pigmentation

色素沉着
  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    自然色棉(NCC)颜色类型的单调性已经成为其广泛应用的主要限制因素,同时共存,纤维质量差。随着可持续发展需求的增加,纤维质量和颜色的同步改善变得更加紧迫和关键。陆地棉野生棉花LAC15的同源基因,GhLAC15在棕色棉XC20从5DPA(花后日)到25DPA的发育纤维中也主要表达,特别是在次生细胞壁增厚阶段(20DPA和25DPA)。在具有下调的GhLAC15(GhLAC15i)的XC20植物中,观察到原花青素(PAs)和木质素含量显着降低。在GhLAC15i植物中,苯丙烷和类黄酮生物合成途径中的一些关键基因被下调。值得注意的是,GhLAC15i植株的纤维长度明显增加,纤维颜色变浅。此外,我们发现,与WT相比,GhLAC15i植物的棉纤维细胞壁厚度减少,纤维表面变得更光滑。一起来看,这项研究表明,GhLAC15在天然有色棉纤维中的PAs和木质素生物合成中起重要作用。它可能通过催化PAs氧化和木质素聚合来调节纤维颜色和纤维质量,最终调节纤维的着色和发展。
    The monotonicity of color type in naturally colored cottons (NCCs) has become the main limiting factor to their widespread use, simultaneously coexisting with poor fiber quality. The synchronous improvement of fiber quality and color become more urgent and crucial as the demand for sustainable development increases. The homologous gene of wild cotton Gossypium stocksii LAC15 in G. hirsutum, GhLAC15, was also dominantly expressed in the developing fibers of brown cotton XC20 from 5 DPA (day post anthesis) to 25 DPA, especially at the secondary cell wall thickening stage (20 DPA and 25 DPA). In XC20 plants with downregulated GhLAC15 (GhLAC15i), a remarkable reduction in proanthocyanidins (PAs) and lignin contents was observed. Some of the key genes in the phenylpropane and flavonoid biosynthesis pathway were down-regulated in GhLAC15i plants. Notably, the fiber length of GhLAC15i plants showed an obvious increase and the fiber color was lightened. Moreover, we found that the thickness of cotton fiber cell wall was decreased in GhLAC15i plants and the fiber surface became smoother compared to that of WT. Taken together, this study revealed that GhLAC15 played an important role in PAs and lignin biosynthesis in naturally colored cotton fibers. It might mediate fiber color and fiber quality by catalyzing PAs oxidation and lignin polymerization, ultimately regulating fiber colouration and development.
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  • 文章类型: Journal Article
    背景:花色苷是在广泛的植物系统发育范围内着色的重要贡献者。花青素的生物学功能从繁殖到保护免受生物和非生物胁迫。由于突变体的表型清晰可见,花青素的生物合成及其复杂的调控已经在许多植物物种中进行了研究。编码花青素生物合成酶的基因受包含MYB,bHLH和WD40蛋白。
    结果:花青素色素与花青素色素的系统比较非色素品种在许多植物物种中进行,涵盖了开花植物的分类学多样性。在文献中筛选了报道了导致花青素丢失的遗传因素的病例。此外,重新分析了来自四项先前研究的转录组数据集,以根据其表达模式确定可能导致颜色变异的基因。定量了不同结构和调节基因对种内色素差异的贡献。迄今为止,有关转录因子的差异是对同一物种的两个品种之间观察到的色素沉着差异的最常见解释。在分析病例中的转录因子中,与bHLH或WD40基因相比,MYB基因更容易解释色素沉着差异。在结构基因中,DFR基因通常与花青素的损失有关。
    结论:这些发现支持了先前关于转录调控对进化变化的敏感性及其对新型着色表型进化的重要性的假设。我们的发现强调了MYB的特殊意义及其在MBW复合物特异性中的明显普遍作用。
    BACKGROUND: Anthocyanins are important contributors to coloration across a wide phylogenetic range of plants. Biological functions of anthocyanins span from reproduction to protection against biotic and abiotic stressors. Owing to a clearly visible phenotype of mutants, the anthocyanin biosynthesis and its sophisticated regulation have been studied in numerous plant species. Genes encoding the anthocyanin biosynthesis enzymes are regulated by a transcription factor complex comprising MYB, bHLH and WD40 proteins.
    RESULTS: A systematic comparison of anthocyanin-pigmented vs. non-pigmented varieties was performed within numerous plant species covering the taxonomic diversity of flowering plants. The literature was screened for cases in which genetic factors causing anthocyanin loss were reported. Additionally, transcriptomic data sets from four previous studies were reanalyzed to determine the genes possibly responsible for color variation based on their expression pattern. The contribution of different structural and regulatory genes to the intraspecific pigmentation differences was quantified. Differences concerning transcription factors are by far the most frequent explanation for pigmentation differences observed between two varieties of the same species. Among the transcription factors in the analyzed cases, MYB genes are significantly more prone to account for pigmentation differences compared to bHLH or WD40 genes. Among the structural genes, DFR genes are most often associated with anthocyanin loss.
    CONCLUSIONS: These findings support previous assumptions about the susceptibility of transcriptional regulation to evolutionary changes and its importance for the evolution of novel coloration phenotypes. Our findings underline the particular significance of MYBs and their apparent prevalent role in the specificity of the MBW complex.
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  • 文章类型: Journal Article
    迄今为止,在美国水貂(Neogalevison)中观察到的30多种毛皮颜色中,只有10种与特定基因有关。皇家柔和的皮草颜色是彼此非常相似的大量棕色颜色的一部分,使育种和选择过程更加困难。在这里,我们对来自两个不同水貂种群的五种具有皇家粉彩(b/b)表型的美国水貂进行了全基因组测序。我们确定了内源性逆转录病毒元件1型(ERV1)插入编码HPS3蛋白的基因的第一个内含子,它调节含有酪氨酸酶的囊泡向成熟黑色素体的运输。通过Cas9靶向纳米孔测序,我们重建了11.7KbERV1插入的全长序列,并观察到高甲基化扩散到HPS3基因启动子区.这些发现强调了HPS3在黑色素和黑色素形成中的作用,以及调节头发颜色强度和光谱的遗传过程。此外,在水貂育种项目中,这些数据对于跟踪经济上重要的毛皮质量也很有用。
    To date, only 10 of the more than 30 fur colours that had been observed in American mink (Neogale vison) have been linked to specific genes. The Royal pastel fur colour is part of a large family of brownish colours that are quite similar to one another, making breeding and selecting processes more difficult. Here we carried out whole-genome sequencing of five American minks with Royal pastel (b/b) phenotypes originating from two distinct mink populations. We identified an insertion of endogenous retroviral element type 1 (ERV1) into the first intron of the gene encoding the HPS3 protein, which regulates the trafficking of tyrosinase-containing vesicles to maturing melanosomes. With Cas9-targeted nanopore sequencing, we reconstructed the full-length sequence of the 11.7 Kb ERV1 insertion and observed hypermethylation that spread to the HPS3 gene promoter region. These findings highlight the role of HPS3 in the formation of melanosomes and melanin, as well as the genetic process regulating the intensity and spectrum of hair colour. Moreover, in mink breeding projects, these data are also useful for tracking economically important fur qualities.
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  • 文章类型: Journal Article
    具有巯基取代基的化合物和唑类化合物表现出有效的抗酪氨酸酶效力。2-噻吩并噻唑(2-TBT),巯基和唑的杂化结构,以两种互变异构形式存在,根据几项研究,硫酮形式占优势。2-TBT衍生物被合成为潜在的酪氨酸酶抑制剂,因为硫酮互变异构形式具有与苯基硫脲(PTU)相同的N-CS部分,其适于与酪氨酸酶活性位点中存在的铜离子螯合。10种2-TBT衍生物中有8种抑制蘑菇酪氨酸酶的单酚酶和二酚酶活性,IC50值为0.02-0.83μM。进行动力学研究和分子动力学模拟以确定它们的作用模式并确认2-TBT衍生物以高稳定性结合酪氨酸酶活性位点。衍生物3、4、8和10强烈抑制B16F10细胞中的黑素生成,其模式类似于细胞酪氨酸酶抑制的结果,从而表明它们抑制黑素生成的能力是由于它们的酪氨酸酶抑制活性。在一个用斑马鱼胚胎进行的脱色实验中,所有2-TBT衍生物均显示出比曲酸更好的效力,即使浓度低400到2000倍,1和10即使在低20倍的浓度下也比PTU更强烈地减少斑马鱼幼虫的色素沉着。研究在存在和不存在CuSO4的情况下2-TBT衍生物的酪氨酸酶抑制活性变化及其铜螯合能力的实验表明,这些衍生物通过螯合酪氨酸酶的铜离子而发挥其抗黑色素生成作用。这些结果表明2-TBT衍生物是治疗色素沉着过度相关疾病的有希望的候选物。
    Compounds with sulfhydryl substituents and azole compounds exhibit potent anti-tyrosinase potency. 2-Thiobenzothiazole (2-TBT), a hybrid structure of sulfhydryl and azole, exists in two tautomeric forms, with the thione form being predominant according to several studies. 2-TBT derivatives were synthesized as potential tyrosinase inhibitors as the thione tautomeric form has the same N-CS moiety as phenylthiourea (PTU), which is suitable for chelation with the copper ions present in the tyrosinase active site. Eight of the ten 2-TBT derivatives inhibited the monophenolase and diphenolase activities of mushroom tyrosinase, with IC50 values of 0.02-0.83 μM. Kinetic studies and molecular dynamics simulations were performed to determine their mode of action and confirm that the 2-TBT derivatives bind to the tyrosinase active site with high stability. Derivatives 3, 4, 8, and 10 strongly inhibited melanogenesis in B16F10 cells in a pattern similar to the results of cellular tyrosinase inhibition, thereby suggesting that their ability to inhibit melanogenesis was due to their tyrosinase inhibitory activity. In a depigmentation experiment using zebrafish embryos, all 2-TBT derivatives showed better potency than kojic acid, even at 400 to 2000 times lower concentration, and 1 and 10 reduced zebrafish larva pigmentation more strongly than PTU even at 20 times lower concentration. Experiments investigating the changes in tyrosinase inhibitory activity of 2-TBT derivatives in the presence and absence of CuSO4 and their copper chelating ability supported that these derivatives exert their anti-melanogenic effect by chelating the copper ions of tyrosinase. These results suggest that 2-TBT derivatives are promising candidates for the treatment of hyperpigmentation-related disorders.
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  • 文章类型: Journal Article
    背景:Betalains是红色和黄色色素,在石竹目的一些植物物种中积累。这些色素具有抗氧化和药用特性,可用作功能性食品。它们还增强了作物对压力或疾病的抵抗力。属于其他目的的几种植物物种已被基因工程改造以表达甜菜碱色素。Betalains也可用于观赏植物的花朵颜色修饰,因为它们赋予了生动的色彩,像红色和黄色。迄今为止,betalain工程,以修改Toreniafournieri或叉骨花的颜色-一种流行的观赏植物,尚未尝试。
    结果:我们报告了从紫色紫罗兰品种“皇冠紫罗兰”生产的紫色带红色花的紫罗兰植物。\“三个甜菜碱生物合成基因编码CYP76AD1,二羟苯丙氨酸(DOPA)4,5-双加氧酶(DOD),和环多巴5-O-葡萄糖基转移酶(5GT)在花椰菜花叶病毒(CaMV)35S启动子下组成性异位表达,并通过定量实时PCR(qRT-PCR)分析证实它们的表达。颜色特征,通过分光光度比色计和新鲜花瓣提取物的光谱吸光度测量,揭示了一个成功的从紫色到带红色的花朵颜色修改。在整个植物中也观察到红色色素沉着。LC-DAD-MS和HPLC分析证实,额外积累的色素是β花青素-主要是β-苷(β-苷5-O-葡萄糖苷)和,在较小程度上,异甜菜碱(异甜菜碱5-O-葡萄糖苷)。还检测到了五花花瓣中的五种内源性花色苷。
    结论:这项研究表明,除了在生育中的天然色素外,外来的β花青素积累的可能性,一种受欢迎的花园床上用品植物。据我们所知,这是第一份报告,介绍了在猪科中甜菜碱色素的工程表达。甜菜碱的基因工程在将来的花草育种计划中增加花的颜色变化方面将是有价值的。
    BACKGROUND: Betalains are reddish and yellow pigments that accumulate in a few plant species of the order Caryophyllales. These pigments have antioxidant and medicinal properties and can be used as functional foods. They also enhance resistance to stress or disease in crops. Several plant species belonging to other orders have been genetically engineered to express betalain pigments. Betalains can also be used for flower color modification in ornamental plants, as they confer vivid colors, like red and yellow. To date, betalain engineering to modify the color of Torenia fournieri-or wishbone flower-a popular ornamental plant, has not been attempted.
    RESULTS: We report the production of purple-reddish-flowered torenia plants from the purple torenia cultivar \"Crown Violet.\"  Three betalain-biosynthetic genes encoding CYP76AD1, dihydroxyphenylalanine (DOPA) 4,5-dioxygenase (DOD), and cyclo-DOPA 5-O-glucosyltransferase (5GT) were constitutively ectopically expressed under the cauliflower mosaic virus (CaMV) 35S promoter, and their expression was confirmed by quantitative real-time PCR (qRT-PCR) analysis. The color traits, measured by spectrophotometric colorimeter and spectral absorbance of fresh petal extracts, revealed a successful flower color modification from purple to reddish. Red pigmentation was also observed in whole plants. LC-DAD-MS and HPLC analyses confirmed that the additional accumulated pigments were betacyanins-mainly betanin (betanidin 5-O-glucoside) and, to a lesser extent, isobetanin (isobetanidin 5-O-glucoside). The five endogenous anthocyanins in torenia flower petals were also detected.
    CONCLUSIONS: This study demonstrates the possibility of foreign betacyanin accumulation in addition to native pigments in torenia, a popular garden bedding plant. To our knowledge, this is the first report presenting engineered expression of betalain pigments in the family Linderniaceae. Genetic engineering of betalains would be valuable in increasing the flower color variation in future breeding programs for torenia.
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  • 文章类型: Journal Article
    马匹之间的皮毛颜色变化引起了遗传学和育种研究的极大兴趣。颜色的范围主要由类型决定,浓度,和黑色素的分布,Eumelanin和pheomelanin之间的平衡受到众多遗传因素的影响。基因组和测序技术的进步已经能够鉴定出几种影响毛色的候选基因。从而阐明这些不同表型的遗传基础。在这次审查中,我们简明扼要地将马匹和驴的外衣颜色分类,关注与色素沉着有关的黑色素的生物合成和类型。此外,我们强调了一些关键候选基因的调节作用,如MC1R,TYR,MITF,ASIP,和KIT,在外套颜色变化。此外,这篇评论探讨了毛色如何与选择性育种和特定的马病相关,为开发育种策略提供有价值的见解,这些策略可以增强马种的美学和健康方面。
    Variation in coat color among equids has attracted significant interest in genetics and breeding research. The range of colors is primarily determined by the type, concentration, and distribution of melanin pigments, with the balance between eumelanin and pheomelanin influenced by numerous genetic factors. Advances in genomic and sequencing technologies have enabled the identification of several candidate genes that influence coat color, thereby clarifying the genetic basis of these diverse phenotypes. In this review, we concisely categorize coat coloration in horses and donkeys, focusing on the biosynthesis and types of melanin involved in pigmentation. Moreover, we highlight the regulatory roles of some key candidate genes, such as MC1R, TYR, MITF, ASIP, and KIT, in coat color variation. Moreover, the review explores how coat color relates to selective breeding and specific equine diseases, offering valuable insights for developing breeding strategies that enhance both the esthetic and health aspects of equine species.
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  • 文章类型: Journal Article
    对眼睛颜色色素沉着最显著的遗传影响归因于HERC2基因中的内含子SNPrs12913832,与相邻OCA2基因的启动子区相互作用。这种互动,通过形成染色质环,调节OCA2的转录活性,直接影响眼睛颜色色素沉着。最近的技术进步已经阐明了细胞核内基因组的精确空间组织,染色质结构在调节各种基因组功能中起着关键作用。在这项研究中,我们使用荧光原位杂交(FISH)和高通量染色体构象捕获(Hi-C)数据研究了人类淋巴细胞核中靠近HERC2/OCA2基因座的染色质的组织.属于染色体区域15q12-q13.1的3Mb基因组DNA显示存在三个连续的染色质环,根据SNPrs12913832中A或G等位基因的存在,其表现出不同的压实水平。此外,对基因基因组组织的分析表明,该染色体区域在进化上是高度保守的,对其他脊椎动物物种的同势区域的分析证明了这一点。因此,rs12913832变体的作用不仅与确定OCA2基因的转录激活有关,而且与较大区域的染色质压实有关,强调染色质组织在相关基因的适当调节中的关键作用。考虑这一发现的更广泛含义至关重要,特别是关于位于内含子区域内的相似多态性的潜在调节作用,它们不会通过调节剪接过程来影响相同的基因,但是它们调节相邻基因的表达。因此,在使用全外显子组测序进行诊断时,应谨慎行事,作为内含子序列可以提供有关它们所在区域的有价值的基因调控信息。因此,未来的研究工作还应该致力于更深入地了解内含子SNP在染色质环组织和转录调控中的作用和作用方式的确切机制.
    The most significant genetic influence on eye color pigmentation is attributed to the intronic SNP rs12913832 in the HERC2 gene, which interacts with the promoter region of the contiguous OCA2 gene. This interaction, through the formation of a chromatin loop, modulates the transcriptional activity of OCA2, directly affecting eye color pigmentation. Recent advancements in technology have elucidated the precise spatial organization of the genome within the cell nucleus, with chromatin architecture playing a pivotal role in regulating various genome functions. In this study, we investigated the organization of the chromatin close to the HERC2/OCA2 locus in human lymphocyte nuclei using fluorescence in situ hybridization (FISH) and high-throughput chromosome conformation capture (Hi-C) data. The 3 Mb of genomic DNA that belonged to the chromosomal region 15q12-q13.1 revealed the presence of three contiguous chromatin loops, which exhibited a different level of compaction depending on the presence of the A or G allele in the SNP rs12913832. Moreover, the analysis of the genomic organization of the genes has demonstrated that this chromosomal region is evolutionarily highly conserved, as evidenced by the analysis of syntenic regions in species from other Vertebrate classes. Thus, the role of rs12913832 variant is relevant not only in determining the transcriptional activation of the OCA2 gene but also in the chromatin compaction of a larger region, underscoring the critical role of chromatin organization in the proper regulation of the involved genes. It is crucial to consider the broader implications of this finding, especially regarding the potential regulatory role of similar polymorphisms located within intronic regions, which do not influence the same gene by modulating the splicing process, but they regulate the expression of adjacent genes. Therefore, caution should be exercised when utilizing whole-exome sequencing for diagnostic purposes, as intron sequences may provide valuable gene regulation information on the region where they reside. Thus, future research efforts should also be directed towards gaining a deeper understanding of the precise mechanisms underlying the role and mode of action of intronic SNPs in chromatin loop organization and transcriptional regulation.
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  • 文章类型: Journal Article
    番茄果实的成熟伴随着类胡萝卜素的积累和颜色的变化。为了阐明果实成熟过程中类胡萝卜素合成的调节机制,对红果番茄(WP190)和橙果番茄(ZH108)进行了转录组和代谢组组合分析。在六个不同阶段的番茄果实中鉴定出总共二十九(29)种不同的类胡萝卜素化合物。随着果实的成熟,大多数类胡萝卜素的丰度显着增强,具有较高水平的番茄红素;(E/Z)-番茄红素;和α-,在开花后50天和60天(DPA)在WP190的果实中检测到β-和γ-类胡萝卜素。转录组分析表明,两个品种的果实在50DPA时表现出最高数量的差异表达基因(DEGs),通过WGCNA建立了与果实类胡萝卜素含量相关的共表达基因模块。qRT-PCR分析验证了转录组结果,番茄红素生物合成基因的转录水平显着升高(包括SlPSY2,SlZCIS,SlPDS,与ZH108相比,在50DPA的WP190中观察到SlZDS和SlCRTSO2)。此外,在成熟过程中,乙烯生物合成(SlACSs和SlACOs)和信号(SlEIN3和SlERF1)基因的表达也增加,这些机制可能调控番茄类胡萝卜素积累和果实成熟。不同时期两个番茄品种果实中几个关键基因的差异表达调控了类胡萝卜素的积累,并导致两个番茄品种间的颜色差异。本研究结果为全面了解番茄果实发育过程中类胡萝卜素积累和乙烯生物合成及信号转导途径调控机制提供了依据。
    Tomato fruit ripening is accompanied by carotenoid accumulation and color changes. To elucidate the regulatory mechanisms underlying carotenoid synthesis during fruit ripening, a combined transcriptomic and metabolomic analysis was conducted on red-fruited tomato (WP190) and orange-fruited tomato (ZH108). A total of twenty-nine (29) different carotenoid compounds were identified in tomato fruits at six different stages. The abundance of the majority of the carotenoids was enhanced significantly with fruit ripening, with higher levels of lycopene; (E/Z)-lycopene; and α-, β- and γ-carotenoids detected in the fruits of WP190 at 50 and 60 days post anthesis (DPA). Transcriptome analysis revealed that the fruits of two varieties exhibited the highest number of differentially expressed genes (DEGs) at 50 DPA, and a module of co-expressed genes related to the fruit carotenoid content was established by WGCNA. qRT-PCR analysis validated the transcriptome result with a significantly elevated transcript level of lycopene biosynthesis genes (including SlPSY2, SlZCIS, SlPDS, SlZDS and SlCRTSO2) observed in WP190 at 50 DPA in comparison to ZH108. In addition, during the ripening process, the expression of ethylene biosynthesis (SlACSs and SlACOs) and signaling (SlEIN3 and SlERF1) genes was also increased, and these mechanisms may regulate carotenoid accumulation and fruit ripening in tomato. Differential expression of several key genes in the fruit of two tomato varieties at different stages regulates the accumulation of carotenoids and leads to differences in color between the two varieties of tomato. The results of this study provide a comprehensive understanding of carotenoid accumulation and ethylene biosynthesis and signal transduction pathway regulatory mechanisms during tomato fruit development.
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  • 文章类型: Journal Article
    蛋壳颜色起着重要的生物学作用,吸引了鸡蛋零售商和研究人员的关注。然而,非编码RNA是否参与不同蛋壳颜色之间的色素沉积仍然未知。在这项研究中,RNA测序用于分析长顺鸡蓝壳母鸡的子宫腺转录组(CircRNA和miRNA),产生四种不同的蛋壳色鸡蛋,包括深蓝色PK(DB)和浅蓝色(LB)。深棕色和绿色(介于蓝色和粉红色之间,DP)和粉红色(p)。我们发现miR-192-x,靶向SLC16a7,在DB中表达,DP,和LB组与PK组相比,这表明miR-192-x可能在蓝蛋壳颜色中起作用。KEGG和GO分析表明,在深色和浅蓝色蛋壳鸡中检测到具有靶向基因的“代谢途径”,例如BLVRA和HMOX1,这证实了胆绿素和HO-1的不同比例参与了蓝色的沉积。正如连通性分析所注释的那样,RASGRF1和RASGRF2,属于RASGRF家族,参与Ras信号通路,在细胞生长中起着重要作用,分化,转移和凋亡。我们的发现丰富了circRNA的数据库,鸡子宫组织的miRNAs和基因,这将有助于加速蓝蛋壳色层的分子选择。
    Eggshell color plays important biological roles and attracts the attention of both egg retailers and researchers. However, whether non-coding RNAs are involved in pigment deposition among different eggshell colors remains unknown. In this study, RNA sequencing was used to analyse the uterine gland transcriptome (CircRNA and miRNA) of Changshun chicken blue-shell hens producing four different eggshell color eggs including dark blue PK(DB) and light blue (LB), dark brown and greenish (between blue and pink, DP) and pink (p). We found that miR-192-x, targeting SLC16a7, was expressed in DB, DP, and LB groups compared with the PK group, which indicates that miR-192-x may play a role in the blue eggshell color. KEGG and GO analyses showed that the \"metabolic pathways\" with targeted genes such BLVRA and HMOX1 were detected in dark and light blue color eggshell chickens, which confirms the different ratios of biliverdin and HO-1 involved in the deposition of blue color. As annotated by connectivity analysis, RASGRF1 and RASGRF2, belonging to the RASGRF family, are involved in the Ras signaling pathway, which plays an important role in cell growth, differentiation, metastasis and apoptosis. Our findings enrich the database of circRNA, miRNAs and genes for chicken uterine tissue, which will be useful in accelerating molecular selection for blue eggshell color layers.
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