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Maria Böhm, Marco Wachtel, Joana G Marques, Natalie Streiff, Dominik Laubscher, Paolo Nanni, Kamel Mamchaoui, Raffaella Santoro, Beat W Schäfer
A vast number of cancer genes are transcription factors that drive tumorigenesis as oncogenic fusion proteins. Although the direct targeting of transcription factors remains challenging, therapies aimed at oncogenic fusion proteins are attractive as potential treatments for cancer. There is particular interest in targeting the oncogenic PAX3-FOXO1 fusion transcription factor, which induces alveolar rhabdomyosarcoma (aRMS), an aggressive cancer of skeletal muscle cells for which patient outcomes remain dismal...
October 17, 2016: Journal of Clinical Investigation
Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
Fen Wei, Jie Chen, Xinye Chen, Baolong Bao
Flatfish with left-right eye asymmetry are the most significant among vertebrates. However, the genetic basis for the control of this characteristic is still unclear. We propose that the gene(s) for eye asymmetry initially control minor differences in cell number in the tissues around the eyes during development. This minor difference is then amplified, causing eye migration during metamorphosis. Therefore, comparing the neurula transcriptomes between flatfish species with different eye-reversal mutants may provide very useful information to screen for genes involved in eye asymmetry...
October 14, 2016: Gene
Ping Lu, Xiaolong Chen, Yun Feng, Qiao Zeng, Cizhong Jiang, Xianmin Zhu, Guoping Fan, Zhigang Xue
Fragile X syndrome (FXS) patients carry the expansion of over 200 CGG repeats at the promoter of fragile X mental retardation 1 (FMR1), leading to decreased or absent expression of its encoded fragile X mental retardation protein (FMRP). However, the global transcriptional alteration by FMRP deficiency has not been well characterized at single nucleotide resolution, i.e., RNA-seq. Here, we performed in-vitro neuronal differentiation of human induced pluripotent stem (iPS) cells that were derived from fibroblasts of a FXS patient (FXS-iPSC)...
October 11, 2016: Science China. Life Sciences
Shuang Jiao, Zhihao Wu, Xungang Tan, Yulei Sui, Lijuan Wang, Feng You
Although chromosome set manipulation techniques including polyploidy induction and gynogentic induction in flatfish are becoming increasingly mature, there exists a poor understanding of their effects on embryonic development. PAX3 plays crucial roles during embryonic myogenesis and neurogenesis. In olive flounder (Paralichthys olivaceus), there are two duplicated pax3 genes (pax3a, pax3b), and both of them are expressed in the brain and muscle regions with some subtle regional differences. We utilized pax3a and pax3b as indicators to preliminarily investigate whether chromosome set manipulation affects embryonic neurogenesis and myogenesis using whole-mount in situ hybridization...
September 27, 2016: Fish Physiology and Biochemistry
Gang Li, Qing-Shan Li, Wen-Bin Li, Jian Wei, Wen-Kai Chang, Zhi Chen, Hu-Yun Qiao, Ying-Wei Jia, Jiang-Hua Tian, Bing-Sheng Liang
Denervation often results in skeletal muscle atrophy. Different mechanisms seem to be involved in the determination between denervated slow and fast skeletal muscle atrophy. At the epigenetic level, miRNAs are thought to be highly involved in the pathophysiological progress of denervated muscles. We used miRNA microarrays to determine miRNA expression profiles from a typical slow muscle (soleus muscle) and a typical fast muscle (tibialis anterior muscle) at an early denervation stage in a rat model. Results showed that miR-206, miR-195, miR-23a, and miR-30e might be key factors in the transformation process from slow to fast muscle in denervated slow muscles...
August 2016: Neural Regeneration Research
Dong Guo, Jia Guo, Xiang Li, Feng Guan
Glycosylation of certain proteins at the mammalian cell surface is an essential event in carcinogenesis. Sialylation, one type of glycosylation, can act on multiple cell-behaviors, such as migration, growth, and malignant invasion. Two polysialyltransferases, ST8Sia II (STX) and ST8Sia IV (PST), are responsible for synthesis of polysialic acid on neural cell adhesion molecule. We showed previously that STX and PST are oppositely expressed in normal murine mammary gland cells undergoing transforming growth factor-β-induced epithelial-mesenchymal transition...
September 19, 2016: Experimental Biology and Medicine
Kishore Reddy Katikireddy, Thore Schmedt, Marianne O Price, Francis W Price, Ula V Jurkunas
Human corneal endothelial cells are derived from neural crest and because of postmitotic arrest lack competence to repair cell loss from trauma, aging, and degenerative disorders such as Fuchs endothelial corneal dystrophy (FECD). Herein, we identified a rapidly proliferating subpopulation of cells from the corneal endothelium of adult normal and FECD donors that exhibited features of neural crest-derived progenitor (NCDP) cells by showing absence of senescence with passaging, propensity to form spheres, and increased colony forming efficacy compared with the primary cells...
October 2016: American Journal of Pathology
Neia Naldaiz-Gastesi, María Goicoechea, Sonia Alonso-Martín, Ana Aiastui, Macarena López-Mayorga, Paula García-Belda, Jaione Lacalle, Carlos San José, Marcos J Araúzo-Bravo, Lidwine Trouilh, Véronique Anton-Leberre, Diego Herrero, Ander Matheu, Antonio Bernad, José Manuel García-Verdugo, Jaime J Carvajal, Frédéric Relaix, Adolfo Lopez de Munain, Patricia García-Parra, Ander Izeta
The dermal Panniculus carnosus (PC) muscle is important for wound contraction in lower mammals and represents an interesting model of muscle regeneration due to its high cell turnover. The resident satellite cells (the bona fide muscle stem cells) remain poorly characterized. Here we analyzed PC satellite cells with regard to developmental origin and purported function. Lineage tracing shows that they originate in Myf5(+), Pax3/Pax7(+) cell populations. Skin and muscle wounding increased PC myofiber turnover, with the satellite cell progeny being involved in muscle regeneration but with no detectable contribution to the wound-bed myofibroblasts...
September 13, 2016: Stem Cell Reports
Jacob M Loupe, Patrick J Miller, Benjamin P Bonner, Elaine C Maggi, Jyothi Vijayaraghavan, Jovanny Zabaleta, Christopher M Taylor, Fern Tsien, Judy S Crabtree, Andrew D Hollenbach
While many solid tumors are defined by the presence of a particular oncogene, the role that this oncogene plays in driving transformation through the acquisition of aneuploidy and overcoming growth arrest are often not known. Further, although aneuploidy is present in many solid tumors, it is not clear whether it is the cause or effect of malignant transformation. The childhood sarcoma, Alveolar Rhabdomyosarcoma (ARMS), is primarily defined by the t(2;13)(q35;q14) translocation, creating the PAX3-FOXO1 fusion protein...
August 30, 2016: Oncotarget
Anne-Laure Hafner, Julian Contet, Christophe Ravaud, Xi Yao, Phi Villageois, Kran Suknuntha, Karima Annab, Pascal Peraldi, Bernard Binetruy, Igor I Slukvin, Annie Ladoux, Christian Dani
Human induced pluripotent stem cells (hiPSCs) show great promise for obesity treatment as they represent an unlimited source of brown/brite adipose progenitors (BAPs). However, hiPSC-BAPs display a low adipogenic capacity compared to adult-BAPs when maintained in a traditional adipogenic cocktail. The reasons of this feature are unknown and hamper their use both in cell-based therapy and basic research. Here we show that treatment with TGFβ pathway inhibitor SB431542 together with ascorbic acid and EGF were required to promote hiPSCs-BAP differentiation at a level similar to adult-BAP differentiation...
2016: Scientific Reports
Katharina Fleck, Georg Erhardt, Gesine Lühken
Leucism is characterized by a complete or partial white skin and hair in combination with pigmented irides, which can be vivid blue or heterochromatic. This is due to a complete or partial lack of melanocytes. The underlying pathogenesis is a disturbed emigration or differentiation of neural crest-derived cells. Therefore, leucistic phenotypes can be associated with defects, which mainly impair sensory organs and nerves. In humans, a well-known example is the Waardenburg syndrome. Leucism-associated disorders were also described in mouse, rat, hamster, rabbit, mink, cat, dog, pig, sheep, llama, alpaca, cattle and horse...
July 2016: Berliner und Münchener Tierärztliche Wochenschrift
Hyun Kyung Kong, Sae Jeong Park, Ye Sol Kim, Kyoung Min Kim, Hyun-Woo Lee, Hyeok-Gu Kang, Yu Mi Woo, Eun Young Park, Je Yeong Ko, Hiromu Suzuki, Kyung-Hee Chun, Erwei Song, Kyu Yun Jang, Jong Hoon Park
The role of lymphocyte antigen 6 complex, locus K (LY6K) in breast cancer has been studied, whereas the epigenetic control of LY6K transcription is not fully understood. Here, we report that breast cancer patients with increased LY6K expression had shorter disease-free and overall survival than the patients with low levels of LY6K by multivariate analysis. LY6K also was upregulated in breast cancer patients with distant metastases than those without distant metastases, downregulating E-cadherin expression. Furthermore, xenograft tumor volumes from LY6K knockdown nude mice were reduced than those of mice treated with control lentivirus...
August 1, 2016: Oncotarget
Maciej Ciesla, Paulina Marona, Magdalena Kozakowska, Mateusz Jez, Marta Seczynska, Agnieszka Loboda, Karolina Bukowska-Strakova, Agata Szade, Magdalena Walawender, Magdalena Kusior, Jacek Stepniewski, Krzysztof Szade, Bart Krist, Oleksandr Yagensky, Aleksandra Urbanik, Bernarda Kazanowska, Jozef Dulak, Alicja Jozkowicz
Rhabdomyosarcoma (RMS) is an aggressive soft tissue cancer characterized by disturbed myogenic differentiation. Here we report a role for the oxidative stress response factor HO-1 in progression of RMS. We found that HO-1 was elevated and its effector target miR-206 decreased in RMS cell lines and clinical primary tumors of the more aggressive alveolar phenotype (aRMS). In embryonal RMS (eRMS), HO-1 expression was induced by Pax3/7-FoxO1, an aRMS hallmark oncogene, followed by a drop in miR-206 levels. Inhibition of HO-1 by tin protoporphyrin (SnPP) or siRNA downregulated Pax3/7-FoxO1 target genes and induced a myogenic program in RMS...
October 1, 2016: Cancer Research
Wei Liu, Fang Sui, Jiazhe Liu, Meichen Wang, Sijia Tian, Meiju Ji, Bingyin Shi, Peng Hou
Paired box 3 (PAX3) is expressed early during embryonic development in spatially restricted domains in the nervous system and in some mesodermally-derived structure. In recent years, it is found to be overexpressed in different types of cancer tissues and cell lines including glioblastomas, neuroblastomas, melanomas, rhabdomyosarcomas, Ewing sarcomas and gastric cancers, suggesting that it may function as an oncogene in these cancers. However, its role in thyroid cancer remains totally unclear. The aim of this study was to explore the functions and related molecular mechanism of PAX3 in thyroid tumorigenesis...
July 21, 2016: Oncotarget
Karen J Fritchie, Long Jin, Xiaoke Wang, Rondell P Graham, Michael S Torbenson, Jean E Lewis, Michael Rivera, Joaquin J Garcia, David J Schembri-Wismayer, Jennifer J Westendorf, Margaret M Chou, Jie Dong, Andre M Oliveira
BACKGROUND: Biphenotypic sinonasal sarcoma (SNS) is a locally aggressive tumor that occurs in the sinonasal region. PAX3-MAML3 has recently been identified as a recurrent fusion gene event in this entity, however, a subset of tumors harbors alternate PAX3 rearrangement without involving MAML3. DESIGN: Forty-four examples of SNS were screened by FISH and RT-PCR to better characterize its molecular profile and identify potential novel fusion genes. RESULTS: Twenty-four were positive for PAX3-MAML3 (55%), 15 showed rearrangements of PAX3 without MAML3 involvement (34%), 1 showed rearrangement of MAML3 without PAX3 involvement, and 4 were negative for the involvement of either gene (9%)...
July 25, 2016: Histopathology
Joanna Brzeszczyńska, Neil Johns, Alain Schilb, Simone Degen, Martin Degen, Ramon Langen, Annemie Schols, David J Glass, Ronenn Roubenoff, Carolyn A Greig, Carsten Jacobi, Kenneth Ch Fearon, James A Ross
Muscle wasting in old age or cancer may result from failed myofiber regeneration and/or accelerated atrophy. This study aimed to determine from transcriptomic analysis of human muscle the integrity of the cellular stress response system in relation to satellite cell differentiation or apoptosis in patients with cancer (weight-stable (CWS) or weight-losing (CWL)) or healthy elderly (HE) when compared with healthy middle-aged controls (HMA). 28 patients with cancer (CWS: 18 and CWL: 10), HE: 21 and HMA: 20 underwent biopsy of quadriceps muscle...
August 2016: Aging
J M Loupe, P J Miller, B P Bonner, E C Maggi, J Vijayaraghavan, J S Crabtree, C M Taylor, J Zabaleta, A D Hollenbach
Rhabdomyosarcoma, one of the most common childhood sarcomas, is comprised of two main subtypes, embryonal and alveolar (ARMS). ARMS, the more aggressive subtype, is primarily characterized by the t(2;13)(p35;p14) chromosomal translocation, which fuses two transcription factors, PAX3 and FOXO1 to generate the oncogenic fusion protein PAX3-FOXO1. Patients with PAX3-FOXO1-postitive tumors have a poor prognosis, in part due to the enhanced local invasive capacity of these cells, which leads to the increased metastatic potential for this tumor...
2016: Oncogenesis
Narendra Bharathy, Sudha Suriyamurthy, Vinay Kumar Rao, Jin Rong Ow, Huey Jin Lim, Payal Chakraborty, Madavan Vasudevan, Chetan Anil Dhamne, Kenneth Tou En Chang, Victor Lee Kwan Min, Tapas K Kundu, Reshma Taneja
Alveolar rhabdomyosarcoma (ARMS) is an aggressive paediatric cancer of skeletal muscle with poor prognosis. A PAX3-FOXO1 fusion protein acts as a driver of malignancy in ARMS by disrupting tightly coupled but mutually exclusive pathways of proliferation and differentiation. While PAX3-FOXO1 is an attractive therapeutic target, no current treatments are designed to block its oncogenic activity. The present work shows that the histone acetyltransferase P/CAF (KAT2B) is overexpressed in primary tumours from ARMS patients...
July 25, 2016: Journal of Pathology
Sonia Alonso-Martin, Anne Rochat, Despoina Mademtzoglou, Jessica Morais, Aurélien de Reyniès, Frédéric Auradé, Ted Hung-Tse Chang, Peter S Zammit, Frédéric Relaix
Skeletal muscle growth and regeneration require a population of muscle stem cells, the satellite cells, located in close contact to the myofiber. These cells are specified during fetal and early postnatal development in mice from a Pax3/7 population of embryonic progenitor cells. As little is known about the genetic control of their formation and maintenance, we performed a genome-wide chronological expression profile identifying the dynamic transcriptomic changes involved in establishment of muscle stem cells through life, and acquisition of muscle stem cell properties...
2016: Frontiers in Cell and Developmental Biology
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