Genetic variability of the sws1 cone opsin gene among New World monkeys.

Vision is a major sense for Primates and the ability to perceive colors has great importance for the species ecology and behavior. Visual processing begins with the activation of the visual opsins in the retina, and the spectral absorption peaks are highly variable among species. In most Primates, LWS/MWS opsins are responsible for sensitivity to long/middle wavelengths within the visible light spectrum, and SWS1 opsins provide sensitivity to short wavelengths, in the violet region of the spectrum. In this study, we aimed to investigate the genetic variation on the sws1 opsin gene of New World monkeys (NWM) and search for amino acid substitutions that might be associated with the different color vision phenotypes described for a few species. We sequenced the exon 1 of the sws1 opsin gene of seven species from the families Callitrichidae, Cebidae, and Atelidae, and searched for variation at the spectral tuning sites 46, 49, 52, 86, 90, 93, 114, 116, and 118. Among the known spectral tuning sites, only residue 114 was variable. To investigate whether other residues have a functional role in the SWS1 absorption peak, we performed computational modeling of wild-type SWS1 and mutants A50I and A50V, found naturally among the species investigated. Although in silico analysis did not show any visible effect caused by these substitutions, it is possible that interactions of residue 50 with other sites might have some effect in the spectral shifts in the order of ~14 nm, found among the NWM. We also performed phylogenetic reconstruction of the sws1 gene, which partially recovered the species phylogeny. Further studies will be important to uncover the mutations responsible for the phenotypic variability of the SWS1 of NWM, and how spectral tuning may be associated with specific ecological features such as preferred food items and habitat use.

Visual losses in early-onset and late-onset Parkinson's disease.

Patients with Parkinson's disease (PD) manifest visual losses. However, it is not known whether these losses are equivalent in both early-onset (EOPD) and late-onset (LOPD) patients. We evaluated contrast sensitivity and color vision in EOPD and LOPD patients and in age-matched controls. Losses occurred in both patient groups but were more pronounced in EOPD, consistent with the notion that non-motor symptoms are affected by age of symptom onset. More studies of visual function in EOPD and LOPD patients are needed to understand how aging is related to the pathophysiology of non-motor PD symptomatology. This would permit earlier diagnosis and, perhaps, better management of the disease.

LWS visual pigment in owls: Spectral tuning inferred by genetics.

Owls constitute a diverse group of raptors, active at different times of the day with distinct light conditions that might be associated with multiple visual adaptations. We investigated whether shifts in the spectral sensitivity of the L cone visual pigment, as inferred by analysis of gene structure, could be one such adaptive mechanism. Using Sanger sequencing approach, we characterized the long wavelength-sensitive (LWS) opsin gene expressed in the retina of five owl species, specifically chosen to represent distinct patterns of activity. Nocturnality was epitomized by the American barn owl (Tyto furcata), the striped owl (Asio clamator), and the tropical screech owl (Megascops choliba); diurnality, by the ferruginous pygmy owl (Glaucudium brasilianum); and cathemerality, by the burrowing owl (Athene cunicularia). We also analyzed the presence of the L cone in the retinas of four species of owl (T. furcata, A. cunicularia, G. brasilianum and M. choliba) using immnunohistochemistry. Five critical sites for the spectral tuning of the LWS opsin (164, 181, 261, 269, and 292) were analyzed and compared to the sequence of other birds. The sequence of A. cunicularia showed a substitution on residue 269, with the presence of an alanine instead threonine, which generates an estimated maximum absorption (λmax) around 537 nm. No other variation was found in the spectral tuning sites of the LWS opsin, among the other species, and the λmax was estimated at around 555 nm. The presence of L cones in the retinas of the four species of owls was revealed using immunohistochemistry and we observed a reduced number of L cones in T. furcata compared to A. cunicularia, G. brasilianum and M. choliba.

Alterations in visual acuity and visual development in infants 1-24 months old either exposed to or infected by Zika virus during gestation, with and without microcephaly.

PURPOSE: To evaluate visual acuity and visual acuity development in children from the state of São Paulo, Brazil, who were exposed to the Zika virus (ZIKV) gestationally. METHODS: Children who had been exposed to ZIKV during gestation and age-matched control subjects received visual acuity and funduscopic examination. ZIKV exposure was confirmed by maternal quantitative polymerase chain reaction testing or serology assay. The ZIKV group was divided into two subgroups: exposed (ZE), with only the mother having confirmed ZIKV infection, and infected (ZI), with confirmed infection. Visual acuity development was compared with prior norms and quantified by measuring visual acuity correlation with age. RESULTS: A total of 110 children were included: 47 who had been exposed to ZIKV (ZE, 23; ZI, 24) and 63 controls. Abnormal visual acuity was found in 5 of 24 ZI children. Of the 4 children with microcephaly, only 2 had visual acuity loss (only 1 also had abnormal funduscopic findings). There was significant correlation between age and visual acuity in both the control group (R2 = 0.8; P < 0.0000) and the ZE subgroup (R2 = 0.6; P < 0.0000). However, visual acuity did not correlate with age in the ZI subgroup (R2 = 0.04; P = 0.38). Furthermore, the increment in octaves/month was much lower in the ZI subgroup. CONCLUSIONS: Our data indicate that visual acuity losses only occur in infants who suffered gestational-infection, not simply exposure. Lack of correlation between age and visual acuity in the ZI subgroup suggests a slowing of visual development even in the absence of microcephaly. This result may have broad implications for the deleterious effects of ZIKV on the central nervous system.

A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).

BACKGROUND: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject's species. RESULTS: A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus. CONCLUSION: We conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella.

Effects of trophic poisoning with methylmercury on the appetitive elements of the agonistic sequence in fighting-fish (betta splendens)

The aggressive display in Betta splendens is particularly prominent, and vital to its adaptation to the environment. Methylmercury is an organic variation of Hg that presents particularly pronounced neuro-behavioral effects. The present experiments aim to test the effect of acute and chronic poisoning with methylmercury on the display in Bettas. The animals were poisoned by trophic means in both experiments (16 ug/kg in acute poisoning; 16 ug/kg/day for chronic poisoning), and tested in agonistic pairs. The total frequency of the display was recorded, analyzing the topography of the agonistic response. The methylmercury seems to present a dose- and detoxification-dependent effect on these responses, with a more pronounced effect on motivity in acute poisoning and on emotionality in the chronic poisoning. It is possible that this effect could be mediated by alteration in the mono-amino-oxidase systems (AU)

El despliegue agresivo en la Betta splendens es especialmente prominente y es vital para su adaptación al medio ambiente. Metil-mercurio es una variación orgánica de Hg que presenta efectos neuro-conductuales especialmente pronunciados. Los experimentos actuales intentan poner aprueba el efecto de envenenamiento agudo y crónico con metil-mercurio sobre el despliegue en Bettas. Los animales fueron envenenados tróficamente en ambos experimentos (16 ug/kg eel envenenamiento agudo) y probados en parejas agonistas. Se registró la frecuencia total del despliegue, analizando la topografía de la respuesta agonista. El metil-mercurio parece presentar un efecto dependiente de la dosis y de la detoxificación sobre estas respuestas, con un efecto más pronunciado sobre la motilidad en el envenenamiento agudo y sobre la emotividad en el envenenamiento crónico. Posiblemente, este efecto podría mediarse por la alteración en los sistemas de mono-amino-oxidasa (AU)