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1.
Arch Insect Biochem Physiol ; 115(3): e22100, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38500478

RESUMO

The CRISPR/Cas9 technology has greatly progressed research on non-model organisms, demonstrating successful applications in genome editing for various insects. However, its utilization in the case of the soybean looper, Chrysodeixis includens, a notable pest affecting soybean crops, has not been explored due to constraints such as limited genomic information and the embryonic microinjection technique. This study presents successful outcomes in generating heritable knockout mutants for a pigment transporter gene, scarlet, in C. includens through CRISPR/Cas9-mediated mutagenesis. The scarlet locus identified in the genome assembly of C. includens consists of 14 exons, with a coding sequence extending for 1,986 bp. Two single guide RNAs (sgRNAs) were designed to target the first exon of scarlet. Microinjection of these two sgRNAs along with the Cas9 protein into fresh embryos resulted in the successful production of variable phenotypes, particularly mutant eyes. The observed mutation rate accounted for about 16%. Genotype analysis revealed diverse indel mutations at the target site, presumably originating from double-strand breaks followed by the nonhomologous end joining repair, leading to a premature stop codon due to frame shift. Single-pair mating of the mutant moths produced G1 offspring, and the establishment of a homozygous mutant strain occurred in G2. The mutant moths exhibited lightly greenish or yellowish compound eyes in both sexes, confirming the involvement of scarlet in pigmentation in C. includens. Notably, the CRISPR/Cas9-mediated genome editing technique serves as a visible phenotypic marker, demonstrating its proof-of-concept applicability in C. includens, as other pigment transporter genes have been utilized as visible markers to establish genetic control for various insects. These results provide the first successful case that the CRISPR/Cas9 method effectively induces mutations in C. includes, an economically important soybean insect pest.


Assuntos
Sistemas CRISPR-Cas , Mariposas , Feminino , Masculino , Animais , RNA Guia de Sistemas CRISPR-Cas , Soja/genética , Cor de Olho , Mariposas/genética
2.
Int J Legal Med ; 138(2): 627-637, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37934208

RESUMO

Forensic entomological evidence is employed to estimate minimum postmortem interval (PMImin), location, and identification of fly samples or human remains. Traditional forensic DNA analysis (i.e., STR, mitochondrial DNA) has been used for human identification from the larval gut contents. Forensic DNA phenotyping (FDP), predicting human appearance from DNA-based crime scene evidence, has become an established approach in forensic genetics in the past years. In this study, we aimed to recover human DNA from Lucilia sericata (Meigen 1826) (Diptera: Calliphoridae) gut contents and predict the eye and hair color of individuals using the HIrisPlex system. Lucilia sericata larvae and reference blood samples were collected from 30 human volunteers who were under maggot debridement therapy. The human DNA was extracted from the crop contents and quantified. HIrisPlex multiplex analysis was performed using the SNaPshot minisequencing procedure. The HIrisPlex online tool was used to assess the prediction of the eye and hair color of the larval and reference samples. We successfully genotyped 25 out of 30 larval samples, and the most SNP genotypes (87.13%) matched those of reference samples, though some alleles were dropped out, producing partial profiles. The prediction of the eye colors was accurate in 17 out of 25 larval samples, and only one sample was misclassified. Fourteen out of 25 larval samples were correctly predicted for hair color, and eight were misclassified. This study shows that SNP analysis of L. sericata gut contents can be used to predict eye and hair color of a corpse.


Assuntos
Dípteros , Cor de Cabelo , Animais , Humanos , Larva/genética , Dípteros/genética , Genótipo , DNA Mitocondrial/genética , Cor de Olho/genética
3.
Dermatol Surg ; 50(2): 144-148, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38048067

RESUMO

BACKGROUND: Adequate sun protection practices in chronically immunosuppressed patients can minimize the burden of the most common type of skin cancer in this population. In addition, early recognition of skin cancer by patients can lead to decreased morbidity, and possibly mortality from the disease. Nevertheless, there are significant gaps in the knowledge of sun protection measures and early recognition of skin cancer. OBJECTIVE: The aim of this study is to determine the risk factors of solid organ transplant recipients (SOTRs) for developing skin cancer and their sun exposure education and behavior post-transplantation. MATERIALS AND METHODS: This study evaluates the responses of 107 SOTRs on their outlooks and beliefs of sunscreen usage, skin cancer, and sun exposure knowledge. RESULTS: Our study identified several significant risk factors for the development of actinic keratosis or keratinocyte carcinoma in SOTRs including history of sunburn before age 18, blue eyes, history of tanning bed use, performing monthly skin exams, ability to identify precancerous skin lesions, and history of previous skin examinations. CONCLUSION: A patient-centered approach needs to be used to properly educate patients on effective ways to reduce excessive sun exposure. Regular skin examinations, and patients continued education are necessary components in reducing the burden of skin cancer in SOTRs.


Assuntos
Transplante de Órgãos , Neoplasias Cutâneas , Queimadura Solar , Humanos , Adolescente , Cor de Olho , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/prevenção & controle , Neoplasias Cutâneas/epidemiologia , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico , Transplantados , Transplante de Órgãos/efeitos adversos , Conhecimentos, Atitudes e Prática em Saúde
4.
J Am Vet Med Assoc ; 262(1): 117-124, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37758183

RESUMO

OBJECTIVE: To describe a novel scoring system of feline pigmented iris lesions prior to utilization of diode laser ablation of progressive pigmented iris lesions and to retrospectively evaluate short- and long-term patient outcomes following transcorneal diode laser ablation. ANIMALS: 317 client-owned cats (356 eyes) were included. CLINICAL PRESENTATION: Records of cats undergoing diode laser ablation from January 2000 to December 2018 were retrospectively reviewed. A novel clinical grading system to describe severity of feline iris hyperpigmentation was developed. Recorded parameters included signalment, operated-upon eye, presurgical iris pigmentation score, intraocular pressure, visual status, postoperative complications, repeat laser surgery, patient status at last follow-up, time to death, and presumptive or known cause of death. RESULTS: Complications included corneal ulceration (25/356 [7%]), glaucoma (18/356 [5%]), uveitis (4/356 [1.1%]), and corneal edema (3/356 [0.8%]). Enucleation was performed in 12 eyes due to blindness and secondary glaucoma. Repeat laser due to continued progression of pigment was performed in 18.5% of eyes. Two study patients were euthanized due to presumptive metastatic disease. Of the 250 cats for whom confirmation was available via phone call or medical records, 240 (96%) were alive at 1 year. CLINICAL RELEVANCE: Diode laser ablation appears safe overall and may be effective in decreasing progression of feline iris pigmentation. Complication risks appear minimal.


Assuntos
Doenças do Gato , Glaucoma , Terapia a Laser , Gatos , Animais , Estudos Retrospectivos , Iris/cirurgia , Terapia a Laser/veterinária , Glaucoma/veterinária , Cor de Olho , Pressão Intraocular , Doenças do Gato/cirurgia
5.
Insect Mol Biol ; 33(2): 91-100, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37819050

RESUMO

Drosophila suzukii (Matsumura) (Diptera: Drosophilidae), commonly called spotted wing Drosophila, is an important agricultural pest recognised worldwide. D. suzukii is a pest of soft-skinned fruits as females can lay eggs in ripening fruit before harvest. While strains for genetic biocontrol of D. suzukii have been made, the development of transgenic D. suzukii strains and their further screening remain a challenge partly due to the lack of phenotypically trackable genetic-markers, such as those widely used with the model genetic organism D. melanogaster. Here, we have used CRISPR/Cas9 to introduce heritable mutations in the eye colour genes white, cinnabar and sepia, which are located on the X, second and third chromosomes, respectively. Strains were obtained, which were homozygous for a single mutation. Genotyping of the established strains showed insertion and/or deletions (indels) at the targeted sites. A strain homozygous for mutations in cinnabar and sepia showed a pale-yellow eye colour at eclosion but darkened to a sepia colour after a week. The fecundity and fertility of some of the cinnabar and sepia strains were comparable with the wild type. Although white mutant males were previously reported to be sterile, we found that sterility is not fully penetrant and we have been able to maintain white-eyed strains for over a year. The cinnabar, sepia and white mutant strains developed in this study should facilitate future genetic studies in D. suzukii and the development of strains for genetic control of this pest.


Assuntos
Drosophila melanogaster , Drosophila , Compostos de Mercúrio , Feminino , Masculino , Animais , Drosophila/genética , Cor de Olho/genética , Fertilidade , Controle de Insetos
6.
Genes (Basel) ; 14(12)2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38137031

RESUMO

BACKGROUND: Insects are a sustainable source of protein for human food and animal feed. We present a genome assembly, CRISPR gene editing, and life stage-specific transcriptomes for the yellow mealworm, Tenebrio molitor, one of the most intensively farmed insects worldwide. METHODS: Long and short reads and long-range data were obtained from a T. molitor male pupa. Sequencing transcripts from 12 T. molitor life stages resulted in 279 million reads for gene prediction and genetic engineering. A unique plasmid delivery system containing guide RNAs targeting the eye color gene vermilion flanking the muscle actin gene promoter and EGFP marker was used in CRISPR/Cas9 transformation. RESULTS: The assembly is approximately 53% of the genome size of 756.8 ± 9.6 Mb, measured using flow cytometry. Assembly was complicated by a satellitome of at least 11 highly conserved satDNAs occupying 28% of the genome. The injection of the plasmid into embryos resulted in knock-out of Tm vermilion and knock-in of EGFP. CONCLUSIONS: The genome of T. molitor is longer than current assemblies (including ours) due to a substantial amount (26.5%) of only one highly abundant satellite DNA sequence. Genetic sequences and transformation tools for an insect important to the food and feed industries will promote the sustainable utilization of mealworms and other farmed insects.


Assuntos
Tenebrio , Animais , Masculino , Humanos , Tenebrio/genética , Tenebrio/metabolismo , RNA Guia de Sistemas CRISPR-Cas , Cor de Olho , Ração Animal/análise , Larva/metabolismo
7.
J Affect Disord ; 340: 476-481, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37579886

RESUMO

BACKGROUND: Understanding the iris colour might be a useful biomarker in predicting emotional health status. We aimed to examine the relationship of iris colour with subjective emotional status in a sample of Chinese adolescents aged 13 to 14 years. METHODS: A total of 2346 students from ten middle schools in Mojiang participated the examination. The emotional health status was measured by the adolescent self-reported PedsQL 4.0. We obtained standardized slit-lamp photographs and developed a grading system assessing iris colour (higher grade denoting darker). Logistic regression models were fitted to assess the relationship between iris colour and emotional status. RESULTS: The trend of decreasing negative emotional status with darker iris colour was significantly. Compared with grades 1 and 2 of iris colour, the students with grades 4 and 5 had less negative emotional status (ORfear = 0.56, 95 % CI: 0.41, 0.76; ORsadness = 0.67, 95 % CI: 0.49, 0.92; ORanger = 0.71, 95 % CI: 0.52, 0.98). In addition, the trend did not change after adjusting for potential confounders, including height, waist circumstance, sleep habits and computer times in logistic regression models. LIMITATIONS: Only negative emotional indexes were selected as evaluative materials, it is unclear whether the pattern found in the present study also exists with regard to positive emotional indexes, such as happiness. CONCLUSION: Darker iris colour might be associated with less negative emotional status in Chinese adolescents.


Assuntos
Emoções , Cor de Olho , Iris , Adolescente , Humanos , População do Leste Asiático , Modelos Logísticos
8.
Genes (Basel) ; 14(8)2023 08 10.
Artigo em Inglês | MEDLINE | ID: mdl-37628655

RESUMO

In recent decades, the use of genetic polymorphisms related to specific phenotypes, such as eye color, has greatly contributed to the development of the research field called forensic DNA phenotyping (FDP), enabling the investigators of crime cases to reduce the number of suspects, making their work faster and more precise. Eye color is a polygenic phenotype, and many genetic variants have been highlighted, with the major contributor being the HERC2-OCA2 locus, where many single nucleotide variations (SNPs) were identified. Interestingly, the HERC2-OCA2 locus, containing the intronic SNP rs12913832, the major eye color determinant, shows a high level of evolutionary conservation across many species of vertebrates. Currently, there are some genetic panels to predict eye color by genomic DNA analysis, even if the exact role of the SNP variants in the formation of eye color is still poorly understood, with a low level of predictivity in the so-called intermediate eye color. Many variants in OCA2, HERC2, and other genes lie in introns or correspond to synonymous variants, highlighting greater complexity in the mechanism of action of such genes than a simple missense variation. Here, we show the main genes involved in oculocutaneous pigmentation and their structural and functional features, as well as which genetic variants show the highest level of eye color predictivity in currently used FDP assays. Despite the great recent advances and impact of FDP in criminal cases, it is necessary to enhance scientific research to better understand the mechanism of action behind each genetic variant involved in eye color, with the goal of obtaining higher levels of prediction.


Assuntos
DNA , Cor de Olho , Animais , Cor de Olho/genética , Íntrons , Polimorfismo de Nucleotídeo Único/genética
9.
Mol Biol (Mosk) ; 57(4): 597-608, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37528780

RESUMO

Ancient DNA analyses help to solve the problems related to the genogeographic origin and migration patterns of populations. The Khazar Khaganate is a subject of controversy among researchers. Its complex historical development, lack of a sufficient number of artistic and written sources, the disappearance of representatives of Khazar culture leaves open the question of the appearance of the Khazars. DNA phenotyping of bone remains from elite burials of the Khazar period of Southern Russia was carried out with respect to eye color, hair color, skin color, and AB0 blood groups. Eight out of 10 individuals had brown eyes, dark hair (to varying degrees), and a predominantly dark skin during their lifetime. Individuals from two burials had gray-blue eyes, and one individual had blond hair. The most probable AB0 blood group was identified in eight people, of which five blood group 0 (I) group, four had blood group A (II), and one had blood group B (III). The allele frequency distribution was assessed for ten population-specific autosomal markers and suggested high heterogeneity for the ethnogeographic origin of the Khazars examined. The results are evidence for ethnocultural, genetic, and phenotypic diversity of the Khazar Khaganate.


Assuntos
Antígenos de Grupos Sanguíneos , Cor de Olho , Humanos , DNA/genética , Sepultamento , Federação Russa
10.
J Neurotrauma ; 40(19-20): 2118-2125, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37464770

RESUMO

The pupillary light reflex (PLR) is an important biomarker for the detection and management of traumatic brain injury (TBI). We investigated the performance of PupilScreen, a smartphone-based pupillometry app, in classifying healthy control subjects and subjects with severe TBI in comparison to the current gold standard NeurOptics pupillometer (NPi-200 model with proprietary Neurological Pupil Index [NPi] TBI severity score). A total of 230 PLR video recordings taken using both the PupilScreen smartphone pupillometer and NeurOptics handheld device (NPi-200) pupillometer were collected from 33 subjects with severe TBI (sTBI) and 132 subjects who were healthy without self-reported neurological disease. Severe TBI status was determined by Glasgow Coma Scale (GCS) at the time of recording. The proprietary NPi score was collected from the NPi-200 pupillometer for each subject. Seven PLR curve morphological parameters were collected from the PupilScreen app for each subject. A comparison via t-test and via binary classification algorithm performance using NPi scores from the NPi-200 and PLR parameter data from the PupilScreen app was completed. This was used to determine how the frequently used NPi-200 proprietary NPi TBI severity score compares to the PupilScreen app in ability to distinguish between healthy and sTBI subjects. Binary classification models for this task were trained for the diagnosis of healthy or severe TBI using logistic regression, k-nearest neighbors, support vector machine, and random forest machine learning classification models. Overall classification accuracy, sensitivity, specificity, area under the curve, and F1 score values were calculated. Median GCS was 15 for the healthy cohort and 6 (interquartile range 2) for the severe TBI cohort. Smartphone app PLR parameters as well as NPi from the digital infrared pupillometer were significantly different between healthy and severe TBI cohorts; 33% of the study cohort had dark eye colors defined as brown eyes of varying shades. Across all classification models, the top performing PLR parameter combination for classifying subjects as healthy or sTBI for PupilScreen was maximum diameter, constriction velocity, maximum constriction velocity, and dilation velocity with accuracy, sensitivity, specificity, area under the curve (AUC), and F1 score of 87%, 85.9%, 88%, 0.869, and 0.85, respectively, in a random forest model. The proprietary NPi TBI severity score demonstrated greatest AUC value, F1 score, and sensitivity of 0.648, 0.567, and 50.9% respectively using a random forest classifier and greatest overall accuracy and specificity of 67.4% and 92.4% using a logistic regression model in the same classification task on the same dataset. The PupilScreen smartphone pupillometry app demonstrated binary healthy versus severe TBI classification ability greater than that of the NPi-200 proprietary NPi TBI severity score. These results may indicate the potential benefit of future study of this PupilScreen smartphone pupillometry application in comparison to the NPi-200 digital infrared pupillometer across the broader TBI spectrum, as well as in other neurological diseases.


Assuntos
Lesões Encefálicas Traumáticas , Aplicativos Móveis , Doenças do Sistema Nervoso , Humanos , Reflexo Pupilar , Smartphone , Cor de Olho , Pupila , Lesões Encefálicas Traumáticas/diagnóstico
11.
Int J Legal Med ; 137(5): 1629-1638, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37284851

RESUMO

Phenotypic trait prediction in ancient DNA analysis can provide information about the external appearance of individuals from past human populations. Some studies predicting eye and hair color in ancient adult skeletons have been published, but not for ancient subadult skeletons, which are more prone to decay. In this study, eye and hair color were predicted for an early medieval adult skeleton and a subadult skeleton that was anthropologically characterized as a middle-aged man and a subadult of unknown sex about 6 years old. When processing the petrous bones, precautions were taken to prevent contamination with modern DNA. The MillMix tissue homogenizer was used for grinding, 0.5 g of bone powder was decalcified, and DNA was purified in Biorobot EZ1. The PowerQuant System was used for quantification and a customized version of the HIrisPlex panel for massive parallel sequencing (MPS) analysis. Library preparation and templating were performed on the HID Ion Chef Instrument and sequencing on the Ion GeneStudio S5 System. Up to 21 ng DNA/g of powder was obtained from ancient petrous bones. Clean negative controls and no matches with elimination database profiles confirmed no contamination issue. Brown eyes and dark brown or black hair were predicted for the adult skeleton and blue eyes and brown or dark brown hair for the subadult skeleton. The MPS analysis results obtained proved that it is possible to predict hair and eye color not only for an adult from the Early Middle Ages, but also for a subadult skeleton dating to this period.


Assuntos
Cor de Olho , Cor de Cabelo , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Criança , Cor de Olho/genética , Cor de Cabelo/genética , Pós , DNA/genética , Osso e Ossos , Polimorfismo de Nucleotídeo Único
12.
Sci Rep ; 13(1): 10651, 2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37391489

RESUMO

This study demonstrates a full-color near-eye holographic display capable of superimposing color virtual scenes with 2D, 3D, and multiple objects with extended depth upon a real scene, which also has the ability to present different 3D information depending on the focus of the user's eyes using a single computer-generated hologram per color channel. Our setup makes use of a hologram generation method based on two-step propagation and the singular value decomposition of the Fresnel transform impulse response function to efficiently generate the holograms of the target scene. Then, we test our proposal by implementing a holographic display that makes use of a phase-only spatial light modulator and time-division multiplexing for color reproduction. We demonstrate the superior quality and computation speed of this approach compared with other hologram generation techniques with both numerical and experimental results.


Assuntos
Realidade Aumentada , Holografia , Olho , Excipientes , Cor de Olho
14.
Genes (Basel) ; 14(5)2023 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-37239480

RESUMO

Forensic genomic systems allow simultaneously analyzing identity informative (iiSNPs), ancestry informative (aiSNPs), and phenotype informative (piSNPs) genetic markers. Among these kits, the ForenSeq DNA Signature prep (Verogen) analyzes identity STRs and SNPs as well as 24 piSNPs from the HIrisPlex system to predict the hair and eye color. We report herein these 24 piSNPs in 88 samples from Monterrey City (Northeast, Mexico) based on the ForenSeq DNA Signature prep. Phenotypes were predicted by genotype results with both Universal Analysis Software (UAS) and the web tool of the Erasmus Medical Center (EMC). We observed predominantly brown eyes (96.5%) and black hair (75%) phenotypes, whereas blue eyes, and blond and red hair were not observed. Both UAS and EMC showed high performance in eye color prediction (p ≥ 96.6%), but a lower accuracy was observed for hair color prediction. Overall, UAS hair color predictions showed better performance and robustness than those obtained with the EMC web tool (when hair shade is excluded). Although we employed a threshold (p > 70%), we suggest using the EMC enhanced approach to avoid the exclusion of a high number of samples. Finally, although our results are helpful to employ these genomic tools to predict eye color, caution is suggested for hair color prediction in Latin American (admixed) populations such as those studied herein, principally when no black color is predicted.


Assuntos
Cor de Olho , Cor de Cabelo , Humanos , Cor de Olho/genética , Cor de Cabelo/genética , México , Genótipo , DNA/genética
15.
Forensic Sci Int Genet ; 65: 102870, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37084623

RESUMO

Forensic DNA Phenotyping (FDP) comprises the prediction of a person's externally visible characteristics regarding appearance, biogeographic ancestry and age from DNA of crime scene samples, to provide investigative leads to help find unknown perpetrators that cannot be identified with forensic STR-profiling. In recent years, FDP has advanced considerably in all of its three components, which we summarize in this review article. Appearance prediction from DNA has broadened beyond eye, hair and skin color to additionally comprise other traits such as eyebrow color, freckles, hair structure, hair loss in men, and tall stature. Biogeographic ancestry inference from DNA has progressed from continental ancestry to sub-continental ancestry detection and the resolving of co-ancestry patterns in genetically admixed individuals. Age estimation from DNA has widened beyond blood to more somatic tissues such as saliva and bones as well as new markers and tools for semen. Technological progress has allowed forensically suitable DNA technology with largely increased multiplex capacity for the simultaneous analysis of hundreds of DNA predictors with targeted massively parallel sequencing (MPS). Forensically validated MPS-based FDP tools for predicting from crime scene DNA i) several appearance traits, ii) multi-regional ancestry, iii) several appearance traits together with multi-regional ancestry, and iv) age from different tissue types, are already available. Despite recent advances that will likely increase the impact of FDP in criminal casework in the near future, moving reliable appearance, ancestry and age prediction from crime scene DNA to the level of detail and accuracy police investigators may desire, requires further intensified scientific research together with technical developments and forensic validations as well as the necessary funding.


Assuntos
DNA , Genética Forense , Humanos , Fenótipo , DNA/genética , Medicina Legal , Pigmentação da Pele , Polimorfismo de Nucleotídeo Único , Cor de Olho
16.
Sci Rep ; 13(1): 4188, 2023 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-36918709

RESUMO

Insects display a vast array of eye and body colors. Genes encoding products involved in biosynthesis and deposition of pigments are ideal genetic markers, contributing, for example, to the power of Drosophila genetics. Oncopeltus fasciatus is an emerging model for hemimetabolous insects, a member of the piercing-sucking feeding order Hemiptera, that includes pests and disease vectors. To identify candidate visible markers for O. fasciatus, we used parental and nymphal RNAi to identify genes that altered eye or body color while having no deleterious effects on viability. We selected Of-vermilion for CRISPR/Cas9 genome editing, generating three independent loss-of-function mutant lines. These studies mapped Of-vermilion to the X-chromosome, the first assignment of a gene to a chromosome in this species. Of-vermilion homozygotes have bright red, rather than black, eyes and are fully viable and fertile. We used these mutants to verify a role for Of-xdh1, ortholog of Drosophila rosy, in contributing to red pigmentation using RNAi. Rather than wild-type-like red bodies, bugs lacking both vermilion and xdh1 have bright yellow bodies, suggesting that ommochromes and pteridines contribute to O. fasciatus body color. Our studies generated the first gene-based visible marker for O. fasciatus and expanded the genetic toolkit for this model system.


Assuntos
Cor de Olho , Heterópteros , Animais , Edição de Genes , Heterópteros/genética , Pigmentação/genética , Drosophila/genética , Marcadores Genéticos
17.
Anal Biochem ; 670: 115131, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37001597

RESUMO

Hypochlorite (ClO-) plays a key role in life systems and it is necessary to develop an effective detection method. In view of the significant advantages of the fluorescent probe, we have synthesized a naked-eye recognition fluorescent probe NNCF for the detection of ClO- based on phenothiazine and naphthalimide. The probe NNCF is sensitive (LOD = 9.5 nM) and fast for ClO- (within 30 s), and its Stokes shift is as large as 161 nm. In addition, the probe NNCF has been successfully used for imaging detection of exogenous ClO- in MCF-7 cells with low toxicity.


Assuntos
Corantes Fluorescentes , Ácido Hipocloroso , Humanos , Cor de Olho , Fenotiazinas
18.
Genes (Basel) ; 14(3)2023 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-36980970

RESUMO

The OCA2-HERC2 region is strongly associated with human pigmentation, especially eye colour. The HERC2 SNP rs12913832 is currently the best-known predictor for blue and brown eye colour. However, in a previous study we found that 43 of 166 Norwegians with the brown eye colour genotype rs12913832:AA or AG, did not have the expected brown eye colour. In this study, we carried out massively parallel sequencing of a ~500 kbp HERC2-OCA2 region in 94 rs12913832:AA and AG Norwegians (43 blue-eyed and 51 brown-eyed) to search for novel blue eye colour variants. The new candidate variants were subsequently typed in a Norwegian biobank population (total n = 519) for population specific association analysis. We identified five new variants, rs74409036:A, rs78544415:T, rs72714116:T, rs191109490:C and rs551217952:C, to be the most promising candidates for explaining blue eye colour in individuals with the rs12913832:AA and AG genotype. Additionally, we confirmed the association of the missense variants rs74653330:T and rs121918166:T with blue eye colour, and observed lighter skin colour in rs74653330:T individuals. In total, 37 (86%) of the 43 blue-eyed rs12913832:AA and AG Norwegians could potentially be explained by these seven variants, and we suggest including them in future prediction models.


Assuntos
Cor de Olho , Proteínas de Membrana Transportadoras , Humanos , Cor de Olho/genética , Noruega , Proteínas de Membrana Transportadoras/genética , Olho , Ubiquitina-Proteína Ligases/genética
19.
J Forensic Sci ; 68(2): 608-613, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36762775

RESUMO

Multiplex DNA typing methods using massively parallel sequencing can be used to predict externally visible characteristics (EVCs) in forensic DNA phenotyping through the analysis of single-nucleotide polymorphisms. The focus of EVC determination has focused on hair color, eye color, and skin tone as well as visible biogeographical ancestry features. In this study, we researched off-label applications beyond what is currently marketed by the manufacturer of the Verogen ForenSeq kit primer set B and Imagen primer set E SNP loci. We investigated additional EVC predictions by examining published genome wide sequencing studies and reported allele-specific gene expression and predictive values. We have identified 15 SNPs included in the ForenSeq kit panel and Imagen kits that have additional EVC prediction capabilities beyond what is published in the Verogen manuals. The additional EVCs that can be predicted include hair graying, ephelides hyperpigmented spots, dermatoheliosis, facial pigmented spots, standing height, pattern balding, helix-rolling ear morphology, hair shape, hair thickness, facial morphology, eyebrow thickness, sarcoidosis, obesity, vitiligo, and tanning propensity. The loci can be used to augment and refine phenotype predictions with software such as MetaHuman for missing persons, cold case, and historic case investigations.


Assuntos
Impressões Digitais de DNA , DNA , Fenótipo , DNA/genética , Pigmentação da Pele , Cabelo , Polimorfismo de Nucleotídeo Único , Genética Forense/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Cor de Olho
20.
Exp Clin Transplant ; 21(7): 607-614, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-35037604

RESUMO

OBJECTIVES: Organ transplantrecipients are at high risk of skin cancer due to immunosuppressant therapy. This study investigated the factors affecting organ transplant recipients' knowledge and protective behaviors to prevent the development of skin cancer. MATERIALS AND METHODS: This was a cross-sectional descriptive study of kidney (n = 82) and liver (n = 31) transplant recipients seen at our hospitals in Turkey from June 2019 to February 2020. A sociodemographic and clinical characteristics form, the Skin Cancer and Sun Knowledge scale, the Sun Protection Behavior questionnaire, and the General Self-Efficacy scale were used to collect data. RESULTS: The mean age of organ transplant recipients was 46.63 ± 13.24 years. Self-efficacy and awareness that transplant increases the risk of skin cancer are 2 characteristics that affected the participants' knowledge level. The type of graft (kidney) affected participants' behavior in avoiding outdoor exposure between the hours of 10 am and 4 pm. Green/blue eye color and self-efficacy affected the participants' hatwearing behavior. These details showed that, as the patients' sensitivity and self-efficacy increased, their levels of knowledge and sun protection behaviors were positively affected. CONCLUSIONS: The knowledge level of patients was affected by (1) awareness that transplant is associated with an increased risk of skin cancer and (2) high levels of self-efficacy. We observed that (1) organ transplant recipients with high self-efficacy and kidney transplant recipients were more likely to avoid outdoor exposure between 10 am and 4 pm and that (2) organ transplant recipients with green/blue eyes and high levels of selfefficacy were more likely to wear a hat when outdoors. Organ transplant teams should provide education and counseling about skin cancer and sun protection in the follow-up care of transplant recipients.


Assuntos
Transplante de Órgãos , Neoplasias Cutâneas , Humanos , Adulto , Pessoa de Meia-Idade , Comportamentos Relacionados com a Saúde , Estudos Transversais , Cor de Olho , Transplante de Órgãos/efeitos adversos , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/prevenção & controle , Neoplasias Cutâneas/psicologia , Transplantados/psicologia
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