基于计算机视觉的罗非鱼适应环境的体色变化研究

多数鱼类的体色会受应激条件、环境背景、健康状况、生长发育和社会地位等因素的影响而发生改变。本文利用基于计算机视觉的体色量化技术研究正常情况和社会应激条件下罗非鱼对背景颜色的适应性,以及在背景颜色变化过程中体色变化的响应速度。实验结果表明：已适应白色背景的鱼放入黑色背景水体后,体色变化主要发生在前10s内,放入时和放入10s后的体色明度值差异极显著（**p＜0.01）;在白色背景下适应的鱼放入黑色背景下适应2h后其体色变得很黑,将其放入白色背景水体后体色在10s内可发生由深到浅的变化,放入时和放入10s后的体色明度值差异极显著（** p＜0.01）。在蓝色背景下适应的鱼放入黑色背景水体后,体色变化主要发生在前10s内,放入时和放入10s后的体色明度值差异显著（*p＜0.05）。在蓝色背景下适应的鱼放入黑色背景下适应2h后的体色变得很黑,再将其放入白色背景水体后体色由深变浅,放入时和10s后的体色明度值发生极显著变化（**p＜0.01）。处于社会应激条件下劣势地位的鱼体色会变黑,刚放入白色背景水体时的平均灰级达到12.7阶,放入60s、1800s后的体色和刚放入时没有显著差异。受社会应激影响轻微的鱼体色在1800s后适应了环境的颜色,明度值和没有受应激影响鱼的体色接近,而受伤或受社会应激影响较严重的鱼体色改变较小。鱼在高浓度非离子氨（UIA浓度为0.178 mg/L）的水中处理3h后,鱼的体色变得很黑,刚放入白色背景水体时平均灰级达到15.1阶,放入10s、120s后鱼的体色变化不大,放入180s后鱼的体色变浅,平均灰级达到9.3阶,与刚放入时的体色明度相比差异显著（*p＜0.05）。     

基于2b-RAD简化基因组测序的甜瓜遗传多样性分析

该研究利用2b-RAD(type IIB endonucleases restriction-site associated DNA)测序对28份厚皮甜瓜亲本材料的单核苷酸多态性(single nucleotide polymorphism,SNP)位点进行基因分型,分析其遗传多样性与亲缘关系,为甜瓜分子标记辅助育种提供科学依据。结果表明:(1)28份甜瓜种质SNPs数量有10318个,其发生转换与发生颠换的比值为2.15,两两种质间的遗传分化系数和遗传距离的平均值分别为0.88和2.22,说明这28份种质之间存在高度的遗传分化。(2)依据甜瓜的果皮颜色、果面网纹和果肉颜色3种性状,分别将以上28份种质分为4个群体(白皮群体、黄皮群体、青皮群体和绿皮群体)、3个群体(光皮群体、稀网群体和密网群体)以及3个群体(白肉群体、桔肉群体和绿肉群体)。(3)表型性状遗传分析结果显示,依据果皮颜色分类的各群体之间的遗传分化程度最高,其遗传分化系数在0.05~0.19之间,即均存在中度及以上程度的分化;光皮群体与密网群体之间存在中度遗传分化,但光皮群体与稀网群体之间以及稀网群体与密网群体之间均无显著分化;白肉群体与桔肉群体之间存在中度遗传分化,但白肉群体与绿肉群体之间以及桔肉群体与绿肉群体之间无明显分化。(4)分子系统进化树分析将28份甜瓜种质划分为三类,其中,第一类包含11份种质(主要为自主选育的纯合种质),第二类包含9份种质(大部分为从新疆引进或从新疆品种中选育出来的纯合种质),第三类包含8份种质(大部分为从日本引进或从日本品种中选育出来的纯合种质)。研究表明,依据甜瓜分子水平的聚类结果与地理来源具有一定关系,但其与育种者依据甜瓜的果皮颜色、果面网纹和果肉颜色对育种材料的分类结果不完全一致。     

Quantitative genetics of human skin color

Skin color has long been of interest to human geneticists and often used as an example of a human quantitative trait under relatively wellunderstood genetic control. Although the basic biology of melanin production and the method of measurement are areas in which skin color studies are fairly well advanced, compared to other quantitative traits, the evolutionary significance and mode of inheritance are still being debated. In view of the many steps involved in the production and dispersion of melanin and the large number of loci involved in coat color of laboratory animals, it is suggested that genetic control of human skin color must be fairly complex. Studies that have found evidence for relatively few loci effecting the differences between racial groups may either be using inappropriate methods, or they may be concentrating attention on only that portion of genetic variability that distinguishes between major world groups, particularly blacks and whites. Genetic analysis of intermediate groups and pedigree analysis of rare pigmentation conditions may yield more information on skin color genetics.     

Apportionment of global human genetic diversity based on craniometrics and skin color

A number of analyses of classical genetic markers and DNA polymorphisms have shown that the majority of human genetic diversity exists within local populations (approximately 85%), with much less among local populations (approximately 5%) or between major geographic regions or "races" (approximately 10%). Previous analysis of craniometric variation (Relethford [1994] Am J Phys Anthropol 95:53-62) found that between 11-14% of global diversity exists among geographic regions, with the remaining diversity existing within regions. The methods used in this earlier paper are extended to a hierarchical partitioning of genetic diversity in quantitative traits, allowing for assessment of diversity among regions, among local populations within regions, and within local populations. These methods are applied to global data on craniometric variation (57 traits) and skin color. Multivariate analysis of craniometric variation shows results similar to those obtained from genetic markers and DNA polymorphisms: roughly 13% of the total diversity is among regions, 6% among local populations within regions, and 81% within local populations. This distribution is concordant with neutral genetic markers. Skin color shows the opposite pattern, with 88% of total variation among regions, 3% among local populations within regions, and 9% within local populations, a pattern shaped by natural selection. The apportionment of genetic diversity in skin color is atypical, and cannot be used for purposes of classification. If racial groups are based on skin color, it appears unlikely that other genetic and quantitative traits will show the same patterns of variation.     

Diversification and convergence of aposematic phenotypes: truncated receptors and cellular arrangements mediate rapid evolution of coloration in harlequin poison frogs

Aposematic signals represent one of the classical systems to study evolution and, as such, they have received considerable empirical and theoretical investigation. Despite the extensive literature on aposematic coloration, much uncertainty remains about genetic changes responsible for the repeated evolution of similar signals in multiple lineages. Here, we study the diversification and convergence of coloration among lineages of aposematic harlequin poison frogs (Oophaga histrionica complex). Our results suggest that different background phenotypes, showing different color and/or luminance contrast, have evolved independently at least twice in this group. We suggest that cellular arrangements are behind the striking diversity of color and patterns in this group and propose that differences in dorsal background color may be related to either or both, the presence/absence of xanthophores and the dispersion of melanosomes. Our genetic analyses support a role for the melanocortin receptor MC1R in melanosome aggregation, and we show evidence that two different mutations (?433 and C432A) are responsible for the darker phenotypes that may display a more detectable, easier to learn, aposematic signal.     

Cutaneous inflammatory disorder in integrin alphaE (CD103)-deficient mice

The integrin alpha(E)beta(7) is thought to play an important role in the localization of mucosal, but not of cutaneous T lymphocytes. Thus, it was surprising that 89% of adult alpha(E)(-/-) mice on the 129/Sv x BALB/c background developed inflammatory skin lesions without an apparent infectious etiology. Skin inflammation correlated with alpha(E) deficiency in mice with a mixed 129/Sv x BALB/c background, but not in mice further backcrossed to BALB/c and housed in a second animal facility. These studies suggested that alpha(E) deficiency, in combination with other genetic and/or environmental factors, is involved in lesion development. The lesions were infiltrated by CD4(+) T cells and neutrophils, and associated with increased expression of inflammatory cytokines. Furthermore, skin inflammation resulted from transfer of unfractionated alpha(E)(-/-) splenocytes into scid/scid mice, but not from transfer of wild-type splenocytes, suggesting that the lesions resulted from immune dysregulation. We also studied the role of alpha(E)beta(7) in a murine model of hyperproliferative inflammatory skin disorders that is induced by transfer of minor histocompatibility-mismatched CD4(+)/CD45RB(high) T cells into scid/scid mice under specific environmental conditions. Under housing conditions that were permissive for lesion development, transfer of alpha(E)-deficient CD4(+)/CD45RB(high) T cells significantly exacerbated the cutaneous lesions as compared with lesions observed in mice reconstituted with wild-type donor cells. These experiments suggested that alpha(E)-expressing cells play an important role during the course of cutaneous inflammation. In addition, they suggest that alpha(E)beta(7) deficiency, in combination with other genetic or environmental factors, is a risk factor for inflammatory skin disease.     

Genome-Wide Association Studies of Quantitatively Measured Skin,Hair, and Eye Pigmentation in Four European Populations

Pigmentation of the skin, hair, and eyes varies both within and between human populations. Identifying the genes and alleles underlying this variation has been the goal of many candidate gene and several genome-wide association studies (GWAS). Most GWAS for pigmentary traits to date have been based on subjective phenotypes using categorical scales. But skin, hair, and eye pigmentation vary continuously. Here, we seek to characterize quantitative variation in these traits objectively and accurately and to determine their genetic basis. Objective and quantitative measures of skin, hair, and eye color were made using reflectance or digital spectroscopy in Europeans from Ireland, Poland, Italy, and Portugal. A GWAS was conducted for the three quantitative pigmentation phenotypes in 176 women across 313,763 SNP loci, and replication of the most significant associations was attempted in a sample of 294 European men and women from the same countries. We find that the pigmentation phenotypes are highly stratified along axes of European genetic differentiation. The country of sampling explains approximately 35% of the variation in skin pigmentation, 31% of the variation in hair pigmentation, and 40% of the variation in eye pigmentation. All three quantitative phenotypes are correlated with each other. In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. Interestingly, we also see that in each of these four populations, men are more lightly pigmented in the unexposed skin of the inner arm than women, a fact that is underappreciated and may vary across the world.     

The Color of My Skin: A Measure to Assess Children's Perceptions of Their Skin Color

The Color of My Skin is an instrument developed to assess children's internalized idea (abstraction) of the color of their skin; their satisfaction with that color; the desire, if any, to change the color of their skin; and their affect regarding their skin color. The assessment is part of a questionnaire utilized in a 3-year longitudinal study that examines psychosocial development, physical health, and behavioral adjustment of Puerto Rican children (N = 257) reared in the Greater Boston area. The results demonstrate that children's internalized representation of their skin color is a construct that can be reliably and validly measured. The children's ratings of their skin color were not associated with their sex, school grade, ethnic identity, the child's or the parent's nativity, or the racial or ethnic compositions of 3 social contexts: their neighborhood, their classmates, and their closest friends. Puerto Rican children did not show a preference for light-colored skin. Moreover, there were no significant differences in self-esteem based on the child's self-reported skin color. The lack of association between self-esteem and skin color was interpreted in light of a developmental tendency prevalent in early to middle childhood to place a positive value on different aspects of one's self. Whereas almost all children (96%) reported being happy or very happy with their color, 16% of the children would like to change their skin color if they could (51% to a lighter and 46% to a darker color).     

Rethingking human pigmentation.

Though pigmentation has been of interest to anthropologists for a long time, its inheritance, and particularly the reasons for the incomplete correlation of skin, hair and eye, is poorly understood. It is suggested that this is largely due to lack of genetically plausible hypotheses. Taking into account racial and individual variation in pigment traits, and knowledge of pigmentation in other mammals, a minimum set of genetic factors for pigmentation in man is suggested. These include: (1) a set of polygenes affecting skin color only; (2) one locus for depigmentation of the eye, not affecting skin or hair, (3) one pleiotropic gene for reduction of pigment at all sites, and (4) one or more loci with multiple alleles producing blondness or rufosity of the hair in symmetrical patterns over the body.     

Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders

Stem cells are crucial for the formation and maintenance of tissues and organs. The role of stem cells in the pathogenesis of mosaic skin disorders remains unclear. To study the molecular and cellular basis of mosaicism, we established a mouse model for the autosomal-dominant skin blistering disorder, epidermolytic hyperkeratosis (MIM 113800), which is caused by mutations in either keratin K1 or K10. This genetic model allows activation of a somatic K10 mutation in epidermal stem cells in a spatially and temporally controlled manner using an inducible Cre recombinase. Our results indicate that lack of selective pressure against certain mutations in epidermal stem cells leads to mosaic phenotypes. This finding has important implications for the development of new strategies for somatic gene therapy of dominant genodermatoses.     

Linkage and association scan for tanning ability in an isolated Mongolian population

Tanning ability is important, because it represents the ability of the skin to protect itself against ultraviolet (UV) radiation. Here, we sought to determine genetic regions associated with tanning ability. Skin pigmentation was measured at the outer forearm and buttock areas to represent facultative and constitutive skin color, respectively. In our study population consisting of isolated Mongolian subjects, with common histories of environmental UV exposure during their nomadic life, facultative skin color adjusted by constitutive skin color was used to indicate tanning ability. Through linkage analysis and family-based association tests of 345 Mongolian subjects, we identified 2 potential linkage regions regulating tanning ability on 5q35.3 and 12q13.2, having 6 and 7 significant single nucleotide polymorphisms (SNPs), respectively. Those significant SNPs were located in or adjacent to potential candidate genes related to tanning ability: GRM6, ATF1, WNT1, and SILV/Pmel17.     

A reversible color polyphenism in American peppered moth (Biston betularia cognataria) caterpillars

Insect body color polyphenisms enhance survival by producing crypsis in diverse backgrounds. While color polyphenisms are often indirectly induced by temperature, rearing density, or diet, insects can benefit from immediate crypsis if they evolve polyphenisms directly induced by exposure to the background color, hence immediately deriving protection from predation. Here, we examine such a directly induced color polyphenism in caterpillars of the geometrid peppered moth (Biston betularia). This larval color polyphenism is unrelated to the genetic polymorphism for melanic phenotypes in adult moths. B. betularia caterpillars are generalist feeders and develop body colors that closely match the brown or green twigs of their host plant. We expand on previous studies examining the proximal cues that stimulate color development. Under controlled rearing conditions, we manipulated diets and background reflectance, using both natural and artificial twigs, and show that visual experience has a much stronger effect than does diet in promoting precise color matching. Their induced body color was not a simple response to reflectance or light intensity but instead specifically matched the wavelength of light to which they were exposed. We also show that the potential to change color is retained until the final (sixth) larval instar. Given their broad host range, this directly induced color polyphenism likely provides the caterpillars with strong protection from bird predation.     

The nuclear receptor CAR (NR1I3) regulates serum triglyceride levels under conditions of metabolic stress

The nuclear receptor constitutive androstane receptor (CAR) (NR1I3) regulates hepatic genes involved in xenobiotic detoxification as well as genes involved in energy homeostasis. We provide data that extend the role of CAR to regulation of serum triglyceride levels under conditions of metabolic/nutritional stress. The typically high serum triglyceride levels of ob/ob mice were completely normalized when crossed onto a Car(-/-) (mice deficient for the Car gene) genetic background. Moreover, increases in serum triglycerides observed after a high-fat diet (HFD) regime were not observed in Car(-/-) animals. Conversely, pharmacological induction of CAR activity using the selective mouse CAR agonist TCPOBOP during HFD feeding resulted in a CAR-dependent increase in serum triglyceride levels. A major regulator of hepatic fatty oxidation is the nuclear receptor PPARalpha (NR1C1). The expression of peroxisome proliferator-activated receptor alpha (PPARalpha) target genes was inversely related to the activity of CAR. Consistent with these observations, Car(-/-) animals exhibited increased hepatic fatty acid oxidation. Treatment of mice with 1,4-bis[2-(3,5-dichloropyridyloxy)]benzene (TCPOBOP) significantly decreased expression of PPARalpha mRNA as well as Cyp4a14, CPT1alpha, and cytosolic Acyl-CoA thioesterase (CTE) in the liver. These data have implications in disease therapy such as for diabetes and nonalcoholic steatohepatitis (NASH).     

Apoptosis in skin pigment cells of the medaka, Oryzias latipes (Teleostei), during long-term chromatic adaptation: the role of sympathetic innervation

Many teleost fish can adapt their body color to a background color by changing the morphology and density of their skin pigment cells. Melanophore density in fish skin decreases during long-term adaptation to a white background. Although cell death, especially apoptosis, is thought to be involved in these morphological changes, there are no data clearly supporting this mechanism. Using medaka fish, Oryzias latipes, we observed that, on a white background, melanophore size was reduced first and this was followed by a decrease in melanophore density caused by gradual cell death. The process of cell death included loss of cell activity, cell fragmentation, phagocytosis of the fragments, and clearance via the epidermis. Apoptosis was assessed by the appearance of phosphatidylserine on the cell surface of melanophores that had lost motile activity, and DNA fragments involved in cell fragmentation were detected by the TUNEL (TDT-mediated dUTP-biotin nick end-labeling) assay. However, when chemically denervated fish were used, although melanophore size was reduced as expected, cell death was suppressed even on a white background. In skin tissue culture, apoptosis in melanophores was stimulated significantly by norepinephrine, but not by melanin-concentrating hormone. These results indicate that melanophore density decreases by apoptosis, and suggest that sympathetic innervation has an important role in the regulation of apoptosis in melanophores. In analogous fashion, leucophores showed a significant decrease in density with an increase of cell death on a black background. We suggest that apoptosis regulates the balance of pigment cells in the skin of medaka fish to adapt their body color to a particular background.     

Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria

This paper deals with enzymological, immunochemical and molecular genetic analyses of citrullinemia and argininosuccinic aciduria. Citrullinemia has been classified by Saheki et al. [J. inher. Metab. Dis. 8: 155-156, 1985] into three types from the properties of the deficient argininosuccinate synthetase (ASS) of the patients. Analysis of hepatic mRNA coding for ASS revealed certain characteristics in type II and III citrullinemic patients whose hepatic ASS protein was low. A newly developed enzyme-linked immunosorbent assay (ELISA) of argininosuccinate lyase (ASL) protein showed that 8 out of ten cases of argininosuccinic aciduria had no detectable ASL protein in the liver, erythrocytes, cultured skin fibroblasts or cultured amniocytes.     

Fathers' Influence on Their Children's Cognitive and Emotional Development: From Toddlers to Pre-K

The Color of My Skin is an instrument developed to assess children's internalized idea (abstraction) of the color of their skin; their satisfaction with that color; the desire, if any, to change the color of their skin; and their affect regarding their skin color. The assessment is part of a questionnaire utilized in a 3-year longitudinal study that examines psychosocial development, physical health, and behavioral adjustment of Puerto Rican children (N = 257) reared in the Greater Boston area. The results demonstrate that children's internalized representation of their skin color is a construct that can be reliably and validly measured. The children's ratings of their skin color were not associated with their sex, school grade, ethnic identity, the child's or the parent's nativity, or the racial or ethnic compositions of 3 social contexts: their neighborhood, their classmates, and their closest friends. Puerto Rican children did not show a preference for light-colored skin. Moreover, there were no significant differences in self-esteem based on the child's self-reported skin color. The lack of association between self-esteem and skin color was interpreted in light of a developmental tendency prevalent in early to middle childhood to place a positive value on different aspects of one's self. Whereas almost all children (96%) reported being happy or very happy with their color, 16% of the children would like to change their skin color if they could (51% to a lighter and 46% to a darker color).     

Genetic control of polyamine-dependent susceptibility to skin tumorigenesis

Overexpression of an ornithine decarboxylase (ODC) transgene greatly increases the susceptibility of mouse skin to carcinogen-induced tumor development. Like many phenotypes in transgenic models, this enhanced susceptibility phenotype is strongly influenced by genetic background. We have mapped tumor-modifier genes in intraspecific crosses between transgenic K6/ODC mice on a susceptible strain background (C57Bl/6J), a moderately resistant background (FVB), or a highly resistant background (C3H/HeJ). We identified several quantitative trait loci that influenced either tumor multiplicity or predisposition to the development of squamous cell carcinoma, but not both phenotypes. Because we did not use a tumor-promotion protocol to induce tumors, most of the quantitative trait loci mapped in this study are distinct from skin tumor-susceptibility loci identified previously. The use of a combined transgenic-standard strain approach to genetic analysis has resulted in detection of previously unknown genetic loci affecting skin tumor susceptibility.     

Quantitative genetic analysis of skin reflectance: a multivariate approach.

Skin color is a polygenically determined quantitative trait. Although it has been used extensively in studies of between-population variation, there have been relatively few studies of the inheritance of skin color. In this article we use measurements on 359 members of the Jirel population of eastern Nepal to assess the heritabilities and additive genetic correlations of three skin reflectance measures. Skin color was measured at the upper inner arm site at three wavelengths. A maximum likelihood approach was used to estimate sex and age effects on skin reflectance, heritabilities, and phenotypic variances at each wavelength and both additive genetic and environmental correlations between wavelengths. This technique incorporated information from 36 pedigrees with 2-25 members and 173 independent individuals. Likelihood ratio tests were used to assess the significance of specific variance/covariance components. The results indicate that skin reflectances are moderately heritable at all three wavelengths. The pairwise phenotypic correlations ranged from 0.76 to 0.88. The observed additive genetic correlations were not significantly different from 1.00, suggesting that the same loci influence variation at each wavelength. This evidence for relatively complete pleiotropy implies that measurements at multiple wavelengths yield little additional genetic information, although they may be useful for reducing measurement error. Based on estimates of the genetic and phenotypic covariance matrices, we determined that skin reflectance measurements are expected to provide only as much information for assessing local between-population genetic variation as a single two-allele polymorphic marker. Therefore microevolutionary studies based on skin color variation should be viewed with caution.