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1.
Nat Rev Genet ; 17(11): 704-714, 2016 10 14.
Artículo en Inglés | MEDLINE | ID: mdl-27739533

RESUMEN

As one of the few cellular traits that can be quantified across the tree of life, DNA-replication fidelity provides an excellent platform for understanding fundamental evolutionary processes. Furthermore, because mutation is the ultimate source of all genetic variation, clarifying why mutation rates vary is crucial for understanding all areas of biology. A potentially revealing hypothesis for mutation-rate evolution is that natural selection primarily operates to improve replication fidelity, with the ultimate limits to what can be achieved set by the power of random genetic drift. This drift-barrier hypothesis is consistent with comparative measures of mutation rates, provides a simple explanation for the existence of error-prone polymerases and yields a formal counter-argument to the view that selection fine-tunes gene-specific mutation rates.


Asunto(s)
Evolución Biológica , Flujo Genético , Variación Genética/genética , Tasa de Mutación , Selección Genética/genética , Humanos , Modelos Genéticos
2.
Health Commun ; 37(9): 1167-1179, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-34320893

RESUMEN

End-stage renal disease (ESRD) is characterized by racial inequity; Blacks are 3 times more likely to develop ESRD than Whites. Transplant is the preferred treatment option since transplanted patients experience better clinical outcomes. Racial inequities persist at each of the steps required for transplantation. Despite the vast literature describing these racial inequities, it does not include dialysis patients' awareness and understanding of treatment options, specifically for transplant. To address this gap, we purposely sampled Blacks in Detroit who were receiving dialysis and who were not active on any transplant waitlist to investigate their understanding and perceptions of transplants. We used uncertainty management theory (UMT) to better understand perceived barriers to getting and remaining on a transplant waitlist. We aimed to address a critical gap in the literature to inform approaches addressing this enduring inequity. For this qualitative study, we conducted individual, semi-structured interviews with 24 Black ESRD patients, aged 34-73 years: 9 male and 15 female. Participants shared their experiences of being on dialysis, perceptions, and understanding of transplants. We describe two key findings: 1) uncertainty for these patients is prevalent and multi-layered and 2) social support can both dissuade an individual from pursuing transplant (i.e., reluctance to ask family members to be donors) and it can result in decreasing uncertainty (e.g., participants wanting to pursue transplant to be with family). We highlight the specific need to improve patient education regarding treatment options and enhancing how relevant health information can be communicated.


Asunto(s)
Fallo Renal Crónico , Trasplante de Riñón , Femenino , Humanos , Fallo Renal Crónico/cirugía , Trasplante de Riñón/educación , Masculino , Diálisis Renal , Donantes de Tejidos , Población Blanca
3.
Virol J ; 18(1): 206, 2021 10 18.
Artículo en Inglés | MEDLINE | ID: mdl-34663367

RESUMEN

As genetic analysis becomes less expensive, more comprehensive diagnostics such as whole genome sequencing (WGS) will become available to the veterinary practitioner. The WGS elucidates more about porcine reproductive and respiratory syndrome virus (PRRSV) beyond the traditional analysis of open reading frame (ORF) 5 Sanger sequencing. The veterinary practitioner will require a more complete understanding of the mechanics and consequences of PRRSV genetic variability to interpret the WGS results. More recently, PRRSV recombination events have been described in the literature. The objective of this review is to provide a comprehensive outlook for swine practitioners that PRRSV mutates and recombines naturally causing genetic variability, review the diagnostic cadence when suspecting recombination has occurred, and present theory on how, why, and where industry accepted management practices may influence recombination. As practitioners, it is imperative to remember that PRRS viral recombination is occurring continuously in swine populations. Finding a recombinant by diagnostic analysis does not ultimately declare its significance. The error prone replication, mutation, and recombination of PRRSV means exact clones may exist; but a quasispecies swarm of variable strains also exist adding to the genetic diversity. PRRSV nonstructural proteins (nsps) are translated from ORF1a and ORF1b. The arterivirus nsps modulate the hosts' immune response and are involved in viral pathogenesis. The strains that contribute the PRRSV replicase and transcription complex is driving replication and possibly recombination in the quasispecies swarm. Furthermore, mutations favoring the virus to evade the immune system may result in the emergence of a more fit virus. More fit viruses tend to become the dominant strains in the quasispecies swarm. In theory, the swine management practices that may exacerbate or mitigate recombination include immunization strategies, swine movements, regional swine density, and topography. Controlling PRRSV equates to managing the quasispecies swarm and its interaction with the host. Further research is warranted on the frequency of recombination and the genome characteristics impacting the recombination rate. With a well-defined understanding of these characteristics, the clinical implications from recombination can be detected and potentially reduced; thus, minimizing recombination and perhaps the emergence of epidemic strains.


Asunto(s)
Síndrome Respiratorio y de la Reproducción Porcina , Virus del Síndrome Respiratorio y Reproductivo Porcino , Animales , Variación Genética , Sistemas de Lectura Abierta , Síndrome Respiratorio y de la Reproducción Porcina/diagnóstico , Virus del Síndrome Respiratorio y Reproductivo Porcino/genética , Porcinos , Secuenciación Completa del Genoma
4.
Genome Res ; 26(1): 60-9, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26518480

RESUMEN

Knowledge of the genome-wide rate and spectrum of mutations is necessary to understand the origin of disease and the genetic variation driving all evolutionary processes. Here, we provide a genome-wide analysis of the rate and spectrum of mutations obtained in two Daphnia pulex genotypes via separate mutation-accumulation (MA) experiments. Unlike most MA studies that utilize haploid, homozygous, or self-fertilizing lines, D. pulex can be propagated ameiotically while maintaining a naturally heterozygous, diploid genome, allowing the capture of the full spectrum of genomic changes that arise in a heterozygous state. While base-substitution mutation rates are similar to those in other multicellular eukaryotes (about 4 × 10(-9) per site per generation), we find that the rates of large-scale (>100 kb) de novo copy-number variants (CNVs) are significantly elevated relative to those seen in previous MA studies. The heterozygosity maintained in this experiment allowed for estimates of gene-conversion processes. While most of the conversion tract lengths we report are similar to those generated by meiotic processes, we also find larger tract lengths that are indicative of mitotic processes. Comparison of MA lines to natural isolates reveals that a majority of large-scale CNVs in natural populations are removed by purifying selection. The mutations observed here share similarities with disease-causing, complex, large-scale CNVs, thereby demonstrating that MA studies in D. pulex serve as a system for studying the processes leading to such alterations.


Asunto(s)
Daphnia/genética , Eliminación de Gen , Duplicación de Gen , Tasa de Mutación , Animales , Variaciones en el Número de Copia de ADN , Evolución Molecular , Femenino , Estudios de Asociación Genética , Variación Genética , Heterocigoto , Masculino , Análisis de Secuencia de ADN
5.
Small ; 15(12): e1804920, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30767425

RESUMEN

Electronic eye cameras are receiving increasing interest due to their unique advantages such as wide field of view, low aberrations, and simple imaging optics compared to conventional planar focal plane arrays. However, the spectral sensing ranges of most electronic eyes are confined to the visible, which is limited by the energy gaps of the sensing materials and by fabrication obstacles. Here, a potential route leading to infrared electronic eyes is demonstrated by exploring flexible colloidal quantum dot (CQD) photovoltaic detectors. Benefitting from their tunable optical response and the ease of fabrication as solution processable materials, mercury telluride (HgTe) CQD detectors with mechanical flexibility, wide spectral sensing range, fast response, and high detectivity are demonstrated. A strategy is provided to further enhance the light absorption in flexible detectors by integrating a Fabry-Perot resonant cavity. Integrated short-wave IR detectors on flexible substrates have peak D* of 7.5 × 1010 Jones at 2.2 µm at room temperature and promise the development of infrared electronic eyes with high-resolution imaging capability. Finally, infrared images are captured with the flexible CQD detectors at varying bending conditions, showing a practical approach to sensitive infrared electronic eyes beyond the visible range.

6.
Mol Biol Evol ; 32(9): 2383-92, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25976352

RESUMEN

Deinococcus bacteria are extremely resistant to radiation, oxidation, and desiccation. Resilience to these factors has been suggested to be due to enhanced damage prevention and repair mechanisms, as well as highly efficient antioxidant protection systems. Here, using mutation-accumulation experiments, we find that the GC-rich Deinococcus radiodurans has an overall background genomic mutation rate similar to that of E. coli, but differs in mutation spectrum, with the A/T to G/C mutation rate (based on a total count of 88 A:T → G:C transitions and 82 A:T → C:G transversions) per site per generation higher than that in the other direction (based on a total count of 157 G:C → A:T transitions and 33 G:C → T:A transversions). We propose that this unique spectrum is shaped mainly by the abundant uracil DNA glycosylases reducing G:C → A:T transitions, adenine methylation elevating A:T → C:G transversions, and absence of cytosine methylation decreasing G:C → A:T transitions. As opposed to the greater than 100× elevation of the mutation rate in MMR(-) (DNA Mismatch Repair deficient) strains of most other organisms, MMR(-) D. radiodurans only exhibits a 4-fold elevation, raising the possibility that other DNA repair mechanisms compensate for a relatively low-efficiency DNA MMR pathway. As D. radiodurans has plentiful insertion sequence (IS) elements in the genome and the activities of IS elements are rarely directly explored, we also estimated the insertion (transposition) rate of the IS elements to be 2.50 × 10(-3) per genome per generation in the wild-type strain; knocking out MMR did not elevate the IS element insertion rate in this organism.


Asunto(s)
ADN Bacteriano/genética , Deinococcus/genética , Proteínas Bacterianas/genética , Daño del ADN , Metilación de ADN , Reparación del ADN , Deinococcus/enzimología , Genes Bacterianos , Flujo Genético , Mutagénesis Insercional , Tasa de Mutación , Plásmidos/genética , Mutación Puntual , Tolerancia a Radiación , Uracil-ADN Glicosidasa/genética
7.
Mol Biol Evol ; 32(7): 1672-83, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25750180

RESUMEN

Despite the general assumption that site-specific mutation rates are independent of the local sequence context, a growing body of evidence suggests otherwise. To further examine context-dependent patterns of mutation, we amassed 5,645 spontaneous mutations in wild- type (WT) and mismatch-repair deficient (MMR(-)) mutation-accumulation (MA) lines of the gram-positive model organism Bacillus subtilis. We then analyzed>7,500 spontaneous base-substitution mutations across B. subtilis, Escherichia coli, and Mesoplasma florum WT and MMR(-) MA lines, finding a context-dependent mutation pattern that is asymmetric around the origin of replication. Different neighboring nucleotides can alter site-specific mutation rates by as much as 75-fold, with sites neighboring G:C base pairs or dimers involving alternating pyrimidine-purine and purine-pyrimidine nucleotides having significantly elevated mutation rates. The influence of context-dependent mutation on genome architecture is strongest in M. florum, consistent with the reduced efficiency of selection in organisms with low effective population size. If not properly accounted for, the disparities arising from patterns of context-dependent mutation can significantly influence interpretations of positive and purifying selection.


Asunto(s)
Bacterias/genética , Reparación de la Incompatibilidad de ADN/genética , Acumulación de Mutaciones , Tasa de Mutación , Bacillus subtilis/genética , Entomoplasmataceae/genética , Escherichia coli/genética , Genoma Bacteriano , Nucleótidos/genética
8.
Mol Biol Evol ; 32(12): 3215-25, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26351296

RESUMEN

Hybridization plays a potentially important role in the origin of obligate parthenogenesis (OP) in many organisms. However, it remains controversial whether hybridization directly triggers the transition from sexual reproduction to obligate asexuality or a hybrid genetic background enables asexual species to persist. Furthermore, we know little about the specific genetic elements from the divergent, yet still hybridizing lineages responsible for this transition and how these elements are further spread to create other OP lineages. In this study, we address these questions in Daphnia pulex, where cyclically parthenogenetic (CP) and OP lineages coexist. Ancestry estimates and whole-genome association mapping using 32 OP isolates suggest that a complex hybridization history between the parental species D. pulex and D. pulicaria is responsible for the introgression of a set of 647 D. pulicaria single nucleotide polymorphism alleles that show perfect association with OP. Crossing experiments using males of OP lineages and females of CP lineages strongly support a polygenic basis for OP. Single-sperm analyses show that although normal meiotic recombination occurs in the production of haploid sperm by males of OP lineages, a significant proportion of such sperm are polyploid, suggesting that the spread of asexual elements through these males (i.e., contagious asexuality) is much less efficient than previously envisioned. Although the current Daphnia genome annotation does not provide mechanistic insight into the nature of the asexuality-associated alleles, these alleles should be considered as candidates for future investigations on the genetic underpinnings of OP.


Asunto(s)
Daphnia/genética , Reproducción Asexuada/genética , Alelos , Animales , Mapeo Cromosómico , Evolución Molecular , Femenino , Haploidia , Hibridación Genética , Masculino , Repeticiones de Microsatélite , Modelos Genéticos , Partenogénesis , Filogenia , Poliploidía
9.
Proc Natl Acad Sci U S A ; 110(39): 15740-5, 2013 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-23959868

RESUMEN

Despite much theoretical work, the molecular-genetic causes and evolutionary consequences of asexuality remain largely undetermined. Asexual animal species are rare, evolutionarily short-lived, and thought to suffer mutational meltdown as a result of lack of recombination. Whole-genome analysis of 11 sexual and 11 asexual genotypes of Daphnia pulex indicates that current asexual lineages are in fact very young, exhibit no signs of purifying selection against accumulating mutations, and have extremely high rates of gene conversion and deletion. The reconstruction of chromosomal haplotypes in regions containing SNP markers associated with asexuality (chromosomes VIII and IX) indicates that introgression from a sister species, Daphnia pulicaria, underlies the origin of the asexual phenotype. Silent-site divergence of the shared chromosomal haplotypes of asexuals indicates that the spread of asexuality is as recent as 1,250 y, although the origin of the meiosis-suppressing element or elements could be substantially older. In addition, using previous estimates of the gene conversion rate from Daphnia mutation accumulation lines, we are able to age each asexual lineage. Although asexual lineages originate from wide crosses that introduce elevated individual heterozygosities on clone foundation, they also appear to be constrained by the inbreeding-like effect of loss of heterozygosity that accrues as gene conversion and hemizygous deletion expose preexisting recessive deleterious alleles of asexuals, limiting their evolutionary longevity. Our study implies that the buildup of newly introduced deleterious mutations (i.e., Muller's ratchet) may not be the dominant force imperiling nonrecombining populations of D. pulex, as previously proposed.


Asunto(s)
Daphnia/genética , Evolución Molecular , Genoma/genética , Reproducción Asexuada/genética , Animales , Secuencia de Bases , Genética de Población , Haplotipos/genética , Heterocigoto , Datos de Secuencia Molecular , Nucleótidos/genética , Filogenia
10.
Proc Natl Acad Sci U S A ; 110(46): 18590-5, 2013 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-24167248

RESUMEN

We present the complete genomic sequence of the essential symbiont Polynucleobacter necessarius (Betaproteobacteria), which is a valuable case study for several reasons. First, it is hosted by a ciliated protist, Euplotes; bacterial symbionts of ciliates are still poorly known because of a lack of extensive molecular data. Second, the single species P. necessarius contains both symbiotic and free-living strains, allowing for a comparison between closely related organisms with different ecologies. Third, free-living P. necessarius strains are exceptional by themselves because of their small genome size, reduced metabolic flexibility, and high worldwide abundance in freshwater systems. We provide a comparative analysis of P. necessarius metabolism and explore the peculiar features of a genome reduction that occurred on an already streamlined genome. We compare this unusual system with current hypotheses for genome erosion in symbionts and free-living bacteria, propose modifications to the presently accepted model, and discuss the potential consequences of translesion DNA polymerase loss.


Asunto(s)
Burkholderiaceae/genética , Euplotes/microbiología , Evolución Molecular , Tamaño del Genoma/genética , Genoma Bacteriano/genética , Simbiosis/genética , Secuencia de Aminoácidos , Secuencia de Bases , Biología Computacional , Anotación de Secuencia Molecular , Datos de Secuencia Molecular , Alineación de Secuencia , Análisis de Secuencia de ADN
11.
Proc Natl Acad Sci U S A ; 109(45): 18488-92, 2012 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-23077252

RESUMEN

Mutation dictates the tempo and mode of evolution, and like all traits, the mutation rate is subject to evolutionary modification. Here, we report refined estimates of the mutation rate for a prokaryote with an exceptionally small genome and for a unicellular eukaryote with a large genome. Combined with prior results, these estimates provide the basis for a potentially unifying explanation for the wide range in mutation rates that exists among organisms. Natural selection appears to reduce the mutation rate of a species to a level that scales negatively with both the effective population size (N(e)), which imposes a drift barrier to the evolution of molecular refinements, and the genomic content of coding DNA, which is proportional to the target size for deleterious mutations. As a consequence of an expansion in genome size, some microbial eukaryotes with large N(e) appear to have evolved mutation rates that are lower than those known to occur in prokaryotes, but multicellular eukaryotes have experienced elevations in the genome-wide deleterious mutation rate because of substantial reductions in N(e).


Asunto(s)
Evolución Biológica , Chlamydomonas reinhardtii/genética , Entomoplasmataceae/genética , Flujo Genético , Modelos Genéticos , Tasa de Mutación , Aislamiento Reproductivo , División Celular/genética , Tamaño del Genoma/genética , Genoma Bacteriano/genética , Genoma de Planta/genética , Especificidad de la Especie
12.
JMIR Res Protoc ; 13: e52843, 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38753428

RESUMEN

BACKGROUND: The COVID-19 pandemic highlighted the importance of robust public health data systems and the potential utility of data dashboards for ensuring access to critical public health data for diverse groups of stakeholders and decision makers. As dashboards are becoming ubiquitous, it is imperative to consider how they may be best integrated with public health data systems and the decision-making routines of diverse audiences. However, additional progress on the continued development, improvement, and sustainability of these tools requires the integration and synthesis of a largely fragmented scholarship regarding the purpose, design principles and features, successful implementation, and decision-making supports provided by effective public health data dashboards across diverse users and applications. OBJECTIVE: This scoping review aims to provide a descriptive and thematic overview of national public health data dashboards including their purpose, intended audiences, health topics, design elements, impact, and underlying mechanisms of use and usefulness of these tools in decision-making processes. It seeks to identify gaps in the current literature on the topic and provide the first-of-its-kind systematic treatment of actionability as a critical design element of public health data dashboards. METHODS: The scoping review follows the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines. The review considers English-language, peer-reviewed journal papers, conference proceedings, book chapters, and reports that describe the design, implementation, and evaluation of a public health dashboard published between 2000 and 2023. The search strategy covers scholarly databases (CINAHL, PubMed, Medline, and Web of Science) and gray literature sources and uses snowballing techniques. An iterative process of testing for and improving intercoder reliability was implemented to ensure that coders are properly trained to screen documents according to the inclusion criteria prior to beginning the full review of relevant papers. RESULTS: The search process initially identified 2544 documents, including papers located via databases, gray literature searching, and snowballing. Following the removal of duplicate documents (n=1416), nonrelevant items (n=839), and items classified as literature reviews and background information (n=73), 216 documents met the inclusion criteria: US case studies (n=90) and non-US case studies (n=126). Data extraction will focus on key variables, including public health data characteristics; dashboard design elements and functionalities; intended users, usability, logistics, and operation; and indicators of usefulness and impact reported. CONCLUSIONS: The scoping review will analyze the goals, design, use, usefulness, and impact of public health data dashboards. The review will also inform the continued development and improvement of these tools by analyzing and synthesizing current practices and lessons emerging from the literature on the topic and proposing a theory-grounded and evidence-informed framework for designing, implementing, and evaluating public health data dashboards. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/52843.


Asunto(s)
COVID-19 , Salud Pública , Humanos , COVID-19/epidemiología , Salud Pública/métodos , Sistemas de Tablero
14.
JMIR Form Res ; 5(9): e27447, 2021 Sep 22.
Artículo en Inglés | MEDLINE | ID: mdl-34550080

RESUMEN

BACKGROUND: Indoor air pollution is a well-known risk factor that triggers and exacerbates asthma, the most common pediatric chronic disease. Using a mobile app to monitor indoor air quality could be promising in engaging children in keeping their indoor air quality clean and healthy as secondary environmental prevention for asthma management. However, no app is available to allow children to monitor, assess, and improve their indoor air quality. OBJECTIVE: This study aims to design a mobile app that encourages children to monitor indoor air quality and track their asthma conditions through a user-centered, iterative design approach. METHODS: We reviewed existing apps for indoor air quality monitoring or asthma management for children and conducted two sets of semistructured interviews with 12 children with asthma. We then iteratively created prototypes and evaluated and revised them. RESULTS: Participants raised a series of outstanding questions on the prototype features and content that described their needs and perspectives, which informed the final designs. Following the identified requirements and recommendations, we developed two versions of the app: AirBuddy for presenting concrete information for indoor air quality and AirPet for gamifying the practice of monitoring indoor air quality. CONCLUSIONS: By following an iterative, user-centered design process, we developed two versions of an app to encourage children with asthma to monitor indoor air quality and track their asthma condition. The user-centered design approach revealed two crucial aspects that require deeper consideration when creating a child-friendly app, including balancing brevity and expressivity and considering the longitudinal effects of gamification. As a next step, we plan to conduct a longitudinal deployment study to evaluate the real-world effects of our apps.

15.
Adv Mater ; 32(9): e1906590, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31957096

RESUMEN

Three-dimensional (3D) subwavelength nanostructures have emerged and triggered tremendous excitement because of their advantages over the two-dimensional (2D) counterparts in fields of plasmonics, photonic crystals, and metamaterials. However, the fabrication and integration of 3D nanophotonic structures with colloidal quantum dots (CQDs) faces several technological obstacles, as conventional lithographic and etching techniques may affect the surface chemistry of colloidal nanomaterials. Here, the direct fabrication of functional quasi-3D nanophotonic structures into CQD films is demonstrated by one-step imprinting with well-controlled precision in both vertical and lateral directions. To showcase the potential of this technique, diffraction gratings, bilayer wire-grid polarizers, and resonant metal mesh long-pass filters are imprinted on CQD films without degrading the optical and electrical properties of CQD. Furthermore, a dual-diode CQD detector into an unprecedented mid-wave infrared two-channel polarization detector is functionalized by embedding an imprinted bilayer wire-grid polarizer within the CQDs. The results show that this approach offers a feasible pathway to combine quasi-3D nanostructures with colloidal materials-based optoelectronics and access a new level of light manipulation.

16.
ACS Nano ; 12(7): 7362-7370, 2018 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-29985583

RESUMEN

Thermal imaging in the midwave infrared plays an important role for numerous applications. The key functionality is imaging devices in the atmospheric window between 3 and 5 µm, where disturbance from fog, dust, and other atmospheric influence could be avoided. Here, we demonstrate sensitive thermal imaging with HgTe colloidal quantum dot (CQD) photovoltaic detectors by integrating the HgTe CQDs with plasmonic structures. The responsivity at 5 µm is enhanced 2- to 3-fold over a wide range of operating temperatures from 295 to 85 K. A detectivity of 4 × 1011 Jones is achieved at cryogenic temperature. The noise equivalent temperature difference is 14 mK at an acquisition rate of 1 kHz for a 200 µm pixel. Thermal images are captured with a single-pixel scanning imaging system.

17.
ACS Nano ; 12(7): 7264-7271, 2018 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-29975502

RESUMEN

Colloidal quantum dots (CQDs) with a band gap tunable in the mid-wave infrared (MWIR) region provide a cheap alternative to epitaxial commercial photodetectors such as HgCdTe (MCT) and InSb. Photoconductive HgTe CQD devices have demonstrated the potential of CQDs for MWIR photodetection but face limitations in speed and sensitivity. Recently, a proof-of-concept HgTe photovoltaic (PV) detector was realized, achieving background-limited infrared photodetection at cryogenic temperatures. Using a modified PV device architecture, we report up to 2 orders of magnitude improvement in the sensitivity of the HgTe CQD photodetectors. A solid-state cation exchange method was introduced during device fabrication to chemically modify the interface potential, leading to an order of magnitude improvement of external quantum efficiency at room temperature. At 230 K, the HgTe CQD photodetectors reported here achieve a sensitivity of 109 Jones with a cutoff wavelength between 4 and 5 µm, which is comparable to that of commercial photodetectors. In addition to the chemical treatment, a thin-film interference structure was devised using an optical spacer to achieve near unity internal quantum efficiency upon reducing the operating temperature. The enhanced sensitivity of the HgTe CQD photodetectors reported here should motivate interest in a cheap, solution-processed MWIR photodetector for applications extending beyond research and military defense.

18.
Genome Biol Evol ; 10(3): 723-730, 2018 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-29415256

RESUMEN

Mutations contribute to genetic variation in all living systems. Thus, precise estimates of mutation rates and spectra across a diversity of organisms are required for a full comprehension of evolution. Here, a mutation-accumulation (MA) assay was carried out on the endosymbiotic bacterium Teredinibacter turnerae. After ∼3,025 generations, base-pair substitutions (BPSs) and insertion-deletion (indel) events were characterized by whole-genome sequencing analysis of 47 independent MA lines, yielding a BPS rate of 1.14 × 10-9 per site per generation and indel rate of 1.55 × 10-10 events per site per generation, which are among the highest within free-living and facultative intracellular bacteria. As in other endosymbionts, a significant bias of BPSs toward A/T and an excess of deletion mutations over insertion mutations are observed for these MA lines. However, even with a deletion bias, the genome remains relatively large (∼5.2 Mb) for an endosymbiotic bacterium. The estimate of the effective population size (Ne) in T. turnerae is quite high and comparable to free-living bacteria (∼4.5 × 107), suggesting that the heavy bottlenecking associated with many endosymbiotic relationships is not prevalent during the life of this endosymbiont. The efficiency of selection scales with increasing Ne and such strong selection may have been operating against the deletion bias, preventing genome erosion. The observed mutation rate in this endosymbiont is of the same order of magnitude of those with similar Ne, consistent with the idea that population size is a primary determinant of mutation-rate evolution within endosymbionts, and that not all endosymbionts have low Ne.


Asunto(s)
Evolución Molecular , Gammaproteobacteria/genética , Selección Genética , Variación Genética , Genoma Bacteriano , Mutación , Tasa de Mutación , Simbiosis/genética
19.
Genetics ; 206(1): 315-332, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-27932545

RESUMEN

Using data from 83 isolates from a single population, the population genomics of the microcrustacean Daphnia pulex are described and compared to current knowledge for the only other well-studied invertebrate, Drosophila melanogaster These two species are quite similar with respect to effective population sizes and mutation rates, although some features of recombination appear to be different, with linkage disequilibrium being elevated at short ([Formula: see text] bp) distances in D. melanogaster and at long distances in D. pulex The study population adheres closely to the expectations under Hardy-Weinberg equilibrium, and reflects a past population history of no more than a twofold range of variation in effective population size. Fourfold redundant silent sites and a restricted region of intronic sites appear to evolve in a nearly neutral fashion, providing a powerful tool for population genetic analyses. Amino acid replacement sites are predominantly under strong purifying selection, as are a large fraction of sites in UTRs and intergenic regions, but the majority of SNPs at such sites that rise to frequencies [Formula: see text] appear to evolve in a nearly neutral fashion. All forms of genomic sites (including replacement sites within codons, and intergenic and UTR regions) appear to be experiencing an [Formula: see text] higher level of selection scaled to the power of drift in D. melanogaster, but this may in part be a consequence of recent demographic changes. These results establish D. pulex as an excellent system for future work on the evolutionary genomics of natural populations.


Asunto(s)
Daphnia/genética , Drosophila melanogaster/genética , Evolución Molecular , Genética de Población , Animales , Genoma , Genómica , Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple
20.
Genetics ; 206(1): 105-118, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28341647

RESUMEN

Population structure can be described by genotypic-correlation coefficients between groups of individuals, the most basic of which are the pairwise relatedness coefficients between any two individuals. There are nine pairwise relatedness coefficients in the most general model, and we show that these can be reduced to seven coefficients for biallelic loci. Although all nine coefficients can be estimated from pedigrees, six coefficients have been beyond empirical reach. We provide a numerical optimization procedure that estimates all seven reduced coefficients from population-genomic data. Simulations show that the procedure is nearly unbiased, even at 3× coverage, and errors in five of the seven coefficients are statistically uncorrelated. The remaining two coefficients have a negative correlation of errors, but their sum provides an unbiased assessment of the overall correlation of heterozygosity between two individuals. Application of these new methods to four populations of the freshwater crustacean Daphnia pulex reveal the occurrence of half siblings in our samples, as well as a number of identical individuals that are likely obligately asexual clone mates. Statistically significant negative estimates of these pairwise relatedness coefficients, including inbreeding coefficients that were typically negative, underscore the difficulties that arise when interpreting genotypic correlations as estimations of the probability that alleles are identical by descent.


Asunto(s)
Genética de Población , Genotipo , Modelos Genéticos , Alelos , Animales , Simulación por Computador , Daphnia/genética , Heterocigoto , Endogamia
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