共查询到20条相似文献,搜索用时 31 毫秒
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Julia C. Cronin John Wunderlich Stacie K. Loftus Todd D. Prickett Xiaomu Wei Katie Ridd Swapna Vemula Allison S. Burrell Neena S. Agrawal Jimmy C. Lin Carolyn E. Banister Phillip Buckhaults Steven A. Rosenberg Boris C. Bastian William J. Pavan Yardena Samuels 《Pigment cell & melanoma research》2009,22(4):435-444
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Jessica L. Flesher Elyse K. Paterson‐Coleman Priya Vasudeva Rolando Ruiz‐Vega Michaela Marshall Eric Pearlman Grant R. MacGregor Jonathan Neumann Anand K. Ganesan 《Pigment cell & melanoma research》2020,33(2):279-292
MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini. It is not completely understood how these isoforms influence pigmentation in different tissues and how the expression of these independent isoforms of MITF is regulated. Here, we show that melanocytes express two isoforms of MITF, MITF‐A and MITF‐M. The expression of MITF‐A is partially regulated by a newly identified retinoid enhancer element located upstream of the MITF‐A promoter. Mitf‐A knockout mice have only subtle changes in melanin accumulation in the hair and reduced Tyr expression in the eye. In contrast, Mitf‐M‐null mice have enlarged kidneys, lack neural crest‐derived melanocytes in the skin, choroid, and iris stroma, yet maintain pigmentation within the retinal pigment epithelium and iris pigment epithelium of the eye. Taken together, these studies identify a critical role for MITF‐M in melanocytes, a minor role for MITF‐A in regulating pigmentation in the hair and Tyr expression in the eye, and a novel role for MITF‐M in size control of the kidney. 相似文献
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Rambow F Malek O Geffrotin C Leplat JJ Bouet S Piton G Hugot K Bevilacqua C Horak V Vincent-Naulleau S 《Pigment cell & melanoma research》2008,21(2):147-161
Partial and some few cases of complete spontaneous regression have been observed in cutaneous melanoma patients but little is known about the molecular mechanisms involved. The Melanoblastoma-bearing Libechov Minipig (MeLiM) is a suitable animal model to study the phenomenon of spontaneous regression because MeLiM pigs exhibit naturally occurring melanomas which regress completely 6 months after birth. In this study, we used suppression subtractive hybridization (SSH) to identify molecular determinants of melanoma regression within swine melanoma tissues and melanoma cell cultures. Several markers involved in cell-adhesion, -communication, -motility, signal transduction, negative regulation of cell proliferation, transport and immune response were identified that correlated with melanoma regression whereas the main genes involved in melanin synthesis showed a strong downregulation. For the most differentially expressed genes, we validated the results obtained by SSH with qRT-PCR and with immunohistochemistry for some of them (CD9, MITF, RARRES1). Most notable, for the first time in melanoma, we identified the retinoic acid responder 1 gene (RARRES1) as a main actor of the regression process in melanoma. This first gene expression study in swine melanoma regression, may contribute to the finding of new therapeutic targets for human melanoma treatment. 相似文献
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Marianne Berwick Jamie MacArthur Irene Orlow Peter Kanetsky Colin B. Begg Li Luo Anne Reiner Ajay Sharma Bruce K. Armstrong Anne Kricker Anne E. Cust Loraine D. Marrett Stephen B. Gruber Hoda Anton‐Culver Roberto Zanetti Stefano Rosso Richard P. Gallagher Terence Dwyer Alison Venn Klaus Busam Lynn From Kirsten White Nancy E. Thomas the GEM Study Group 《Pigment cell & melanoma research》2014,27(3):485-488
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Yao Yu Hao Hu Jiun-Sheng Chen Fulan Hu Jerry Fowler Paul Scheet Hua Zhao Chad D. Huff 《生物化学与生物物理学报:疾病的分子基础》2018,1864(6):2247-2254
While a number of genes have been implicated in melanoma susceptibility, the role of protein-coding variation in melanoma development and progression remains underexplored. To better characterize the role of germline coding variation in melanoma, we conducted a whole-exome case-control and somatic-germline interaction study involving 322 skin cutaneous melanoma cases from The Cancer Genome Atlas and 3607 controls of European ancestry. We controlled for cross-platform technological stratification using XPAT and conducted gene-based association tests using VAAST 2. Four established melanoma susceptibility genes achieved nominal statistical significance, MC1R (p?=?.0014), MITF (p?=?.0165) BRCA2 (p?=?.0206), and MTAP (p?=?.0393). We also observed a suggestive association for FANCA (p?=?.002), a gene previously implicated in melanoma survival. The association signal for BRCA2 was driven primarily by likely gene disrupting (LGD) variants, with an Odds Ratio (OR) of 5.62 (95% Confidence Interval (CI) 1.03–30.1). In contrast, the association signals for MC1R and MITF were driven primarily by predicted pathogenic missense variants, with estimated ORs of 1.4 to 3.0 for MC1R and 4.1 for MITF. MTAP exhibited an excess of both LGD and predicted damaging missense variants among cases, with ORs of 5.62 and 3.72, respectively, although neither category was significant. For individuals with known or predicted damaging variants, age of disease onset was significantly lower for two of the four genes, MC1R (p?=?.005) and MTAP (p?=?.035). In an analysis of germline carrier status and overlapping copy number alterations, we observed no evidence to support a two-hit model of carcinogenesis in any of the four genes. Although MC1R carriers were represented proportionally among the four molecular tumor subtypes, these individuals accounted for 69% of ultraviolet (UV) radiation mutational signatures among triple-wild type tumors (p?=?.040), highlighting the increased sensitivity to UV exposure among individuals with loss-of-function variants in MC1R. 相似文献
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Hypoxia-inducible factor 1{alpha} is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells
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Buscà R Berra E Gaggioli C Khaled M Bille K Marchetti B Thyss R Fitsialos G Larribère L Bertolotto C Virolle T Barbry P Pouysségur J Ponzio G Ballotti R 《The Journal of cell biology》2005,170(1):49-59