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Uveal melanoma (UM) is a rare disease, with the highest incidence in people with fair skin and light eyes. Eye color is largely genetically determined and is defined by a set of single nucleotide polymorphisms (SNPs). We set out to determine whether we could identify a SNP related to prognosis. We sequenced DNA from peripheral blood mononuclear cells of 392 patients with UM and obtained the genotype of 6 common eye color-related SNPs. Clinical and histopathologic tumor characteristics, tumor chromosome status, and patient survival were compared among patients with different genotypes. Three hundred ninety-two patients who underwent enucleation for UM at the Leiden University Medical Center, Leiden, The Netherlands. We isolated DNA from peripheral blood leukocytes of 392 patients with UM and performed sequencing, using 6 eye color SNPs from the HIrisPlex-S assay (Erasmus MC, Walsh lab). The genotypes extracted from the sequencing data were uploaded onto the HIrisPlex webtool (https://hirisplex.erasmusmc.nl/) for eye color prediction. We tested the association of eye color SNPs with tumor characteristics and chromosome aberrations using Pearson's chi-square test and the Mann–Whitney U test and evaluated survival with Kaplan–Meier curves with the log-rank test and Cox regression. Uveal melanoma-related survival. Of 392 patients with analyzable genotype data, 307 patients (78%) were assigned blue eyes, 74 patients (19%) were assigned brown eyes, and 11 patients (3%) could not be assigned to either blue or brown. Patients with a genetically blue eye color showed worse survival (P = 0.04). This was related to 1 genotype: patients with the G/G genotype of rs12913832 (HERC2), which codes for blue eye color showed a worse prognosis (P = 0.017) and more often had high-risk tumors (monosomy of chromosome 3; P = 0.04) than in patients with an A/G or A/A genotype. The G/G genotype of rs12913832 (HERC2), which is related to blue eye color, not only is a genetic factor related to the risk of UM develop, but also is linked to a worse prognosis because of an association with a higher risk of a high-risk UM developing (carrying monosomy of chromosome 3). The author(s) have no proprietary or commercial interest in any materials discussed in this article. [ABSTRACT FROM AUTHOR]

We describe two new species of the genus Hyalella found at Parque Estadual Turístico do Alto Ribeira (PETAR), a state park in Southeastern Brazil, and also redescribe H. caeca, the first cave species of the genus described in Brazil. Hyalella caeca is endemic to Tobias de Baixo Cave and is threatened according to the International Union for Conservation of Nature (IUCN) Red List; its original description lacks important and detailed morphological features. Hyalella caeca is completely blind and depigmented, with antenna 2 almost half the body length, maxilla 1 with nine serrate setae on the outer plate, gnathopod 1 with polygonal pattern on the dactylus, gnathopod 2 with a slender posterior excavation and uropod 3 subequal in length to the peduncle of uropod 2 and the telson. The two newly described species are found at Santana Cave and in epigean stretches of Rio Roncador River, and their morphologies differ greatly. Hyalella ceciliaesp. n., a troglobitic species of Santana Cave, is blind and depigmented, with elongated antennas and legs; its main features include antenna 2 more than half the body length, maxilla 1 with eight serrate setae on the outer plate, gnathopod 1 of male and female identical, with comb scales on the merus, and uropod 3 longer than the telson. Hyalella roncadorsp. n., an epigean species of Rio Roncador River, has pigmented eyes, and its main features include antenna 1 half the size of antenna 2, maxilla 1 outer plate with nine serrate setae, gnathopod 1 propodus with polygonal pattern, gnathopod 2 palm with slender posterior excavation, and uropod 3 subrectangular, ramus with an excavation with cuspidate setae midway to the apex. Both species are protected by law, since the type localities are inside PETAR; however, Hyalella ceciliaesp. n. shows low abundance and is rare in the Santana Cave. [ABSTRACT FROM AUTHOR]

Carbon-based nanoparticles (CBNPs) have shown a notable increase in demand and are progressively encountering human exposure as a result of their extensive utilization across diverse industries and applications making it imperative to conduct comprehensive investigations of their potential impacts on human health. This study represents the inaugural investigation into the toxicity of CBNPs when administered orally (gavage) to mice over 30 days, dosing 5mg/kg, 10mg/kg, and 20mg/kg of the mice's body weight. The study depicted hyperactivity, social withdrawal, rolling behavior, the appearance of yellowish spots on the tail, alopecia, and a darkening of eye pigmentation. ALP and catalase levels decreased, ALT, AST, and glutathione levels increased, indicating liver and kidney physiological changes. High urea and creatinine levels indicated renal physiology disruption, whereas high bilirubin levels indicated hepatic physiology disturbance. Inflammation, necrotic foci, and binucleated cells were seen in kidney and liver tissue. The findings of the study suggested that the adverse effects resulting from exposure to CBNPs can be attributed to their tendency to aggregate, slow clearance rate, and excessive formation of reactive oxygen species (ROS), which in turn impair enzyme activities. Therefore, it may be deduced that exposure to CBNPs may induce a disruption of physiological processes, culminating in the development of severe and perhaps fatal illnesses. [ABSTRACT FROM AUTHOR]

This research studies the morphology and morphometry traits of Aseel chickens raised in various regions of Türkiye. We used Turkish Aseel genotypes to assess the live weight and physical features of 60 female and 58 male subjects of varying ages. We measured brood length, breadth, head and beak width, neck and body length, chest width, depth, and circumference, thigh diameter, length, and depth, and leg length. Males' average live weight, chest circumference, thigh length, and comb length, which affect game efficacy, are 3.23 kg, 37.88 cm, 20.69 cm, and 40.20 mm, respectively. Although there was a statistically significant difference between the gender groups for all evaluated characteristics, there was only a statistically significant difference between the age groups for head width and chest circumference, shank depth, diameter, and length, and live weight (P<0.05). The data showed differences among different areas, particularly about the measurements of the comb, prompting researchers to propose a hypothesis suggesting a potential correlation between these changes and regional temperature disparities. We evaluated Turkish Aseels for feather, comb, eye color, markings, and comb type. Medium-weight breeds with hair, earlobes, beards, and spurs Weight and characteristics determine the Turkish Aseel breed. Comb structures were shorter, and their live weight was lower than that of other game roosters or Aseel kinds. Based on their morphology, domestic Aseel males may have a distinct genotype and subtype. Evaluating morphometric characteristics is an important aspect of the research. However, conducting additional comparative research is crucial. Genotyping studies with larger numbers are necessary for greater accuracy. [ABSTRACT FROM AUTHOR]

Extreme environmental conditions have profound impacts on shaping the evolutionary trajectory of organisms. Cave-dwelling fishes, known as subterranean fishes, are notable examples of regressive evolution in response to the unique ecosystem of caves. Garra longipinnis (Teleostei: Cyprinidae: Labeoninae), a freshwater cyprinid endemic to the Arabian Peninsula, resides in both caves and surface habitats in northern Oman. It showcases two distinct morphotypes: the normal surface-dwelling form (epigean) with eyes and body pigmentation, and the blind cave-dwelling form (troglomorphic) lacking both eyes and pigmentation. Two morphotypes were analyzed comparatively, focusing on body scales using light and scanning electron microscopy to unravel the possible regressive evolutionary signals in cave-dwelling G. longipinnis ,. The results revealed that the blind cave-dwelling form displayed a reduction in some scale features, including the reduction in scale size, smaller focal index, smaller extension index, and the absence of tubercles on the posterior portion of the scale. An additional change in the scales of the cave-dwelling population was related to the tubular part of the lateral line canal, which was longer with a wider opening (enhanced non-visual sensory systems). Furthermore, the cave population exhibited a relatively smaller body size than its surface-dwelling counterpart. These observed traits are regarded as adaptations to the constant darkness and poor nutrition conditions of the subterranean environments. By uncovering novel regressive evolutionary signals in scale morphology, this study contributes to our understanding of cave-dwelling inhabitants, shedding light on the independent influences of extreme environments on the evolution of fish populations and species. • Cave-dwelling species evolve various characteristics due to life in dark extreme environments. • Regressive evolutionary signals in the blind cave-dwelling population include smaller scales, focal index, and smaller extension index. • Two morphotypes reveal that some genes are still conserved in G. longipinnis. [ABSTRACT FROM AUTHOR]

A new bristletail species, Allopsontus tauricus sp. n., is described from western Crimea. With respect to the external shape of the eyes and the structure of the mandibulae, legs, abdominal sternites, ovipositor, and male parameres, it is most similar to A. europeus (Kaplin, 1983) from southern Crimea. Their main differences are the relative length of the cerci, the color of the eyes, and the shape of the paired ocelli. The structure of the distal part of the antennal flagellum, the chaetotaxy of the maxillary and lower labial palps in males, and the ratio of the length of the styli to the length of the coxites of abdominal segments VIII and IX in both males also differ significantly. [ABSTRACT FROM AUTHOR]

This study explores the impact of different color hue combinations and medium types (print and digital) on reading performance and comprehension. The purpose is to understand how these factors may influence text legibility and to offer practical insights for designers on optimizing visual design in presenting promotional content. Fifty-two participants read texts with various color palettes presented on both print and digital formats. The following color combinations were used in the experiment: achromatic (black on gray), achromatic–chromatic (black on green), and chromatic (purple on green). Reading time and comprehension score were measured to identify any significant differences between these conditions. The results show that the color combinations significantly affected reading time, regardless of the medium type. However, neither color nor medium had a significant effect on text comprehension. The main outcome is that the combination of achromatic text on a chromatic background appeared to be the most effective combination for enhancing the legibility of promotional text. Our findings suggest that graphic designers can choose particular color combinations to optimize reading speed without worrying about negative effects on the comprehension of the texts used in promotional materials across various mediums. [ABSTRACT FROM AUTHOR]

The cricket Gryllus bimaculatus is an emerging model insect of the order Orthoptera that is used in a wide variety of biological research themes. This hemimetabolous species appears highly complementary to Drosophila and other well-established holometabolous models. To improve transgenesis applications in G. bimaculatus , we have designed a transformation marker gene inspired from the widespread Drosophila mini- white +. Using CRISPR/Cas9, we first generated a loss-of-function mutant allele of the Gb-white gene (Gb-w), which exhibits a white eye coloration at all developmental stages. We then demonstrate that transgenic insertions of a piggyBac vector containing a 3xP3-Gb-w+ cassette rescue eye pigmentation. As an application, we used this vector to generate G. bimaculatus lines expressing a centromeric histone H3 variant (CenH3.1) fused to EGFP and validated EGFP-CenH3.1 detection at cricket centromeres. Finally, we demonstrate that Minos -based germline transformation and site-specific plasmid insertion with the ΦC31 integrase system function in G. bimaculatus. [ABSTRACT FROM AUTHOR]

Exposure to solar ultraviolet (UV) radiation is an established risk factor for skin cancer. Toll-like receptor-4 (TLR4)-mediated immune dysregulation has emerged as a key mechanism for the detrimental effects of acute and chronic UV exposure and skin cancer in mice. Single nucleotide polymorphisms (SNPs) on the TLR4 gene have been reported to increase or decrease susceptibility to various cancers in other organs. There is limited information on TLR4 SNPs and susceptibility to human keratinocyte carcinomas. The study's objective is to test the association between TLR4 SNPs and the risk of developing keratinocyte carcinomas. Skin cancer patients and controls at the University of Alabama at Birmingham completed a cross-sectional survey on personal and family history of skin cancer as well as on sunscreen use and tanning proneness. Peripheral blood samples were obtained from participants, and DNA was extracted to genotype the TLR4 SNPs. Descriptive analytics were used to describe the cohort. Multivariable logistic regression models were used to assess the association between TLR4 SNPs and skin cancer risk. The sample consisted of a cohort of 93 skin cancer patients over the age of 50 and 94 controls; 33.3% of cases and 44.7% of controls were females; 12.9% of cases and 17% of controls had a TLR4 SNP. The most common SNP was D299G/T399I in 9.7% of skin cancer patients and 13.8% of controls. We did not find a statistically significant association between the D299G/T399I SNP and skin cancer (odds ratio (OR) = 0.34, 95% CI: 0.11, 1.07, p = 0.065) adjusting for age, sex, eye color, actinic keratosis, sunscreen use and reapplication, and family history of skin cancer. Based on our findings from our limited cohort of participants, we found some protective effect for the TLR4 SNP for skin cancer, which was not statistically significant. Validation of these findings in a larger cohort is warranted. [ABSTRACT FROM AUTHOR]

Copyright of New Architecture is the property of New Architecture Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Primates, the most colorful mammalian radiation, have previously served as an interesting model to test the functions and evolutionary drivers of variation in eye color. We assess the contribution of photo-regulatory and communicative functions to the external eye appearance of nine macaque species representing all the branches of their radiation. Macaques' well described social structure and wide geographical distribution make them interesting to explore. We find that (1) the posterior option of the anterior eyeball is more pigmented closer to the equator, suggesting photoprotective functions. We also find that (2) the temporal side of the eyeball is more heavily pigmented than the nasal side. This suggests that eyeball pigmentation in macaques is distributed to reduce damage to the corneal limbus. The inclusion of a translocated population of M. fuscata in our analyses also suggests that external eye appearance may change quickly, perhaps owing to phenotypic plasticity. We find no evidence that communicative functions drive variation in external eye appearance in macaques. These results suggest that the amount of light in a species' environment drives variation in eye coloration across macaque species. Furthermore, the geographical distribution of macaques hints at important factors that have yet to be accounted for, such as the reflectivity of the terrain a given species inhabits. [ABSTRACT FROM AUTHOR]

Near-infrared (NIR) spectral-responsive multitasking chemical systems are always advantageous in biological and environmental systems. Although ruthenium complexes are highly attractive compounds for many applications, studies on NIR optical responsive sensors are very limited because of their synthetic difficulties. The sensing of fluoride and cyanide ions using ruthenium nitrosyl complexes is not known. In this study, we report the synthesis and characterization of a new terpyridine-based ruthenium nitrosyl complex [Ru(Cl)2NO(terpy-C6H4OH)] 1⋅Ru-OH. The complex exhibited distinct NIR absorptions at 680 nm, as well as a visible color change with the fluoride ion in DMSO-CH3CN medium. However, when the solvent is changed to DMSO-H2O, it responds only with a cyanide ion with a distinct colorimetric change. Binding of the F- ion leads to deprotonation of 1⋅Ru-OH; the deprotonated complex is also used for the colorimetric detection of a trace amount of water in DMSO and acetonitrile with a limit of detection (LOD) of 0.034 wt% and 0.007 wt%, respectively. Ruthenium nitrosyl complexes have appeared as promising platforms for light-controlled release of nitric oxide (NO), which can be beneficial for therapeutic application. NO release studies of 1⋅Ru-OH by UV-vis and FT-IR spectroscopy confirm that it can release NO in a light-controlled manner. In addition, the NO release could be monitored by the naked eye with a color change and spectral change in the NIR region. Importantly, NO release studies revealed that the rate of NO release could be modulated in the presence of the F- ion. Here, the fluoride ion acts as an allosteric regulator. These results demonstrate that 1⋅Ru-OH is both a promising multitasking colorimetric and NIR sensor and a colorimetric responsive NO-releasing agent. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Applied Entomology is the property of Chinese Journal of Applied Entomology, Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The purpose of this study was to evaluate the chromatic adaptability and color stability of two different composite resins, Omnichroma and Estelite Bulk-Fill Flow, in Class V restorations at different times. Materials and methods: Standardized Class V cavities were prepared on the labial surface of 34 extracted intact and noncarious human permanent molars. The dental elements were randomly divided into two groups according to the resin composite material. Group 1 was restored with Omnichroma (Tokuyama Dental Corporation Inc., Tokyo, Japan) and Group 2 was restored with Estelite BulkFill Flow Universal (Tokuyama Dental Corporation Inc., Tokyo, Japan). Color properties were assessed using a spectrophotometer, SpectroShadeTM Micro (MHT Optic Research, Niederhasli, Switzerland), at baseline (T0), immediately after Class V restoration (T1), 24 h after restoration (T2) and after thermocycling (T3) (ISO/TS 11405, 2015 protocol). Color difference (ΔE) was analyzed with a Student's t-test and a Wilcoxon–Mann–Whitney test to evaluate the differences, in terms of chromatic adaptability, between the two materials (inter-group analysis) while Kruskal–Wallis test e Two-way ANOVA statistical tests were used to evaluate the color stability of each material over time (intra-group analysis). Results: Regarding the inter-group analysis, there were no statistically significant differences between the two materials in all the comparisons: T0–T1 (p = 0.9025), T0–T2 (p = 0.2779), T0–T3 (p = 0.4694). Moreover, both groups showed an average ΔE > 2. In the intra-group analysis, no statistically significant differences were observed in either Group 1 (p = 0.954) or Group 2 (p = 0.8654). Conclusions: The in vitro color matching, assessed by spectrophotometry, of the two tested resin composites does not vary at different time intervals. Furthermore, even though both composites use different mechanisms to produce the color the human eye perceives, they show very similar chromatic adaptability. [ABSTRACT FROM AUTHOR]

Benzothiazole, hydrazine/ammonia and salicylaldehyde were selected as basic unit for constructing of bis-Schiff base molecules with excited state intramolecular proton transfer (ESIPT) property. Herein, "turn-on" fluorescent performance and highly sensitive multifunctional fluorescence probes were developed to stably and efficiently detect Pb2+, Mg2+ and Al3+ in biological and environmental samples. Among them, BF-SJ could distinguish Pb2+ and Mg2+ ions under different pH conditions, while BF-SO could separate Pb2+ and Al3+ by different emission wavelength. More important, target ions could be distinguished by naked eyes with color change of solution under sun light and ultraviolet lamp. The LOD values of BF-SJ and BF-SO for Pb2+/Mg2+ and Pb2+/Al3+ were as low as 31.23 μM, 25.95 μM, 59.57 μM and 1.38 μM, respectively. Ideally, they showed low cytotoxicity and were successfully used for imaging of exogenous Pb2+/Mg2+ and Pb2+/Al3+ in HeLa cells. Also, BF-SJ exhibited satisfactory performance in detection of Mg2+ in seawater and test paper experiment. [ABSTRACT FROM AUTHOR]

A new species of nemacheilid loach, Schistura sonarengaensis sp. nov., is described from three cave‐dwelling populations (Barak–Surma–Meghna drainage) in the South Garo Hills district of Meghalaya, India. The new species possesses prominent eyes but is easily distinguished from all the congeners of the genus Schistura from Barak–Surma–Meghna and adjacent rivers drainages of northeast Indian (except S. syngkai) in having 13–26 vertically elongated to circular mid‐lateral black blotches (brownish in life) overlayered on a grayish‐black mid‐lateral stripe on a dull white or pale‐beige (golden brown in life) body. However, it can be easily distinguished from S. syngkai in having a complete (vs. incomplete) lateral line with more 72–89 (vs. 19–42) lateral‐line pored scales, greater pre‐dorsal length (48.5–53.1 vs. 41.9–44.1 %SL), a wider body at dorsal‐fin origin (11.3–16.7 vs. 9.4–10.3 %SL), greater dorsal (18.1–21.1 vs. 15.1–17.0 %SL) and lateral (20.9–24.1 vs. 17.4–18.9 %SL) head length, a wider head (14.5–18.5 vs. 11.6–13.3 %SL), and moderately forked (vs. emarginated) caudal fin. Further, molecular analysis confirms the distinctiveness of S. sonarengaensis sp. nov. from its congeners found in northeast India by significant divergences with uncorrected genetic distance ranging from 3.7% to 17.3% in the mitochondrial cytochrome c oxidase subunit I (COI) gene dataset. The phylogenetic position of the new species with its sister species was evaluated using maximum likelihood and Bayesian analysis. The species delimitation approaches assemble species by automatic partitioning (ASAP) and Poisson tree processes (PTP) utilized for testing species assignments consistently identified our test group as a distinct species from its sister species. Although the new species lacks typical morphological adaptations usually associated with a subterranean life, such as complete absence (or vestigial presence) of eyes and pigmentation, it exhibits a reduction of pigmentation when compared to the epigean congeners. [ABSTRACT FROM AUTHOR]

In insect genome editing CRISPR/Cas9 is predominantly employed, while the potential of several classes of Cas enzymes such as Cas12a largely remain untested. As opposed to Cas9 which requires a GC-rich protospacer adjacent motif (PAM), Cas12a requires a T-rich PAM and causes staggered cleavage in the target DNA, opening possibilities for multiplexing. In this regard, the utility of Cas12a has been shown in only a few insect species such as fruit flies and the silkworm, but not in non-model insects such as the fall armyworm, Spodoptera frugiperda, a globally important invasive pest that defies most of the current management methods. In this regard, a more recent genetic biocontrol method known as the precision-guided sterile insect technique (pgSIT) has shown successful implementation in Drosophila melanogaster, with certain thematic adaptations required for application in agricultural pests. However, before the development of a controllable gene drive for a non-model species, it is important to validate the activity of Cas12a in that species. In the current study we have, for the first time, demonstrated the potential of Cas12a by editing an eye color gene, tryptophan 2,3-dioxygenase (TO) of S. frugiperda by microinjecting ribonucleoprotein complex into pre-blastoderm (G0) eggs. Analysis of G0 mutants revealed that all five mutants (two male and three female) exhibited distinct edits consisting of both deletion and insertion events. All five edits were further validated through in silico modeling to understand the changes at the protein level and further corroborate with the range of eye-color phenotypes observed in the present study. [ABSTRACT FROM AUTHOR]

Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all cases of the disease in European populations. Common hypomorphic variants in the TYR gene could lead to a mild form of albinism in a compound heterozygous state with a pathogenic variant. Methods: we examined by allele specific MLPA a cohort consisting of 118 unrelated patients with albinism and 10 parents of these patients. The control cohort consisted of 200 unexamined Russian residents. Results: the patients with albinism were divided into three groups: without pathogenic variants in the TYR gene—70 patients, with one pathogenic variant in the TYR gene—20 patients, and with two pathogenic variants in the TYR gene—28 patients. Among the 20 patients with a single heterozygous variant in the TYR gene, 15 patients had the c.575C>A p.(Ser192Tyr) variant, and 15 had the c.1205G>A p.(Arg402Gln) variant. Both the c.575C>A p.(Ser192Tyr) and c.1205G>A p.(Arg402Gln) variants were identified in 12 patients. In addition to the aforementioned variants, an intronic variant c.1185-6208A>G (rs147546939) was identified in seven patients. Conclusions: the frequencies and the number of alleles c.575A, c.1205A, and c.1185-6208G in different groups of patients and the control group were compared. In this study, we demonstrate that the complex alleles [c.575C>A p.(Ser192Tyr); c.1205G>A p.(Arg402Gln)] and [c.575C>A p.(Ser192Tyr); c.1185-6208A>G; c.1205G>A p.(Arg402Gln)] are associated with oculocutaneous albinism, which is consistent with findings from other researchers. [ABSTRACT FROM AUTHOR]

The article in eLife discusses the first complete 3D reconstruction of the compound eye of a minute wasp species, shedding light on the challenges of extreme miniaturization. The study reveals that the eyes of these wasps are among the smallest in animals with complex behaviors, with only 29 ommatidia. Despite their small size, the eyes efficiently capture enough light for daytime vision, with specialized structures for polarized light detection. This research provides valuable insights into miniaturized organs in visual physiology and cell biology, informing future studies and potential applications in imaging sensors and numerical modeling. [Extracted from the article]

Abstract One of the greatest strengths of Drosophila genetics is its easily observable and selectable phenotypic markers. The mini-white marker has been widely used as a transgenic marker for Drosophila transgenesis. Flies carrying a mini-white construct can exhibit various eye colors ranging from pale orange to intense red, depending on the insertion site and gene dosage. Because the two copies of the mini-white marker show a stronger orange color, this is often used for selecting progenies carrying two transgenes together in a single chromosome after chromosomal recombination. However, some GAL4 lines available in the fly community originally have very strong red eyes. Without employing another marker, such as GFP, generating a recombinant chromosome with the strong red-eyed GAL4 and a desired UAS-transgene construct may be difficult. Therefore, we decided to change the red eyes of GAL4 lines to orange color. To change the eye color of the fly, we tested the CRISPR/Cas9 method with a guide RNA targeting the white gene with OK371-GAL4 and elav-GAL4. After a simple screening, we have successfully obtained multiple lines of orange-eyed OK371-GAL4 and elav-GAL4 that still maintain their original expression patterns. All of these simple experiments were performed by undergraduate students, allowing them to learn about a variety of different genetic experiments and genome editing while contributing to the fly research community by creating fruit fly lines that will be used in real-world research.

Abstract Objective This study assesses the accuracy of the IrisPlex system, a genetic eye color prediction tool for forensic analysis, in the Kazakh population. The study compares previously published genotypes of 515 Kazakh individuals from varied geographical and ethnohistorical contexts with phenotypic data on their eye color, introduced for the first time in this research. Results The IrisPlex panel’s effectiveness in predicting eye color in the Kazakh population was validated. It exhibited slightly lower accuracy than in Western European populations but was higher than in Siberian populations. The sensitivity was notably high for brown-eyed individuals (0.99), but further research is needed for blue and intermediate eye colors. This study establishes IrisPlex as a useful predictive tool in the Kazakh population and provides a basis for future investigations into the genetic basis of phenotypic variations in this diverse population.

The current research aimed to investigate the adaptations in eye morphology and the structure of retinal photoreceptors in amphibious fish (Alticus kirkii) and nonamphibious fish (Gambusia affinis) to understand the visual adaptations of A. kirkii upon being out of water. The morphological and histological features of the eyes of both species were adressed. Results showed that A. kirkii exhibits several visual adaptations for seeing in air. Morphologically, the eyes of A. kirkii are bulging and positioned on retractable stalks at the top of the head, unlike those of G. affinis. The ratio of axial length to head length is greater in A. kirkii than in G. affinis. Histologically, the cornea of A. kirkii is more curved than that of G. affinis, with a crooked internal layer that is more curled in A. kirkii and reduced in G. affinis. The lens is larger, slightly flattened, and more stable in A. kirkii compared to G. affinis. The retina is thicker in A. kirkii and consists of 10 layers. In A. kirkii, the external layer of pigmented epithelium is densely packed in the peripheral region of the photoreceptor layer, whereas in G. affinis, it is composed of epithelial cells in the peripheral region but is less thick. The visual cell layer includes simple and double cones; A. kirkii has a greater abundance and larger size of cones compared to G. affinis. The outer nuclear layer, which contains the visual cell bodies, is thicker in A. kirkii than in G. affinis. The outer plexiform layer is narrower in A. kirkii, with higher densities of both bipolar and horizontal cells compared to G. affinis. The inner nuclear layer shows a heterogeneous cell composition and is more crowded in A. kirkii than in G. affinis. Additionally, disparities in the thickness of the inner limiting membrane and nerve fiber layer affect the transmission of signals from the retina to the brain. [ABSTRACT FROM AUTHOR]

Background and Aim: The sun conure (Aratinga solstitialis), a bird belonging to the Psittaciformes family, is a popular pet because of its bright color and beautiful appearance. The sun conure is a monomorphic bird with similar appearances between males and females, making sex identification difficult by observing the external morphology. Therefore, molecular techniques are utilized. Loop-mediated isothermal amplification (LAMP) is a molecular technique that is often applied for sex identification in birds and is a quick and simple method that can be used in the field. This study used the LAMP technique to improve sex identification in sun conures by observing the color change of hydroxy naphthol blue. Materials and Methods: Two primer sets, SunSpin-W and SunSpin-Z, were designed for sex identification in sun conures using the LAMP technique specific to the spindlin gene. The developed LAMP reaction was tested for optimal conditions, sensitivity, and specificity compared with the polymerase chain reaction (PCR) technique. Results: The SunSpin-W primer set amplified only female birds, whereas the SunSpin-Z primer set amplified DNA from both male and female birds. The primer sets were optimized at 62°C for 45 min. A positive result was visible to the naked eye from the color change of the reaction. In the LAMP assay, the lowest detectable concentration was 10 pg/µL and in the PCR assay, it was 1 ng/µL, while a 100% accuracy rate in sex identification was observed when comparing the LAMP assay results with the PCR assay. Conclusion: This study successfully developed a LAMP technique for sex identification of sun conure, which took 45 min to complete and can be expanded for use in the field. [ABSTRACT FROM AUTHOR]

One of the greatest strengths of Drosophila genetics is its easily observable and selectable phenotypic markers. The mini-white marker has been widely used as a transgenic marker for Drosophila transgenesis. Flies carrying a mini-white construct can exhibit various eye colors ranging from pale orange to intense red, depending on the insertion site and gene dosage. Because the two copies of the mini-white marker show a stronger orange color, this is often used for selecting progenies carrying two transgenes together in a single chromosome after chromosomal recombination. However, some GAL4 lines available in the fly community originally have very strong red eyes. Without employing another marker, such as GFP, generating a recombinant chromosome with the strong red-eyed GAL4 and a desired UAS-transgene construct may be difficult. Therefore, we decided to change the red eyes of GAL4 lines to orange color. To change the eye color of the fly, we tested the CRISPR/Cas9 method with a guide RNA targeting the white gene with OK371-GAL4 and elav-GAL4. After a simple screening, we have successfully obtained multiple lines of orange-eyed OK371-GAL4 and elav-GAL4 that still maintain their original expression patterns. All of these simple experiments were performed by undergraduate students, allowing them to learn about a variety of different genetic experiments and genome editing while contributing to the fly research community by creating fruit fly lines that will be used in real-world research. [ABSTRACT FROM AUTHOR]

During the last 60 years many inherited traits in domestic outbred cats were selected and retained giving birth to new breeds characterised by singular coat or morphological phenotypes. Among them, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Various established breeds also introduced this trait in their lineages. The trait, that was confirmed as autosomal dominant by breeding data, was first described in domestic cats from Kazakhstan and Russia, in British shorthair and British longhair from Russia, and in Maine Coon cats from the Netherlands, suggesting different founding effects. Using a genome‐wide association study we identified a single region on chromosome C1 that was associated with the minimal white spotting and blue eyes phenotype (also called DBE by breeders for dominant blue eyes) in the French Celestial breed. Within that region we identified Paired Box 3 (PAX3) as the strongest candidate gene, since PAX3 is a key regulator of MITF (Melanocyte‐InducingTranscriptionFactor) and PAX3 variants have been previously identified in various species showing white spotting with or without blue eyes including the mouse and the horse. Whole genome sequencing of a Celestial cat revealed an endogenous retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 known to contain regulatory sequences (conserved non‐coding element [CNE]) involved in PAX3 expression. The insertion is in the vicinity of CNE2 and CNE3. All 52 Celestial and Celestial‐mixed cats with a DBE phenotype presented the insertion, that was absent in their 22 non‐DBE littermates and in 87 non‐DBE cats from various breeds. The outbred Celestial founder was also heterozygous for the insertion. Additionally, the variant was found in nine DBE Maine Coon cats related to the Celestial founder and four DBE Siberian cats with an uncertain origin. Segregation of the variant in the Celestial breed is consistent with dominant inheritance and does not appear to be associated with deafness. We propose that this NC_018730.3:g.206974029_206974030insN[395] variant represents the DBECEL (Celestial Dominant Blue Eyes) allele in the domestic cat. [ABSTRACT FROM AUTHOR]

Although CRISPR/Cas9 has been widely used in insect gene editing, the need for the microinjection of preblastoderm embryos can preclude the technique being used in insect species with eggs that are small, have hard shells, and/or are difficult to collect and maintain outside of their normal environment. Such is the case with Sogatella furcifera, the white‐backed planthopper (WBPH), a significant pest of Oryza sativa (rice) that oviposits inside rice stems. Egg extraction from the stem runs the risk of mechanical damage and hatching is heavily influenced by the micro‐environment of the rice stem. To bypass these issues, we targeted embryos prior to oviposition via direct parental (DIPA)‐CRISPR, in which Cas9 and single‐guide RNAs (sgRNAs) for the WBPH eye pigment gene tryptophan 2,3‐dioxygenase were injected into the hemocoel of adult females. Females at varying numbers of days posteclosion were evaluated to determine at what stage their oocyte might be most capable of taking up the gene‐editing components. An evaluation of the offspring indicated that the highest G0 gene‐edited efficacy (56.7%) occurred in females injected 2 d posteclosion, and that those mutations were heritably transmitted to the G1 generation. This study demonstrates the potential utility of DIPA‐CRISPR for future gene‐editing studies in non‐model insect species and can facilitate the development of novel pest management applications. [ABSTRACT FROM AUTHOR]

[Display omitted] • Novel eye-sensitive Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :Tb3+/Mn4+ were synthesized by simple co-precipitation strategy. • Red phosphor presents extremely strong ZPL at ∼ 625 nm and high color purity. • Red and green phosphors exhibit inherently outstanding thermal stability and moisture resistance. • Red and green phosphors coated directly on UV chip can achieve white emission. • The fabricated WLED devices show excellent electroluminescent properties. Novel eye-sensitive Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :Tb3+ green and Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :Mn4+ red oxyfluoride phosphors with extremely strong absorption in the UV region were designed and synthesized by simple co-precipitation strategy. Particularly, Tb3+ ions were doped in this matrix for the first time, which greatly improves their absorption efficiency in the near ultraviolet region (367 nm) and emits sharp green light (544 nm). In addition, the Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :Mn4+ red phosphors have strong zero phonon line (ZPL) emission at 625 nm, which is conducive to improving the sensitivity of human eye and color purity. Meanwhile, the optical properties of the red phosphor are significantly enhanced via doping K+ cations as charge compensators. Crystal field environment and nephelauxetic effect of the as-prepared phosphors before and after K+ cation doping were systematically analyzed. Moreover, these synthesized red/green phosphors have good thermal stability and moisture resistance. Remarkably, the as-prepared Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :5%Mn4+ or K 0.9 Ba 2.1 Nb 2 O 2 F 12 (H 2 O) 2 :5%Mn4+ red phosphors can be directly mixed with the as-synthesized Ba 3 Nb 2 O 2 F 12 (H 2 O) 2 :13%Tb3+ green phosphor coating on 365 nm near-ultraviolet LED chip to package WLED devices with excellent electroluminescence performance. These findings are conducive to opening an avenue for screening the unique structure of optical materials. [ABSTRACT FROM AUTHOR]

While clustered regularly interspaced short palindromic repeats (CRISPR)–Cas9 technology has demonstrated remarkable promise as a gene-editing tool, its application in certain insects, such as the jewel wasp, Nasonia vitripennis , has been hindered by a lack of a tractable method for reagent delivery. Direct Parental (DIPA-) CRISPR recently emerged as a facile way to induce gene lesions because it involves adult injection with commercially available Cas9–sgRNA with no helper reagent. However, DIPA-CRISPR has so far been tested in only a few insects. Here, we have assessed the amenability of DIPA-CRISPR in N. vitripennis by targeting two eye pigmentation genes, cinnabar and vermilion , which function in the ommochrome pathway. Successful generation of lesions in both genes demonstrated the functionality of DIPA-CRISPR in N. vitripennis and its potential application to other genes, thereby expanding the range of insects suitable for this method. We varied two parameters, Cas9–sgRNA concentration and injection volume, to determine optimal injection conditions. We found that the larger injection volume coupled with either higher or lower reagent concentration was needed for consistent mutation production. However, DIPA-CRISPR yields an overall low mutation rate in N. vitripennis when compared to other tested insects, a characteristic that may be attributed to a proportionally low vitellogenic import efficiency in the jewel wasp. We discuss different factors that may be considered in determining when DIPA-CRISPR may be preferable over other reagent delivery methods. [ABSTRACT FROM AUTHOR]

Simple Summary: Aesthetic traits are major components of modern feline breeds. Each breed is defined by a standard specifying morphology; coat length, texture, and colour; and eye colour. Considering the coat and eye colour may help breeders in managing their breeding stocks to optimise their mating, but it also has an impact on the health and well-being of cats. Indeed, some colours and patterns may be associated with deleterious traits. Recently, a new coat and eye pattern has been described in cats. It has been called "dominant blue eyes (DBE)" and includes one or two blue eyes or particolored eyes and minimal white spotting. Different feline breeding lines were developed for DBE, and in some lineages, deafness has been identified as being associated with this trait. The Altai and Topaz breeds were created using DBE founding cats found in Kazakhstan and Russia. The Celestial breed, recognised in France, was created using a DBE outbred male from Kazakhstan and British shorthair and longhair cats. Other breeds, including the Maine Coon, British, Persian, Siberian, Sphynx, and Munchkin cats, introduced DBE. We have previously identified two variants associated with DBE, and here, we report the discovery of a third DBE variant. Finally, we review the presence of the three DBE variants in 14 feline breeding lines. During the last twenty years, minimal white spotting associated with blue eyes was selected by feline breeders to create the Altai, Topaz, and Celestial breeds. Additionally, certain breeders introduced this trait in their lineages of purebred cats. The trait has been called "dominant blue eyes (DBE)" and was confirmed to be autosomal dominant in all lineages. DBE was initially described in outbred cats from Kazakhstan and Russia and in two purebred lineages of British cats from Russia, as well as in Dutch Maine Coon cats, suggesting different founding effects. We have previously identified two variants in the Paired Box 3 (PAX3) gene associated with DBE in Maine Coon and Celestial cats; however, the presence of an underlying variant remains undetermined in other DBE breeding lines. Using a genome-wide association study, we identified a single region on chromosome C1 that was associated with DBE in British cats. Within that region, we identified PAX3 as the strongest candidate gene. Whole-genome sequencing of a DBE cat revealed an RD-114 retrovirus LTR (long terminal repeat) insertion within PAX3 intron 4 (namely NC_018730.3:g.206975776_206975777insN[433]) known to contain regulatory sequences. Using a panel of 117 DBE cats, we showed that this variant was fully associated with DBE in two British lineages, in Altai cats, and in some other DBE lineages. We propose that this NC_018730.3:g.206975776_206975777insN[433] variant represents the DBEALT (Altai Dominant Blue Eye) allele in the domestic cat. Finally, we genotyped DBE cats from 14 lineages for the three PAX3 variants and showed that they were not present in four lineages, confirming genetic heterogeneity of the DBE trait in the domestic cat. [ABSTRACT FROM AUTHOR]

Objective: This study assesses the accuracy of the IrisPlex system, a genetic eye color prediction tool for forensic analysis, in the Kazakh population. The study compares previously published genotypes of 515 Kazakh individuals from varied geographical and ethnohistorical contexts with phenotypic data on their eye color, introduced for the first time in this research. Results: The IrisPlex panel's effectiveness in predicting eye color in the Kazakh population was validated. It exhibited slightly lower accuracy than in Western European populations but was higher than in Siberian populations. The sensitivity was notably high for brown-eyed individuals (0.99), but further research is needed for blue and intermediate eye colors. This study establishes IrisPlex as a useful predictive tool in the Kazakh population and provides a basis for future investigations into the genetic basis of phenotypic variations in this diverse population. [ABSTRACT FROM AUTHOR]

The melon fly (Zeugodacus cucurbitae) is widely distributed throughout the world with more than 81 host species in which fruit losses can range from 30 to 100 per cent. CRISPR-Cas9 mediated gene editing has the potential to bring an area wide management of this devastating pest. The sgRNA employed in a CRISPR/Cas9 experiment has a significant impact on the efficiency of mutagenesis. In this study, scarlet gene of melon fly that encodes ATP-binding cassette (ABC) transporters, which are responsible for the translocation of various eye pigments into the proper eye compartment, was selected as target gene since it can impart a visual phenotype on mutation, which is a shift from wild brick red to mutant yellow eye colour. The scarlet gene coding region of size 2454 bp was amplified, cloned using pTZ57R/T vector followed by sequencing. From the sequences obtained, three sgRNAs (sgRNA1, sgRNA2 and sgRNA3) were designed using CHOP-CHOP and CRISPOR online tools, considering different principles such as the presence of protospacer adjacent motif (PAM) region, NGG; GC content (35-50%) and the secondary structures. The in vitro transcribed sgRNAs were incubated with Cas9 protein to form Ribo nucleo protein (RNP) complex. In vitro restriction assays were done to establish that the RNP complex effectively recognizes and cleaves the PCR amplified scarlet gene by releasing fragments upon gel analysis. The sgRNA2 and sgRNA3 have shown successful in vitro restriction with fragments of 2454bp, 2055bp, 393 bp and 2454 bp, 1958 bp, 496 bp, respectively. The failure of sgRNA1 might be due to the deviation from ideal secondary structure. It is evident that despite the in silico predictions, not all sgRNAs exhibit the same cleavage effectiveness. To discover this contradiction, in vitro technique offers selection of most efficient sgRNAs that may effectively cause double-stranded break at specific targets prior to delivering genome editing agents into live cells. [ABSTRACT FROM AUTHOR]

The variability of camel hair fibers physical-mechanical properties across sampling body areas and phaneroptics continue to be relatively unexplored topics in scientific literature. With the aim to valorize camel hair fibers, the present investigation has examined, through discriminant canonical analysis, fiber properties of Canarian camel hair regarding the body region sampled by comparing them with Merino sheep wool, world’s most demanded textile fiber. Additionally, camel hair attribute differences depending on phaneroptics such as coat or eye color and particularities have been determined. Diameter at the base of the fiber is higher for adult camels and increases from the mid-region to the back of the animal. Besides, the highest variability in both staple length and mean diameter was found for camel shoulder and hump fibers. Camel tail dock was the region with the finest fibers but also the one accounting for the highest percentage of residual dirt. Coat color and particularities were unlikely to significantly (p

Cutaneous melanoma (CM) is a candidate for screening programs because its prognosis is excellent when diagnosed at an early disease stage. Targeted screening of those at high risk for developing CM, a cost-effective alternative to population-wide screening, requires valid procedures to identify the high-risk group. Self-assessment of the number of nevi has been suggested as a component of such procedures, but its validity has not yet been established. We analyzed the level of agreement between self-assessments and examiner assessments of the number of melanocytic nevi in the area between the wrist and the shoulder of both arms based on 4548 study subjects in whom mutually blinded double counting of nevi was performed. Nevus counting followed the IARC protocol. Study subjects received written instructions, photographs, a mirror, and a “nevometer” to support self-assessment of nevi larger than 2 mm. Nevus counts were categorized based on the quintiles of the distribution into five levels, defining a nevus score. Cohen’s weighted kappa coefficient (κ) was estimated to measure the level of agreement. In the total sample, the agreement between self-assessments and examiner assessments was moderate (weighted κ = 0.596). Self-assessed nevus counts were higher than those determined by trained examiners (mean difference: 3.33 nevi). The level of agreement was independent of sociodemographic and cutaneous factors; however, participants’ eye color had a significant impact on the level of agreement. Our findings show that even with comprehensive guidance, only a moderate level of agreement between self-assessed and examiner-assessed nevus counts can be achieved. Self-assessed nevus information does not appear to be reliable enough to be used in individual risk assessment to target screening activities.

The most significant genetic influence on eye color pigmentation is attributed to the intronic SNP rs12913832 in the HERC2 gene, which interacts with the promoter region of the contiguous OCA2 gene. This interaction, through the formation of a chromatin loop, modulates the transcriptional activity of OCA2, directly affecting eye color pigmentation. Recent advancements in technology have elucidated the precise spatial organization of the genome within the cell nucleus, with chromatin architecture playing a pivotal role in regulating various genome functions. In this study, we investigated the organization of the chromatin close to the HERC2/OCA2 locus in human lymphocyte nuclei using fluorescence in situ hybridization (FISH) and high-throughput chromosome conformation capture (Hi-C) data. The 3 Mb of genomic DNA that belonged to the chromosomal region 15q12-q13.1 revealed the presence of three contiguous chromatin loops, which exhibited a different level of compaction depending on the presence of the A or G allele in the SNP rs12913832. Moreover, the analysis of the genomic organization of the genes has demonstrated that this chromosomal region is evolutionarily highly conserved, as evidenced by the analysis of syntenic regions in species from other Vertebrate classes. Thus, the role of rs12913832 variant is relevant not only in determining the transcriptional activation of the OCA2 gene but also in the chromatin compaction of a larger region, underscoring the critical role of chromatin organization in the proper regulation of the involved genes. It is crucial to consider the broader implications of this finding, especially regarding the potential regulatory role of similar polymorphisms located within intronic regions, which do not influence the same gene by modulating the splicing process, but they regulate the expression of adjacent genes. Therefore, caution should be exercised when utilizing whole-exome sequencing for diagnostic purposes, as intron sequences may provide valuable gene regulation information on the region where they reside. Thus, future research efforts should also be directed towards gaining a deeper understanding of the precise mechanisms underlying the role and mode of action of intronic SNPs in chromatin loop organization and transcriptional regulation. [ABSTRACT FROM AUTHOR]

Fishes in marine caves have attracted limited attention by the scientific community in comparison to subterranean fishes which have lost eyes and pigmentation. They constitute a largely unexplored component of marine fish diversity, except for the relatively well-studied marine caves of the Mediterranean Sea. These habitats are characterized by steep environmental gradients of decreasing light and decreasing water exchange. The fishes recorded so far in marine caves are not exclusive residents of this habitat and they are also present at least in the other mesolithial habitats. In the Mediterranean marine caves, 132 fishes have been recorded to date, representing about 17% of the total Mediterranean fish species richness. Most of these species are reported from the anterior cave zones where some light still exists, while a smaller number of species are known from the totally dark zones. Among them, 27.3% are accidental visitors, 53.8% are the regular mesolithial visitors and switchers between mesolithion and open water, 5.3% are permanent residents of the mesolithion, but also occur in other habitats, and 13.6% are exclusive permanent residents of mesolithion. Some mesolithial exclusive permanent residents recorded in marine caves share similar morphology, probably as adaptations to these habitats. [ABSTRACT FROM AUTHOR]

The problems of the relationship between the cultures of the Volga-Kama region in general and the formation of the Udmurt ethnos involve scientists of various specializations. The main task of this work is to make a comprehensive description of the burial from the Tolyonsky burial ground located on the territory of the Debessky district of Udmurtia on the right bank of the Cheptsy River. Excavations were carried out by V.A. Semenov in the 1980s. Archaeological and anthropological material is stored in the Ivanova Historical and Cultural Museum-Reserve Idnakar of the Udmurt Republic. The absolute radiocarbon dating of the sample was obtained: 1440 ± 69 years. An anthropological study of the remains revealed a predominant body type as thoracic or pectorally muscular; the living body length was 166 cm. The studied individual was distinguished by brachycephaly, large latitudinal dimensions of the face, and a protruding nose shape. A scientific restoration of the appearance by the method of M.M. Gerasimov was carried out; contour and graphic portraits (full face and profile) were presented. Taking into account the results of genetic analysis, a watercolor artistic portrait was made. For the first time, comprehensive paleogenetic studies have been carried out on a representative of the Polomskaya archaeological culture. The Y-chromosomal haplogroup N1a1a1a2b (B181) and the mitochondrial haplogroup U4 have been established with high reliability. The identified haplogroups in individual no. 93 from the Tolyonsky burial ground along the male and female lines are geographically confined to the Central Volga-Ural region, which is consistent with the results of anthropological and archaeological research. With a probability of more than 97%, the color of the iris of the eyes is predicted to be blue in this individual. [ABSTRACT FROM AUTHOR]

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The adaptation of animals to subterranean habitats like caves and aquifers stereotypically leads to dramatic trait‐loss consequences like the lack of eyes and body pigmentation. These body plan regression trends are expected to be tied to gene loss as well. Indeed, previous studies documented the degeneration of vision genes in obligate cave dwellers. Contradicting this picture, the first broad‐scale comparative transcriptome‐wide study of gene content evolution in separate subterranean Australian and Mediterranean beetle clades unearthed evidence of global gene gain and retention. This suggests that the transition to cave life may be more contingent on gene repertoire expansion than contraction. Future studies, however, will need to examine how much the observed patterns of gene content evolution reflect subfunctionalization and fitness‐securing genetic redundancy outcomes following gene duplication as opposed to adaptive trajectories. [ABSTRACT FROM AUTHOR]

Existing imaging genetics studies have been mostly limited in scope by using imaging-derived phenotypes defined by human experts. Here, leveraging new breakthroughs in self-supervised deep representation learning, we propose a new approach, image-based genome-wide association study (iGWAS), for identifying genetic factors associated with phenotypes discovered from medical images using contrastive learning. Using retinal fundus photos, our model extracts a 128-dimensional vector representing features of the retina as phenotypes. After training the model on 40,000 images from the EyePACS dataset, we generated phenotypes from 130,329 images of 65,629 British White participants in the UK Biobank. We conducted GWAS on these phenotypes and identified 14 loci with genome-wide significance (p<5×10−8 and intersection of hits from left and right eyes). We also did GWAS on the retina color, the average color of the center region of the retinal fundus photos. The GWAS of retina colors identified 34 loci, 7 are overlapping with GWAS of raw image phenotype. Our results establish the feasibility of this new framework of genomic study based on self-supervised phenotyping of medical images. Author summary: Imaging genetics is a research field focused on understanding how genetic variations influence observable traits or diseases that can be visualized through medical imaging. Previous studies in imaging genetics have mostly relied on traits identified by human experts. In this study, we used a self-supervised contrastive learning algorithm that automatically identifies features in fundus images that are unique to each individual yet consistent between their left and right eyes. These features are represented as a set of 128 numbers that can quantitatively describe the characteristics of each individual's fundus images without human labeling bias. We then conducted genome wide association studies (GWAS) to explore the associations between these features and genetic variations using paired fundus images and genetic data from the UK Biobank. Our findings indicate that these features are linked to genetic signals associated with eye measurements, eye diseases, pigmentation, and vessel development. Additionally, we found that GWAS of this set of features identified new genetic signals not detected in GWAS only using retina color. These results establish the feasibility of this self-supervised phenotyping approach for imaging genetics studies. [ABSTRACT FROM AUTHOR]