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Molecular Biology and Evolution Feb 2024Local adaptation is critical in speciation and evolution, yet comprehensive studies on proximate and ultimate causes of local adaptation are generally scarce. Here, we...
Local adaptation is critical in speciation and evolution, yet comprehensive studies on proximate and ultimate causes of local adaptation are generally scarce. Here, we integrated field ecological experiments, genome sequencing, and genetic verification to demonstrate both driving forces and molecular mechanisms governing local adaptation of body coloration in a lizard from the Qinghai-Tibet Plateau. We found dark lizards from the cold meadow population had lower spectrum reflectance but higher melanin contents than light counterparts from the warm dune population. Additionally, the colorations of both dark and light lizards facilitated the camouflage and thermoregulation in their respective microhabitat simultaneously. More importantly, by genome resequencing analysis, we detected a novel mutation in Tyrp1 that underpinned this color adaptation. The allele frequencies at the site of SNP 459# in the gene of Tyrp1 are 22.22% G/C and 77.78% C/C in dark lizards and 100% G/G in light lizards. Model-predicted structure and catalytic activity showed that this mutation increased structure flexibility and catalytic activity in enzyme TYRP1, and thereby facilitated the generation of eumelanin in dark lizards. The function of the mutation in Tyrp1 was further verified by more melanin contents and darker coloration detected in the zebrafish injected with the genotype of Tyrp1 from dark lizards. Therefore, our study demonstrates that a novel mutation of a major melanin-generating gene underpins skin color variation co-selected by camouflage and thermoregulation in a lizard. The resulting strong selection may reinforce adaptive genetic divergence and enable the persistence of adjacent populations with distinct body coloration.
Topics: Animals; Melanins; Lizards; Zebrafish; Body Temperature Regulation; Skin Pigmentation; Color
PubMed: 38243850
DOI: 10.1093/molbev/msae009 -
Graefe's Archive For Clinical and... Jun 2024Visual function is a complex process in which external visual stimuli are interpreted. Patients with retinal diseases and prolonged follow-up times may experience... (Review)
Review
PURPOSE
Visual function is a complex process in which external visual stimuli are interpreted. Patients with retinal diseases and prolonged follow-up times may experience changes in their visual function that are not detected by the standard visual acuity measure, as they are a result of other alterations in visual function. With the advancement of different methods to evaluate visual function, additional measurements have become available, and further standardization suggests that some methods may be promising for use in clinical trials or routine clinical practice. The objectives of this article are to review these additional measurements and to provide guidance on their application.
METHODS
The Vision Academy's membership of international retinal disease experts reviewed the literature and developed consensus recommendations for the application of additional measures of visual function in routine clinical practice or clinical trials.
RESULTS
Measures such as low-luminance visual acuity, contrast sensitivity, retinal fixation and microperimetry, and reading performance are measures which can complement visual acuity measurements to provide an assessment of overall visual function, including impact on patients' quality of life. Measures such as dark adaptation, color vision testing, binocular vision testing, visual recognition testing, and shape discrimination require further optimization and validation before they can be implemented in everyday clinical practice.
CONCLUSION
Additional measurements of visual function may help identify patients who could benefit from earlier diagnosis, detection of disease progression, and therapeutic intervention. New and additional functional clinical trial endpoints are required to fully understand the early stages of macular disease, its progression, and the response to treatment.
Topics: Humans; Visual Acuity; Contrast Sensitivity; Macula Lutea; Retinal Diseases; Vision Tests; Dark Adaptation; Visual Field Tests; Quality of Life
PubMed: 37938378
DOI: 10.1007/s00417-023-06272-1 -
Translational Vision Science &... Apr 2024The purpose of this study was to determine and compare binocular summation (BiS) of conventional visual acuity (cVA) versus hyperacuity (hVA) for photopic and scotopic...
PURPOSE
The purpose of this study was to determine and compare binocular summation (BiS) of conventional visual acuity (cVA) versus hyperacuity (hVA) for photopic and scotopic luminance conditions as a potential biomarker to assess the outcome of interventions on binocular function.
METHODS
Sixteen young adults (age range [years] = 21-31; 8 women; cVA logMAR < 0.0) participated in this study. The Freiburg Visual Acuity Test (FrACT) was used for VA testing and retested on another day. Both cVA and hVA were determined for dark grey optotypes on light grey background. Participants underwent 40 minutes of dark adaptation prior to scotopic VA testing. Binocular and monocular VA testing was performed. The eye with better VA over the 2 days of testing was selected, the BiS was quantified (binocular VA - better monocular VA) and repeated measures ANOVAs were performed.
RESULTS
Binocular VA exceeded monocular VA for all luminance conditions, VA-types, and sessions. We report BiS estimates for photopic and scotopic cVA and hVA, (logMAR BiS ± SEM [decimal BiS]): photopic = -0.01 ± 0.01 [1.03] and -0.06 ± 0.03 [1.15]; and scotopic = -0.05 ± 0.01 [1.12] and -0.11 ± 0.04 [1.28], respectively). Improvement for binocular vision estimates ranged from 0.01 to 0.11 logMAR. A repeated-measures ANOVA (RM ANOVA) did not reveal significant effects of LUMINANCE or VA TYPE on BiS, albeit a trend for strongest BiS for scotopic hVA (15% vs. 28%, photopic versus scotopic, respectively) and weakest for photopic cVA (3% vs. 12%, photopic versus scotopic conditions, respectively).
CONCLUSIONS
Our results indicate that BiS of VA is relevant to scotopic and photopic hVA and cVA. It appears therefore a plausible candidate biomarker to assess the outcome of retinal therapies restoring rod or cone function on binocular vision.
TRANSLATIONAL RELEVANCE
Binocular summation of visual acuity might serve as a clinical biomarker to monitor therapy outcome on binocular rod and cone-mediated vision.
Topics: Young Adult; Humans; Female; Adult; Visual Acuity; Vision Tests; Vision, Binocular; Vision, Ocular; Biomarkers
PubMed: 38639931
DOI: 10.1167/tvst.13.4.25 -
PloS One 2024This study presents and validates the Italian adaptation of the Dark Tetrad at Work (DTW) scale, an instrument for assessing four socially aversive personality traits...
This study presents and validates the Italian adaptation of the Dark Tetrad at Work (DTW) scale, an instrument for assessing four socially aversive personality traits (narcissism, Machiavellianism, psychopathy and sadism) in the context of the workplace. A total of 300 Italian-speaking participants (50% female, M age = 32 years ± 9.2) and 253 English-speaking participants (38% female, M age = 39 years ± 12.1) were recruited via an online survey platform. The Italian-speaking sample was used to test the factorial structure, reliability and criterion-related validity of the Italian version of the DTW, whereas the English-speaking sample was used to test cross-language measurement invariance. Results from confirmatory factor analysis showed that the original four-factor model provided the best fit to the data. The Italian DTW scale demonstrated acceptable internal consistency, with reliability coefficients of ω = .77 for narcissism, ω = .80 for Machiavellianism, and ω = .81 for both psychopathy and sadism. Concurrent associations between the DTW scales and negative and positive workplace outcomes supported the criterion validity of the scale. Machiavellianism, psychopathy, and sadism positively correlated with counterproductive work behaviors and workplace bullying, and negatively with organizational citizenship behaviors and affective organizational commitment. In contrast, narcissism exhibited a unique pattern: It correlated positively with positive workplace behaviors and negatively with counterproductive behaviors toward the organization, but it was also found to be a significant predictor of workplace bullying. This finding may reflect multidimensional nature of narcissism, but a note of caution is warranted in interpreting this result, as all measurements relied on self-report instruments, introducing the possibility of socially desirable associations influencing the outcomes. Finally, the comparison with the English sample established configural, full metric and partial scale invariance, allowing for valid cross-language comparisons between Italian and English-speaking populations in the future. Preliminary Italian normative data were provided to offer a benchmark for the interpretation of DTW values. This study provides a reliable and valid instrument tailored to the Italian workforce, enhancing our understanding of dark personality traits within organizational contexts and providing organizations with an effective means to address and manage dark personality traits for a healthier workplace culture.
Topics: Humans; Female; Adult; Male; Reproducibility of Results; Antisocial Personality Disorder; Machiavellianism; Narcissism; Italy; Occupational Stress; Personality
PubMed: 38394098
DOI: 10.1371/journal.pone.0298880 -
Frontiers in Physiology 2023The circadian system in mammals ensures adaptation to the light-dark cycle on Earth and imposes 24-h rhythmicity on metabolic, physiological and behavioral processes.... (Review)
Review
The circadian system in mammals ensures adaptation to the light-dark cycle on Earth and imposes 24-h rhythmicity on metabolic, physiological and behavioral processes. The central circadian pacemaker is located in the brain and is entrained by environmental signals called Zeitgebers. From here, neural, humoral and systemic signals drive rhythms in peripheral clocks in nearly every mammalian tissue. During pregnancy, disruption of the complex interplay between the mother's rhythmic signals and the fetal developing circadian system can lead to long-term health consequences in the offspring. When an infant is born very preterm, it loses the temporal signals received from the mother prematurely and becomes totally dependent on 24/7 care in the Neonatal Intensive Care Unit (NICU), where day/night rhythmicity is usually blurred. In this literature review, we provide an overview of the fetal and neonatal development of the circadian system, and short-term consequences of disruption of this process as occurs in the NICU environment. Moreover, we provide a theoretical and molecular framework of how this disruption could lead to later-life disease. Finally, we discuss studies that aim to improve health outcomes after preterm birth by studying the effects of enhancing rhythmicity in light and noise exposure.
PubMed: 37719464
DOI: 10.3389/fphys.2023.1243162 -
BioRxiv : the Preprint Server For... Sep 2023Changes in daylight amount (photoperiod) drive pronounced alterations in physiology and behaviour. Adaptive responses to seasonal photoperiods are vital to all organisms...
Changes in daylight amount (photoperiod) drive pronounced alterations in physiology and behaviour. Adaptive responses to seasonal photoperiods are vital to all organisms - dysregulation is associated with disease, from affective disorders to metabolic syndromes. Circadian rhythm circuitry has been implicated yet little is known about the precise neural and cellular substrates that underlie phase synchronization to photoperiod change. Here we present a previously unknown brain circuit and novel system of axon branch-specific and reversible neurotransmitter deployment that together prove critical for behavioural and sleep adaptation to photoperiod change. We found that the recently defined neuron type called mr located in the mouse brainstem Median Raphe Nucleus (MRN) segregates serotonin versus VGLUT3 (here proxy for the neurotransmitter glutamate) to different axonal branches innervating specific brain regions involved in circadian rhythm and sleep/wake timing. We found that whether measured during the light or dark phase of the day this branch-specific neurotransmitter deployment in mr neurons was indistinguishable; however, it strikingly reorganizes on photoperiod change. Specifically, axonal boutons but not cell soma show a shift in neurochemical phenotype upon change away from equinox light/dark conditions that reverses upon return to equinox. When we genetically disabled the deployment of VGLUT3 in mr neurons, we found that sleep/wake periods and voluntary activity failed to synchronize to the new photoperiod or was significantly delayed. Combining intersectional rabies virus tracing and projection-specific neuronal silencing , we delineated a Preoptic Area-to-mr connection responsible for decoding the photoperiodic inputs, driving the neurochemical shift and promoting behavioural synchronization. Our results reveal a previously unrecognized brain circuit along with a novel form of periodic, branch-specific neurotransmitter deployment that together regulate organismal adaptation to photoperiod changes.
PubMed: 37745319
DOI: 10.1101/2023.09.11.557218 -
American Journal of Ophthalmology Oct 2023This study aimed to clarify the effect of 1-year oral treatment with 9-cis-β-carotene-rich alga Dunaliella bardawil (Dunaliella supplementation) using full-field...
PURPOSE
This study aimed to clarify the effect of 1-year oral treatment with 9-cis-β-carotene-rich alga Dunaliella bardawil (Dunaliella supplementation) using full-field electroretinography (ERG) in patients with RDH5-related fundus albipunctatus (FAP).
DESIGN
Prospective, interventional case series.
PARTICIPANTS
The study included 12 patients (23 eyes) with RDH5-related FAP.
METHODS
Twelve patients (23 eyes) with RDH5-related FAP received Dunaliella supplementation (total daily dose of β-carotene was 74.0 mg, comprising 28.4 mg 9-cis-β-carotene and 45.6 mg all-trans-β-carotene at a ratio of 1:1.6) for 1 year and underwent ophthalmic examinations, including full-field ERG at baseline, 3 months, and 1 year after the initial treatment.
MAIN OUTCOME MEASURES
The main outcome was changes in the amplitudes of responses of full-field ERG before and after treatment. A linear mixed-effects model was used to evaluate the adjusted mean difference between the amplitude of each response pretreatment and posttreatment.
RESULTS
Prolonged dark adaptation (DA) responses at 3 months revealed a significant impairment in the b-wave of DA 0.01 (adjusted mean difference, -34.7, 95% CI, -66.8 to -2.73, P = .041) and a-wave of DA 3.0 (-29.0, 95% CI, -50.6 to -7.41, P = .013) and DA 10.0 (-40.4, 95% CI, -67.8 to -13.0, P = .007), which were also observed at 1 year. Additionally, prolonged DA and light adaptation (LA) responses revealed statistically significant impairment at 1 year in the b-wave of DA 3.0 (-43.8, 95% CI, -82.9 to -4.78, P = .035), DA 10.0 (-59.7, 95% CI, -101.8 to -17.61, P = .009), LA 3.0 (-7.31, 95% CI, -13.6 to -1.04, P = .029), and LA 3.0 flicker (-7.53, 95% CI, -12.7 to -2.34, P = .007).
CONCLUSIONS
Our study results suggest that Dunaliella supplementation comprising low levels of 9-cis-β-carotene compared with those reported in a previous study (1:1 ratio) adversely affects ERG amplitudes in patients with RDH5-related FAP.
Topics: Humans; beta Carotene; Prospective Studies; Capsules; Electroretinography; Retinal Dystrophies
PubMed: 37343743
DOI: 10.1016/j.ajo.2023.06.013 -
Journal of Patient-reported Outcomes Jul 2023Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) are rare inherited retinal degenerative disorders. The associated visual impairments have significant...
Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.
BACKGROUND
Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) are rare inherited retinal degenerative disorders. The associated visual impairments have significant impacts on patients' vision-dependent activities of daily living (ADL), mobility, and distal health-related quality of life (HRQoL). To adequately capture patient and caregiver perspectives in clinical trials, patient and observer-reported outcome instruments must demonstrate sufficient evidence of content validity in the target population. This study aimed to explore the patient experience of RP/LCA and assess the content validity of the Visual Symptom and Impact Outcomes PRO (ViSIO-PRO) and ObsRO (ViSIO-ObsRO) instruments in RP/LCA.
METHODS
A total of 66 qualitative, combined concept elicitation (CE) and cognitive debriefing (CD) interviews were conducted (33 adults, 10 adolescents, 8 children and 15 caregivers of children) in the US, France, Germany, and Canada. Patients had a clinical and genetic diagnosis of RP/LCA from a range of genotypes. CE results were used to further inform the development of a conceptual model and CD interviews assessed the relevance and understanding of the 44-item ViSIO-PRO and 26-item ViSIO-ObsRO instruments. Interviews were conducted across two iterative rounds to allow item modifications.
RESULTS
Findings were consistent across RP/LCA genotypes. Night blindness, reduced peripheral vision, vision in very bright lighting and light/dark adaptation were the most frequently reported visual function symptoms impacting vision-dependent ADL and mobility. Impacts on distal HRQoL domains were also reported. The ViSIO-PRO and ObsRO items were well understood by participants and relevant across genotypes. The instructions, 7-day recall period and response scales were well understood and endorsed. Participant and expert clinician feedback supported modifications to item wording, the addition of six new ViSIO-PRO items and one new ViSIO-ObsRO item, and the removal of one ViSIO-PRO item due to lack of relevance.
CONCLUSIONS
Findings support the content validity of the ViSIO-PRO and ViSIO-ObsRO instruments for use across RP/LCA genotypes. Ongoing research to evaluate the psychometric validity of the instruments will support future use of the instruments as efficacy endpoints in clinical trials and in general clinical practice to track disease severity and impact of disease on functioning.
Topics: Adult; Child; Adolescent; Humans; Activities of Daily Living; Leber Congenital Amaurosis; Quality of Life; Retinitis Pigmentosa; Genotype
PubMed: 37466759
DOI: 10.1186/s41687-023-00610-x -
Investigative Ophthalmology & Visual... Oct 2023To assess the progression in functional and structural measures over a five-year period in patients with retinal dystrophy caused by RLBP1 gene mutation.
PURPOSE
To assess the progression in functional and structural measures over a five-year period in patients with retinal dystrophy caused by RLBP1 gene mutation.
METHODS
This prospective, noninterventional study included patients with biallelic RLBP1 mutations from two clinical sites in Sweden and Canada. Key assessments included ocular examinations, visual functional measures (best-corrected visual acuity [BCVA], contrast sensitivity [CS], dark-adaptation [DA] kinetics up to six hours for two wavelengths [450 and 632 nm], Humphrey visual fields [HVF], full-field flicker electroretinograms), and structural ocular assessments.
RESULTS
Of the 45 patients enrolled, 38 completed the full five years of follow-up. At baseline, patients had BCVA ranging from -0.2 to 1.3 logMAR, poor CS, HVF defects, and prominent thinning in central foveal thickness. All patients had extremely prolonged DA rod recovery of approximately six hours at both wavelengths. The test-retest repeatability was high across all anatomic and functional endpoints. Cross-sectionally, poorer VA was associated with older age (right eye, correlation coefficient [CC]: 0.606; left eye, CC: -0.578; P < 0.001) and HVF MD values decreased with age (right eye, CC: -0.672, left eye, CC: -0.654; P < 0.001). However, no major changes in functional or structural measures were noted longitudinally over the five-year period.
CONCLUSIONS
This natural history study, which is the first study to monitor patients with RLBP1 RD for five years, showed that severely delayed DA sensitivity recovery, a characteristic feature of this disease, was observed in all patients across all age groups (17-69 years), making it a potentially suitable efficacy assessment for gene therapy treatment in this patient population.
Topics: Humans; Adolescent; Young Adult; Adult; Middle Aged; Aged; Prospective Studies; Visual Fields; Visual Acuity; Retinitis Pigmentosa; Retinal Dystrophies
PubMed: 37883093
DOI: 10.1167/iovs.64.13.42 -
IScience Sep 2023Advanced sequencing technologies have expedited resolution of higher-level arthropod relationships. Yet, dark branches persist, principally among groups occurring in...
Advanced sequencing technologies have expedited resolution of higher-level arthropod relationships. Yet, dark branches persist, principally among groups occurring in cryptic habitats. Among chelicerates, Solifugae ("camel spiders") is the last order lacking a higher-level phylogeny and have thus been historically characterized as "neglected [arachnid] cousins". Though renowned for aggression, remarkable running speed, and xeric adaptation, inferring solifuge relationships has been hindered by inaccessibility of diagnostic morphological characters, whereas molecular investigations have been limited to one of 12 recognized families. Our phylogenomic dataset via capture of ultraconserved elements sampling all extant families recovered a well-resolved phylogeny, with two distinct groups of New World taxa nested within a broader Paleotropical radiation. Divergence times using fossil calibrations inferred that Solifugae radiated by the Permian, and most families diverged prior to the Paleogene-Cretaceous extinction, likely driven by continental breakup. We establish Boreosolifugae uniting five Laurasian families, and Australosolifugae uniting seven Gondwanan families using morphological and biogeographic signal.
PubMed: 37694155
DOI: 10.1016/j.isci.2023.107684