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Santosh C Narwade, Birendra N Mallick, Deepti D Deobagkar
Sleep disorders are associated with cognitive impairment. Selective rapid eye movement sleep (REMS) deprivation (REMSD) alters several physiological processes and behaviors. By employing NGS platform we carried out transcriptomic analysis in brain samples of control rats and those exposed to REMSD. The expression of genes involved in chromatin assembly, methylation, learning, memory, regulation of synaptic transmission, neuronal plasticity and neurohypophysial hormone synthesis were altered. Increased transcription of BMP4, DBH and ATP1B2 genes after REMSD supports our earlier findings and hypothesis...
2017: Frontiers in Molecular Neuroscience
Geraldine Aubert, Kevin A Strauss, Peter M Lansdorp, Nicholas L Rider
BACKGROUND: Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder." RMRP binds the telomerase reverse transcriptase (catalytic subunit) in some cell lines, raising the possibility that RMRP might play a role in telomere biology. OBJECTIVE: We sought to determine whether a telomere phenotype is present in immune cells from patients with CHH and explore mechanisms underlying these observations...
January 23, 2017: Journal of Allergy and Clinical Immunology
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
Jimena Barraza-García, Carlos I Rivera-Pedroza, Alfonso Hisado-Oliva, Alberta Belinchón-Martínez, Lucia Sentchordi-Montané, Emma L Duncan, Graeme R Clark, Angela Del Pozo, Kristina Ibáñez-Garikano, Amaka Offiah, Pablo Prieto-Matos, Valerie Cormier-Daire, Karen E Heath
POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected...
January 9, 2017: Clinical Genetics
Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit, but the influence of RMRP mutations on telomere length is unknown. We measured relative telomere length (RTL) in patients with CHH, their first-degree relatives and healthy controls and correlated RTL with clinical and laboratory features...
December 16, 2016: Journal of Medical Genetics
Qingjun Meng, Mingming Ren, Yanguang Li, Xiang Song
Accumulating studies have demonstrated that long noncoding RNAs (lncRNAs) act a crucial role in the development of tumors. However, the role of lncRNAs in lung cancer remains largely unknown. In this study, we demonstrated that theexpression of RMRP was upregulated in lung adenocarcinoma tissues compared to the matched adjacent normal tissues. Moreover, of 35 lung adenocarcinoma samples, RMRP expression was upregulated in 25 cases (25/35; 71.4%) compared to the adjacent normal tissues. We also showed that RMRP expression was upregulated in lung adenocarcinoma cell lines (A549, SPC-A1, H1299 and H23) compared to the bronchial epithelial cell line (16HBE)...
2016: PloS One
Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
Mehdi Pirouz, Peng Du, Marzia Munafò, Richard I Gregory
Mutations in the 3'-5' exonuclease DIS3L2 are associated with Perlman syndrome and hypersusceptibility to Wilms tumorigenesis. Previously, we found that Dis3l2 specifically recognizes and degrades uridylated pre-let-7 microRNA. However, the widespread relevance of Dis3l2-mediated decay of uridylated substrates remains unknown. Here, we applied an unbiased RNA immunoprecipitation strategy to identify Dis3l2 targets in mouse embryonic stem cells. The disease-associated long noncoding RNA (lncRNA) Rmrp, 7SL, as well as several other Pol III-transcribed noncoding RNAs (ncRNAs) were among the most highly enriched Dis3l2-bound RNAs...
August 16, 2016: Cell Reports
Siham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri, Nidal Alaoui Mrani, Gen Nishimura, Abdelaziz Sefiani
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly...
September 2016: American Journal of Medical Genetics. Part A
Simona Greco, Germana Zaccagnini, Alessandra Perfetti, Paola Fuschi, Rea Valaperta, Christine Voellenkle, Serenella Castelvecchio, Carlo Gaetano, Nicoletta Finato, Antonio Paolo Beltrami, Lorenzo Menicanti, Fabio Martelli
BACKGROUND: Long noncoding RNAs (lncRNAs) are non-protein coding transcripts regulating a variety of physiological and pathological functions. However, their implication in heart failure is still largely unknown. The aim of this study is to identify and characterize lncRNAs deregulated in patients affected by ischemic heart failure. METHODS: LncRNAs were profiled and validated in left ventricle biopsies of 18 patients affected by non end-stage dilated ischemic cardiomyopathy and 17 matched controls...
June 18, 2016: Journal of Translational Medicine
Ji Heon Noh, Kyoung Mi Kim, Kotb Abdelmohsen, Je-Hyun Yoon, Amaresh C Panda, Rachel Munk, Jiyoung Kim, Jessica Curtis, Christopher A Moad, Christina M Wohler, Fred E Indig, Wilson de Paula, Dawood B Dudekula, Supriyo De, Yulan Piao, Xiaoling Yang, Jennifer L Martindale, Rafael de Cabo, Myriam Gorospe
Some mitochondrial long noncoding RNAs (lncRNAs) are encoded by nuclear DNA, but the mechanisms that mediate their transport to mitochondria are poorly characterized. Using affinity RNA pull-down followed by mass spectrometry analysis, we found two RNA-binding proteins (RBPs), HuR (human antigen R) and GRSF1 (G-rich RNA sequence-binding factor 1), that associated with the nuclear DNA-encoded lncRNA RMRP and mobilized it to mitochondria. In cultured human cells, HuR bound RMRP in the nucleus and mediated its CRM1 (chromosome region maintenance 1)-dependent export to the cytosol...
May 15, 2016: Genes & Development
Yongfu Shao, Meng Ye, Qier Li, Weiliang Sun, Guoliang Ye, Xinjun Zhang, Yunben Yang, Bingxiu Xiao, Junming Guo
Long noncoding RNAs (lncRNAs) play crucial roles in tumorigenesis. However, the mechanisms of most lncRNAs in cancers are largely unknown. Because the RNA component of mitochondrial RNA processing endoribonuclease (RMRP) is one of the dysregulated lncRNAs in gastric cancer, this study explored its molecular mechanisms in carcinogenesis. RMRP levels in 792 tissues, plasma and gastric juices from patients with various stages of gastric tumorigenesis were analyzed by quantitative reverse transcription-polymerase chain reaction...
June 21, 2016: Oncotarget
Wendy Huang, Dan R Littman
T-helper 17 (Th17) cells differentiate from naïve CD4(+) T cells in response to signals from commensal microbiota and produce cytokines critical for the integrity of mucosal barriers. These cells also disseminate throughout the body, and are key participants in numerous inflammatory processes. A key challenge is to elucidate the mechanisms that govern Th17 cell beneficial versus pathogenic functions, characterized by different cytokine profiles. Mucosal Th17 cells require the nuclear hormone receptor RORγt for their differentiation in draining lymph nodes...
2015: Cold Spring Harbor Symposia on Quantitative Biology
Dhanya Lakshmi Narayanan, Anju Shukla, Anju Rani Siddesh, Joshi Stephen, Priyanka Srivastava, Kausik Mandal, Shubha R Phadke
Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation, stressing the need to screen for this mutation in Indian population having features of cartilage-hair hypoplasia...
September 2016: Indian Journal of Pediatrics
Wendy Huang, Benjamin Thomas, Ryan A Flynn, Samuel J Gavzy, Lin Wu, Sangwon V Kim, Jason A Hall, Emily R Miraldi, Charles P Ng, Frank Rigo, Sarah Meadows, Nina R Montoya, Natalia G Herrera, Ana I Domingos, Fraydoon Rastinejad, Richard M Myers, Frances V Fuller-Pace, Richard Bonneau, Howard Y Chang, Oreste Acuto, Dan R Littman
No abstract text is available yet for this article.
May 5, 2016: Nature
Wendy Huang, Benjamin Thomas, Ryan A Flynn, Samuel J Gavzy, Lin Wu, Sangwon V Kim, Jason A Hall, Emily R Miraldi, Charles P Ng, Frank Rigo, Frank W Rigo, Sarah Meadows, Nina R Montoya, Natalia G Herrera, Ana I Domingos, Fraydoon Rastinejad, Richard M Myers, Frances V Fuller-Pace, Richard Bonneau, Howard Y Chang, Oreste Acuto, Dan R Littman
T helper 17 (TH17) lymphocytes protect mucosal barriers from infections, but also contribute to multiple chronic inflammatory diseases. Their differentiation is controlled by RORγt, a ligand-regulated nuclear receptor. Here we identify the RNA helicase DEAD-box protein 5 (DDX5) as a RORγt partner that coordinates transcription of selective TH17 genes, and is required for TH17-mediated inflammatory pathologies. Surprisingly, the ability of DDX5 to interact with RORγt and coactivate its targets depends on intrinsic RNA helicase activity and binding of a conserved nuclear long noncoding RNA (lncRNA), Rmrp, which is mutated in patients with cartilage-hair hypoplasia...
December 24, 2015: Nature
Jinjoo Park, Sunjoo Jeong
RMRP, the RNA component of mitochondrial RNA processing endoribonuclease, is a non-coding RNA (ncRNA) part of the RNase MRP complex functioning in mitochondrial and ribosomal RNA processing. Even though various mutations in the RMRP gene are linked to developmental defects and pathogenesis, its relevance to cancer etiology has not been well established. Here we examined the expression of RMRP and found a significant increase in colorectal and breast cancer patient tissues. So we tested whether the oncogenic signaling pathways, Wnt/β-catenin and Hippo/YAP pathways, are relevant to the enhanced expression of RMRP in cancer cells because of the predicted β-catenin/TCF and YAP/TBX5 elements in the upstream regions of the RMRP gene...
October 27, 2015: Oncotarget
Imane Cherkaoui Jaouad, Fatima Z Laarabi, Siham Chafai Elalaoui, Stanislas Lyonnet, Alexandra Henrion-Caude, Abdelaziz Sefiani
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by mutations in RMRP, which is transcribed as an RNA component of the mitochondrial RNA-processing ribonuclease. We report the clinical and molecular data of a Moroccan patient with CHH. Sequencing of RMRP identified 2 mutations in the patient: the known mutation g...
July 2015: Molecular Syndromology
Toshitsugu Fujita, Miyuki Yuno, Daisuke Okuzaki, Rieko Ohki, Hodaka Fujii
Accumulating evidence suggests that RNAs interacting with genomic regions play important roles in the regulation of genome functions, including X chromosome inactivation and gene expression. However, to our knowledge, no non-biased methods of identifying RNAs that interact with a specific genomic region have been reported. Here, we used enChIP-RNA-Seq, a combination of engineered DNA-binding molecule-mediated chromatin immunoprecipitation (enChIP) and RNA sequencing (RNA-Seq), to perform a non-biased search for RNAs interacting with telomeres...
2015: PloS One
Ulrike Dapunt, Thomas Giese, Susanne Maurer, Sabine Stegmaier, Birgit Prior, G Maria Hänsch, Matthias M Gaida
Bone infections of patients with joint replacement by endoprosthesis (so called "periprosthetic joint infection") pose a severe problem in the field of orthopedic surgery. The diagnosis is often difficult, and treatment is, in most cases, complicated and prolonged. Patients often require an implant exchange surgery, as the persistent infection and the accompanying inflammation lead to tissue damage with bone degradation and consequently, to a loosening of the implant. To gain insight into the local inflammatory process, expression of the proinflammatory cytokine MRP-14, a major content of neutrophils, and its link to subsequent bone degradation was evaluated...
October 2015: Journal of Leukocyte Biology
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