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Distribution of an allele associated with blond hair color across northern island melanesia 总被引:1,自引:0,他引:1 下载免费PDF全文
Heather L. Norton Elena A. Correa George Koki Jonathan S. Friedlaender 《American journal of physical anthropology》2014,153(4):653-662
Pigmentation of the skin, hair, and eyes is a complex trait controlled by multiple genetic loci. Recently a non‐synonymous mutation in the pigmentation candidate gene TYRP1 was shown to be significantly associated with a blond‐hair phenotype in populations from the Solomon Islands. The distribution of this mutation in the islands of Northern Island Melanesia, where the blondism phenotype is also prevalent, was unknown. Here, we present data describing the distribution of this allele in 550 individuals sampled from across this region, and test for associations between genotype at this locus and quantitatively measured skin and hair pigmentation phenotype. We report that the frequency of the 93C allele is notably lower than observed in the Solomons (0.12 vs. 0.26). The allele exhibits significant geographic heterogeneity across the islands sampled (χ2 = 108.4, P < 0.0001). It is observed at its highest frequencies on the islands of New Ireland and New Hanover, while being almost completely absent from the large island of New Britain. Using linear regression with age, sex, and island as covariates we report that, as in the Solomons, the 93C allele is significantly associated with a decrease in hair pigmentation but not skin pigmentation. We discuss the distribution of the 93C allele across the Southwest Pacific in light of its possible place of origin and dispersal. Am J Phys Anthropol 153:653–662, 2014. © 2014 Wiley Periodicals, Inc. 相似文献
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A. Khalique Munir H. Shah M. Jaffar N. Shaheen S. Manzoor Saadia R. Tariq 《人类与生态风险评估》2005,11(5):1065-1075
Scalp hair samples of traffic control personnel (n = 71, ages between 25 to 45 years) were analyzed for 11 selected metals by using an Inductively Coupled Argon Plasma Atomic Emission (ICP-AE) technique using nitric acid–perchloric acid based wet digestion method. The observed order of mean concentrations (μ g/g, dry weight) of the metals, in washed hair samples, was: Ca > Mg > Zn > Fe > Pb > Cu > Ni > Mn > Cr > Cd > Co, with corresponding metal levels at 1042.2, 182.4, 169.7, 13.6, 12.4, 11.1, 2.7, 1.9, 1.9, 0.8, and 0.7 μ g/g, respectively. Most of the unwashed samples exhibited 10–15% higher metal levels compared with those in washed samples. A positive metal-to-metal correlation (p < 0.01) was observed for the metal pairs: Ca-Mg (r = 0.737), Pb-Cr (r = 0.441), and Cu-Zn (0.385). Principal Component Analysis (PCA) extracted 6 factors as metals origin using varimax normalized rotation commutatively representing more than 76% of the total variance. Cluster Analysis (CA) showed five strong clusters of selected metals in the hair of the subjects: Age-Exposure, Ca-Mg, Cd-Fe-Mn, Pb-Cr, and Cu-Zn. The results of the current study were compared with those for two other occupationally exposed groups, metal arc welders and autodrivers, using published literature values. The traffic controllers in our study generally, with the exception of Cu, exhibited lower levels of metals in hair samples than did autodrivers and arc welders. 相似文献
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Rosenblum EB Hoekstra HE Nachman MW 《Evolution; international journal of organic evolution》2004,58(8):1794-1808
The wealth of information on the genetics of pigmentation and the clear fitness consequences of many pigmentation phenotypes provide an opportunity to study the molecular basis of an ecologically important trait. The melanocortin-1 receptor (Mc1r) is responsible for intraspecific color variation in mammals and birds. Here, we study the molecular evolution of Mc1r and investigate its role in adaptive intraspecific color differences in reptiles. We sequenced the complete Mc1r locus in seven phylogenetically diverse squamate species with melanic or blanched forms associated with different colored substrates or thermal environments. We found that patterns of amino acid substitution across different regions of the receptor are similar to the patterns seen in mammals, suggesting comparable levels of constraint and probably a conserved function for Mc1r in mammals and reptiles. We also found high levels of silent-site heterozygosity in all species, consistent with a high mutation rate or large long-term effective population size. Mc1r polymorphisms were strongly associated with color differences in Holbrookia maculata and Aspidoscelis inornata. In A. inornata, several observations suggest that Mc1r mutations may contribute to differences in color: (1) a strong association is observed between one Mc1r amino acid substitution and dorsal color; (2) no significant population structure was detected among individuals from these populations at the mitochondrial ND4 gene; (3) the distribution of allele frequencies at Mc1r deviates from neutral expectations; and (4) patterns of linkage disequilibrium at Mc1r are consistent with recent selection. This study provides comparative data on a nuclear gene in reptiles and highlights the utility of a candidate-gene approach for understanding the evolution of genes involved in vertebrate adaptation. 相似文献
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R G Harvey 《American journal of physical anthropology》1985,66(4):407-416
An EEL reflectance spectrophotometer was used to measure the skin color of the inner upper arm and the forearm of 913 Karkar Islanders (Madang District) and 684 Lufa villagers (Eastern Highlands District). The samples were subdivided to study sex, age, and population variation against a background of ecological observations, including sunlight exposure, clothing, and erythemally effective wavelengths of ultraviolet light (Robertson, unpublished Ph.D. thesis, 1974). Population differences in sex and age variation in upper arm skin color may largely be attributable to the effects of culturally associated clothing differences. Not only do the Lufa villagers wear substantially less clothing than the Karkars, but also their arms are exposed more frequently to ultraviolet light during heavy manual work in unshaded gardens. For the melanin content of the forearm skin there are similar patterns of age variation in both populations; however, the populations differ in mean percentage of reflectance throughout most of the age span. These between-population differences are interpreted as a consequence of greater average daily exposure to sunlight and the higher intensity of ultraviolet light in the highland environment. On the forearm the percentage of reflectance at 685 nm decreases more rapidly with age in the prepubertal and adult age groups, a result attributed to endocrine changes superimposed on cumulative changes in the melanin pigmentary mechanism. 相似文献
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Antonella Bertazzo Carlo Costa Monica Biasiolo Graziella Allegri Girolamo Cirrincione Giuseppe Presti 《Biological trace element research》1996,52(1):37-53
The Cu and Zn levels of both 607 men (1–85 y old) and 649 women (1–92 y old) were determined by atomic absorption spectrometry.
Sex does not influence Cu (14.89±0.89 μg/g and 15.26±0.79 μg/g hair for males and females, respectively) and Zn contents (200.97±9.68
μg/g for men and 209.81±9.49 μg/g hair for women). Age influences Cu and Zn concentrations, but only significantly in females:
Cu levels decrease over 60 y of age; whereas Zn levels increase significantly from age groups 2–5 to 20–40 years. Hair color
influences Cu concentrations in both males and females. In males, white hair containes less Cu than black hair; in females,
white hair's Cu levels are significantly lower than those of dark blond, red, light brown, and brown hair. There are no significant
differences in Zn concentrations with respect to different hair colors, in either males or females. 相似文献
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毛囊隆突(bulge)是毛囊干细胞特定的微环境,它维持并调节干细胞的特性,使干细胞在静息态、自我更新和分化上保持平衡。现重点从毛囊隆突的物理结构上来简要揭示微环境对干细胞的调控。 相似文献
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Hair zinc and copper in chronic alcoholics 总被引:1,自引:0,他引:1
González-Reimers E Alemán-Valls MR Barroso-Guerrero F Santolaria-Fernández F López-Lirola A García-Valdecasas CE Jarque-López A Rodríguez-Gaspar M 《Biological trace element research》2002,85(3):269-275
Chronic alcoholics frequently show associated malnutrition. Both ethanol and malnutrition exert profound changes on zinc and
copper metabolism. In this study, we found higher hair zinc and copper values in 43 male alcoholics than in 39 controls. Hair
copper was significantly related to the amount of ethanol consumed, whereas hair zinc was higher in consumers of distilled
beverages. No relation was observed between hair zinc and copper and nutritional status, kind of diet consumed, style of life,
and liver cirrhosis. Consequently, hair zinc and copper levels are related only with alcohol intake. 相似文献
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c-Abl作为非受体酪氨酸激酶家族的成员,参与调节多个组织器官的发育过程,如神经、血管及骨骼等。c-Abl的异常激活也往往导致神经退行性疾病或肿瘤的发生。到目前为止,c-Abl在皮肤和毛发器官中的研究非常少。本研究首先分析了c-Abl基因在皮肤和毛囊中的动态表达情况,发现在毛囊上皮有丰富的表达,然后利用表皮特异性工具小鼠K14-Cre将c-Abl基因在表皮敲除,发现毛囊由静息期向生长期的转换略有加快。小鼠脱毛实验发现,当所有毛囊都从头开始再生时,突变鼠的毛囊起始比对照小鼠更快。这些结果均表明,在表皮敲除c-Abl基因能够导致毛发循环和毛囊再生的加快。进一步的研究发现,以上表型可能是c-Abl通过调节BMP信号通路造成的。我们的工作首次研究了c-Abl基因在皮肤毛囊中的动态表达,揭示了c-Abl通过BMP信号通路调节毛囊再生的机制。 相似文献
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miRNA在调控皮肤和毛囊发育中的作用 总被引:3,自引:0,他引:3
表皮发生和毛囊的周期性再生涉及一系列基因的激活和沉默。近年来的研究表明, miRNA的表达谱在表皮和毛囊组织中存在组织特异性, 在毛囊周期性发育中存在阶段特异性。大量miRNA参与表皮和毛囊的发生, 色素的沉着以及毛囊的周期性发育过程, 不同类型细胞中的miRNA通过与信号通路和调控因子相互作用形成了一个全方位、多层次的网络调控系统。文章综述了miRNA调控表皮内稳态和毛囊周期性发育的一些研究 进展, 旨在丰富miRNA参与的基因调控网路的研究, 进而为人工调控miRNA进行疾病治疗和分子育种提供 帮助。 相似文献
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Hair and scalp mycobiota of 1389 clinically normal children aged 6–12 years attending 12 schools in the Nablus District, Palestinian
Authority, was assessed on three occasions over 8-month period (October 1998–May 1999) using the hair brush technique. One
hundred and one fungal species belonging to 33 genera were recovered: 6 dermatophytes, 16 dermatophyte-like keratinophilic
fungi, and 79 other keratinophilic fungal species. Species varied considerably in their frequency of occurrence and abundance
based on their relative importance values (RIVs). The most frequent and abundant species were: Cladosporium cladosporioides, Cl. herbarum, Penicillium chrysogenum and Aspergillus flavus. Microsporum canis, Aphanoascus fulvescence and Chrysosporum sulfureum were the most frequent and abundant species of all dermatophytes and dermatophyte-like keratinophilic fungi recovered. The
most frequent and abundant dermatophytes in different communities were M. canis in rural (RIV 0.87) and urban children (0.45), and Trichophyton violaceum (1.41) in refugee camp children. Chrysosporium species were the most frequent and abundant dermatophyte-like keratinophilic fungus in children from all localities followed
by Aphanoascus fulvescence. Comparable results on the frequency and abundance of human hair and scalp mycobiota component fungi were obtained based on
age group and sex of children. Higher number of species was recovered in spring months (73 species) than in autumn (57) and
winter (44) months. Similar occurrence pattern was also noted for dermatophyte-like keratinophilic species and dermatophytes.
Higher percentages of children with moderate (11–50) and heavy (≤ 50) spore loads (7.54 and 0.73, respectively) were found
in urban school children community than in rural and refugee camp school children (4.7 and 0.1, respectively). Also significantly
higher light (1–10) spore load percentages were found in rural (63.67) and refugee camp (62.9) than in urban children (52.6).
Of all localities, school children with light spore load comprised the highest percentage of the children examined (37.4),
followed by moderate (6.13), and heavy (0.41) spore load categories. However, children with undetected spore load comprised
36.05% of all children. Spore load distribution did not show clear seasonal variations in the study period. Higher percentages
of moderate and heavy spore loads were found in male children (8.72 and 0.69, respectively) than in female children (3.4 and
0.1, respectively). However, higher percentages of undetected (38.3) or light spore loads (58.4) were found in females than
in males (34.04 and 56.53, respectively).
This revised version was published online in June 2006 with corrections to the Cover Date. 相似文献
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Joseph N. Nissimov Asit Baran Das Chaudhuri 《Biological reviews of the Cambridge Philosophical Society》2014,89(3):723-766
Although hair forms (straight, curly, wavy, etc.) are present in apparently infinite variations, each fibre can be reduced to a finite sequence of tandem segments of just three types: straight, bent/curly, or twisted. Hair forms can thus be regarded as resulting from genetic pathways that induce, reverse or modulate these basic curvature modes. However, physical interconversions between twists and curls demonstrate that strict one‐to‐one correspondences between them and their genetic causes do not exist. Current hair‐curvature theories do not distinguish between bending and twisting mechanisms. We here introduce a multiple papillary centres (MPC) model which is particularly suitable to explain twisting. The model combines previously known features of hair cross‐sectional morphology with partially/completely separated dermal papillae within single follicles, and requires such papillae to induce differential growth rates of hair cortical material in their immediate neighbourhoods. The MPC model can further help to explain other, poorly understood, aspects of hair growth and morphology. Separate bending and twisting mechanisms would be preferentially affected at the major or minor ellipsoidal sides of fibres, respectively, and together they exhaust the possibilities for influencing hair‐form phenotypes. As such they suggest dialectic for hair‐curvature development. We define a natural‐dialectic (ND) which could take advantage of speculative aspects of dialectic, but would verify its input data and results by experimental methods. We use this as a top‐down approach to first define routes by which hair bending or twisting may be brought about and then review evidence in support of such routes. In particular we consider the wingless (Wnt) and mammalian target of rapamycin (mTOR) pathways as paradigm pathways for molecular hair bending and twisting mechanisms, respectively. In addition to the Wnt canonical pathway, the Wnt/Ca2+ and planar cell polarity (PCP) pathways, and others, can explain many alternatives and specific variations of hair bending phenotypes. Mechanisms for hair papilla budding or its division by bisection or fission can explain MPC formation. Epithelial‐to‐mesenchymal (EMT) and mesenchymal‐to‐epithelial (MET) transitions, acting in collaboration with epithelial‐mesenchymal communications are also considered as mechanisms affecting hair growth and its bending and twisting. These may be treated as sub‐mechanisms of an overall development from neural‐crest stem cell (NCSC) lineages to differentiated hair follicle (HF) cell types, thus providing a unified framework for hair growth and development. 相似文献
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Nina G. Jablonski 《American journal of physical anthropology》2021,175(2):437-447