MC1R

MC1R
  • 文章类型: Journal Article
    Researchers have found that individuals with red hair often require higher doses of anesthetic medications to achieve the same level of pain relief or sedation compared to people with other hair colors. This review investigates the effects of local and systemic anesthetics in individuals with red hair compared to the general population. Focusing on both local and systemic anesthesia, this research aims to elucidate any distinctive responses or complications among the red-haired demographic. Utilizing a systematic review approach, we analyzed a wide array of previous research papers published over the last two decades to gather relevant data. Our findings suggest that people with red hair may exhibit variations in their response to both local and systemic anesthesia compared to non-red-haired individuals, indicating the necessity for tailored anesthetic approaches in clinical settings. Previous studies have found that individuals with red hair, as well as those with the corresponding melanocortin-1 receptor (MC1R) mutations, exhibit a greater resistance to the effects of systemic and local anesthetics. This review provides valuable insights that could help healthcare professionals optimize anesthetic management and improve patient outcomes, particularly for those with red hair.
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  • 文章类型: Journal Article
    红头发与对疼痛的敏感性改变有关,镇痛药,和催眠。这种改变可能受到黑皮质素-1受体(MC1R)基因变体的影响,主要见于红头发。这篇叙述性综述的目的是探索和呈现关于红头发的知识现状及其与疼痛反应性改变的合理关联,镇痛药,和催眠。PubMed中的结构化搜索,CINAHL完成,和Scopus电子数据库进行。有证据表明,红头发的女性对疼痛的敏感性增加。相反,数据还表明MC1R变体等位基因的纯合携带者具有较高的疼痛耐受性。已经报道了不同的镇痛反应,MC1R变异等位基因纯合携带者的镇痛反应性增加,而红发患者的镇痛作用减少。数据表明红头发对催眠药的需求增加。然而,发现红头发与催眠药反应性改变之间的统计关联的尝试失败也很明显.即使红头发和对疼痛的反应性改变之间似乎存在关联,镇痛药,和/或催眠药,这篇叙述性综述的结果尚无定论。需要对更大的人群和MC1R测试进行进一步的研究。
    Red hair has been linked to altered sensitivity to pain, analgesics, and hypnotics. This alteration may be impacted by variants in the melanocortin-1 receptor (MC1R) gene, which are mainly found in redheads. The aim of this narrative review was to explore and present the current state of knowledge on red hair and its plausible associations with altered responsiveness to pain, analgesics, and hypnotics. Structured searches in the PubMed, CINAHL Complete, and Scopus electronic databases were conducted. Evidence suggests that women with red hair have an increased sensitivity to pain. Conversely, data also indicate a higher pain tolerance in homozygous carriers of MC1R variant alleles. Varied responses to analgesia have been reported, with both increased analgesic responsiveness in homozygous carriers of MC1R variant alleles and less analgesia in redheads. Data indicate an increased need for hypnotics in redheads. However, failed attempts to find statistical associations between red hair and altered responsiveness to hypnotics are also evident. Even though there seems to be an association between red hair and an altered responsiveness to pain, analgesics, and/or hypnotics, the results of this narrative review are inconclusive. Further research studies with larger populations and MC1R testing are needed.
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  • 文章类型: Journal Article
    皮肤-脑轴已被认为在几种病理生理状况中起作用,包括阿片类药物成瘾,帕金森病和许多其他疾病。最近的证据表明,调节皮肤色素沉着的途径可能直接和间接地调节行为。相反,中枢神经系统驱动的神经和激素反应已被证明可以调节色素沉着,例如,在压力下。此外,由于中枢神经系统中黑素细胞和神经元的共同神经外胚层起源,某些中枢神经系统疾病可能与色素沉着相关的变化有关,例如,MC1R变体。此外,皮肤的HPA类似物将皮肤色素沉着与内分泌系统联系起来,从而允许皮肤索引可能的荷尔蒙异常明显。在这次审查中,提供了对大脑中皮肤色素产生和神经黑色素合成的洞察力,并总结了最近的发现,特别关注色素沉着,与中枢神经系统相连。因此,这篇综述可能有助于更好地理解几种皮肤-大脑关联在健康和疾病中的作用机制.
    The skin-brain axis has been suggested to play a role in several pathophysiological conditions, including opioid addiction, Parkinson\'s disease and many others. Recent evidence suggests that pathways regulating skin pigmentation may directly and indirectly regulate behaviour. Conversely, CNS-driven neural and hormonal responses have been demonstrated to regulate pigmentation, e.g., under stress. Additionally, due to the shared neuroectodermal origins of the melanocytes and neurons in the CNS, certain CNS diseases may be linked to pigmentation-related changes due to common regulators, e.g., MC1R variations. Furthermore, the HPA analogue of the skin connects skin pigmentation to the endocrine system, thereby allowing the skin to index possible hormonal abnormalities visibly. In this review, insight is provided into skin pigment production and neuromelanin synthesis in the brain and recent findings are summarised on how signalling pathways in the skin, with a particular focus on pigmentation, are interconnected with the central nervous system. Thus, this review may supply a better understanding of the mechanism of several skin-brain associations in health and disease.
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  • 文章类型: Journal Article
    保持野生种群的颜色变化长期以来一直使进化生物学家着迷,尽管大多数研究都集中在表现出相当简单的遗传模式和遗传结构的离散性状上。然而,在野生种群中,对连续颜色性状及其潜在的寡或多基因遗传基础的研究仍然很少。我们使用全基因组关联方法对75个个体的全基因组数据研究了欧洲谷仓猫头鹰(Tytoalba)不断变化的白色至红色羽毛颜色的遗传学。我们证实了黑皮质素-1受体基因(MC1R)的突变与着色有关,并确定了两个新的区域,位于超级脚手架9和42中。这三个区域的组合解释了大部分的颜色变化(80.37%,95%可信区间58.45-100%)。一个发现的区域,位于性染色体中,在共享特定MC1R基因型的猫头鹰中最极端的颜色之间存在差异。该区域可能在该物种的颜色性别二态中起作用,可能与常染色体MC1R相互作用。因此,我们提供了对连续颜色变异的遗传结构的见解,指出了在基因座之间具有潜在上位效应的寡基因基础,这将有助于未来的研究了解自然界中如何保持连续的颜色变化。
    The maintenance of colour variation in wild populations has long fascinated evolutionary biologists, although most studies have focused on discrete traits exhibiting rather simple inheritance patterns and genetic architectures. However, the study of continuous colour traits and their potentially oligo- or polygenic genetic bases remains rare in wild populations. We studied the genetics of the continuously varying white-to-rufous plumage coloration of the European barn owl (Tyto alba) using a genome-wide association approach on the whole-genome data of 75 individuals. We confirmed a mutation at the melanocortin-1-receptor gene (MC1R) is involved in the coloration and identified two new regions, located in super-scaffolds 9 and 42. The combination of the three regions explains most of the colour variation (80.37%, 95% credible interval 58.45-100%). One discovered region, located in the sex chromosome, differs between the most extreme colorations in owls sharing a specific MC1R genotype. This region may play a role in the colour sex dimorphism of this species, possibly in interaction with the autosomal MC1R. We thus provide insights into the genetic architecture of continuous colour variation, pointing to an oligogenic basis with potential epistatic effects among loci that should aid future studies understanding how continuous colour variation is maintained in nature.
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  • 文章类型: Journal Article
    背景:外套颜色,作为猪的独特表型特征,经常受到偏好和选择的影响,例如在新品种的育种过程中。山下长黑猪来源于伯克希尔公猪和利查黑猪母猪的杂交,它被培育为具有优质肉类和黑色外套颜色的父系。尽管在F1代交叉中,外套颜色为黑色,它在后代中隔离。本研究旨在揭示皮毛颜色分离的遗传基础,并开发一种区分山下长黑猪中黑猪和斑点的方法。
    结果:只有一个QTL定位在6号染色体的近端,并挑选出MC1R基因作为功能候选基因。MC1R基因共鉴定出11个多态位点,只有c.67_68insCC变体与涂层颜色共分离。这个基因座不被任何限制性内切酶识别,所以它不能通过PCR-RFLP进行基因分型。c.370G>A多态性位点也与毛色显著相关,并与c.67_68insCC紧密连锁不平衡。此外,它被BSPHI认可。因此,建立了PCR-RFLP方法来对该基因座进行基因分型。除了175个测序的个体,用PCR-RFLP对另外1,391头猪进行了基因分型,所有GG(一条带)的猪都是黑色的。
    结论:MC1R基因(c.67_68insCC)是毛色分离的致病基因(突变),c.370G>A的PCR-RFLP可用于山夏长黑猪的育种程序。
    Coat color, as a distinct phenotypic characteristic of pigs, is often subject to preference and selection, such as in the breeding process of new breed. Shanxia long black pig was derived from an intercross between Berkshire boars and Licha black pig sows, and it was bred as a paternal strain with high-quality meat and black coat color. Although the coat color was black in the F1 generation of the intercross, it segregated in the subsequent generations. This study aims to decode the genetic basis of coat color segregation and develop a method to distinct black pigs from the spotted in Shanxia long black pig.
    Only a QTL was mapped at the proximal end of chromosome 6, and MC1R gene was picked out as functional candidate gene. A total of 11 polymorphic loci were identified in MC1R gene, and only the c.67_68insCC variant was co-segregating with coat color. This locus isn\'t recognized by any restriction endonuclease, so it can\'t be genotyped by PCR-RFLP. The c.370G > A polymorphic locus was also significantly associated with coat color, and has been in tightly linkage disequilibrium with the c.67_68insCC. Furthermore, it is recognized by BspHI. Therefore, a PCR-RFLP method was set up to genotype this locus. Besides the 175 sequenced individuals, another more 1,391 pigs were genotyped with PCR-RFLP, and all of pigs with GG (one band) were black.
    MC1R gene (c.67_68insCC) is the causative gene (mutation) for the coat color segregation, and the PCR-RFLP of c.370G > A could be used in the breeding program of Shanxia long black pig.
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  • 文章类型: Journal Article
    探讨西班牙裔个体在收到皮肤癌预防信息后与沟通和信息寻求相关的因素。
    使用多变量逻辑回归分析现有的人口统计数据,个人经历,显著性,和从西班牙裔个人收集的信念变量,以确定与分享和寻求有关皮肤癌预防信息的独立关联。
    在578名参与者中,53%的人报告了有关皮肤癌预防行为或皮肤癌遗传风险的任何沟通;31%和21%的人寻求有关预防行为或遗传风险的其他信息。分别。女性性别,更大的感知严重性,得皮肤癌的几率更高,较低的健康素养与更多的沟通有关,虽然不知道自己患皮肤癌的风险与沟通减少有关。更大的健康计算能力和更高的癌症担忧与寻求有关预防行为和遗传风险的信息有关。
    多达一半的参与者报告交流或寻求信息,尽管与特定活动相关的因素有所不同。未来的研究应该评估如何促进西班牙裔社区的沟通行为,以及分享和寻求信息如何影响个人的网络预防实践。
    确定了在获得皮肤癌预防信息后,与西班牙裔人之间的沟通行为有关的几个因素。试验注册:该试验已在clinicaltrials.gov(NCT03509467)上注册。
    UNASSIGNED: To explore factors associated with communication and information-seeking after receipt of skin cancer prevention information among Hispanic individuals.
    UNASSIGNED: Multivariable logistic regression was used to analyze existing data on demographics, personal experience, salience, and beliefs variables collected from Hispanic individuals to determine independent associations with sharing and seeking information about skin cancer prevention.
    UNASSIGNED: Of 578 participants, 53% reported any communication about skin cancer prevention behaviors or skin cancer genetic risk; and 31% and 21% sought additional information about preventive behaviors or genetic risk, respectively. Female sex, greater perceived severity, higher comparative chance of getting skin cancer, and lower health literacy were associated with greater communication, while having no idea of one\'s own skin cancer risk was related to less communication. Greater health numeracy and higher cancer worry were associated with information-seeking about prevention behaviors and genetic risk.
    UNASSIGNED: Up to half of participants reported communication or information-seeking, although factors associated with specific activities differed. Future studies should evaluate how to promote communication behaviors in the Hispanic community and how sharing and seeking information influence an individual\'s network prevention practices.
    UNASSIGNED: Several factors related to communication behaviors among Hispanic people after obtaining skin cancer prevention information were identified.Trial registration: This trial was registered on clinicaltrials.gov (NCT03509467).
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  • 文章类型: Journal Article
    白色斑点是美国油漆马的标志性特征。美国油漆马协会(APHA)致力于记录这种股票型品种的谱系和表现,同时保持其独特的涂层颜色和构象。这里,使用1195个注册的美国油漆马的数字照片分析测量了外套的脱色比例(白色外套的百分比)。油漆马中常见的9种白色斑点多态性的基因型,和两个产生色素的基因座MCIR和ASIP基因,也由APHA提供。在存在更多白色斑点等位基因的马中,白色外套百分比显着增加,不管带有这些等位基因的基因座的数量,可能是由于每个白色斑点位点的强烈加性遗传效应,以及白色斑点基因座之间的附加上位效应。用栗子底涂层颜色(MC1R的基因型e/e)涂漆马具有明显更高的白涂层百分比,表明证实了色素沉着信号基因和白色斑点基因座之间的上位性相互作用。TheAPHAregistrycategoriesofRegularandSolidPaint-Bredalsodifferedintheirmedianwhitecoatpercentage(p<0.0001),但不在这种表型的整体范围内,重申色素脱失的区域模式在所需APHA表型定义中的重要性。白大衣百分比的多位点表型预测模型仅表现良好,在APHA育种者实际使用这种方法之前,可能需要改善样本量和基因分型的基因座数量。在未来,基于基因型进行表型预测的模型,和自动表型评估可以增加美国油漆马种群中有价值的视觉特征的产生,并在注册过程中改善APHA成员的体验。
    White spotting is an iconic feature of the American Paint Horse. The American Paint Horse Association (APHA) is dedicated to recording pedigree and performance of this stock-type breed, while preserving its distinctive coat color and conformation. Here, the depigmented proportion of the coat (% white coat) was measured using digital photograph analysis of 1195 registered American Paint Horses. Genotypes for nine white-spotting polymorphisms commonly found in Paint Horses, and two pigment-producing loci MCIR and ASIP genes, were also provided by the APHA. White-coat percent significantly increased in horses with more white-spotting alleles present, regardless of the number of loci bearing those alleles, likely due to a strong additive genetic effect at each white-spotting locus, as well as an additive epistatic effect among white spotting loci. Paint Horses with a chestnut base coat color (genotype e/e at MC1R) possessed a significantly higher white coat percentage, suggesting confirming an epistatic interaction between pigmentation signaling genes and loci for white spotting. The APHA registry categories of Regular versus Solid Paint-Bred also differed in their median white coat percentage (p < 0.0001), but not in the overall ranges of this phenotype, reenforcing the importance of the regional patterns of the depigmentation in the definition of the desired APHA phenotype. Multi-locus phenotype prediction models for white-coat percentage performed only moderately well, and improvements in the sample size and the number of loci genotyped will likely be needed before such an approach could be used practically by APHA breeders. In the future, models that enable phenotype prediction based on genotypes, and automated phenotype assessment could increase the production of valuable visual traits in the American Paint Horse population and improve the APHA member experience during the registration process.
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  • 文章类型: Journal Article
    我们比较了具有红色和白色耳垂的多个国内鸡品种的基因组,以确定耳垂颜色不同的品种组之间的分化区域。这是使用基于全基因组序列数据的选择性扫描作图方法完成的。在11号染色体上发现了最重要的选择性扫描,其中来自地中海的白色耳垂鸡品种具有共同的单倍型,以及多个候选基因所在的地方。最合理的功能候选基因是黑皮质素1受体(MC1R),一种已知调节皮肤和头发色素沉着的受体,它也是基于单倍型分析的位置支持最强的基因。It,然而,仍然需要通过实验来探索,以确定对鸡耳垂颜色变化的影响。我们的研究是使用基于全基因组测序数据的选择性扫描作图方法首次探索地中海鸡白色耳垂颜色的遗传基础,并显示了其在鉴定介导耳垂色素沉着的可能功能基因方面的价值。它还表明MC1R在鸟类中的潜在新作用,并举例说明了在现代鸡种形成过程中,花哨性状的选择如何影响基因组。
    We compared the genomes of multiple domestic chicken breeds with red and white earlobes to identify the differentiated regions between groups of breeds differing in earlobe color. This was done using a selective sweep mapping approach based on whole-genome sequence data. The most significant selective sweep was identified on chromosome 11, where the white earlobe chicken breeds originated from Mediterranean share a common haplotype, and where multiple candidate genes are located. The most plausible functional candidate gene is the Melanocortin 1 Receptor (MC1R), a receptor known to regulate pigmentation in the skin and hair, and it is also the gene with the strongest positional support from the haplotype-based analyses. It, however, still needs to be explored experimentally to identify effects also on chicken earlobe color variation. Our study is the first exploration of the genetic basis of white earlobe color in Mediterranean chickens using a selective sweep mapping method based on whole-genome sequencing data and shows its value for identifying likely functional genes mediating the pigmentation in earlobe. It also indicates a potential novel role of MC1R in birds and exemplifies how selection on fancy traits has influenced the genome during formation of the modern chicken breeds.
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  • 文章类型: Journal Article
    背景:多发性原发性黑色素瘤(MPM)是一种诊断挑战,即使是皮肤科医生可用的辅助成像技术。在选定的患者中,表型,成像方法的使用可以帮助更好地了解病变特征,并有助于早期诊断和管理。
    方法:在为期5年的前瞻性单中心随访中,在两名一级亲属中诊断出58例原发性黑色素瘤(SPM),肤色白皙,红头发,绿色的眼睛,和以前的黑色素瘤的个人病史。从病历中收集患者的行为和描述性人口统计学数据。从病理报告中检索了前两个原发性黑色素瘤(PM)的信息。从病历中收集了60例黑色素瘤的特征,视频皮肤镜软件,和病理报告。在切除22个随机选择的黑色素瘤之前进行反射共聚焦显微镜(RCM)。
    结果:从2018年2月到2023年5月,两名患者接受了总共214次可疑病变的切除活检,导致良性与恶性联合治疗比率(NNT)为2.0:1.0。对于女性和男性患者,每个诊断的黑素瘤(NNE)切除的摩尔数分别为1.7:1.0和6.9:1.0。原位黑素瘤/侵袭性黑素瘤比率(IIR)显示两名患者的原位黑素瘤比例更高。从2018年6月到2023年5月,通过全身皮肤联合检查(TBSE)共检测到58个SPM,全身皮肤摄影(TBSP),数字皮肤镜(DD),和通过比较方法进行序贯数字皮肤镜成像(SDDI)。较年轻的患者在第二次和第三次皮肤黑素瘤(CM)发生前一个月有PM,表征同步主CM的情况。男性年长的亲戚共有7例非同步性黑素瘤。
    结论:该CM队列由83.3%的原位黑色素瘤和16.7%的侵袭性黑色素瘤组成。两组患者均有较高比例的SPM与临床痣样形态(84.5%),不对称多成分的整体皮肤模式(60.3%)和位于下肢(46.6%)。当在切除前进行RCM时,81%的SPM具有提示恶性肿瘤的特征。同样,侵袭性黑素瘤在下肢更为常见(40%)。在多变量模型中,对于研究的两名高危患者,与痣无关(“denovo”)侵入性SPM诊断的机会比与痣相关的侵入性SPM诊断的机会大25倍.
    BACKGROUND: Multiple primary melanoma (MPM) is a diagnostic challenge even with ancillary imaging technologies available to dermatologists. In selected patients\' phenotypes, the use of imaging approaches can help better understand lesion characteristics, and aid in early diagnosis and management.
    METHODS: Under a 5-year prospective single-center follow-up, 58 s primary melanomas (SPMs) were diagnosed in two first-degree relatives, with fair skin color, red hair, green eyes, and personal history of one previous melanoma each. Patients\' behavior and descriptive demographic data were collected from medical records. The information on the first two primary melanomas (PMs) were retrieved from pathology reports. The characteristics of 60 melanomas were collected from medical records, video dermoscopy software, and pathology reports. Reflectance confocal microscopy (RCM) was performed prior to excision of 22 randomly selected melanomas.
    RESULTS: From February 2018 to May 2023, two patients underwent a pooled total of 214 excisional biopsies of suspect lesions, resulting in a combined benign versus malignant treatment ratio (NNT) of 2.0:1.0. The number of moles excised for each melanoma diagnosed (NNE) was 1.7:1.0 and 6.9:1.0 for the female and male patient respectively. The in-situ melanoma/invasive melanoma ratio (IIR) demonstrated a higher proportion of in-situ melanomas for both patients. From June 2018 to May 2023, a total of 58 SPMs were detected by the combination of total body skin exam (TBSE), total body skin photography (TBSP), digital dermoscopy (DD), and sequential digital dermoscopy imaging (SDDI) via comparative approach. The younger patient had her PM one month prior to the second and third cutaneous melanomas (CMs), characterizing a case of synchronous primary CM. The male older relative had a total of 7 nonsynchronous melanomas.
    CONCLUSIONS: This CM cohort is composed of 83.3% in-situ melanoma and 16.7% invasive melanoma. Both patients had a higher percentage of SPM with clinical nevus-like morphology (84.5%), global dermoscopic pattern of asymmetric multiple component (60.3%) and located on the lower limbs (46.6%). When RCM was performed prior to excision, 81% of SPM had features suggestive of malignancy. As well, invasive melanomas were more frequent in the lower limbs (40%). In the multivariate model, for the two high-risk patients studied, the chance of a not associated with nevus (\"de novo\") invasive SPM diagnosis is 25 times greater than the chance of a diagnosis of a nevus-associated invasive SPM.
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  • 文章类型: Journal Article
    希腊黑猪(或希腊猪)是希腊唯一公认的本土猪品种,通常在广泛或半广泛的生产系统。根据它的名字,特征品种外套颜色是纯黑色。在这项研究中,旨在对希腊黑猪品种进行系统的遗传鉴定,我们调查了已知影响外部和生产性状的主要基因的多态性(MC1R,KIT,NR6A1,VRTN和IGF2),并将这些数据与其他地中海和西巴尔干猪品种和野猪的种群遗传信息进行了比较。研究的基因标记都没有固定一个等位基因,这表明,在过去,这个品种经历了野猪的渗入和世界性猪品种的混合物,丰富的品种遗传库,应进一步调查,以设计适当的保护遗传策略。我们发现了一个新的MC1R等位基因,包含两个错义突变已经在另外两个独立的等位基因中报道,但这里存在相同的单倍型。该等位基因可能有助于公开生物学信息,从而更好地理解信号的级联传递以产生黑色素。这项研究表明,自生遗传资源可能是意想不到的遗传变异的有趣储库。
    The Greek Black Pig (or Greek Pig) is the only recognized autochthonous pig breed raised in Greece, usually in extensive or semi-extensive production systems. According to its name, the characteristic breed coat color is solid black. In this study, with the aim to start a systematic genetic characterization of the Greek Black Pig breed, we investigated polymorphisms in major genes well known to affect exterior and production traits (MC1R, KIT, NR6A1, VRTN and IGF2) and compared these data with population genetic information available in other Mediterranean and Western Balkan pig breeds and wild boars. None of the investigated gene markers were fixed for one allele, suggesting that, in the past, this breed experienced introgression from wild boars and admixture from cosmopolitan pig breeds, enriching the breed genetic pool that should be further investigated to design appropriate conservation genetic strategies. We identified a new MC1R allele, containing two missense mutations already reported in two other independent alleles, but here present in the same haplotype. This allele might be useful to disclose biological information that can lead to better understanding the cascade transmission of signals to produce melanin pigments. This study demonstrated that autochthonous genetic resources can be an interesting reservoir of unexpected genetic variants.
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