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https://www.readbyqxmd.com/read/28381738/a-new-missense-mutation-in-the-paired-domain-of-the-mouse-pax3-gene
#1
Tamio Ohno, Tomoki Maegawa, Hiroto Katoh, Yuki Miyasaka, Miyako Suzuki, Misato Kobayashi, Fumihiko Horio
Mice with dominant white spotting occurred spontaneously in the C3.NSY-(D11Mit74-D11Mit229) strain. Linkage analysis indicated that the locus for white spotting was located in the vicinity of the Pax3 gene on chromosome 1. Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to those found in other Pax3 mutants. Sequence analysis identified a missense point mutation (c.101G>A) in exon 2 of Pax3 that resulted in a methionine to isoleucine conversion at amino acid 62 of the PAX3 protein...
April 6, 2017: Experimental Animals
https://www.readbyqxmd.com/read/28378394/fusion-gene-addiction-can-tumours-be-forced-to-give-up-the-habit
#2
Joanna L Selfe, Janet Shipley
Fusion of genes in tumours can have oncogenic roles in reprogramming cells through overexpression of oncogenes or the production of novel fusion proteins. A fundamental question in cancer biology is what genetic events are critical for initiation and whether these are also required for cancer progression. In recent work published in The Journal of Pathology, dependency on a fusion protein was addressed using a model of alveolar rhabdomyosarcomas - a sarcoma subtype with frequent fusion of PAX3 and FOXO1 genes that is associated with poor outcome...
April 5, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28341828/variants-in-the-host-genome-may-inhibit-tumour-growth-in-devil-facial-tumours-evidence-from-genome-wide-association
#3
Belinda Wright, Cali E Willet, Rodrigo Hamede, Menna Jones, Katherine Belov, Claire M Wade
Devil facial tumour disease (DFTD) has decimated wild populations of Tasmanian devils (Sarcophilus harrisii) due to its ability to avoid immune detection and pass from host to host by biting. A small number of devils have been observed to spontaneously recover from the disease which is otherwise fatal. We have sequenced the genomes of these rare cases and compared them to the genomes of devils who succumbed to the disease. Genome-wide association, based on this limited sampling, highlighted two key genomic regions potentially associated with ability to survive DFTD...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28339803/transcriptional-comparison-of-myogenesis-in-leghorn-and-low-score-normal-embryos
#4
J Griffin, N St-Pierre, M S Lilburn, M Wick
In a previous study, we reported on a quantitative transcriptomic method which confirmed the temporal transcription of developmental fast skeletal muscle myosin heavy chain (fsMyHC) embryonic isoforms in the embryonic Pectoralis major (PM) of the Single Comb White Leghorn (SCWL). The objective of the current study was to further investigate the transcriptional events underlying embryonic PM growth in the SCWL and a genotype exhibiting partial muscular dystrophy, the Low Score Normal (LSN). We hypothesized that within the SCWL and LSN embryos, there would be differences in the temporal transcription of the fsMyHC isoforms and other myogenic regulatory genes...
February 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28282952/a%C3%A2-frameshift%C3%A2-mutation%C3%A2-in%C3%A2-kit%C3%A2-is%C3%A2-associated%C3%A2-with%C3%A2-white%C3%A2-spotting%C3%A2-in%C3%A2-the%C3%A2-arabian%C3%A2-camel
#5
Heather Holl, Ramiro Isaza, Yasmin Mohamoud, Ayeda Ahmed, Faisal Almathen, Cherifi Youcef, Semir Gaouar, Douglas F Antczak, Samantha Brooks
While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with health disorders. Though mutations have been found in a diverse array of species, fewer than 30 genes have been associated with spotting patterns, thus providing a key set of candidate genes for the Arabian camel...
March 9, 2017: Genes
https://www.readbyqxmd.com/read/28279710/satellite-like-cells-contribute-to-pax7-dependent-skeletal-muscle-repair-in-adult-zebrafish
#6
Michael A Berberoglu, Thomas L Gallagher, Zachary T Morrow, Jared C Talbot, Kimberly J Hromowyk, Inês M Tenente, David M Langenau, Sharon L Amacher
Satellite cells, also known as muscle stem cells, are responsible for skeletal muscle growth and repair in mammals. Pax7 and Pax3 transcription factors are established satellite cell markers required for muscle development and regeneration, and there is great interest in identifying additional factors that regulate satellite cell proliferation, differentiation, and/or skeletal muscle regeneration. Due to the powerful regenerative capacity of many zebrafish tissues, even in adults, we are exploring the regenerative potential of adult zebrafish skeletal muscle...
April 15, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28253300/the-pax-gene-family-highlights-from-cephalopods
#7
Sandra Navet, Auxane Buresi, Sébastien Baratte, Aude Andouche, Laure Bonnaud-Ponticelli, Yann Bassaglia
Pax genes play important roles in Metazoan development. Their evolution has been extensively studied but Lophotrochozoa are usually omitted. We addressed the question of Pax paralog diversity in Lophotrochozoa by a thorough review of available databases. The existence of six Pax families (Pax1/9, Pax2/5/8, Pax3/7, Pax4/6, Paxβ, PoxNeuro) was confirmed and the lophotrochozoan Paxβ subfamily was further characterized. Contrary to the pattern reported in chordates, the Pax2/5/8 family is devoid of homeodomain in Lophotrochozoa...
2017: PloS One
https://www.readbyqxmd.com/read/28236341/ednrb-mutations-cause-waardenburg-syndrome-type-ii-in-the-heterozygous-state
#8
Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin, Veronique Pingault
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB...
May 2017: Human Mutation
https://www.readbyqxmd.com/read/28223217/pax3-inhibits-%C3%AE-tubulin-iii-expression-and-neuronal-differentiation-of-neural-stem-cell
#9
Sixian Cao, Jinfeng Du, Yan Lv, Hengrong Lin, Zuming Mao, Man Xu, Mei Liu, Yan Liu
PAX3 functions at the nodal point in neural stem cell maintenance and differentiation. Using bioinformatics methods, we identified PAX3 as a potential regulator of β-Tubulin-III (TUBB3) gene transcription, and the results indicated that PAX3 might be involved in neural stem cell (NSC) differentiation by orchestrating the expression of cytoskeletal proteins. In the present study, we reported that PAX3 could inhibit the differentiation of NSCs and the expression of TUBB3. Further, using luciferase and electrophoretic mobility shift assays, we demonstrated that PAX3 could bind to the promoter region of TUBB3 and inhibit TUBB3 transcription...
April 1, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28196803/neural-tube-closure-cellular-molecular-and-biomechanical-mechanisms
#10
REVIEW
Evanthia Nikolopoulou, Gabriel L Galea, Ana Rolo, Nicholas D E Greene, Andrew J Copp
Neural tube closure has been studied for many decades, across a range of vertebrates, as a paradigm of embryonic morphogenesis. Neurulation is of particular interest in view of the severe congenital malformations - 'neural tube defects' - that result when closure fails. The process of neural tube closure is complex and involves cellular events such as convergent extension, apical constriction and interkinetic nuclear migration, as well as precise molecular control via the non-canonical Wnt/planar cell polarity pathway, Shh/BMP signalling, and the transcription factors Grhl2/3, Pax3, Cdx2 and Zic2...
February 15, 2017: Development
https://www.readbyqxmd.com/read/28138962/pax3-foxo1-is-essential-for-tumour-initiation-and-maintenance-but-not-recurrence-in-a-human-myoblast-model-of-rhabdomyosarcoma
#11
Puspa R Pandey, Bishwanath Chatterjee, Mary E Olanich, Javed Khan, Markku M Miettinen, Stephen M Hewitt, Frederic G Barr
The PAX3-FOXO1 fusion gene is generated by a 2;13 chromosomal translocation and is a characteristic feature of an aggressive subset of rhabdomyosarcoma (RMS). To dissect the mechanism of oncogene action during RMS tumourigenesis and progression, doxycycline-inducible PAX3-FOXO1 and constitutive MYCN expression constructs were introduced into immortalized human myoblasts. Although myoblasts expressing PAX3-FOXO1 or MYCN alone were not transformed in focus formation assays, combined PAX3-FOXO1 and MYCN expression resulted in transformation...
April 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28102366/aurora-kinase-a-is-a-biomarker-for-bladder-cancer-detection-and-contributes-to-its-aggressive-behavior
#12
Aaron Mobley, Shizhen Zhang, Jolanta Bondaruk, Yan Wang, Tadeusz Majewski, Nancy P Caraway, Li Huang, Einav Shoshan, Guermarie Velazquez-Torres, Giovanni Nitti, Sangkyou Lee, June Goo Lee, Enrique Fuentes-Mattei, Daniel Willis, Li Zhang, Charles C Guo, Hui Yao, Keith Baggerly, Yair Lotan, Seth P Lerner, Colin Dinney, David McConkey, Menashe Bar-Eli, Bogdan Czerniak
The effects of AURKA overexpression associated with poor clinical outcomes have been attributed to increased cell cycle progression and the development of genomic instability with aneuploidy. We used RNA interference to examine the effects of AURKA overexpression in human bladder cancer cells. Knockdown had minimal effects on cell proliferation but blocked tumor cell invasion. Whole genome mRNA expression profiling identified nicotinamide N-methyltransferase (NNMT) as a downstream target that was repressed by AURKA...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069802/genomic-profiling-of-a-large-set-of-diverse-pediatric-cancers-identifies-known-and-novel-mutations-across-tumor-spectra
#13
Juliann Chmielecki, Mark Bailey, Jie He, Julia Elvin, Jo-Anne Vergilio, Shakti Ramkissoon, James Suh, Garrett M Frampton, James X Sun, Samantha Morley, Daniel Spritz, Siraj Ali, Laurie Gay, Rachel L Erlich, Jeffrey S Ross, Joana Buxhaku, Hilary Davies, Vinny Faso, Alexis Germain, Blair Glanville, Vincent A Miller, Philip J Stephens, Katherine A Janeway, John M Maris, Soheil Meshinchi, Trevor J Pugh, Jack F Shern, Doron Lipson
Pediatric cancers are generally characterized by low mutational burden and few recurrently mutated genes. Recent studies suggest that genomic alterations may help guide treatment decisions and clinical trial selection. Here, we describe genomic profiles from 1,215 pediatric tumors representing sarcomas, extracranial embryonal tumors, brain tumors, hematologic malignancies, carcinomas, and gonadal tumors. Comparable published datasets identified similar frequencies of clinically relevant alterations, validating this dataset as biologically relevant...
January 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28058850/molecular-diagnostics-in-the-management-of-rhabdomyosarcoma
#14
Michael A Arnold, Fredric G Barr
A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome than histologic classification. Identifying additional molecular hallmarks that further subclassify RMS is an active area of research. Areas Covered: The authors review the current state of the PAX3-FOXO1 and PAX7-FOXO1 fusions as prognostic biomarkers...
January 6, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28043919/a-spontaneous-and-novel-pax3-mutant-mouse-that-models-waardenburg-syndrome-and-neural-tube-defects
#15
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency. OBJECTIVE: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background...
April 5, 2017: Gene
https://www.readbyqxmd.com/read/28035744/impact-of-fusion-gene-status-versus-histology-on-risk-stratification-for-rhabdomyosarcoma-retrospective-analyses-of-patients-on-uk-trials
#16
Joanna Selfe, David Olmos, Reem Al-Saadi, Khin Thway, Julia Chisholm, Anna Kelsey, Janet Shipley
BACKGROUND: Long-term toxicities from current treatments are a major issue in paediatric cancer. Previous studies, including our own, have shown prognostic value for the presence of PAX3/7-FOXO1 fusion genes in rhabdomyosarcoma (RMS). It is proposed to introduce PAX3/7-FOXO1 positivity as a component of risk stratification, rather than alveolar histology, in future clinical trials. PROCEDURE: To assess the potential impact of this reclassification, we have determined the changes to risk category assignment of 210 histologically reviewed patients treated in the UK from previous malignant mesenchymal tumour clinical trials for non-metastatic RMS based on identification of PAX3/7-FOXO1 by fluorescence in situ hybridisation and/or reverse transcription PCR...
December 30, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28029168/trends-in-regenerative-medicine-repigmentation-in-vitiligo-through-melanocyte-stem-cell-mobilization
#17
REVIEW
Stanca A Birlea, Gertrude-E Costin, Dennis R Roop, David A Norris
Vitiligo is the most frequent human pigmentary disorder, characterized by progressive autoimmune destruction of mature epidermal melanocytes. Of the current treatments offering partial and temporary relief, ultraviolet (UV) light is the most effective, coordinating an intricate network of keratinocyte and melanocyte factors that control numerous cellular and molecular signaling pathways. This UV-activated process is a classic example of regenerative medicine, inducing functional melanocyte stem cell populations in the hair follicle to divide, migrate, and differentiate into mature melanocytes that regenerate the epidermis through a complex process involving melanocytes and other cell lineages in the skin...
December 28, 2016: Medicinal Research Reviews
https://www.readbyqxmd.com/read/28025671/retinoic-acid-maintains-human-skeletal-muscle-progenitor-cells-in-an-immature-state
#18
Marina El Haddad, Cécile Notarnicola, Brendan Evano, Nour El Khatib, Marine Blaquière, Anne Bonnieu, Shahragim Tajbakhsh, Gérald Hugon, Barbara Vernus, Jacques Mercier, Gilles Carnac
Muscle satellite cells are resistant to cytotoxic agents, and they express several genes that confer resistance to stress, thus allowing efficient dystrophic muscle regeneration after transplantation. However, once they are activated, this capacity to resist to aggressive agents is diminished resulting in massive death of transplanted cells. Although cell immaturity represents a survival advantage, the signalling pathways involved in the control of the immature state remain to be explored. Here, we show that incubation of human myoblasts with retinoic acid impairs skeletal muscle differentiation through activation of the retinoic-acid receptor family of nuclear receptor...
May 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28017376/myogenic-potential-of-mouse-embryonic-stem-cells-lacking-functional-pax7-tested-in-vitro-by-5-azacitidine-treatment-and-in-vivo-in-regenerating-skeletal-muscle
#19
Anita Helinska, Maciej Krupa, Karolina Archacka, Areta M Czerwinska, Wladyslawa Streminska, Katarzyna Janczyk-Ilach, Maria A Ciemerych, Iwona Grabowska
Regeneration of skeletal muscle relies on the presence of satellite cells. Satellite cells deficiency accompanying some degenerative diseases is the reason for the search for the "replacement cells" that can be used in the muscle therapies. Due to their unique properties embryonic stem cells (ESCs), as well as myogenic cells derived from them, are considered as a promising source of therapeutic cells. Among the factors crucial for the specification of myogenic precursor cells is Pax7 that sustains proper function of satellite cells...
January 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/27984116/microrna-and-gene-co-expression-networks-characterize-biological-and-clinical-behavior-of-rhabdomyosarcomas
#20
Edoardo Missiaglia, Chris J Shepherd, Ewa Aladowicz, David Olmos, Joanna Selfe, Gaëlle Pierron, Olivier Delattre, Zoe Walters, Janet Shipley
Rhabdomyosarcomas (RMS) in children and adolescents are heterogeneous sarcomas broadly defined by skeletal muscle features and the presence/absence of PAX3/7-FOXO1 fusion genes. MicroRNAs are small non-coding RNAs that regulate gene expression in a cell context specific manner. Sequencing analyses of microRNAs in 64 RMS revealed expression patterns separating skeletal muscle, fusion gene positive and negative RMS. Integration with parallel gene expression data assigned biological functions to 12 co-expression networks/modules that reassuringly included myogenic roles strongly correlated with microRNAs known in myogenesis and RMS development...
January 28, 2017: Cancer Letters
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