Eye Color Research Articles

Nevus Count, Pigmentary Characteristics, and Melanoma-specific Mortality among Norwegian Women with Melanoma >1.0 mm Thick.

Little is known about if and how nevi and pigmentation are associated with melanoma-specific mortality. However, increased melanoma awareness in people with lighter pigmentation and many nevi may result in earlier diagnosis of thinner less-lethal tumors. The aim of this study was to investigate associations between nevus count (asymmetrical > 5 mm and small symmetrical), pigmentary characteristics (hair colour, eye colour, skin colour, freckling, pigmentary score), and melanoma-specific mortality in subjects with melanomas > 1 mm. Data from the Norwegian Women and Cancer cohort, established in 1991, with complete follow-up of melanoma patients until 2018 through the Cancer Registry of Norway, were used to estimate hazard ratios with 95% confidence intervals for the associations between nevus count, pigmentary characteristics, and melanoma-specific mortality, stratified by tumor thickness using Cox regression. Estimated hazard ratios consistently indicated a higher risk of melanoma death for those with darker vs lighter pigmentary characteristics in patients with tumors > 1.0-2.0 mm and > 2.0 mm thick (e.g. pigmentary score hazard ratio 1.25, 95% confidence interval (0.74-2.13)). Among women with melanomas > 1.0 mm thick, lighter pigmentation and asymmetrical nevi may be associated with lower melanoma-specific mortality, suggesting that factors that increase the risk of melanoma may also be associated with decreased risk of death from melanoma.

Slit-Robo expression in the leech nervous system: insights into eyespot evolution

BackgroundSlit and Robo are evolutionarily conserved ligand and receptor proteins, respectively, but the number of slit and robo gene paralogs varies across recent bilaterian genomes. Previous studies indicate that this ligand-receptor complex is involved in axon guidance. Given the lack of data regarding Slit/Robo in the Lophotrochozoa compared to Ecdysozoa and Deuterostomia, the present study aims to identify and characterize the expression of Slit/Robo orthologs in leech development.ResultsWe identified one slit (Hau-slit), and two robo genes (Hau-robo1 and Hau-robo2), and characterized their expression spatiotemporally during the development of the glossiphoniid leech Helobdella austinensis. Throughout segmentation and organogenesis, Hau-slit and Hau-robo1 are broadly expressed in complex and roughly complementary patterns in the ventral and dorsal midline, nerve ganglia, foregut, visceral mesoderm and/or endoderm of the crop, rectum and reproductive organs. Before yolk exhaustion, Hau-robo1 is also expressed where the pigmented eye spots will later develop, and Hau-slit is expressed in the area between these future eye spots. In contrast, Hau-robo2 expression is extremely limited, appearing first in the developing pigmented eye spots, and later in the three additional pairs of cryptic eye spots in head region that never develop pigment. Comparing the expression of robo orthologs between H. austinensis and another glossiphoniid leech, Alboglossiphonia lata allows to that robo1 and robo2 operate combinatorially to differentially specify pigmented and cryptic eyespots within the glossiphoniid leeches.ConclusionsOur results support a conserved role in neurogenesis, midline formation and eye spot development for Slit/Robo in the Lophotrochozoa, and provide relevant data for evo-devo studies related to nervous system evolution.

Artificial Intelligence Approach to Reduce PCR Tests

Nowadays, the Covid-19 crisis is the biggest global challenge to control. All scientists have been working during the last two years to find solutions for this crisis in numerous ways. Therefore, identifying a person having Covid-19, before entering public places and mainly to the hospitals is a timely need to reduce the transmission of the virus. Polymerase chain reaction (PCR) test is the primary diagnostic tool used to identify Covid-19 patients. However, due to the vast number of patients, the demand for PCR diagnostic assays cannot be met. This research study was primarily concerned with eliminating PCR testing to a certain extent through intelligent approaches. This paper discusses a model using computer vision-based approaches for detecting Covid-19. The automated testing technique, which is based on a questionnaire and eye color scanning, was performed with artificial intelligence-based image processing. This device is capable of recognizing the Covid-19 patients before they enter into hospitals or public locations. The CNN model was developed using an open-source data set provided by the world health organization (WHO). The result demonstrates an 89% accuracy, concluding that this system indicates an excellent prediction performance for the Covid-19 diagnosis.

Investigations on the incidence of deafness in Van cats and its distribution by eye color

This study aims to demonstrate the incidence of deafness in Van cats and its distribution by eye color. A total of 300 Van cats aged between 2 months and 8 years were classified into three separate groups (equal in number) subjected to hearing tests using Clinical ABR (Auditory Brain Response) device. In this study, the incidence of deafness in Van cats was found to be 14.33%. Moreover, it was determined that deafness was not related to sex and hair length. Van cats with spots on their heads did not have deafness. The hearing thresholds showed that most Van cats had a very good level of hearing (0-10 dB nHL). The incidence of unilateral deafness was much lower in Van cats than it was in other white cat breeds. By means of this study, the breeding of the cats found to be deaf according to the results of ABR test will be prevented, and in this way we believe that the incidence of deafness in Van cats will decrease in future. This study is the first deafness study conducted in Van cats and it is worth to present as the findings of the study will shed light on future studies.

Luminous Flux in Ex-Vivo Porcine Eyes during Endoillumination and during Transscleral Illumination Depending on the Transmission Properties of the Eyewall

(1) Background: During eye surgery, it is important that sufficient light enlightens the inside of the eye for small structures to become visible. The intraocular brightness is influenced by the luminous flux of the illumination system. However, the intraocular luminous flux during surgery has not been investigated so far. Insufficient luminous flux makes vision difficult for the surgeon, whereas excessive luminous flux can cause damage to the retina. Therefore, the luminous flux in lightly and strongly pigmented eyes is determined by endoillumination and diaphanoscopic illumination. (2) Methods: First, the luminous flux emitted from a diaphanoscopic illumination fiber is measured. For determining the intraocular luminous flux, this is multiplied with the transmission properties of the eyewall, which are determined for ex vivo porcine eyes. In order to compare the luminous flux of transscleral illumination with that of endoillumination, the luminous flux of various endoillumination fibers is examined. (3) Results: The results reveal that the total transmission of the eyewall is up to 2.5 times higher for blue/lightly pigmented eyes than for brown/strongly pigmented eyes. With this, the intraocular luminous flux in ex vivo porcine eyes is around 95% higher for less pigmented eyes than for strong pigmented eyes, considering intraocular reflections. (4) Conclusion: To obtain the same brightness in blue and brown eyes, the surgeon can reduce the intensity of the light source when illuminating blue eyes to reduce their retinal risk.

Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders

Age-related macular degeneration (AMD), cataract, and glaucoma are leading causes of blindness worldwide. Previous genome-wide association studies (GWASs) have revealed a variety of susceptible loci associated with age-related ocular disorders, yet the genetic pleiotropy and causal genes across these diseases remain poorly understood. By leveraging large-scale genetic and observational data from ocular disease GWASs and UK Biobank (UKBB), we found significant pairwise genetic correlations and consistent epidemiological associations among these ocular disorders. Cross-disease meta-analysis uncovered seven pleiotropic loci, three of which were replicated in an additional cohort. Integration of variants in pleiotropic loci and multiple single-cell omics data identified that Müller cells and astrocytes were likely trait-related cell types underlying ocular comorbidity. In addition, we comprehensively integrated eye-specific gene expression quantitative loci (eQTLs), epigenomic profiling, and 3D genome data to prioritize causal pleiotropic genes. We found that pleiotropic genes were essential in nerve development and eye pigmentation, and targetable by aflibercept and pilocarpine for the treatment of AMD and glaucoma. These findings will not only facilitate the mechanistic research of ocular comorbidities but also benefit the therapeutic optimization of age-related ocular diseases.

Genome editing of the vermilion locus generates a visible eye color marker for Oncopeltusfasciatus

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. Oncopeltusfasciatus 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 Drosophilarosy, 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.

Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals

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.

Characterization and performance evaluation of indigenous geese of Assam

The present study aimed to phenotypically characterize the indigenous geese of Assam, in North East India. These geese were observed to have two types of plumage colour (white and cinnamon) and plumage pattern (solid and bordered); and three different bill colours (black, orange, yellow). The shank and feet colour was found to be mostly orange and sometimes yellow. The eye colour was found to be black, brown and sometimes grey and skin colour as white. The least squares means for body weight at hatching, 4, 6-8 and 12 months and above age were 0.087±0.001, 3.030±0.022, 3.480±0.055 and 3.970±0.025 kg, respectively. The average age at first egg, annual egg production, clutch size and clutch interval were 320.196±2.882 days, 19.886±0.306, 9.897±0.143 and 59.206±0.531 days. Average fertility and hatchability percentage under natural condition were found to be 87.11% and 80.53%, respectively. The study revealed that the indigenous geese of Assam are heavier birds with high potential for meat production with two colour variants, viz. White and Cinnamon in the study area covering four districts. The study generated baseline information on physical characteristics, productive and reproductive performances of indigenous geese of Assam under native field condition which would be of great help in documentation and development of breed descriptors for registration, improvement and conservation.

PERFORMA KUALITATIF DAN KUANTITATIF AYAM KAMPUNG (Gallus Gallus Domesticus) DI PETERNAKAN PEMBIBITAN THE MOTHER

This study aims to identify the quantitative and qualitative performance of native chickens in The Mother breeding farm. This study used 50 male native chickens and 50 female native chickens aged 7 months. Variables observed included body hair pattern color, comb shape, comb color, shank color, eye color, beak color, body weight, chest circumference, shank length, shank circumference, body length, pubic bone length to chest, pubic bone distance and length wing span. Data were analyzed using descriptive analysis. The results of this study indicate that the body color of the male is Columbian (100%), while the female is solid black (62%), columbian (22%) and speckled or dotted (16%). The male cockscomb is pea (86%) and single (14%), while the female is pea (70%), walnut (20%) and single (10%). The color of the male comb is red (100%), while the female is red (98%) and black (2%). The shank color of males is yellow (74%), black (14%) and white (12%), females are black (74%), white (16%) and yellow (10%). Male eye color is orange (76%) and yellow (24%), while females are orange (66%), yellow (20%) and brown (14%). The color of the male's beak is yellow (54%), black and yellow (38%) and white (8%), while the female's beak is black and yellow (82%), yellow (10%) and white (8%). The results of the quantitative characteristics of the study showed that the male body weight was 2.22 ± 2.02 kg and the female was 1.71 ± 0.25 kg, the male chest circumference was 33.9 ± 3.68 cm and the female was 30.67 ± 2.08 cm, the length male shank 9.61 ± 0.89 cm and female 27 ± 0.59 cm, male shank circumference 5.52 ± 0.65 cm and female 4.4 ± 0.5 cm, male body length 20.27 ± 1.17 cm and female 20.40 ± 2.27 cm, the length of the pubic bone to the chest of the female is 7.87 ± 1.06 cm, the distance between the pubic bones is 2.8 ± 0.49 cm, the length of the male wing span is 23.28 ±2.18 cm and females 16.61±2.44 cm. The conclusion of this study is that the quantitative and qualitative characteristics of free-range chickens on The Mother farm are diverse and selection can be made. Keywords: Domestication chicken, Selection, Quality breeds, Lampung Province

Using mathematical modeling, identify the repetition and progression of the human eye's colour pattern

The formation of human eyes is basically a result of genetic mutation process. The colour of eyes is determined by variation of genes which are associated with eye colour to produce transport or storage of a pigment is called melanin. In this research this aspect is confirm with the theory of Jordan algebra which has invented from an associative algebra which is relative to the arrangement, this scheme is called special Jordan algebras. To verifying the eyes colour mutation an appropriate number of datasets are collected from survey and observation, similar result found from the collected datasets which show that, the human eyes colour which is an outcome of genetic mutation of eye genes which appeared in first generation is mostly skip in second generation cycle and same process is repeat in generation to generations. The climate of Pakistan is usually varying in region to region because of temperature its dry and warm near the coastline and low-lying region and gradually cooler in the northern highland’s areas. Mostly in coldest area of Pakistan the colour of eyes are lighter but in some warm areas the lighter eyes colour in eyes colour in eyes causes different types of eyes disease. Lighter eye colour is more sensitive to light because of less amount of melanin. Melanin protects eyes from sun light due to lesser amount of melanin there is chances of macular degeneration (an eye disease that can blur your central vision). The darker coloured eyes practice less visual discomfort in sun light, mean it help in protection from ultraviolet (UV) rays. Lighter coloured of eyes increased the risk of cancer because of less amount of melanin which cannot/less protect eyes from sun light which is very harmful and increase the chance of cancer. Colour vision deficiency, sometime called colour blindness is usually a genetic (hereditary) condition transfer into next generation. Colour blindness is a cause of less melanin ration, the prediction of repetition of eye colour of next generation can be helpful to stop the problem of colour blindness.

Like mother, like daughter: Adults' judgments about genetic inheritance.

Do adults think about genetic inheritance as a deterministic or probabilistic process? Do adults display systematic biases when reasoning about genetic inheritance? Knowing how adults think about genetic inheritance is valuable, both for understanding the developmental end point of these concepts and for identifying biases that persist even after formal education. In two studies, we examined adults' reasoning about genetic inheritance for familiar animals (Study 1) and unfamiliar animals (Study 2). First, participants were presented with animals that varied in eye color and were asked to judge whether each could be the offspring of a particular set of animal parents that had either the same or different eye colors. The potential offspring had eye colors that were either identical to the parents, blended the parents' eye colors, or differed from the parents. Next, participants predicted how six offspring of the animal parents would look. Participants judged a variety of choices as possible-not only the ones resembling the parents-suggesting that they thought genetic inheritance was a probabilistic process. Additionally, many participants thought that female offspring would look more like their mothers and male offspring would look more like their fathers. Thus, systemic biases in reasoning about inheritance persist into adulthood. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

First report on CRISPR/Cas9 mediated editing of the eye colour gene, Tryptophan 2, 3-dioxygenase in egg plant shoot and fruit borer Leucinodes orbonalis Guenée (Lepidoptera: Crambidae)

First report on CRISPR/Cas9 mediated editing of the eye colour gene, Tryptophan 2, 3-dioxygenase in egg plant shoot and fruit borer Leucinodes orbonalis Guenée (Lepidoptera: Crambidae)

Solute Carrier Family 45 Member 2 Germline Variants in the Colombian Population with Melanoma

Background: The solute carrier family 45-member 2 (SLC45A2) gene, located on chromosome 5p13.2, is involved in melanin biosynthesis. Single-nucleotide variants (SNVs) in this gene are associated with skin, eye, and hair color variations in the population. SNVs p.L374F (C/T) and p.E272K (C/G) are additionally associated with protection against melanoma. Objectives: This study aimed to evaluate the association of SNVs p.L374F and p.E272K with the development of melanoma in a sample of individuals from Bogotá, Colombia. Methods: In this case-control study, DNA samples were obtained from individuals after signing an informed consent form. Genotyping was performed by real-time polymerase chain reaction high-resolution melting (PCR-HRM). Results: Phototype II was found in 19% of the subjects, phototype III in 70%, and phototype IV in 11%. Eighty percent of the subjects had brown eyes and dark brown hair color. Both SNVs were in Hardy-Weinberg equilibrium. The p.Glu272Lys variant was found to be a protective factor for melanoma, while the p.Phe374Leu variant was found to be a risk factor. The study also found that a CG haplotype was a risk factor for melanoma [odds ratio (OR), 2.75; 95% CI, 1.22 - 6.22; P = 0.021]. The study also found a strong correlation between variants and phototypes, as well as the sex of the patients. The study also analyzed the impact of these variants on the protein structure and found that the p.Phe374Leu variant has a probable pathogenic effect on the function of the protein. Conclusions: The frequencies found for the SLC45A2 gene variants are consistent with other studies conducted in the Latin American population, where the predominant phototypes are II and III. The CG haplotype is associated with a higher risk of melanoma.

The Distribution of Iris Colour and Its Relationship to Myopiain Bangladeshi Patients

Background: Myopia, or nearsightedness, affects a large percentage of the population and is typically identified in those under the age of 20. Having myopia makes it difficult to see far away. While you have no issue seeing nearby items, such as those used to indicate aisles in a grocery store, you may have trouble seeing further away ones, such as road signs. Objective: In this study our main goal is to evaluate the distribution of iris colour and its relationship to myopiain Bangladeshi patients. Method: This cross-sectional study was carried out at tertiary hospital from March 2020 to December 2021, researchers from several fields and sessions worked together on a single unified study. There were a total of 100 people, with a best corrected visual acuity (BCVA) of 6/6, and ages ranging from 11 to 25 years old. Patients were limited to no more than six hours of television every day. All three degrees of myopia (mild, moderate, and severe) were covered. Results: During the study, 51% belong to 10-15 years followed by 35% belong to 16-20 years and 14% belong to 21-25 years. In addition, among patients mild 55%, moderate 21%, and severe 24% myopia. Screen time, significantly associated with myopia. 40% who had screen time was 1-2 hours had severe level myopia. Followed by 45% who had screen time was 2-4 hours had severe level myopia and 50% who had screen time was 4-6 hours had severe level myopia. 66% who had mid-level myopia had grade I Irish color. Followed by 56% who had moderate level myopia had grade I Irish color and 50% severe level myopia had grade I Irish color. 66% who had simple myopia had grade I Irish color. Followed by 55% who had curvatural myopia had grade I Irish color. Conclusion: Darker iris color was linked to higher myopia-related refractive errors, even when other known myopia-related risk variables were taken into account.

Application of Forensic DNA Phenotyping for Prediction of Eye, Hair and Skin Colour in Highly Decomposed Bodies.

In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called "Forensic DNA Phenotyping" (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features-iris, hair, and skin colour-at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy.

A tunable reflector enabling crustaceans to see but not be seen

Many oceanic prey animals use transparent bodies to avoid detection. However, conspicuous eye pigments, required for vision, compromise the organisms' ability to remain unseen. We report the discovery of a reflector overlying the eye pigments in larval decapod crustaceans and show how it is tuned to render the organisms inconspicuous against the background. The ultracompact reflector is constructed from a photonic glass of crystalline isoxanthopterin nanospheres. The nanospheres' size and ordering are modulated to tune the reflectance from deep blue to yellow, enabling concealment in different habitats. The reflector may also function to enhance the acuity or sensitivity of the minute eyes by acting as an optical screen between photoreceptors. This multifunctional reflector offers inspiration for constructing tunable artificial photonic materials from biocompatible organic molecules.

Forensic Phenotyping

Forensic DNA phenotyping [FDP] is a new approach that uses DNA to create probabilistic inferences about a person’s observable traits. It is an amazing fact that helps us to learn about something from the object that they left behind at the scene of crime. The most discarded items like cigarette buds, chewing gums, Tobacco residue and bidi. From this discarded waste, it helps to extract a trace amount of DNA evidence to create a DNA profile of a person which helps to reconstruct a person’s face. This process can be done, with the identification of hair colour, height, eye colour, sex, age, and even morphology of the face, and the ancestry of criminal and accused persons with the help of their genetic constituents.

Evaluating the Mating Competency of Genetically Modified Male Mosquitoes in Laboratory Conditions.

Efforts to eradicate mosquito-borne diseases have increased the demand for genetic control strategies, many of which involve the release of genetically modified (GM) mosquito males into natural populations. The first hurdle for GM males is to compete with their wild-type counterparts for access to females. Here, we introduce an eye color-based mating assay, in which both Lvp wild-type and kynurenine 3-monooxygenase (kmo)-null males compete for access to kmo-null females, and therefore the eye color phenotype (black or white) of the progeny is dependent on the parental mating pair. A series of tests addressed that male mating competitiveness between the two strains can significantly be influenced by adult density, light intensity, and mating duration. Interestingly, the mating competitiveness of males was not correlated with body size, which was negatively influenced by a high larval density. Lastly, this eye color-associated assay was applied to characterize GM mosquitoes in their mating competitiveness, establishing this method as a fast and precise way of benchmarking this fitness parameter for laboratory-raised males.

Fluorenone Appended Colorimetric Sensor for Cascade Detection of Fluoride and Calcium Gluconate with Applications in Solid State and Logic Gate Systems

AbstractA novel fluorenone derived Schiff base chemosensor (1) has been synthesized as a colorimetric sensor for fluoride (F−) ions in CH3CN and characterized by various analytical techniques. The chemosensor 1 perceived high selectivity for F− ion detection in the presence of other anions along with naked eye color change from yellow to orange‐red with quantitative detection limit of 900 nM. The UV‐vis changes, density functional theoretical (DFT) calculations and 1H NMR titration studies pointed to F− ion induced deprotonation of −OH of sensor 1 that has been proposed to be responsible for the observed absorption as well as color changes. The sensor 1 has also been efficiently applied for the solid state concentration dependent naked eye detection of F− ions in the form of filter paper strips and smartphone applications. The in‐situ generated 1‐F− complex was further utilized for cascade recognition of calcium gluconate (CG). The reversible and reproducible changes produced by the addition of F− ions and CG enabled 1 to be used as “INHIBIT” molecular logic system and “SET/RESET” memorized device at the molecular level.