energy consumption and energy cost for each user category using long-term memory in the prediction module. We define objective functions for optimization and use grey wolf optimization and particle swarm optimization for scheduling appliances. For each case, we give priority to user preferences and indoor and outdoor environmental conditions. We define control rules to control the usage of appliances according to the schedule while prioritizing user preferences and minimizing energy consumption and cost. We perform experiments to evaluate the performance of our proposed methodology, and the results show that our proposed approach significantly reduces energy cost while providing an optimized solution for energy consumption that prioritizes user preferences and considers both indoor and outdoor environmental factors.


Assuntos
Algoritmos , Aprendizado de Máquina
13.
Opt Express ; 29(22): 35366-35376, 2021 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-34808972

RESUMO

Arrays of high-index dielectric nanoparticles supporting both electrical and magnetic resonances have gained increasing attention for their excellent light-trapping (LT) effects, thus greatly improving the performance of ultrathin solar cells. This work explores front-located, high-index dielectric subwavelength nanosphere arrays as an efficient and broadband LT structure patterned on top of an ultrathin perovskite solar cell (PSC) for a greatly enhanced absorption. Combined strong light scattering and anti-reflection properties achieved by optimized geometrical parameters of the LT structure lead to a broadband absorption enhancement in the ultrathin thickness of a photoactive layer (100 nm) yielding the short-circuit current density (Jsc) of 18.7 mA/cm2, which is 31.7% higher than that of a planar counterpart. Moreover, effects of the LT structure on far-field radiation patterns, scattering cross-sections, multipoles' contributions, and asymmetry parameters along with the incidence angle and polarization dependence are investigated. The present strategy could be applied to diverse applications, such as other ultrathin or semitransparent solar cells, absorbers and photodetectors.

14.
Nucleic Acids Res ; 49(17): 9768-9782, 2021 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-34428304

RESUMO

Polycomb complexes have traditionally been prescribed roles as transcriptional repressors, though increasing evidence demonstrate they can also activate gene expression. However, the mechanisms underlying positive gene regulation mediated by Polycomb proteins are poorly understood. Here, we show that RING1B, a core component of Polycomb Repressive Complex 1, regulates enhancer-promoter interaction of the bona fide estrogen-activated GREB1 gene. Systematic characterization of RNA:DNA hybrid formation (R-loops), nascent transcription and RNA Pol II activity upon estrogen administration revealed a key role of RING1B in gene activation by regulating R-loop formation and RNA Pol II elongation. We also found that the estrogen receptor alpha (ERα) and RNA are both necessary for full RING1B recruitment to estrogen-activated genes. Notably, RING1B recruitment was mostly unaffected upon RNA Pol II depletion. Our findings delineate the functional interplay between RING1B, RNA and ERα to safeguard chromatin architecture perturbations required for estrogen-mediated gene regulation and highlight the crosstalk between steroid hormones and Polycomb proteins to regulate oncogenic programs.


Assuntos
Elementos Facilitadores Genéticos , Estradiol/fisiologia , Complexo Repressor Polycomb 1/metabolismo , Regiões Promotoras Genéticas , Estruturas R-Loop , Ativação Transcricional , Linhagem Celular , Cromatina/metabolismo , Receptor alfa de Estrogênio/metabolismo , Humanos , RNA/metabolismo
15.
Sensors (Basel) ; 21(4)2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33671855

RESUMO

In this study, a technique facilitating the enhanced detection of airborne volcanic ash (VA) has been developed, which is based on the use of visible (VIS), near-infrared (NIR), and infrared (IR) bands by meteorological satellite systems. Channels with NIR and IR bands centered at ~3.8, 7.3, 8.7, 10.5, and 12.3 µm are utilized, which enhances the accuracy of VA detection. The technique is based on two-band brightness temperature differences (BTDs), two-band brightness temperature ratios (BTRs), and background image BTDs. The physical effects of the observed BTDs and BTRs, which can be used to distinguish VA from meteorological clouds based on absorption differences, depend on the channel and time of day. The Advanced Meteorological Imager onboard the GEOKOMPSAT-2A (GK-2A) satellite has several advantages, including the day- and nighttime detection of land and ocean. Based on the GK-2A data on several volcanic eruptions, multispectral data are more sensitive to volcanic clouds than ice and water clouds, ensuring the detection of VA. They can also be used as an input to provide detailed information about volcanoes, such as the height of the VA layer and VA mass. The GK-2A was optimized, and an improved ash algorithm was established by focusing on the volcanic eruptions that occurred in 2020. In particular, the 3.8 µm band was utilized, the threshold was changed by division between day and night, and efforts were made to reduce the effects of clouds and the discontinuity between land and ocean. The GK-2A imagery was used to study volcanic clouds related to the eruptions of Taal, Philippines, on 12 January and Nishinoshima, Japan, from 30 July-2 August to demonstrate the applicability of this product during volcanic events. The improved VA product of GK-2A provides vital information, helping forecasters to locate VA as well as guidance for the aviation industry in preventing dangerous and expensive interactions between aircrafts and VA.

16.
Nanomaterials (Basel) ; 10(7)2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32630839

RESUMO

We investigate the quantum confinement effects on excitons in several types of strain-free GaAs/Al 0 . 3 Ga 0 . 7 As droplet epitaxy (DE) quantum dots (QDs). By performing comparative analyses of energy-dispersive X-ray spectroscopy with the aid of a three-dimensional (3D) envelope-function model, we elucidate the individual quantum confinement characteristics of the QD band structures with respect to their composition profiles and the asymmetries of their geometrical shapes. By precisely controlling the exciton oscillator strength in strain-free QDs, we envisage the possibility of tailoring light-matter interactions to implement fully integrated quantum photonics based on QD single-photon sources (SPSs).

17.
J Exp Med ; 217(9)2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32526772

RESUMO

The monoallelic expression of antigen receptor (AgR) genes, called allelic exclusion, is fundamental for highly specific immune responses to pathogens. This cardinal feature of adaptive immunity is achieved by the assembly of a functional AgR gene on one allele, with subsequent feedback inhibition of V(D)J recombination on the other allele. A range of epigenetic mechanisms have been implicated in sequential recombination of AgR alleles; however, we now demonstrate that a genetic mechanism controls this process for Tcrb. Replacement of V(D)J recombinase targets at two different mouse Vß gene segments with a higher quality target elevates Vß rearrangement frequency before feedback inhibition, dramatically increasing the frequency of T cells with TCRß chains derived from both Tcrb alleles. Thus, TCRß allelic exclusion is enforced genetically by the low quality of Vß recombinase targets that stochastically restrict the production of two functional rearrangements before feedback inhibition silences one allele.


Assuntos
Alelos , Sinais Direcionadores de Proteínas , Receptores de Antígenos de Linfócitos T alfa-beta/genética , Recombinação V(D)J/genética , Animais , Sequência de Bases , Retroalimentação Fisiológica , Regulação da Expressão Gênica , Hibridomas , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Ligação Proteica , Proteínas Proto-Oncogênicas c-fos/metabolismo , Linfócitos T/citologia , Timócitos/citologia
18.
J Immunol ; 204(10): 2617-2626, 2020 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-32366683

RESUMO

The past decade has increased our understanding of how genome topology controls RAG endonuclease-mediated assembly of lymphocyte AgR genes. New technologies have illuminated how the large IgH, Igκ, TCRα/δ, and TCRß loci fold into compact structures that place their numerous V gene segments in similar three-dimensional proximity to their distal recombination center composed of RAG-bound (D)J gene segments. Many studies have shown that CTCF and cohesin protein-mediated chromosome looping have fundamental roles in lymphocyte lineage- and developmental stage-specific locus compaction as well as broad usage of V segments. CTCF/cohesin-dependent loops have also been shown to direct and restrict RAG activity within chromosome domains. We summarize recent work in elucidating molecular mechanisms that govern three-dimensional chromosome organization and in investigating how these dynamic mechanisms control V(D)J recombination. We also introduce remaining questions for how CTCF/cohesin-dependent and -independent genome architectural mechanisms might regulate compaction and recombination of AgR loci.


Assuntos
Linfócitos B/imunologia , Receptores de Antígenos/genética , Linfócitos T/imunologia , Recombinação V(D)J/genética , Animais , Fator de Ligação a CCCTC/metabolismo , Proteínas de Ciclo Celular/metabolismo , Montagem e Desmontagem da Cromatina , Proteínas Cromossômicas não Histona/metabolismo , Estruturas Cromossômicas , Loci Gênicos , Humanos , Conformação Molecular , Receptores de Antígenos/metabolismo , Coesinas
19.
Sci Rep ; 10(1): 5817, 2020 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-32242072

RESUMO

The non-aqueous asymmetric lithium ion hybrid capacitor (LIHC) is a tactical energy storage device composed of a faradic and non-faradic electrode pair, which aims to achieve both high energy and great power densities. On the other hand, the different types of electrode combinations cause severe imbalances in energy and power capabilities, leading to poor electrochemical performance. Herein, waste pinecone-derived hierarchically porous pyropolymers (WP-HPPs) were fabricated as a surface-driven pseudocapacitive electrode, which has the advantages of both faradic and non-faradic electrodes. The unique materials properties of WP-HPPs possessing high effective surface areas and hierarchically open nanopores led to high specific capacities of ~412 mA h g-1 and considerable rate/cycling performance as a cathode for LIHCs. In particular, nanometer-scale pores, approximately 3 nm in size, plays a key role in the pseudocapacitive charge storage behaviors because open nanopores can transport solvated Li-ions easily into the inside of complex carbon structures and a large specific surface area can be provided by the effective active surface for charge storage. In addition, WP-HPP-based asymmetric LIHCs assembled with a pseudocapacitive counterpart demonstrated feasible electrochemical performance, such as maximum specific energy and specific power of ~340 Wh kg-1 and ~11,000 W kg-1, respectively, with significant cycling stability.

20.
Immunohorizons ; 4(3): 119-128, 2020 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-32144186

RESUMO

The RAG1 and RAG2 proteins are essential for the assembly of Ag receptor genes in the process known as VDJ recombination, allowing for an immense diversity of lymphocyte Ag receptors. Congruent with their importance, RAG1 and RAG2 have been a focus of intense study for decades. To date, RAG1 has been studied as a single isoform; however, our identification of a spontaneous nonsense mutation in the 5' region of the mouse Rag1 gene lead us to discover N-truncated RAG1 isoforms made from internal translation initiation. Mice homozygous for the RAG1 nonsense mutation only express N-truncated RAG1 isoforms and have defects in Ag receptor rearrangement similar to human Omenn syndrome patients with truncating 5' RAG1 frameshift mutations. We show that the N-truncated RAG1 isoforms are derived from internal translation initiation start sites. Given the seemingly inactivating Rag1 mutation, it is striking that homozygous mutant mice do not have the expected SCID. We propose that evolution has garnered RAG1 and other important genes with the ability to form truncated proteins via internal translation to minimize the deleterious effects of 5' nonsense mutations. This mechanism of internal translation initiation is particularly important to consider when interpreting nonsense or frameshift mutations in whole-genome sequencing, as such mutations may not lead to loss of protein.


Assuntos
Códon sem Sentido , Genes RAG-1 , Proteínas de Homeodomínio/genética , Animais , Modelos Animais de Doenças , Células HEK293 , Homozigoto , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Iniciação Traducional da Cadeia Peptídica/genética , Isoformas de Proteínas , Imunodeficiência Combinada Severa/genética , Transfecção , Recombinação V(D)J/genética
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