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Статті в журналах з теми "SNORD115"

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Автор: Grafiati

Опубліковано: 14 вересня 2021

Оновлено: 12 лютого 2022

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1

Falaleeva, Marina, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre de la Grange, Vahid Aslanzadeh, Daniel J. Driscoll, and Stefan Stamm. "Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome." Clinical Medicine Insights: Case Reports 6 (January 2013): CCRep.S11510. http://dx.doi.org/10.4137/ccrep.s11510.

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Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.

2

Falaleeva, Marina, Justin Surface, Manli Shen, Pierre de la Grange, and Stefan Stamm. "SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity." Gene 572, no. 2 (November 2015): 266–73. http://dx.doi.org/10.1016/j.gene.2015.07.023.

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3

DE ROO, A., B. FOETS, and J. VAN DEN OORD. "FRO 2014: The pathophysiologic role of SNORD115 and SNORD116 in late-onset Fuchs' endothelial corneal dystrophy." Acta Ophthalmologica 92 (August 20, 2014): 0. http://dx.doi.org/10.1111/j.1755-3768.2014.4663.x.

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4

Ronchetti, Domenica, Katia Todoerti, Giacomo Tuana, Luca Agnelli, Laura Mosca, Marta Lionetti, Sonia Fabris, et al. "The Expression Pattern of Small Nucleolar and Small Cajal Body-Specific RNAs Characterizes Distinct Molecular Subtypes of Multiple Myeloma." Blood 120, no. 21 (November 16, 2012): 3955. http://dx.doi.org/10.1182/blood.v120.21.3955.3955.

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Abstract Abstract 3955 Small nucleolar RNAs (snoRNAs) and small Cajal body-specific RNAs (scaRNAs) are non-coding RNAs involved in the maturation of other RNA molecules and generally located in the introns of host genes. It is an emerging evidence that altered sno/scaRNAs expression may play a pathological role in cancer. Impaired sno/scaRNAs expression has recently been reported both in acute leukemia and smoldering myeloma that rapidly progressed to symptomatic disease. In addition, as regards multiple myeloma (MM), very recent data suggested an oncogenic role for SCARNA22 in those MM patients over-expressing SCARNA22/MMSET as a result of t(4;14) translocation. However, comprehensive information concerning the expression behavior of sno/scaRNAs in MM is still lacking. This study elucidates the patterns of sno/scaRNAs expression in MM by profiling purified malignant plasma cells from 55 MMs, 8 secondary plasma cell leukemias (sPCL) and 4 normal controls using Human Gene 1.0 ST arrays. Overall, a global sno/scaRNAs down-regulation was found in MMs and at more extent in sPCLs compared to normal plasma cells. Whereas SCARNA22 resulted the only sno/scaRNA characterizing the TC4 MM, TC2 group displayed a distinct sno/scaRNA signature overexpressing members of SNORD115 and SNORD116 families located in a region finely regulated by an imprinting center at 15q11 which, however, resulted overall hypomethylated in MMs independently of the SNORD115 and SNORD116 expression levels. In addition, impaired expression of sno/scaRNAs raised from the comparison between MM and sPCL, suggested a role in tumor progression. Furthermore, to uncover possible mechanisms at the basis of sno/scaRNAs deregulation, we investigated the correlation between sno/scaRNAs and the corresponding host-genes expression levels, outlining the coordinated expression of up to 50% of sno/scaRNAs/host-genes pairs. Finally, we investigated whether the sno/scaRNAs transcriptional pattern may be influenced by allelic imbalances involving their genomic location, as already demonstrated concerning mRNA expression, and revealed a dosage effect involving several chromosomal regions. Our data extend the current view of sno/scaRNAs deregulation in cancer and add novel information into the bio-molecular complexity of plasma cell dyscrasias. Furthermore, our findings may contribute to develop functional approaches to examine the activity of deregulated sno/scaRNAs in MM, as well as to further enlighten their possible role as targets of novel therapeutic agents. Disclosures: No relevant conflicts of interest to declare.

5

Glatt-Deeley, Heather, Daria L. Bancescu, and Marc Lalande. "Prader–Willi syndrome, Snord115, and Htr2c editing." neurogenetics 11, no. 1 (August 4, 2009): 143–44. http://dx.doi.org/10.1007/s10048-009-0209-x.

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6

Bortolin-Cavaille, M. L., and J. Cavaille. "The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs." Nucleic Acids Research 40, no. 14 (April 11, 2012): 6800–6807. http://dx.doi.org/10.1093/nar/gks321.

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7

Davies, Jennifer R., Lawrence S. Wilkinson, Anthony R. Isles, and Trevor Humby. "Prader–Willi syndrome imprinting centre deletion mice have impaired baseline and 5-HT2CR-mediated response inhibition." Human Molecular Genetics 28, no. 18 (May 14, 2019): 3013–23. http://dx.doi.org/10.1093/hmg/ddz100.

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Abstract Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by deletion or inactivation of paternally expressed imprinted genes on human chromosome 15q11–q13. In addition to endocrine and developmental issues, PWS presents with behavioural problems including stereotyped behaviour, impulsiveness and cognitive deficits. The PWS genetic interval contains several brain-expressed small nucleolar (sno) RNA species that are subject to genomic imprinting, including snord115 that negatively regulates post-transcriptional modification of the serotonin 2C receptor (5-HT2CR) pre-mRNA potentially leading to a reduction in 5-HT2CR function. Using the imprinting centre deletion mouse model for PWS (PWSICdel) we have previously shown impairments in a number of behaviours, some of which are abnormally sensitive to 5-HT2CR-selective drugs. In the stop-signal reaction time task test of impulsivity, PWSICdel mice showed increased impulsivity relative to wild-type (WT) littermates. Challenge with the selective 5-HT2CR agonist WAY163909 reduced impulsivity in PWSICdel mice but had no effect on WT behaviour. This behavioural dissociation in was also reflected in differential patterns of immunoreactivity of the immediate early gene c-Fos, with a blunted response to the drug in the orbitofrontal cortex of PWSICdel mice, but no difference in c-Fos activation in the nucleus accumbens. These findings suggest specific facets of response inhibition are impaired in PWSICdel mice and that abnormal 5-HT2CR function may mediate this dissociation. These data have implications for our understanding of the aetiology of PWS-related behavioural traits and translational relevance for individuals with PWS who may seek to control appetite with the new obesity treatment 5-HT2CR agonist lorcaserin.

8

Kocher, Matthew A., Fenix W. Huang, Erin Le, and Deborah J. Good. "Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome." Human Molecular Genetics 30, no. 12 (April 15, 2021): 1101–10. http://dx.doi.org/10.1093/hmg/ddab103.

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Abstract The smallest genomic region causing Prader-Willi Syndrome (PWS) deletes the non-coding RNA SNORD116 cluster; however, the function of SNORD116 remains a mystery. Previous work in the field revealed the tantalizing possibility that expression of NHLH2, a gene previously implicated in both obesity and hypogonadism, was downregulated in PWS patients and differentiated stem cells. In silico RNA: RNA modeling identified several potential interaction domains between SNORD116 and NHLH2 mRNA. One of these interaction domains was highly conserved in most vertebrate NHLH2 mRNAs examined. A construct containing the Nhlh2 mRNA, including its 3’-UTR, linked to a c-myc tag was transfected into a hypothalamic neuron cell line in the presence and absence of exogenously-expressed Snord116. Nhlh2 mRNA expression was upregulated in the presence of Snord116 dependent on the length and type of 3’UTR used on the construct. Furthermore, use of actinomycin D to stop new transcription in N29/2 cells demonstrated that the upregulation occurred through increased stability of the Nhlh2 mRNA in the 45 minutes immediately following transcription. In silico modeling also revealed that a single nucleotide variant (SNV) in the NHLH2 mRNA could reduce the predicted interaction strength of the NHLH2:SNORD116 diad. Indeed, use of an Nhlh2 mRNA construct containing this SNV significantly reduces the ability of Snord116 to increase Nhlh2 mRNA levels. For the first time, these data identify a motif and mechanism for SNORD116-mediated regulation of NHLH2, clarifying the mechanism by which deletion of the SNORD116 snoRNAs locus leads to PWS phenotypes.

9

Langouët, Maéva, Dea Gorka, Clarisse Orniacki, Clémence M. Dupont-Thibert, Michael S. Chung, Heather R. Glatt-Deeley, Noelle Germain, et al. "Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons." Human Molecular Genetics 29, no. 19 (September 25, 2020): 3285–95. http://dx.doi.org/10.1093/hmg/ddaa210.

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Abstract Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity. This disorder is caused by the absence of paternally expressed gene products from chromosome 15q11–q13. We previously demonstrated that knocking out ZNF274, a Kruppel-associated box-A-domain zinc finger protein capable of recruiting epigenetic machinery to deposit the H3K9me3 repressive histone modification, can activate expression from the normally silent maternal allele of SNORD116 in neurons derived from PWS induced pluripotent stem cells (iPSCs). However, ZNF274 has many other targets in the genome in addition to SNORD116. Depleting ZNF274 will surely affect the expression of other important genes and disrupt other pathways. Here, we used CRISPR/Cas9 to delete ZNF274 binding sites at the SNORD116 locus to determine whether activation of the maternal copy of SNORD116 could be achieved without altering ZNF274 protein levels. We obtained similar activation of gene expression from the normally silenced maternal allele in neurons derived from PWS iPSCs, compared with ZNF274 knockout, demonstrating that ZNF274 is directly involved in the repression of SNORD116. These results suggest that interfering with ZNF274 binding at the maternal SNORD116 locus is a potential therapeutic strategy for PWS.

10

Zhang, Cong, Lian-mei Zhao, Hao Wu, Guo Tian, Su-li Dai, Ri-yang Zhao, and Bao-en Shan. "C/D-Box Snord105b Promotes Tumorigenesis in Gastric Cancer via ALDOA/C-Myc Pathway." Cellular Physiology and Biochemistry 45, no. 6 (2018): 2471–82. http://dx.doi.org/10.1159/000488265.

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Background/Aims: Small nucleolar RNAs (snoRNAs) play an important role in carcinogenesis. In this study, we identified a C/D box snoRNA, snord105b, and further investigated the function and mechanism of the snord105b in gastric cancer (GC). Methods: The expression level of snord105b in GC tissures, sera and cell lines were detected by qRT-PCR. Cell viability was assessed using MTS assay. Transwell and wound healing assay were performed to evaluate migration and invasion, and protein expression was examined by western blotting. ChIRP and MS analysis was used to seek for the special binding protein of snord105b. Results: The snord105b was upregulated and associated with tumor size, differentiation, and pathological stage in GC. Snord105b affected proliferation, migration and invasion in multiple GC cell lines. The oncoqenic activity of snord105b was also confirmed with in vivo data. Mechanistically, snord105b specifically bound to ALDOA and affected C-myc, which plays a key role in carcinogenesis and tumor development. Conclusion: Snord105b appears to be a novel oncogene and is clinically and functionally involved in the development of GC. Targeting snord105b and its pathway may provide new biomarkers or potential treatments for patients with GC.

11

Braicu, Cornelia, Alina-Andreea Zimta, Antonia Harangus, Ioana Iurca, Alexandru Irimie, Ovidiu Coza, and Ioana Berindan-Neagoe. "The Function of Non-Coding RNAs in Lung Cancer Tumorigenesis." Cancers 11, no. 5 (April 30, 2019): 605. http://dx.doi.org/10.3390/cancers11050605.

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Lung cancer is the most prevalent and deadliest cancer worldwide. A significant part of lung cancer studies is dedicated to the expression alterations of non-coding RNAs. The non-coding RNAs are transcripts that cannot be translated into proteins. While the study of microRNAs and siRNAs in lung cancer received a lot of attention over the last decade, highly efficient therapeutic option or the diagnostic methods based on non-coding RNAs are still lacking. Because of this, it is of utmost importance to direct future research on lung cancer towards analyzing other RNA types for which the currently available data indicates that are essential at modulating lung tumorigenesis. Through our review of studies on this subject, we identify the following non-coding RNAs as tumor suppressors: ts-46, ts-47, ts-101, ts-53, ts-3676, ts-4521 (tRNA fragments), SNORD116-26, HBII-420, SNORD15A, SNORA42 (snoRNAs), piRNA-like-163, piR-35127, the piR-46545 (piRNAs), CHIAP2, LOC100420907, RPL13AP17 (pseudogenes), and uc.454 (T-UCR). We also found non-coding RNAs with tumor-promoting function: tRF-Leu-CAG, tRNA-Leu, tRNA-Val (tRNA fragments), circ-RAD23B, circRNA 100146, circPVT1, circFGFR3, circ_0004015, circPUM1, circFLI1, circABCB10, circHIPK3 (circRNAs), SNORA42, SNORA3, SNORD46, SNORA21, SNORD28, SNORA47, SNORD66, SNORA68, SNORA78 (snoRNAs), piR-65, piR-34871, piR-52200, piR651 (piRNAs), hY4 5’ fragments (YRNAs), FAM83A-AS1, WRAP53, NKX2-1-AS1 (NATs), DUXAP8, SFTA1P (pseudogene transcripts), uc.338, uc.339 (T-UCRs), and hTERC.

12

Zahova, Simona, and Anthony Isles. "The Role of the Prader-Willi Syndrome Critical Interval for Epigenetic Regulation, Transcription and Phenotype." Epigenomes 2, no. 4 (October 18, 2018): 18. http://dx.doi.org/10.3390/epigenomes2040018.

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Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by loss of expression of the paternally inherited genes on chromosome 15q11.2-q13. However, the core features of PWS have been attributed to a critical interval (PWS-cr) within the 15q11.2-q13 imprinted gene cluster, containing the small nucleolar RNA (snoRNA) SNORD116 and non-coding RNA IPW (Imprinted in Prader-Willi) exons. SNORD116 affects the transcription profile of hundreds of genes, possibly via DNA methylation or post-transcriptional modification, although the exact mechanism is not completely clear. IPW on the other hand has been shown to specifically modulate histone methylation of a separate imprinted locus, the DLK1-DIO3 cluster, which itself is associated with several neurodevelopmental disorders with similarities to PWS. Here we review what is currently known of the molecular targets of SNORD116 and IPW and begin to disentangle their roles in contributing to the Prader-Willi Syndrome phenotype.

13

Pan, Xiaoyong, Lei Chen, Kai-Yan Feng, Xiao-Hua Hu, Yu-Hang Zhang, Xiang-Yin Kong, Tao Huang, and Yu-Dong Cai. "Analysis of Expression Pattern of snoRNAs in Different Cancer Types with Machine Learning Algorithms." International Journal of Molecular Sciences 20, no. 9 (May 2, 2019): 2185. http://dx.doi.org/10.3390/ijms20092185.

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Small nucleolar RNAs (snoRNAs) are a new type of functional small RNAs involved in the chemical modifications of rRNAs, tRNAs, and small nuclear RNAs. It is reported that they play important roles in tumorigenesis via various regulatory modes. snoRNAs can both participate in the regulation of methylation and pseudouridylation and regulate the expression pattern of their host genes. This research investigated the expression pattern of snoRNAs in eight major cancer types in TCGA via several machine learning algorithms. The expression levels of snoRNAs were first analyzed by a powerful feature selection method, Monte Carlo feature selection (MCFS). A feature list and some informative features were accessed. Then, the incremental feature selection (IFS) was applied to the feature list to extract optimal features/snoRNAs, which can make the support vector machine (SVM) yield best performance. The discriminative snoRNAs included HBII-52-14, HBII-336, SNORD123, HBII-85-29, HBII-420, U3, HBI-43, SNORD116, SNORA73B, SCARNA4, HBII-85-20, etc., on which the SVM can provide a Matthew’s correlation coefficient (MCC) of 0.881 for predicting these eight cancer types. On the other hand, the informative features were fed into the Johnson reducer and repeated incremental pruning to produce error reduction (RIPPER) algorithms to generate classification rules, which can clearly show different snoRNAs expression patterns in different cancer types. The analysis results indicated that extracted discriminative snoRNAs can be important for identifying cancer samples in different types and the expression pattern of snoRNAs in different cancer types can be partly uncovered by quantitative recognition rules.

14

Qi, Y., L. Purtell, M. Fu, L. Zhang, S. Zolotukhin, L. Campbell, and H. Herzog. "Hypothalamus Specific Re-Introduction of SNORD116 into Otherwise Snord116 Deficient Mice Increased Energy Expenditure." Journal of Neuroendocrinology 29, no. 10 (October 2017): e12457. http://dx.doi.org/10.1111/jne.12457.

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15

He, Jun-yan, Xin Liu, Zhen-hua Qi, Qi Wang, Wen-qing Lu, Qing-tong Zhang, Shu-ya He, and Zhi-dong Wang. "Small Nucleolar RNA, C/D Box 16 (SNORD16) Acts as a Potential Prognostic Biomarker in Colon Cancer." Dose-Response 18, no. 2 (April 1, 2020): 155932582091782. http://dx.doi.org/10.1177/1559325820917829.

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Colon cancer (CC) is considered one of the most common and lethal malignancies occurring both in male and female. Its widespread prevalence demonstrates the need for novel diagnostic and prognostic biomarkers for CC. Emerging evidence has shown that small nucleolar RNAs play critical roles in tumor development. In this study, we investigated the expression profile and functions of SNORD16 in CC. Our data showed that SNORD16, rather than its host gene (RPL4), was upregulated in CC cell lines. Compared to matched adjacent normal tissues, CC tissues showed higher SNORD16 expression levels, and no correlation was found between SNORD16 and RPL4. Patients with high SNORD16 expression levels had a worse prognosis, and multivariate analysis showed the high SNORD16 expression was an independent prognostic factor for CC. In vitro gain- and loss-of-function studies revealed that SNORD16 can promote cell growth, proliferation, migration, and invasion of CC cells by inhibiting apoptosis. These results suggested that SNORD16 has an oncogenic role in CC and might be a novel diagnostic and prognostic biomarker for CC.

16

Tan, Qiming, Kathryn J. Potter, Lisa Cole Burnett, Camila E. Orsso, Mark Inman, Davis C. Ryman, and Andrea M. Haqq. "Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion." Genes 11, no. 2 (January 25, 2020): 128. http://dx.doi.org/10.3390/genes11020128.

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We report a 17-year-old boy who met most of the major Prader–Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facial features. However, unlike many children with PWS, he had spontaneous onset of puberty and reached a tall adult stature without growth hormone replacement therapy. A phenotype-driven genetic analysis using exome sequencing identified a heterozygous microdeletion of 71 kb in size at chr15:25,296,613-25,367,633, genome build hg 19. This deletion does not affect the SNURF-SNRPN locus, but results in the loss of several of the PWS-associated non-coding RNA species, including the SNORD116 cluster. We compared with six previous reports of patients with PWS who carried small atypical deletions encompassing the snoRNA SNORD116 cluster. These patients share similar core symptoms of PWS while displaying some atypical features, suggesting that other genes in the region may make lesser phenotypic contributions. Altogether, these rare cases provide convincing evidence that loss of the paternal copy of the SNORD116 snoRNA is sufficient to cause most of the major clinical features of PWS.

17

Kocher, Matthew, and Deborah Good. "Phylogenetic Analysis of the SNORD116 Locus." Genes 8, no. 12 (November 30, 2017): 358. http://dx.doi.org/10.3390/genes8120358.

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18

Pace, Marta, Ilaria Colombi, Matteo Falappa, Andrea Freschi, Mojtaba Bandarabadi, Andrea Armirotti, Blanco María Encarnación, et al. "Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader–Willi syndrome." Human Molecular Genetics 29, no. 12 (May 18, 2020): 2051–64. http://dx.doi.org/10.1093/hmg/ddaa084.

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Abstract Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that is characterized by metabolic alteration and sleep abnormalities mostly related to rapid eye movement (REM) sleep disturbances. The disease is caused by genomic imprinting defects that are inherited through the paternal line. Among the genes located in the PWS region on chromosome 15 (15q11-q13), small nucleolar RNA 116 (Snord116) has been previously associated with intrusions of REM sleep into wakefulness in humans and mice. Here, we further explore sleep regulation of PWS by reporting a study with PWScrm+/p− mouse line, which carries a paternal deletion of Snord116. We focused our study on both macrostructural electrophysiological components of sleep, distributed among REMs and nonrapid eye movements. Of note, here, we study a novel electroencephalography (EEG) graphoelements of sleep for mouse studies, the well-known spindles. EEG biomarkers are often linked to the functional properties of cortical neurons and can be instrumental in translational studies. Thus, to better understand specific properties, we isolated and characterized the intrinsic activity of cortical neurons using in vitro microelectrode array. Our results confirm that the loss of Snord116 gene in mice influences specific properties of REM sleep, such as theta rhythms and, for the first time, the organization of REM episodes throughout sleep–wake cycles. Moreover, the analysis of sleep spindles present novel specific phenotype in PWS mice, indicating that a new catalog of sleep biomarkers can be informative in preclinical studies of PWS.

19

Liuksiala, T., K. J. Teittinen, K. Granberg, M. Heinäniemi, M. Annala, M. Mäki, M. Nykter, and O. Lohi. "Overexpression of SNORD114-3 marks acute promyelocytic leukemia." Leukemia 28, no. 1 (August 27, 2013): 233–36. http://dx.doi.org/10.1038/leu.2013.250.

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20

Baudier, Robin L., Kevin J. Zwezdaryk, Malwina Czarny-Ratajczak, Lauren H. Kodroff, Deborah E. Sullivan, and Elizabeth B. Norton. "Unique Transcriptome Changes in Peripheral B Cells Revealed by Comparing Age Groups From Naive or Vaccinated Mice, Including snoRNA and Cdkn2a." Journals of Gerontology: Series A 75, no. 12 (August 1, 2020): 2326–32. http://dx.doi.org/10.1093/gerona/glaa165.

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Abstract Aging is associated with a decline in immune function that is not fully understood including vaccine failure. Here we report transcriptomic analysis on B cells from naive or influenza-vaccinated mice of 3 ages: young (15–23 weeks), middle-aged (63–81 weeks), and old mice (103–119 weeks). Our goal was expression profiling of B cells by age and history of vaccination to identify novel changes at the transcriptome level. We observed waning vaccine responses with age. In B cell transcripts, age and vaccination history were both important with notable differences observed in conducted analyses (eg, principal component, gene set enrichment, differentially expressed [DE] genes, and canonical pathways). Only 39 genes were significantly DE with age irrespective of vaccine history. This included age-related changes to box C/D small nucleolar (sno) RNAs, Snord123 and Snord1a. Box C/D snoRNAs regulate rRNAs through methylation and are linked to neurodegenerative, inflammatory, and cancer diseases but not specifically B cells or age. Canonical pathway changes implicated with age irrespective of vaccination history included EIF2, mTOR signaling, p53, Paxillin, and Tec kinase signaling pathways as well as cell cycle checkpoint. Importantly, we identified DE genes and pathways that were progressively altered starting in middle-age (eg, signaling by Rho family GTPases) or only altered in middle-age (eg, sphingosine-1-phosphate signaling), despite minimal differences in the ability of these mice to respond to vaccination compared to younger mice. Our results indicate the importance of vaccination or immune stimulation and analyses of multiple age ranges for aging B cell studies and validate an experimental model for future studies.

21

Peffers, M. J., A. G. Dale, H. Clough, P. Dyer, J. Ellis, S. Tew, M. Caron, and T. Welting. "The role of SNORD116 in cartilage ageing and osteoarthritis." Osteoarthritis and Cartilage 28 (April 2020): S342—S343. http://dx.doi.org/10.1016/j.joca.2020.02.533.

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22

Helman, Guy, Angela N. Viaene, Asako Takanohashi, Marjolein Breur, Rebecca Berger, Sarah Woidill, John R. Cottrell, et al. "Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description." Journal of Child Neurology 36, no. 2 (September 28, 2020): 133–40. http://dx.doi.org/10.1177/0883073820958330.

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Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed paraffin-embedded tissue sections by hematoxylin and eosin, elastic van Gieson, and luxol fast blue. Immunohistochemistry stains against glial fibrillary acidic protein, proteolipid protein, phosphorylated neurofilament, CD31, alpha-interferon, LN3, and inflammatory markers were performed. Gross examination revealed dark tan/gray appearing white matter with widespread calcifications. Microscopy revealed a diffuse destructive process due to a vasculopathy with secondary ischemic lesions and mineralization. The vasculopathy involved clustered small vessels, resembling vascular malformations, and sporadic lymphocytic infiltration of vessel walls. The white matter was also diffusely abnormal, with concurrent loss of myelin and axons, tissue rarefaction with multifocal cystic degeneration, and the presence of foamy macrophages, secondary calcifications, and astrogliosis. The midbrain, pons, and cerebellum were diffusely involved. It is not understood why variants in SNORD118 result in a disorder that predominantly causes neurological disease and significantly disrupts the cerebral vasculature. Clinical and radiological benefit was recently reported in an LCC patient treated with Bevacizumab; it is important that these patients are rapidly diagnosed and trial of this treatment modality is considered in appropriate circumstances.

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Polex-Wolf, Joseph, Brian Y. H. Lam, Rachel Larder, John Tadross, Debra Rimmington, Fàtima Bosch, Verónica Jiménez Cenzano, et al. "Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome." Journal of Clinical Investigation 128, no. 3 (January 29, 2018): 960–69. http://dx.doi.org/10.1172/jci97007.

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Zieba, Jerzy, Jac Kee Low, Louise Purtell, Yue Qi, Lesley Campbell, Herbert Herzog, and Tim Karl. "Behavioural characteristics of the Prader–Willi syndrome related biallelic Snord116 mouse model." Neuropeptides 53 (October 2015): 71–77. http://dx.doi.org/10.1016/j.npep.2015.06.009.

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Shtaya, Anan, Frances Elmslie, Yanick Crow, and Samantha Hettige. "Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus." World Neurosurgery 125 (May 2019): 271–72. http://dx.doi.org/10.1016/j.wneu.2019.02.008.

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Fontana, P., M. Grasso, F. Acquaviva, E. Gennaro, M. L. Galli, M. Falco, F. Scarano, G. Scarano, and F. Lonardo. "SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly." Clinical Genetics 92, no. 4 (March 30, 2017): 440–43. http://dx.doi.org/10.1111/cge.13005.

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Adhikari, Anna, Nycole A. Copping, Beth Onaga, Michael C. Pride, Rochelle L. Coulson, Mu Yang, Dag H. Yasui, Janine M. LaSalle, and Jill L. Silverman. "Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome." Neurobiology of Learning and Memory 165 (November 2019): 106874. http://dx.doi.org/10.1016/j.nlm.2018.05.011.

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Jenkinson, Emma M., Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, et al. "Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts." Nature Genetics 48, no. 10 (August 29, 2016): 1185–92. http://dx.doi.org/10.1038/ng.3661.

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Wu, Yu, Wei qi Xu, Yi He, Guang zhen Cai, Xiao ping Chen, and Liang Chu. "Therapeutic potential of targeting SNORD126 in hepatocellular carcinoma." HPB 21 (2019): S372—S373. http://dx.doi.org/10.1016/j.hpb.2019.10.2012.

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Lin, Dahe, Qi Wang, Haiying Ran, Kai Liu, Yao Wang, Juanjuan Wang, Yazhen Liu, et al. "Abnormal Response to the Anorexic Effect of GHS-R Inhibitors and Exenatide in Male Snord116 Deletion Mouse Model for Prader-Willi Syndrome." Endocrinology 155, no. 7 (July 1, 2014): 2355–62. http://dx.doi.org/10.1210/en.2013-2083.

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Prader-Willi syndrome (PWS) is a genetic disease characterized by persistent hunger and hyperphagia. The lack of the Snord116 small nucleolar RNA cluster has been identified as the major contributor to PWS symptoms. The Snord116 deletion (Snord116del) mouse model manifested a subset of PWS symptoms including hyperphagia and hyperghrelinemia. In this study, male Snord116del mice were characterized and tested for their acute and chronic responses to anorexic substances related to the ghrelin pathway. In comparison with their wild-type littermates, the food intake rate of Snord116del mice was 14% higher when fed ad libitum, and 32% to 49% higher within 12 hours after fasting. Fasted Snord116del mice were less sensitive to the acute anorexic effect of competitive antagonist [d-Lys3]-GHRP6, YIL-781, and reverse agonist [d-Arg1,d-Phe5,d-Trp7,9,Leu11]-substance P (SPA) of ghrelin receptor GHS-R. All 3 GHS-R inhibitors failed to inhibit chronic food intake of either Snord116del or wild-type mice due to rapid adaptation. Although fasted Snord116del mice had normal sensitivity to the acute anorexic effect of glucagon-like peptide 1 receptor agonist exenatide, those fed ad libitum required a higher dose and more frequent delivery to achieve ∼15% suppression of long-term food intake in comparison with wild-type mice. Ghrelin, however, is unlikely to be essential for the anorexic effect of exenatide in fed mice, as shown by the fact that exenatide did not reduce ghrelin levels in fed mice and food intake of ghrelin−/− mice fed ad libitum could be suppressed by exenatide. In conclusion, this study suggests that GHS-R may not be an effective therapeutic target, and in contrast, exenatide may produce anorexic effect in PWS individuals.

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Livingston, John H., and Yanick J. Crow. "Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118." Journal of the Neurological Sciences 372 (January 2017): 443. http://dx.doi.org/10.1016/j.jns.2016.10.037.

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Bieth, Eric, Sanaa Eddiry, Véronique Gaston, Françoise Lorenzini, Alexandre Buffet, Françoise Conte Auriol, Catherine Molinas, et al. "Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome." European Journal of Human Genetics 23, no. 2 (June 11, 2014): 252–55. http://dx.doi.org/10.1038/ejhg.2014.103.

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Cruvinel, E., T. Budinetz, N. Germain, S. Chamberlain, M. Lalande, and K. Martins-Taylor. "Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs." Human Molecular Genetics 23, no. 17 (April 23, 2014): 4674–85. http://dx.doi.org/10.1093/hmg/ddu187.

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Rodriguez, Juan A., and Jeffrey M. Zigman. "Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia: the buck stops here?" Journal of Clinical Investigation 128, no. 3 (January 29, 2018): 900–902. http://dx.doi.org/10.1172/jci99725.

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Ding, Feng, Hong Hua Li, Shengwen Zhang, Nicola M. Solomon, Sally A. Camper, Pinchas Cohen, and Uta Francke. "SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice." PLoS ONE 3, no. 3 (March 5, 2008): e1709. http://dx.doi.org/10.1371/journal.pone.0001709.

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Machnikowska-Sokołowska, Magdalena, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, and Rafał Płoski. "Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome." Brain Sciences 10, no. 11 (November 18, 2020): 869. http://dx.doi.org/10.3390/brainsci10110869.

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Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

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Jenkinson, Emma M., Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C. Goosey, Yoann Rose, et al. "Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts." Nature Genetics 49, no. 2 (February 2017): 317. http://dx.doi.org/10.1038/ng0217-317b.

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Iwama, Kazuhiro, Takeshi Mizuguchi, Jun‐ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, et al. "Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts." Clinical Genetics 92, no. 2 (March 30, 2017): 180–87. http://dx.doi.org/10.1111/cge.12991.

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Griggs, Joanne L., Michael L. Mathai, and Puspha Sinnayah. "Caralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model." Brain and Behavior 8, no. 12 (October 23, 2018): e01102. http://dx.doi.org/10.1002/brb3.1102.

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Prior, L. J., L. Purtell, S. Duke, L. Campbell, A. Sainsbury, and H. Herzog. "Mouse model of Prader–Willi syndrome: The role of SNORD116 in the regulation of energy homeostasis." Obesity Research & Clinical Practice 4 (October 2010): S6. http://dx.doi.org/10.1016/j.orcp.2010.09.012.

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Qi, Y., L. Purtell, M. Fu, K. Sengmany, K. Loh, L. Zhang, S. Zolotukhin, A. Sainsbury, L. Campbell, and H. Herzog. "Ambient temperature modulates the effects of the Prader-Willi syndrome candidate gene Snord116 on energy homeostasis." Neuropeptides 61 (February 2017): 87–93. http://dx.doi.org/10.1016/j.npep.2016.10.006.

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42

Salminen, Iiro, Silven Read, Pete Hurd, and Bernard Crespi. "Does SNORD116 mediate aspects of psychosis in Prader-Willi syndrome? Evidence from a non-clinical population." Psychiatry Research 286 (April 2020): 112858. http://dx.doi.org/10.1016/j.psychres.2020.112858.

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Maltby, Vicki E., Rodney A. Lea, Karen A. Ribbons, Katherine A. Sanders, Daniel Kennedy, Myintzu Min, Rodney J. Scott, and Jeannette Lechner-Scott. "DNA methylation changes in CD4+ T cells isolated from multiple sclerosis patients on dimethyl fumarate." Multiple Sclerosis Journal - Experimental, Translational and Clinical 4, no. 3 (July 2018): 205521731878782. http://dx.doi.org/10.1177/2055217318787826.

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Background Dimethyl fumarate is an oral treatment for multiple sclerosis, whose mechanism of action is not fully understood. Objective To investigate the effects of dimethyl fumarate on DNA methylation in the CD4+ T cells of multiple sclerosis patients. Methods We performed Illumina EPIC arrays to investigate the DNA methylation profiles of CD4+ T cells derived from multiple sclerosis patients before and after dimethyl fumarate treatment. Results Treatment with dimethyl fumarate resulted in 97% of differentially methylated positions showing hypermethylation. Four genes, SNORD1A, SHTN1, MZB1 and TNF had a differentially methylated region located within the transcriptional start site. Conclusion This study investigates the effect of dimethyl fumarate on DNA methylation in multiple sclerosis patients.

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Vendramini, Elena, Marco Giordan, Emanuela Giarin, Barbara Michielotto, Grazia Fazio, Gianni Cazzaniga, Andrea Biondi, et al. "High expression of miR-125b-2 and SNORD116 noncoding RNA clusters characterize ERG-related B cell precursor acute lymphoblastic leukemia." Oncotarget 8, no. 26 (March 21, 2017): 42398–413. http://dx.doi.org/10.18632/oncotarget.16392.

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45

Zhang, Qian, Gerrit J. Bouma, Kristy McClellan, and Stuart Tobet. "Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader–Willi syndrome." International Journal of Developmental Neuroscience 30, no. 6 (June 2012): 479–85. http://dx.doi.org/10.1016/j.ijdevneu.2012.05.005.

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46

Rodie, M. E., M. A. V. Mudaliar, P. Herzyk, M. McMillan, M. Boroujerdi, S. Chudleigh, E. S. Tobias, and S. F. Ahmed. "Androgen-responsive non-coding small RNAs extend the potential of HCG stimulation to act as a bioassay of androgen sufficiency." European Journal of Endocrinology 177, no. 4 (October 2017): 339–46. http://dx.doi.org/10.1530/eje-17-0404.

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Background It is unclear whether a short-term change in circulating androgens is associated with changes in the transcriptome of the peripheral blood mononuclear cells (PBMC). Aims and methods To explore the effect of hCG stimulation on the PBMC transcriptome, 12 boys with a median age (range) of 0.7 years (0.3, 11.2) who received intramuscular hCG 1500u on 3 consecutive days as part of their investigations underwent transcriptomic array analysis on RNA extracted from peripheral blood mononuclear cells before and after hCG stimulation. Results Median pre- and post-hCG testosterone for the overall group was 0.7 nmol/L (<0.5, 6) and 7.9 nmol/L (<0.5, 31.5), respectively. Of the 12 boys, 3 (25%) did not respond to hCG stimulation with a pre and post median serum testosterone of <0.5 nmol/L and <0.5 nmol/L, respectively. When corrected for gene expression changes in the non-responders to exclude hCG effects, all 9 of the hCG responders consistently demonstrated a 20% or greater increase in the expression of piR-37153 and piR-39248, non-coding PIWI-interacting RNAs (piRNAs). In addition, of the 9 responders, 8, 6 and 4 demonstrated a 30, 40 and 50% rise, respectively, in a total of 2 further piRNAs. In addition, 3 of the responders showed a 50% or greater rise in the expression of another small RNA, SNORD5. On comparing fold-change in serum testosterone with fold-change in the above transcripts, a positive correlation was detected for SNORD5 (P = 0.01). Conclusions The identification of a dynamic and androgen-responsive PBMC transcriptome extends the potential value of the hCG test for the assessment of androgen sufficiency.

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McNeill, Nathan, Alessia Nasca, Aurelio Reyes, Benjamin Lemoine, Brandi Cantarel, Adeline Vanderver, Raphael Schiffmann, and Daniele Ghezzi. "Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo." Neurology Genetics 3, no. 4 (July 14, 2017): e162. http://dx.doi.org/10.1212/nxg.0000000000000162.

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Objective:To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC).Methods:Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity.Results:Whole-exome sequencing uncovered compound heterozygous mutations in EARS2, c.328G>A (p.G110S), and c.1045G>A (p.E349K). This gene has previously been implicated in the autosomal recessive leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). The p.G110S mutation has been found in multiple patients with LTBL. In silico analysis supported pathogenicity in the second variant. In vitro functional testing showed a significant mitochondrial dysfunction demonstrated by an ∼11% decrease in the oxygen consumption rate and ∼43% decrease in the maximum respiratory rate in the patient's skin fibroblasts compared with the control. EARS2 protein levels were reduced to 30% of normal controls in the patient's fibroblasts. These deficiencies were corrected by the expression of the wild-type EARS2 protein. However, a further unrelated genetic investigation of our patient revealed the presence of biallelic variants in a small nucleolar RNA (SNORD118) responsible for LCC.Conclusions:Here, we report seemingly pathogenic EARS2 mutations in a single patient with LCC with no biochemical or neuroimaging presentations of LTBL. This patient illustrates that variants with demonstrated impact on protein function should not necessarily be considered clinically relevant.ClinicalTrials.gov identifier:NCT00001671.

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Purtell, Louise, Yue Qi, Lesley Campbell, Amanda Sainsbury, and Herbert Herzog. "Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass." Translational Pediatrics 6, no. 2 (April 2017): 88–97. http://dx.doi.org/10.21037/tp.2017.03.06.

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Duker, Angela L., Blake C. Ballif, Erawati V. Bawle, Richard E. Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, et al. "Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome." European Journal of Human Genetics 18, no. 11 (June 30, 2010): 1196–201. http://dx.doi.org/10.1038/ejhg.2010.102.

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Bonomo, G., E. Monfrini, L. Borellini, R. Bonomo, F. Arienti, M. C. Saetti, A. Di Fonzo, and M. Locatelli. "Systemic involvement in adult‐onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene." European Journal of Neurology 27, no. 11 (June 2, 2020): 2329–32. http://dx.doi.org/10.1111/ene.14313.

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