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https://www.readbyqxmd.com/read/28935672/the-dux4-homeodomains-mediate-inhibition-of-myogenesis-and-are-functionally-exchangeable-with-the-pax7-homeodomain
#1
Darko Bosnakovski, Erik A Toso, Lynn M Hartweck, Alessandro Magli, Heather A Lee, Eliza R Thompson, Abhijit Dandapat, Rita C R Perlingeiro, Michael Kyba
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein, DUX4. DUX4 has bimodal effects, inhibiting myogenic differentiation and blocking MyoD at low levels of expression, and killing myoblasts at high levels. Pax3 and Pax7, which contain related homeodomains, antagonize the cell death phenotype of DUX4 in C2C12 cells, suggesting some type of competitive interaction. Here, we show that effects on differentiation and MyoD expression require the homeodomains but do not require the C-terminal activation domain of DUX4...
September 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28924151/dna-methylomes-reveal-biological-networks-involved-in-human-eye-development-functions-and-associated-disorders
#2
María Berdasco, Antonio Gómez, Marcos J Rubio, Jaume Català-Mora, Vicente Zanón-Moreno, Miguel Lopez, Cristina Hernández, Shigeo Yoshida, Takahito Nakama, Keijiro Ishikawa, Tatsuro Ishibashi, Amina M Boubekeur, Lotfi Louhibi, Miguel A Pujana, Sergi Sayols, Fernando Setien, Dolores Corella, Carmen de Torres, Andreu Parareda, Jaume Mora, Ling Zhao, Kang Zhang, Matilde E Lleonart, Javier Alonso, Rafael Simó, Josep M Caminal, Manel Esteller
This work provides a comprehensive CpG methylation landscape of the different layers of the human eye that unveils the gene networks associated with their biological functions and how these are disrupted in common visual disorders. Herein, we firstly determined the role of CpG methylation in the regulation of ocular tissue-specification and described hypermethylation of retinal transcription factors (i.e., PAX6, RAX, SIX6) in a tissue-dependent manner. Second, we have characterized the DNA methylome of visual disorders linked to internal and external environmental factors...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28912564/transcriptome-analysis-of-developing-lens-reveals-abundance-of-novel-transcripts-and-extensive-splicing-alterations
#3
Rajneesh Srivastava, Gungor Budak, Soma Dash, Salil A Lachke, Sarath Chandra Janga
Lens development involves a complex and highly orchestrated regulatory program. Here, we investigate the transcriptomic alterations and splicing events during mouse lens formation using RNA-seq data from multiple developmental stages, and construct a molecular portrait of known and novel transcripts. We show that the extent of novelty of expressed transcripts decreases significantly in post-natal lens compared to embryonic stages. Characterization of novel transcripts into partially novel transcripts (PNTs) and completely novel transcripts (CNTs) (novelty score ≥ 70%) revealed that the PNTs are both highly conserved across vertebrates and highly expressed across multiple stages...
September 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28910750/analysis-of-methylation-profiling-data-of-hyperplasia-and-primary-and-metastatic-endometrial-cancers
#4
Xihai Wu, Jilan Miao, Jingyan Jiang, Fangmei Liu
OBJECTIVE: Endometrial cancer is a prevalent cancer, and its metastasis causes low survival rate. This study aims to utilize DNA methylation data to investigate the mechanism of the development and metastasis of endometrial cancer. STUDY DESIGN: Methylation profiling data were down-loaded from Gene Expression Omnibus, including 8 hyperplasias, 33 primary and 53 metastatic endometrial cancers. COHCAP package and annotation files were utilized to identify differentially methylated genes (DMGs) and CpG islands between the three different endometrial diseases...
September 1, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28906020/diagnostic-impact-of-anterior-segment-angiography-of-limbal-stem-cell-insufficiency-in-pax6-related-aniridia
#5
Barbara Käsmann-Kellner, Lorenz Latta, Fabian Fries, Arne Viestenz, Berthold Seitz
BACKGROUND: PAX6 is a master gene of ocular development and postnatal ocular equilibrium. Congenital aniridia is the hallmark of PAX6 gene haploinsufficiency (Chr. 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. Limbal stem cell insufficiency and corneal findings in PAX6 syndrome: There is congenital visual impairment with advancing loss of vision mainly due to secondary glaucoma and to corneal blindness caused by limbal stem cell insufficiency (LSCI)...
September 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28903537/evolutionary-origins-of-pax6-control-of-crystallin-genes
#6
Ales Cvekl, Yilin Zhao, Rebecca McGreal, Qing Xie, Xun Gu, Deyou Zheng
The birth of novel genes, including their cell-specific transcriptional control, is a major source of evolutionary innovation. The lens-preferred proteins, crystallins (vertebrates: α- and β/γ-crystallins), provide a gateway to study eye evolution. Diversity of crystallins was thought to originate from convergent evolution through multiple, independent formation of Pax6/PaxB-binding sites within the promoters of genes able to act as crystallins. Here, we propose that αB-crystallin arose from a duplication of small heat shock protein (Hspb1-like) gene accompanied by Pax6-site and heat shock element (HSE) formation, followed by another duplication to generate the αA-crystallin gene in which HSE was converted into another Pax6-binding site...
August 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28883798/eye-development-in-sepia-officinalis-embryo-what-the-uncommon-gene-expression-profiles-tell-us-about-eye-evolution
#7
Boudjema Imarazene, Aude Andouche, Yann Bassaglia, Pascal-Jean Lopez, Laure Bonnaud-Ponticelli
In metazoans, there is a remarkable diversity of photosensitive structures; their shapes, physiology, optical properties, and development are different. To approach the evolution of photosensitive structures and visual function, cephalopods are particularly interesting organisms due to their most highly centralized nervous system and their camerular eyes which constitute a convergence with those of vertebrates. The eye morphogenesis in numerous metazoans is controlled mainly by a conserved Retinal Determination Gene Network (RDGN) including pax, six, eya, and dac playing also key developmental roles in non-retinal structures and tissues of vertebrates and Drosophila...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28867550/neurotransmitter-switching-regulated-by-mirnas-controls-changes-in-social-preference
#8
Davide Dulcis, Giordano Lippi, Christiana J Stark, Long H Do, Darwin K Berg, Nicholas C Spitzer
Changes in social preference of amphibian larvae result from sustained exposure to kinship odorants. To understand the molecular and cellular mechanisms of this neuroplasticity, we investigated the effects of olfactory system activation on neurotransmitter (NT) expression in accessory olfactory bulb (AOB) interneurons during development. We show that protracted exposure to kin or non-kin odorants changes the number of dopamine (DA)- or gamma aminobutyric acid (GABA)-expressing neurons, with corresponding changes in attraction/aversion behavior...
September 13, 2017: Neuron
https://www.readbyqxmd.com/read/28867048/signaling-and-gene-regulatory-networks-in-mammalian-lens-development
#9
REVIEW
Ales Cvekl, Xin Zhang
Ocular lens development represents an advantageous system in which to study regulatory mechanisms governing cell fate decisions, extracellular signaling, cell and tissue organization, and the underlying gene regulatory networks. Spatiotemporally regulated domains of BMP, FGF, and other signaling molecules in late gastrula-early neurula stage embryos generate the border region between the neural plate and non-neural ectoderm from which multiple cell types, including lens progenitor cells, emerge and undergo initial tissue formation...
October 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28859078/the-wagr-syndrome-gene-prrg4-is-a-functional-homologue-of-the-commissureless-axon-guidance-gene
#10
Elizabeth D Justice, Sarah J Barnum, Thomas Kidd
WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the autistic symptoms of WAGR syndrome, but the molecular function of PRRG4 genes remains unknown. The Drosophila commissureless (comm) gene encodes a short transmembrane protein characterized by PY motifs, features that are shared by the PRRG4 protein. Comm intercepts the Robo axon guidance receptor in the ER/Golgi and targets Robo for degradation, allowing commissural axons to cross the CNS midline...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28853082/reprogramming-of-human-retinal-pigment-epithelial-cells-under-the-effect-of-bfgf-in-vitro
#11
E V Shafei, A M Kurinov, A V Kuznetsova, M A Aleksandrova
We studied the effect of bFGF on human retinal pigment epithelial cells in vitro In ARPE-19 cells, enhanced expression of KLF4 mRNA and reduced expression of PAX6, MITF, and OTX2 mRNA specific for retinal pigment epithelium were observed after bFGF application. The expression of KLF4 mRNA peaked in 72 h after bFGF application and then sharply decreased, which was accompanied by a 3-fold increase in TUBB3 mRNA expression (neuronal marker). Immunocytochemical analysis showed that in the presence of bFGF, some cells retained epithelial properties and showed positive staining for connexin-43, while others had long axon-like processes and demonstrated positive staining for βIII-tubulin, which attests to their neuronal transdifferentiation...
August 29, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28813430/reprogramming-human-gallbladder-cells-into-insulin-producing-%C3%AE-like-cells
#12
Feorillo Galivo, Eric Benedetti, Yuhan Wang, Carl Pelz, Jonathan Schug, Klaus H Kaestner, Markus Grompe
The gallbladder and cystic duct (GBCs) are parts of the extrahepatic biliary tree and share a common developmental origin with the ventral pancreas. Here, we report on the very first genetic reprogramming of patient-derived human GBCs to β-like cells for potential autologous cell replacement therapy for type 1 diabetes. We developed a robust method for large-scale expansion of human GBCs ex vivo. GBCs were reprogrammed into insulin-producing pancreatic β-like cells by a combined adenoviral-mediated expression of hallmark pancreatic endocrine transcription factors PDX1, MAFA, NEUROG3, and PAX6 and differentiation culture in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/28810579/microrna-375-targets-pax6-and-inhibits-the-viability-migration-and-invasion-of-human-breast-cancer-mcf-7-cells
#13
Qiongyan Zou, Wenjun Yi, Jianghai Huang, Fenfen Fu, Gannong Chen, Dewu Zhong
MicroRNAs (miRs) are a type of small non-coding RNA that serve crucial roles in the development and progression of breast cancer. However, the exact role and underlying molecular mechanism of miR-375 in mediating the growth and metastasis of breast cancer remains unknown. In the present study, reverse transcription-quantitative polymerase chain reaction and western blot analysis were conducted to examine RNA and protein expression. A luciferase reporter assay was performed to determine the association between miR-375 and paired box 6 (PAX6)...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28798684/differential-roles-of-environmental-enrichment-in-alzheimer-s-type-of-neurodegeneration-and-physiological-aging
#14
Vladimir V Salmin, Yulia K Komleva, Natalia V Kuvacheva, Andrey V Morgun, Elena D Khilazheva, Olga L Lopatina, Elena A Pozhilenkova, Konstantin A Shapovalov, Yulia A Uspenskaya, Alla B Salmina
Impairment of hippocampal adult neurogenesis in aging or degenerating brain is a well-known phenomenon caused by the shortage of brain stem cell pool, alterations in the local microenvironment within the neurogenic niches, or deregulation of stem cell development. Environmental enrichment (EE) has been proposed as a potent tool to restore brain functions, to prevent aging-associated neurodegeneration, and to cure neuronal deficits seen in neurodevelopmental and neurodegenerative disorders. Here, we report our data on the effects of environmental enrichment on hippocampal neurogenesis in vivo and neurosphere-forming capacity of hippocampal stem/progenitor cells in vitro...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28798362/a-large-family-with-inherited-optic-disc-anomalies-a-correlation-between-a-new-genetic-locus-and-complex-ocular-phenotypes
#15
Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao
Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28781074/activin-signals-through-smad2-3-to-increase-photoreceptor-precursor-yield-during-embryonic-stem-cell-differentiation
#16
Amy Q Lu, Evgenya Y Popova, Colin J Barnstable
In vitro differentiation of mouse embryonic stem cells (ESCs) into retinal fates can be used to study the roles of exogenous factors acting through multiple signaling pathways during retina development. Application of activin A during a specific time frame that corresponds to early embryonic retinogenesis caused increased generation of CRX(+) photoreceptor precursors and decreased PAX6(+) retinal progenitor cells (RPCs). Following activin A treatment, SMAD2/3 was activated in RPCs and bound to promoter regions of key RPC and photoreceptor genes...
September 12, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28765531/neuronal-patterning-of-the-tubular-collar-cord-is-highly-conserved-among-enteropneusts-but-dissimilar-to-the-chordate-neural-tube
#17
Sabrina Kaul-Strehlow, Makoto Urata, Daniela Praher, Andreas Wanninger
A tubular nervous system is present in the deuterostome groups Chordata (cephalochordates, tunicates, vertebrates) and in the non-chordate Enteropneusta. However, the worm-shaped enteropneusts possess a less complex nervous system featuring only a short hollow neural tube, whereby homology to its chordate counterpart remains elusive. Since the majority of data on enteropneusts stem from the harrimaniid Saccoglossus kowalevskii, putative interspecific variations remain undetected resulting in an unreliable ground pattern that impedes homology assessments...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28762648/directed-differentiation-of-human-embryonic-stem-cells-to-neural-crest-stem-cells-functional-peripheral-neurons-and-corneal-keratocytes
#18
Qian Zhu, Mingming Li, Chuan Yan, Qiqi Lu, Shunhui Wei, Rong Gao, Mengfei Yu, Yu Zou, Gopu Sriram, Huei J Tong, Walter Hunziker, Chaminda J Seneviratne, Zhiyuan Gong, Bjorn R Olsen, Tong Cao
Neural crest stem cells (NCSCs) are a transient and multipotent cell population giving rise to various cell types with clinical importance. Isolation of human NCSCs is extremely challenging that limits our knowledge about neural crest development and application. Here, a defined protocol to efficiently direct human embryonic stem cells (hESCs) to NCSCs and multiple neural crest lineages is presented. A unique combination of small molecule inhibitors and growth factors is employed to generate NCSCs from hESCs through a neuroectoderm stage...
August 1, 2017: Biotechnology Journal
https://www.readbyqxmd.com/read/28760551/experimental-assessment-of-novel-pax6-splicing-mutations-in-two-chinese-families-with-aniridia
#19
Qi Miao, Xiyuan Ping, Xiajing Tang, Li Zhang, Xin Zhang, Yalan Cheng, Xingchao Shentu
Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic defects of two Chinese families affected with aniridia, we recruited the family members and 200 ethnically matched controls. The entire exons and flanking intronic sequences of the PAX6 gene (NG_008679.1) were analyzed and effects of variants on splicing were assessed in silico and in vitro using exon trapping assay with pET01...
September 30, 2017: Gene
https://www.readbyqxmd.com/read/28754612/differentiation-potential-of-human-cd133-positive-hematopoietic-stem-cells-into-motor-neuron-like-cells-in-vitro
#20
Sepideh Alavi Moghaddam, Behnam Yousefi, Davood Sanooghi, Faezeh Faghihi, Nasim Hayati Roodbari, Nikoo Bana, Mohammad Taghi Joghataei, Paria Pooyan, Babak Arjmand
Spinal cord injuries and motor neuron-related disorders impact on life of many patients around the world. Since pharmacotherapy and surgical approaches were not efficient to regenerate these types of defects; stem cell therapy as a good strategy to restore the lost cells has become the focus of interest among the scientists. Umbilical cord blood CD133(+) hematopoietic stem cells (UCB- CD133(+) HSCs) with self- renewal property and neural lineage differentiation capacity are ethically approved cell candidate for use in regenerative medicine...
July 25, 2017: Journal of Chemical Neuroanatomy
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