Color vision pigment frequencies in wild tamarins (Saguinus spp.)

The adaptive importance of polymorphic color vision found in many New World and some prosimian primates has been discussed for many years. Polymorphism is probably maintained in part through a heterozygote advantage for trichromatic females, as such individuals are observed to have greater foraging success when selecting ripe fruits against a background of forest leaves. However, recent work also suggests there are some situations in which dichromatic individuals may have an advantage, and that variation in color vision among individuals possessing different alleles may also be significant. Alleles that confer a selective advantage to individuals are expected to occur at a higher frequency in populations than those that do not. Therefore, analyzing the frequencies of color vision alleles in wild populations can add to our understanding of the selective advantages of some color vision phenotypes over others. With this aim, we used molecular techniques to determine the frequencies of color vision alleles in 12 wild tamarin groups representing three species of the genus Saguinus. Our results show that allele frequencies are not equal, possibly reflecting different selective regimes operating on different color vision phenotypes.     

Vision screening at 8 and 18 months. Steering Committee of Oxford Region Child Development Project.

OBJECTIVE--To determine the effectiveness of an existing screening programme based in the community for ocular and vision defects in infants considered at increased risk of such defects. DESIGN--Children with ocular or vision defect by the age of 2 were ascertained by searching records. Those from populations at high risk were matched with their results from screening tests. The characteristics of the cases among this population were compared with those of the cases in the remainder of the population. Patterns of referral and age at referral were studied in both groups. SETTING--The study was conducted within Oxfordshire Health District. SUBJECTS--433 Children at high risk born in 1984 to mothers living in the health district at delivery and who either weighed less than 2000 g or weighed 2000 g and over and required admission to a special care nursery for longer than 24 hours. The low risk population (6254) were infants without these characteristics who were resident in the health district at the time of referral. INTERVENTIONS--Screening tests for vision or ocular defects already routinely used were applied by health visitors at 8 and 18 months to the children at high risk. MAIN OUTCOME MEASURE--Comparison of results of screening tests with vision and ocular defects detected by the age of 2. RESULTS--Screening tests in current use for vision loss and squint in this age group were insensitive and had a low positive predictive value when applied to a high risk population. Defects that were not apparent on direct inspection were unlikely to be detected by these tests. In the high risk group the relative risk of having a defect was 2.8 (95% confidence interval 1.8 to 4.5) but 85% of all cases detected by the age of 2 were in children at low risk. Referral patterns and age of referral differed in the two groups. CONCLUSIONS--Screening by health visitors of high risk populations contributes little to the detection of vision and ocular defects. This type of evaluation needs to be applied also to low risk populations, who have different referral patterns and contribute most of the cases.     

Signatures of selection and gene conversion associated with human color vision variation

Trichromatic color vision in humans results from the combination of red, green, and blue photopigment opsins. Although color vision genes have been the targets of active molecular and psychophysical research on color vision abnormalities, little is known about patterns of normal genetic variation in these genes among global human populations. The current study presents nucleotide sequence analyses and tests of neutrality for a 5.5-kb region of the X-linked long-wave "red" opsin gene (OPN1LW) in 236 individuals from ethnically diverse human populations. Our analysis of the recombination landscape across OPN1LW reveals an unusual haplotype structure associated with amino acid replacement variation in exon 3 that is consistent with gene conversion. Compared with the absence of OPN1LW amino acid replacement fixation since divergence from chimpanzee, the human population exhibits a significant excess of high-frequency OPN1LW replacements. Our results suggest that subtle changes in L-cone opsin wavelength absorption may have been adaptive during human evolution.     

Population differences in vision acuity: A review,with speculative notes on selection relaxation

Abstract

The contrast between the lower frequencies of vision defects reported among several different samples of hunting populations and the higher frequencies found repeatedly among populations with relatively long histories of agriculture and settled habitations points strongly to the relaxation of natural selection. Two rough estimates of the heritability of that conglomeration of genetic entities comprising “vision defects” are found in studies of MZ versus DZ twins and in studies of offspring of consanguineous parents versus those of unrelated parents. The hypothesis of relaxation of natural selection is plausible as man developed culture habitats more tolerant of persons with slight refractive aberrations. One can reasonably imagine that hereditary deficiencies accumulated sufficiently under such conditions to make possible quantitative estimates of differential population frequencies.     

Genomic aspects of age-related macular degeneration

Age-related macular degeneration (AMD) is a major late-onset posterior eye disease that causes central vision to deteriorate among elderly populations. The predominant lesion of AMD is the macula, at the interface between the outer retina and the inner choroid. Recent advances in genetics have revealed that inflammatory and angiogenic pathways play critical roles in the pathophysiology of AMD. Genome-wide association studies have identified ARMS2/HTRA1 and CFH as major AMD susceptibility genes. Genetic studies for AMD will contribute to the prevention of central vision loss, the development of new treatment, and the maintenance of quality of vision for productive aging.     

Defective colour vision and taste sensitivity to PTC in the Maharashtrian population

Three caste groups of the Maharashtrian population, namely Brahmin (N=58), Maratha (N=989) and Scheduled caste (N=1073), were studied for defective colour vision and for the ability to taste phenylthiocarbamide (PTC). Comparisons of defective colour vision and PTC taste sensitivity were made with other Maharashtrian populations studied previously by various authors. The incidence of defective colour vision is lowest among the Brahmins (3.44%) and highest in the Scheduled caste people (4.28%). Taste sensitivity to PTC is highest among the Brahmins (72.5%) with a value which is close to the Vednagar Brahmins (73.3%) who show the highest frequency of the ‘T’ gene recorded so far in Maharashtra.     

Evolution: convergent eye losses in fishy circumstances

Eye loss has occurred independently several times in Mexican cavefish. A new study shows that some aspects of vision can be restored by crossing cavefish from different populations, suggesting that changes at multiple loci contribute to eye loss.     

Morphological differentiation among populations of Sarotherodon melanotheron melanotheron Rüppell 1852 across the West African Lagoon systems (Benin,Cameroon, Nigeria,Togo)

Morphometric variation among populations of Sarotherodon melanotheron melanotheron across its natural range (Mahin, epe, Lekki, Apese, Kuramo, Lagos, Iyagbe, Ologe, Badagry, Yewa – Nigeria; Be Lagoon – Togo; Idenau – Cameroon, Aheme – Benin; Portonovo – Benin) were studied to assess the level of differentiation of one of the populations that is currently isolated from the rest, the Apese Lagoon population. S. m. melanotheron showed subtle differentiation from some of the other lagoon populations. However, the pattern of variation did not reflect the level of geographical barriers or geographical distance among populations. The characters that form the basis of the differentiation observed were mostly those related to feeding, vision and respiration.     

Beauty in the eyes of the beholders: colour vision is tuned to mate preference in the Trinidadian guppy (Poecilia reticulata)

A broad range of animals use visual signals to assess potential mates, and the theory of sensory exploitation suggests variation in visual systems drives mate preference variation due to sensory bias. Trinidadian guppies (Poecilia reticulata), a classic system for studies of the evolution of female mate choice, provide a unique opportunity to test this theory by looking for covariation in visual tuning, light environment and mate preferences. Female preference co‐evolves with male coloration, such that guppy females from ‘low‐predation’ environments have stronger preferences for males with more orange/red coloration than do females from ‘high‐predation’ environments. Here, we show that colour vision also varies across populations, with ‘low’‐predation guppies investing more of their colour vision to detect red/orange coloration. In independently colonized watersheds, guppies expressed higher levels of both LWS‐1 and LWS‐3 (the most abundant LWS opsins) in ‘low‐predation’ populations than ‘high‐predation’ populations at a time that corresponds to differences in cone cell abundance. We also observed that the frequency of a coding polymorphism differed between high‐ and low‐predation populations. Together, this shows that the variation underlying preference could be explained by simple changes in expression and coding of opsins, providing important candidate genes to investigate the genetic basis of female preference variation in this model system.     

Polymorphisms of red-green vision in some populations of Southern Africa

Some 5,000 schoolboys of the Khoikhoi, Negro, “Coloured,” and Malay populations were screened with the Ishihara plates, and those with defective red-green vision were diagnosed with an anomaloscope. The findings are presented in terms of the six protan and deutan mutant alleles, a few large population-samples (e.g., Nama and Zulu) being characterized by absence of the allele for protanopia. The overall frequencies of mutants range from less than 1% to over 4%. No correspondence was found between these data and linguistic affinities of eight Bantu-speaking groups, nor between the frequencies of colorblindness and previously estimated proportions of San genes in these eight populations; on the other hand, a north-south cline of increasing frequencies of mutants and of dichromacies among the Bantu-speakers was noted. The overall frequency of defective red-green vision among Cape Coloureds, 3.3%, is compatible with previously estimated racial composition of this population. The Malay sample is characterized by the highest frequency of protan mutants (2%), a 1:1 protan-deutan ratio, and an overall frequency of 4% of red-green defects. The study illustrates the potential value of anomaloscopic characterization of colorblindness in attempts to evaluate human evolutionary processes.     

Reduced opsin gene expression in a cave-dwelling fish

Regressive evolution of structures associated with vision in cave-dwelling organisms is the focus of intense research. Most work has focused on differences between extreme visual phenotypes: sighted, surface animals and their completely blind, cave-dwelling counterparts. We suggest that troglodytic systems, comprising multiple populations that vary along a gradient of visual function, may prove critical in understanding the mechanisms underlying initial regression in visual pathways. Gene expression assays of natural and laboratory-reared populations of the Atlantic molly (Poecilia mexicana) revealed reduced opsin expression in cave-dwelling populations compared with surface-dwelling conspecifics. Our results suggest that the reduction in opsin expression in cave-dwelling populations is not phenotypically plastic but reflects a hardwired system not rescued by exposure to light during retinal ontogeny. Changes in opsin gene expression may consequently represent a first evolutionary step in the regression of eyes in cave organisms.     

Incidence of red-green color blindness in the Basque population

The incidence of red-green colour vision defects was studied in a sample of 392 Basque students (174 males and 218 females), using the Ishihara test cards (1987). The frequency of red-green colour blindness was 4.02 percent in the males and 0.46 percent in the females. The colour blindness frequencies found among males are within the range of other Spanish samples. Nevertheless they are lower than the values reported in other European populations.     

Convergent evolution of the cavefish Astyanax (Characidae, Teleostei): genetic evidence from reduced eye-size and pigmentation

More than 20 populations of the cave-dwelling characid Astyanax occur within a restricted karst area in Mexico. The fish possess reduced eyes without lenses and visual cells. It is still an open question as to whether this condition evolved convergently after multiple entries of the surface ancestor into the different caves or whether a single cave ancestor, already characterized by reduced eyes, spread secondarily within them. In the crosses between specific populations, specimens appear that deviate considerably from those of the parents. They possess larger and better-developed eyes with histologically intact lenses and visual cells; they thus have the structural potential for vision. This indicates that in different cave populations, different mutations in the eye gene system have occurred. In cases where these non-functional rudimentary genes are recombined in hybrid specimens, gene expression may be restored. This is the result of separate evolution of several Astyanax cave populations.  © 2003 The Linnean Society of London, Biological Journal of the Linnean Society, 2003, 80 , 545−554.     

Color vision diversity and significance in primates inferred from genetic and field studies

Color provides a reliable cue for object detection and identification during various behaviors such as foraging, mate choice, predator avoidance and navigation. The total number of colors that a visual system can discriminate is largely dependent on the number of different spectral types of cone opsins present in the retina and the spectral separations among them. Thus, opsins provide an excellent model system to study evolutionary interconnections at the genetic, phenotypic and behavioral levels. Primates have evolved a unique ability for three-dimensional color vision (trichromacy) from the two-dimensional color vision (dichromacy) present in the majority of other mammals. This was accomplished via allelic differentiation (e.g. most New World monkeys) or gene duplication (e.g. Old World primates) of the middle to long-wavelength sensitive (M/LWS, or red–green) opsin gene. However, questions remain regarding the behavioral adaptations of primate trichromacy. Allelic differentiation of the M/LWS opsins results in extensive color vision variability in New World monkeys, where trichromats and dichromats are found in the same breeding population, enabling us to directly compare visual performances among different color vision phenotypes. Thus, New World monkeys can serve as an excellent model to understand and evaluate the adaptive significance of primate trichromacy in a behavioral context. I shall summarize recent findings on color vision evolution in primates and introduce our genetic and behavioral study of vision-behavior interrelationships in free-ranging sympatric capuchin and spider monkey populations in Costa Rica.     

Diversités technologiques et convergences économiques et culturelles au Mésolithique : une lecture détaillée à travers l’industrie de Creac’h Miné Vihan (Finistère, France)

The second phase of the Mesolithic in Western France and Brittany, principally the Teviecian (5500-5000 cal. BP), is supposed to be a period of degradation of the harmonious relations existing in the past between populations occupying this territory and or external contemporaneous human groups. The distinction between goods in ultramylonites/cataclasites and flint from the occupation of Creac’h Miné Vihan reveals that this period is characterized by the development of diverse methods of production, in relation with rocks structural, physical and quantitative facilities given by rocks exploited. This new vision seems to reorient our understanding of the impact of a restriction of relations between autochthonous and or allochthonous populations, on the transmission, modification and evolution of technological capacities.     

Different selective pressures shape the molecular evolution of color vision in chimpanzee and human populations

A population genetic analysis of the long-wavelength opsin (OPN1LW, "red") color vision gene in a global sample of 236 human nucleotide sequences had previously discovered nine amino acid replacement single nucleotide polymorphisms, which were found at high frequencies in both African and non-African populations and associated with an unusual haplotype diversity. Although this pattern of nucleotide diversity is consistent with balancing selection, it has been argued that a recombination "hot spot" or gene conversion within and between X-linked color vision genes alone may explain these patterns. The current analysis investigates a closely related primate with trichromatism to determine whether color vision gene amino acid polymorphism and signatures of adaptive evolution are characteristic of humans alone. Our population sample of 56 chimpanzee (Pan troglodytes) OPN1LW sequences shows three singleton amino acid polymorphisms and no unusual recombination or linkage disequilibrium patterns across the approximately 5.5-kb region analyzed. Our comparative population genetic approach shows that the patterns of OPN1LW variation in humans and chimpanzees are consistent with positive and purifying selection within the two lineages, respectively. Although the complex role of color vision has been greatly documented in primate evolution in general, it is surprising that trichromatism has followed very different selective trajectories even between humans and our closest relatives.     

Arm movements in monkeys: behavior and neurophysiology

Reaching to objects of interest is very common in the behavioral repertoire of primates. Monkeys possess keen binocular vision and make graceful and accurate arm movements. This review focuses on behavioral and neurophysiological aspects of eye-hand coordination in behaving monkeys, including neural coding mechanisms at the single cell level and in neuronal populations. The results of these studies have converged to a common behavioral-neurophysiological ground and provided a springboard for studies of brain mechanisms underlying motor cognitive function.     

Frequencies of protan and deutan alleles in some Israeli communities and a note on the selection-relaxation hypothesis

Anomaloscopic diagnoses of red-green vision defects are reported and compared to the Ishihara tests for six Israeli populations. The highest frequencies of defects, about 10%, were found in an Arab sample and among Ashkenazi Jews; the lowest — about 4% — among Yemenite Jews. Heterogeneity was also found regarding the relative frequencies of the different alleles; these differences are due primarily to alleles causing milder defects (particularly deuteranomaly) while frequencies of anopias are rather similar. It seems that the same phenomenon prevails for other population differences as well. These findings are discussed in relation to the hypothesis that present-day high rates of colorblindness in some populations may be explained by the relaxation of selection pressure against colorblindness.     

Beyond health care reform: immigrants and the future of medicine

Abstract

I first discuss the fundamental responsibilities of physicians and relate them to an increasingly fragmented medical system made even more complex by government regulations. I focus on trust as a vital component in the doctor–patient relationship, and note the difficult conditions surrounding the treatment of poor and marginal populations. Subsequently, I sketch the elements of a new vision to extend medical services to neglected populations. In that pursuit, the part played by physicians is only as important as the willingness of neighbourhoods and communities to support health as a public good.     

The photoreceptor populations in the retina of the greater horseshoe bat Rhinolophus ferrumequinum

Recently, we reported the existence of AII "rod" amacrine cells in the retina of the greater horseshoe bat Rhinolophus ferrumequinum (Jeon et al., 2007). In order to enhance our understanding of bat vision, in the present study, we report on a quantitative analysis of cone and rod photoreceptors. The average cone density was 9,535 cells/mm2, giving a total number of cones of 33,538 cells/retina. The average rod density was 368,891 cells/mm2, giving a total number of rods of 1,303,517 cells. On average, the total populations of rods were 97.49%, and cones were 2.51% of all the photoreceptors. Rod: cone ratios ranged from 33.85:1 centrally to 42.26:1 peripherally, with a mean ratio of 38.96:1. The average regularity index of the cone mosaic in bat retina was 3.04. The present results confirm the greater horseshoe bat retina to be strongly rod-dominated. The rod-dominated retina, with the existence of AII cells discovered in our previous study, strongly suggests that the greater horseshoe bat retina has a functional scotopic property of vision. However, the existence of cone cells also suggests that the bat retina has a functional photopic property of vision.