Molecular genetics of inherited variation in human color vision

The hypothesis that red-green "color blindness" is caused by alterations in the genes encoding red and green visual pigments has been tested and shown to be correct. Genomic DNA's from 25 males with various red-green color vision deficiencies were analyzed by Southern blot hybridization with the cloned red and green pigment genes as probes. The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes.     

Tandem array of human visual pigment genes at Xq28

Unequal crossing-over within a head-to-tail tandem array of the homologous red and green visual pigment genes has been proposed to explain the observed variation in green-pigment gene number among individuals and the prevalence of red-green fusion genes among color-blind subjects. This model was tested by probing the structure of the red and green pigment loci with long-range physical mapping techniques. The loci were found to constitute a gene array with an approximately 39-kilobase repeat length. The position of the red pigment gene at the 5' edge of the array explains its lack of variation in copy number. Restriction maps of the array in four individuals who differ in gene number are consistent with a head-to-tail configuration of the genes. These results provide physical evidence in support of the model and help to explain the high incidence of color blindness in the human population.     

Reversible, light-screening pigment of elasmobranch eyes: chemical identity with melanin

There lies directly beneath the tapetum lucidum, in the eyes of many elasmobranch fishes, a layer of darkly pigmented choroid cells which, in bright light, extend individual strands that aggregate to form a dark, compound curtain which shields the reflecting tapetal cells. This process is reversed in dim light or in darkness; the tapetum is exposed and visual sensitivity presumably Increased. The black choroid pigment has been isolated, analyzed, and shown to possess the properties of melanin.     

Ultraviolet visual pigment in a vertebrate: a tetrachromatic cone system in the dace

Microspectrophotometric measurements of optically isolated photoreceptors in the Japanese dace, a cyprinid fish, revealed four spectroscopically distinguishable cone pigments and one rod pigment. A visual pigment that absorbs in the near ultraviolet was found in small single cones.     

Activation of visual pigments by light and heat

Vision begins with photoisomerization of visual pigments. Thermal energy can complement photon energy to drive photoisomerization, but it also triggers spontaneous pigment activation as noise that interferes with light detection. For half a century, the mechanism underlying this dark noise has remained controversial. We report here a quantitative relation between a pigment's photoactivation energy and its peak-absorption wavelength, λ(max). Using this relation and assuming that pigment activations by light and heat go through the same ground-state isomerization energy barrier, we can predict the relative noise of diverse pigments with multi-vibrational-mode thermal statistics. The agreement between predictions and our measurements strongly suggests that pigment noise arises from canonical isomerization. The predicted high noise for pigments with λ(max) in the infrared presumably explains why they apparently do not exist in nature.     

Genetic abnormality of the visual pathways in a "white" tiger

"White"tigers show an inherited reduction of pigment, produced by an autosomal recessive gene. The brain of one of these tigers shows an abnormality of the visual pathways similar to abnormalities that are associated with albinism in many other mammals. There is a close relationship between the reduced pigment formation, the pathway abnormality, and strabismus.     

Molecular genetics of human blue cone monochromacy

Blue cone monochromacy is a rare X-linked disorder of color vision characterized by the absence of both red and green cone sensitivities. In 12 of 12 families carrying this trait, alterations are observed in the red and green visual pigment gene cluster. The alterations fall into two classes. One class arose from the wild type by a two-step pathway consisting of unequal homologous recombination and point mutation. The second class arose by nonhomologous deletion of genomic DNA adjacent to the red and green pigment gene cluster. These deletions define a 579-base pair region that is located 4 kilobases upstream of the red pigment gene and 43 kilobases upstream of the nearest green pigment gene; this 579-base pair region is essential for the activity of both pigment genes.     

Photoreversible pigment: occurrence in a blue-green alga

A new photoreversible pigment has been isolated from the blue-green alga Tolypothrix tenuis. This pigment bears certain resemblances to phytochrome, except that absorption maxima for the two forms are in the green and red portions of the spectrum instead of the red and far-red. The pigment may control diverse differentiative processes in blue-green algae.     

Melanopsin-containing retinal ganglion cells: architecture, projections, and intrinsic photosensitivity

The primary circadian pacemaker, in the suprachiasmatic nucleus (SCN) of the mammalian brain, is photoentrained by light signals from the eyes through the retinohypothalamic tract. Retinal rod and cone cells are not required for photoentrainment. Recent evidence suggests that the entraining photoreceptors are retinal ganglion cells (RGCs) that project to the SCN. The visual pigment for this photoreceptor may be melanopsin, an opsin-like protein whose coding messenger RNA is found in a subset of mammalian RGCs. By cloning rat melanopsin and generating specific antibodies, we show that melanopsin is present in cell bodies, dendrites, and proximal axonal segments of a subset of rat RGCs. In mice heterozygous for tau-lacZ targeted to the melanopsin gene locus, beta-galactosidase-positive RGC axons projected to the SCN and other brain nuclei involved in circadian photoentrainment or the pupillary light reflex. Rat RGCs that exhibited intrinsic photosensitivity invariably expressed melanopsin. Hence, melanopsin is most likely the visual pigment of phototransducing RGCs that set the circadian clock and initiate other non-image-forming visual functions.     

红曲霉固态发酵产红曲色素研究进展

红曲色素是天然色素,具有营养、无毒、多功能等优点。固态发酵是红曲色素生产的传统方法,与液体发酵相比具有独特的优点,一直受到研究者关注。对国内外近期关于红曲色素研究的报道进行了综述,对影响固态发酵产红曲色素的条件进行了归纳和分析,可为红曲色素固态发酵的推广提供借鉴。     

牵牛花色素色的超声提取及稳定性研究

介绍了牵牛花色素的超声提取法以及温度、酸碱度和金属离子对牵牛花色素稳定性的影响。确定牵牛花超声提取条件。为天然色素的提取和利用提供了理论依据。     

红叶黄栌红色素的提取方法及稳定性研究

研究了红叶黄栌(Cotinus coggygriavar.cinerea)叶片红色素的提取、理化性质及其稳定性,为开发利用这种天然色素资源提供科学依据。结果表明:用0.1%的HCl提取剂在31℃恒温条件下提取4 h,提取效果最好,红叶黄栌红色素属于花青素类色素,pH值对色素影响明显;此色素热稳定性较好;抗氧化能力较差,色素溶液加入H2O2后,迅速退色;金属离子Na+、K+、Ca2+、Zn2+、Fe2+、Cu2+、Mn2+对红叶黄栌红色素的色泽无不良影响,Fe3+能使色素出现异常混浊,呈现黄色。     

枸杞红色素的稳定性及其在食品中的应用研究

本文对枸杞红色素的稳定性进行了初步研究,研究发现枸杞红色素40℃以下比较稳定;还原剂(Na2SO3)对枸杞红色素稳定性影响不大,光照、高温、氧化剂(双氧水)能大大降低构杞红色素的稳定性;枸杞红色素在酸性、中性、弱碱性的环境中比较稳定,在强碱性环境中稳定性较差;Fe3+、Cu2+、Fe2+等金属离子对枸杞红色素稳定性影响较大,Ca2+、Na+等金属离子对枸杞红色素稳定性影响不大;枸杞红色素在酸奶和果汁中应用情况较好.     

茶绿色素的制取研究

本文对茶绿色素的性质(化学组成,光谱特性,不同光、热、pH和化学物质条件下的稳定性)及制取工艺流程进行了研究。结果表明:茶绿色素比较稳定,水溶性极好,呈黄绿色,含有多量茶多酚和丰富的氨基酸、维生素、微量元素,无毒副作用,是一种优良的天然营养保健食用色素。该产品原料丰富,成本低廉,提取率高达25%左右,颇具开发应用价值。     

Intracellular absorption difference spectrum of Limulus extra-ocular photolabile pigment

Microspectrophotometric measurements on single cell bodies located on the surface of the"lateral olfactory nerve" of Limulus polyphemus show they contain a photolabile pigment with a absorption-difference spectrum similar in shape to that of most other visual pigments and with a maximum absorption at 529 +/- 5 nanometers.     

Transducin activation by rhodopsin without a covalent bond to the 11-cis-retinal chromophore

Rhodopsin and the visual pigments are a distinct group within the family of G-protein-linked receptors in that they have a covalently bound ligand, the 11-cis-retinal chromophore, whereas all of the other receptors bind their agonists through noncovalent interactions. The retinal chromophore in rhodopsin is bound by means of a protonated Schiff base linkage to the epsilon-amino group of Lys-296. Two rhodopsin mutants have been constructed, K296G and K296A, in which the covalent linkage to the chromophore is removed. Both mutants form a pigment with an absorption spectrum close to that of the wild type when reconstituted with the Schiff base of an n-alkylamine and 11-cis-retinal. In addition, the pigment formed from K296G and the n-propylamine Schiff base of 11-cis-retinal was found to activate transducin in a light-dependent manner, with 30 to 40% of the specific activity measured for the wild-type protein. It appears that the covalent bond is not essential for binding of the chromophore or for catalytic activation of transducin.     

The molecular mechanism of thermal noise in rod photoreceptors

Spontaneous electrical signals in the retina's photoreceptors impose a limit on visual sensitivity. Their origin is attributed to a thermal, rather than photochemical, activation of the transduction cascade. Although the mechanism of such a process is under debate, the observation of a relationship between the maximum absorption wavelength (λ(max)) and the thermal activation kinetic constant (k) of different visual pigments (the Barlow correlation) indicates that the thermal and photochemical activations are related. Here we show that a quantum chemical model of the bovine rod pigment provides a molecular-level understanding of the Barlow correlation. The transition state mediating thermal activation has the same electronic structure as the photoreceptor excited state, thus creating a direct link between λ(max) and k. Such a link appears to be the manifestation of intrinsic chromophore features associated with the existence of a conical intersection between its ground and excited states.     

Cytochalasin B: effects on microfilaments and movement of melanin granules within melanocytes

The intracellular translocation of melanin granules within both epidermal and dermal melanocytes of Rana pipiens is influenced by cytochalasin B. Cytochalasin B prevents dispersion of pigment granules by melanocytestimulating hormone (MSH) and causes centripetal movement of pigment granules that have been dispersed by MSH. Microfilaments are abundant in the dendritic processes of epidermal melanocytes in which pigment granules have been dispersed by MSH. Microfilaments are dramatically reduced in number in the processes of melanocytes that have been lightened by cytochalasin B. These observations suggest that microfilaments mediate dispersion of pigment granules.     

Irreversible effects on visible light on the retina: role of vitamin A

Diffuse retinal irradiation by visible light produces in the rat the death of visual cells and pigment epithelium. Typically, cage illumination of 1500 lux from fluorescent light through a green filter leads to severe damage when continued for 40 hours. Vitamin A deficiency protects against this damage but experiments show that retinol released by light from rhodopsin is probably not the toxic agent. Protection against light damage depends on a long-range state of cell adaptation to light itself. The normal diurnal cycle of light and dark seems to be the essential factor in controlling visual cell viability and susceptibility.     

Blockade of visual excitation and adaptation in Limulus photoreceptor by GDP-beta-S

Light causes both depolarization and adaptation to light in Limulus ventral photoreceptors. Both visual excitation and adaptation were blocked by guanosine 5'-O-(2-thiodiphosphate) (GDP-beta-S), a metabolically stable analog of guanosine 5'-diphosphate (GDP). However, GDP-beta-S did not block the excitation caused by injection of inositol 1,4,5-trisphosphate into the cell. These results suggest a molecular cascade of visual excitation and adaptation: Light isomerizes the visual pigment rhodopsin, which in turn activates a guanyl nucleotide-binding protein. The binding protein then stimulates production of inositol 1,4,5-trisphosphate, which causes release of calcium from the endoplasmic reticulum.