Pigment Cell & Melanoma Research最新文献

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Cutaneous Pigment Cell Distributions and Skin Structure of Xenopus 爪蟾皮肤色素细胞分布与皮肤结构
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-05-06 DOI: 10.1111/pcmr.70022
Weizheng Liang, Chenyang Hou, Zhenpeng Zhu, Peng Wang, Xiran Wang, Zhongwu Li, Jun Xue, Rensen Ran
{"title":"Cutaneous Pigment Cell Distributions and Skin Structure of Xenopus","authors":"Weizheng Liang,&nbsp;Chenyang Hou,&nbsp;Zhenpeng Zhu,&nbsp;Peng Wang,&nbsp;Xiran Wang,&nbsp;Zhongwu Li,&nbsp;Jun Xue,&nbsp;Rensen Ran","doi":"10.1111/pcmr.70022","DOIUrl":"https://doi.org/10.1111/pcmr.70022","url":null,"abstract":"<p>Pigment cells not only are intrinsic factors to determine animal patterns, but also play vital roles in numerous behavioral and physiological processes as well as health, such as melanomas originating from melanocytes. Model organisms are commonly used to study pigment cell development and the mechanisms underlying related diseases, with zebrafish and mice, and <i>Xenopus</i> being well-established examples. <i>Xenopus tropicalis</i>, a diploid amphibian model, offers advantages such as high fecundity and easily observable pigment cell development. Recent advancements in gene-editing techniques have increased its prominence in research on pigment cell biology and melanoma pathogenesis. Here, we compare the skin pigment cell distribution as well as the skin structure in <i>X. tropicalis</i>, zebrafish, mice, and humans and point out the potential value of using <i>X. tropicalis</i> to model human skin diseases, such as melanoma.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BAP1 Loss Affords Lipotoxicity Resistance in Uveal Melanoma BAP1缺失导致葡萄膜黑色素瘤脂毒性抵抗
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-29 DOI: 10.1111/pcmr.70021
C. J. Cunanan, A. Amirfallah, A. B. Sanders, K. C. Gallant, M. R. Cavallo, E. A. Homer, O. S. El Naggar, J. K. Farnan, G. Romano, J. L. Hope, J. G. Jackson, E. J. Hartsough
{"title":"BAP1 Loss Affords Lipotoxicity Resistance in Uveal Melanoma","authors":"C. J. Cunanan,&nbsp;A. Amirfallah,&nbsp;A. B. Sanders,&nbsp;K. C. Gallant,&nbsp;M. R. Cavallo,&nbsp;E. A. Homer,&nbsp;O. S. El Naggar,&nbsp;J. K. Farnan,&nbsp;G. Romano,&nbsp;J. L. Hope,&nbsp;J. G. Jackson,&nbsp;E. J. Hartsough","doi":"10.1111/pcmr.70021","DOIUrl":"https://doi.org/10.1111/pcmr.70021","url":null,"abstract":"<p>Uveal melanoma (UM) is an aggressive intraocular malignancy. Despite effective control of primary tumors, ~50% of UM patients develop metastases, with the liver being the predominant secondary site. BAP1 deficiency, present in ~80% of metastatic UM cases, is strongly associated with increased metastatic risk and poor prognosis. In silico analysis of UM patient samples suggests that reduced BAP1 is linked to enhanced expression of genes involved in fatty acid processing; therefore, we hypothesize that BAP1 deficiency primes UM cells for survival in the hepatic microenvironment by enhancing lipid tolerance and oxidative stress responses. Our findings demonstrate BAP1-mutant UM resist lipotoxicity, whereas BAP1-competent UM exhibit sensitivity due to lipid peroxide accumulation—a hallmark of ferroptotic-like stress, and a response that can be mitigated by ferroptosis inhibition. Using an ex vivo liver slice model, we found that disrupting lipid metabolism with atorvastatin, an HMG-CoA reductase inhibitor, reduced tumor burden of BAP1-mutant UM. Moreover, we demonstrate a positive correlation between BAP1 and an epigenetic regulator of lipid homeostasis, ASXL2. Notably, ASXL2 depletion in BAP1-competent UM phenocopies the lipotoxicity resistance observed in BAP1-mutant UM—an effect that may be mediated by altered PPAR expression. This study reveals a novel mechanism linking BAP1 expression to lipid sensitivity via ASXL2, providing insights into liver tropism and potential therapeutic avenues for metastatic uveal melanoma.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality Analysis of Measurement Properties of Patient-Reported Outcome Measures for Vitiligo and of the Studies Assessing Them: A Systematic Review 白癜风患者报告结果测量指标及其评估研究的质量分析:系统性综述
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-21 DOI: 10.1111/pcmr.70014
Jolien Duponselle, Sandrine Herbelet, Liesbeth Delbaere, Zoë De Schryver, Caroline B. Terwee, Albert Wolkerstorfer, Julien Seneschal, Phyllis Spuls, Amit Garg, Iltefat Hamzavi, Reinhart Speeckaert, Nanja van Geel
{"title":"Quality Analysis of Measurement Properties of Patient-Reported Outcome Measures for Vitiligo and of the Studies Assessing Them: A Systematic Review","authors":"Jolien Duponselle,&nbsp;Sandrine Herbelet,&nbsp;Liesbeth Delbaere,&nbsp;Zoë De Schryver,&nbsp;Caroline B. Terwee,&nbsp;Albert Wolkerstorfer,&nbsp;Julien Seneschal,&nbsp;Phyllis Spuls,&nbsp;Amit Garg,&nbsp;Iltefat Hamzavi,&nbsp;Reinhart Speeckaert,&nbsp;Nanja van Geel","doi":"10.1111/pcmr.70014","DOIUrl":"https://doi.org/10.1111/pcmr.70014","url":null,"abstract":"<p>Evaluating measurement properties (MPs) of Patient Reported Outcome Measures (PROMs) in vitiligo is essential for evidence-based recommendations and identifying research gaps. This study assesses the quality of PROMs used in vitiligo. A systematic search of PubMed, Embase, and the Cochrane Library (up to 20 February 2024) included studies on PROM analysis or development, excluding those validating other tools. Quality assessments followed the COSMIN guidelines. PROMs with the highest number MPs rated sufficient (supported by moderate/high Quality of Evidence [QoE]) were reported per construct category, and information related to content validity specifically was provided. Forty articles on 24 PROMs (=161 MP studies) were analyzed. In the QoL group, the VIT, VLQI, VIP-FS, and ViPPO had the highest number of MPs rated sufficient (<i>n</i> = 3). For severity-related constructs, the Self-Assessment Vitiligo Extent Score (SA-VES) had the most MPs rated sufficient (<i>n</i> = 3). For treatment-related PROMs, the BMQ had the highest number MPs rated sufficient (<i>n</i> = 2). Content validity was limitedly assessed in 12 different PROMs. Comprehensive MP assessment and further validation of vitiligo PROMs are necessary to make definitive conclusions. These systematic reviews are registered at PROSPERO (CRD42020216338). Only English publications were included, which may limit the scope. Additionally, systematic searches conducted by different reviewers in consecutive updates may introduce subjectivity.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143857103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Dermoscopy Pattern in Nevus-Associated Melanomas 痣相关黑色素瘤的新皮肤镜检查模式
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-19 DOI: 10.1111/pcmr.70015
Nelson Lobos-Guede, Dan Hartmann, Valentina Darlic, Cristina Carrera, Llucia Alos, Susana Puig
{"title":"New Dermoscopy Pattern in Nevus-Associated Melanomas","authors":"Nelson Lobos-Guede,&nbsp;Dan Hartmann,&nbsp;Valentina Darlic,&nbsp;Cristina Carrera,&nbsp;Llucia Alos,&nbsp;Susana Puig","doi":"10.1111/pcmr.70015","DOIUrl":"https://doi.org/10.1111/pcmr.70015","url":null,"abstract":"<div>\u0000 \u0000 <p>Melanomas can appear <i>de novo</i> or in association with a pre-existing nevus. The association of melanomas with pre-existing nevi and its role as a melanoma precursor is a controversial issue. Dermoscopy can increase melanoma's diagnostic accuracy and help us suspect nevus-associated melanomas (NAM). Differentiating NAMs clinically and dermoscopically can be challenging. There are few published studies so far describing dermoscopic features of NAM that have differentiated from <i>de novo</i> melanomas, such as multi-component pattern, multifocal pigmentation, atypical pigment network, regression structures, negative pigment network, irregular globules, and streaks. Here, we report four acquired compound NAMs showing a starburst pattern (SP) within the lesion. No publications have reported NAMs with melanoma components in the form of SP arising within the center of the lesion. Therefore, when faced with a compound or intradermal nevus with incipient central reticulated pigmentation, especially if there is no history of trauma or previous surgery, we must pay alert to the possibility of an early development of melanoma.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143849105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurological Mechanisms Exploration and Therapeutic Targets in Segmental Vitiligo Accompanied by White Hair 节段性白癜风伴白发的神经机制探讨及治疗靶点
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-19 DOI: 10.1111/pcmr.70020
Shiqi Fu, Bo Xie, Xiuzu Song
{"title":"Neurological Mechanisms Exploration and Therapeutic Targets in Segmental Vitiligo Accompanied by White Hair","authors":"Shiqi Fu,&nbsp;Bo Xie,&nbsp;Xiuzu Song","doi":"10.1111/pcmr.70020","DOIUrl":"https://doi.org/10.1111/pcmr.70020","url":null,"abstract":"<p>Vitiligo is the most common skin depigmentation disease, affecting 0.1%–2% of people in the world. 3.5%–20.5% of segmental patients account for the total number of vitiligo patients. It has been clinically observed that segmental vitiligo patients are more likely to generate white hair, which may be related to neuroendocrine factors. The color of human skin and hair is affected by the number and functional status of melanocytes. Vitiligo affects patients' physical and mental health due to the shame it causes from the white patches and hair. This article reviews the underlying mechanisms of segmental vitiligo with white hair based on skin and hair follicle melanocytes. The article attempts to propose possible targets for the treatment of this disease.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143849276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
PURPL Represses Radiation-Induced Apoptosis to Promote Radioresistance in Cutaneous Melanoma by Direct Interfering With BID Cleavage PURPL 通过直接干扰 BID 分裂,抑制辐射诱导的细胞凋亡,从而增强皮肤黑色素瘤的抗辐射能力
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-14 DOI: 10.1111/pcmr.70018
Xue Li, Shuo Han, Xiaoting Liang, Jieyu Liu, Ke Wang, Yi Jin, Chunting Zhang, Minna Xu, Jiabin Liu, Li Ma, Liang Zhou
{"title":"PURPL Represses Radiation-Induced Apoptosis to Promote Radioresistance in Cutaneous Melanoma by Direct Interfering With BID Cleavage","authors":"Xue Li,&nbsp;Shuo Han,&nbsp;Xiaoting Liang,&nbsp;Jieyu Liu,&nbsp;Ke Wang,&nbsp;Yi Jin,&nbsp;Chunting Zhang,&nbsp;Minna Xu,&nbsp;Jiabin Liu,&nbsp;Li Ma,&nbsp;Liang Zhou","doi":"10.1111/pcmr.70018","DOIUrl":"https://doi.org/10.1111/pcmr.70018","url":null,"abstract":"<div>\u0000 \u0000 <p>The rise of radioresistance in treating cutaneous melanoma challenges the efficacy of radiotherapy. Transcriptomic sequencing highlights PURPL as one of the top upregulated long noncoding RNAs in response to ionizing radiation (IR) treatment in melanoma cells, suggesting its role in radioresistance. To explore such hypothesis, loss-of-function experiments were conducted to assess the impact of PURPL on melanoma cell viability, colony formation, and migration. Mechanistic studies using RNA pulldown identified BID as the interacting protein partner of PURPL. Further analysis explored the relationship among PURPL, BID, and Caspase-8 in the context of IR-induced DNA damage and apoptosis through loss-of- and gain-of-function experiments. The findings demonstrated that silencing PURPL significantly repressed melanoma cell viability, colony formation, migration, and invasiveness, indicating its potential role in promoting radioresistance. Moreover, PURPL was shown to repress IR-induced DNA damage and apoptosis, supporting its involvement in melanoma radioresistance. Mechanistically, PURPL inhibited the interaction between BID and Caspase-8, thereby modulating the mitochondrial apoptosis pathway and promoting radioresistance. In conclusion, this study provides evidence supporting the pro-radioresistance role of PURPL in melanoma. In vivo assays further corroborated the in vitro findings, highlighting the potential clinical relevance of targeting PURPL in radioresistant melanoma. By interfering with the association between BID and Caspase-8, PURPL may serve as a novel therapeutic target for clinical radiotherapy during the treatment of melanoma.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143831198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Oral Melanoma in Older Adults: Epidemiology, Molecular Landscape, and Treatment Strategies 老年人口腔黑色素瘤:流行病学、分子结构和治疗策略
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-14 DOI: 10.1111/pcmr.70017
José Alcides Almeida de Arruda, Victor Zanetti Drumond, Jefferson R. Tenório, Lucas Guimarães Abreu, Tarcília Aparecida Silva, Ricardo Alves Mesquita, Bruno Augusto Benevenuto de Andrade
{"title":"Oral Melanoma in Older Adults: Epidemiology, Molecular Landscape, and Treatment Strategies","authors":"José Alcides Almeida de Arruda,&nbsp;Victor Zanetti Drumond,&nbsp;Jefferson R. Tenório,&nbsp;Lucas Guimarães Abreu,&nbsp;Tarcília Aparecida Silva,&nbsp;Ricardo Alves Mesquita,&nbsp;Bruno Augusto Benevenuto de Andrade","doi":"10.1111/pcmr.70017","DOIUrl":"https://doi.org/10.1111/pcmr.70017","url":null,"abstract":"<p>Oral melanoma is an aggressive neoplasm arising from melanocytes in the mucosal epithelium, accounting for 0.2%–0.8% of all melanomas. Unlike cutaneous melanoma, it is not associated with UV exposure, and its pathogenesis involves complex genetic and molecular alterations. This neoplasm predominantly affects older adults (≥ 60 years). Clinically, lesions often present as macular or nodular with an exophytic growth pattern, sometimes ulcerated, and exhibit varied pigmentation. Diagnosis is further complicated by non-pigmented (amelanotic) variants that can resemble other oral pigmentations. Wide surgical excision remains the mainstay treatment, often combined with chemotherapy; however, recurrence and distant metastasis remain high. While immunotherapy has shown promise in other melanoma subtypes, its efficacy in oral melanoma remains uncertain. Treatment in older adults is particularly challenging due to comorbidities and treatment-related morbidity. This review summarizes the epidemiology, clinical features, and current treatment strategies for oral melanoma in older adults. Key advances in the molecular mechanisms underlying this neoplasm are also outlined. As a strategic approach, integrating oral melanoma screening into routine geriatric dental care, supported by diagnostic algorithms, may improve early detection, prognosis, and survival outcomes in this vulnerable population.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143831199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Melanoma and Matrimony: Retrospective Study of Demographics, Marital Status, and Clinical Features of Patients With Acral Melanoma at a Single Academic Center 黑色素瘤与婚姻:单一学术中心口腔黑色素瘤患者人口统计学、婚姻状况和临床特征的回顾性研究
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-11 DOI: 10.1111/pcmr.70019
Samantha Jo Albucker, Amar D. Desai, Julianne M. Falotico, Cynthia Magro, Silvia Mancebo, Shari R. Lipner
{"title":"Melanoma and Matrimony: Retrospective Study of Demographics, Marital Status, and Clinical Features of Patients With Acral Melanoma at a Single Academic Center","authors":"Samantha Jo Albucker,&nbsp;Amar D. Desai,&nbsp;Julianne M. Falotico,&nbsp;Cynthia Magro,&nbsp;Silvia Mancebo,&nbsp;Shari R. Lipner","doi":"10.1111/pcmr.70019","DOIUrl":"https://doi.org/10.1111/pcmr.70019","url":null,"abstract":"<div>\u0000 \u0000 <p>Acral melanoma (AM) is localized to the hands and feet including the palms, soles, fingers, toes, and nails, and is associated with a high degree of morbidity and mortality. It has a greater proportional incidence in non-White patients and is often diagnosed at later stages than other cutaneous melanomas. Our study aimed to analyze demographic and clinical features associated with AM to better inform screening and early detection. Demographic and clinical data of patients with histopathologically confirmed AM seen at Weill Cornell Medicine were collected (6/1/2005–7/20/2022). ANOVA and <i>t</i>-tests assessed differences in time-to-treatment and Breslow depth by demographics/characteristics. Ninety-five AMs were analyzed from 88 distinct patients, with a mean age of 62.48 years (range: 18–98), 63.6% females, and 62.5% non-Whites. Time-to-treatment was longer for White versus non-White patients (41.8 vs. 29.1 days, <i>p</i> = 0.0007), with a similar Breslow depth (White 1.29 mm vs. non-White 0.94 mm, <i>p</i> = 0.26). On average, single/widowed versus married patients had greater Breslow depth (1.53 mm vs. 1.00 mm, <i>p</i> = 0.0041), as did patients &gt; 65 versus ≤ 65 years (1.26 mm vs. 0.93 mm, <i>p</i> = 0.0022). Since we found that AM is more common in non-White versus White patients, we recommend increased education and screening among non-White individuals. Also, since single/widowed patients had greater Breslow depth than married patients, marriage may play a protective role in earlier cancer diagnosis, and enhanced melanoma education and screening, particularly targeting single individuals, could benefit patient outcomes.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143818674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage 两种酪氨酸酶样糖酶在确定鹦鹉羽毛最终色调中的作用
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70010
Shatadru Ghosh Roy, Jindřich Brejcha, Peter Mojzeš, Moty Abdu, Uri Abdu
{"title":"The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage","authors":"Shatadru Ghosh Roy,&nbsp;Jindřich Brejcha,&nbsp;Peter Mojzeš,&nbsp;Moty Abdu,&nbsp;Uri Abdu","doi":"10.1111/pcmr.70010","DOIUrl":"https://doi.org/10.1111/pcmr.70010","url":null,"abstract":"<p>Recent advances in avian melanogenesis have pinpointed multiple genetic loci associated with color polymorphisms, predominantly in the plumage of chickens, quails, and pigeons. However, the genetic basis of melaninization in parrot plumage remains elusive. Previously, we showed that mutations in the melanosomal ion-transporter SLC45A2 lead to a complete loss of blue structural color in green parrot feathers, leaving only yellow psittacofulvin. Yet, several color morphs involving partial or complete melanin reduction are common in captive-bred parrots that have not been studied. To bridge this gap, we investigated two new color morphs of parrot plumage: non-sex-linked recessive <i>lutino</i> (<i>NSL</i>), which entirely inhibits blue structural coloration, and the sex-linked recessive <i>cinnamon</i>, which reduces the intensity of blue structural coloration. Our genotypic analysis revealed that tyrosinase (TYR) variants are responsible for the <i>NSL</i> phenotype in Fischer's lovebird and green-cheeked parakeet, while tyrosinase related protein 1 (TYRP1) variants are associated with the <i>cinnamon</i> phenotype in the rose-ringed parakeet. When transfected into HEK293T cells, the candidate substitutions significantly affected tyrosinase enzymatic activity. This study underscores tyrosinase and related enzymes' role in parrot feather coloration, enhancing our understanding of avian melanogenesis as well as the conserved functions of melanogenic components across different species.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143793459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family 异常常染色体显性遗传4型皮肤白化病(OCA-4):来自一个中国家庭的临床和功能特征
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70013
Yingzi Zhang, Teng Liu, Qingsong Yang, Xuyun Hu, Wei Li, Aihua Wei
{"title":"Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family","authors":"Yingzi Zhang,&nbsp;Teng Liu,&nbsp;Qingsong Yang,&nbsp;Xuyun Hu,&nbsp;Wei Li,&nbsp;Aihua Wei","doi":"10.1111/pcmr.70013","DOIUrl":"https://doi.org/10.1111/pcmr.70013","url":null,"abstract":"<div>\u0000 \u0000 <p>Oculocutaneous albinism (OCA) is a complex genetic disorder characterized by reduced or absent pigmentation in the skin, hair, and eyes. Among the eight known subtypes, OCA-4 is caused by a mutation in <i>SLC45A2</i>, which plays a crucial role in melanin biosynthesis. While autosomal recessive inheritance is the most common pattern for all OCA subtypes, autosomal dominant cases are extremely rare. We report three patients from a Chinese family exhibiting autosomal dominant OCA-4. Clinical assessments evaluated pigmentation and ocular features in affected family members. Next-generation sequencing was performed to identify pathogenic variants, and functional studies in MNT-1 cells were performed to explore the variant's biological effects. Patients exhibited mild hypopigmentation and foveal hypoplasia, consistent with the OCA-4 phenotype. Genetic analysis identified a heterozygous c.208T&gt;C (p.Tyr70His) variant in <i>SLC45A2</i>, the same variant that has been previously reported in association with autosomal dominant OCA-4. Functional studies demonstrated that this variant caused protein retention in the endoplasmic reticulum, resulting in reduced melanin production. This family represents the first documented cases of autosomal dominant OCA-4 in the Chinese population and only the second reported worldwide. Our findings confirm that the p.Tyr70His variant causes autosomal dominant OCA-4. This study deepens our understanding of OCA-4's genetic mechanisms and increases the complexity of its inheritance patterns in genetic counseling.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143793395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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