OBJECTIVE: To evaluate the correlation of long non-coding RNA small nucleolar RNA host gene 1 (lnc-SNHG1) expression with clinical characteristics and prognosis in pediatric AML patients. METHODS: 209 newly diagnosed pediatric AML patients and 67 patients without malignant hematologic disease (as controls) who underwent bone marrow biopsy and with matched age and gender were enrolled in this study. The baseline characteristics of pediatric AML patients were recorded. Bone marrow samples from all the participants were collected before treatment, and lnc-SNHG1 expression in bone marrow mononuclear cells (BMMNC) was detected by qRT-PCR. The treatment response, event-free survival (EFS) and overall survival (OS) of pediatric AML patients were assessed as well. RESULTS: lnc-SNHG1 expression in pediatric AML patients was higher than that in contros (P＜0.001); up-regulated expression of lnc-SNHG1 showed a good value in predicting the prevalence of pediatric AML with an area under curve of ROC of 0.837 (95%CI: 0.785-0.888) and correlated with the poor prognosis risk stratification (P=0.004) as well. Moreover, the up-regulated expression of lnc-SNHG1 related with lower complete remission (CR) rate in pediatric AML patients (P＜0.001), and further multivariate logistic regression analysis indicated that lnc-SNHG1 high expression was independent factor related with worse CR (P＜0.001). In addition, pediatric AML patients with high expression of lnc-SNHG1 had shorter EFS time (P＜0.001) and OS time (P＜0.001), further multivariate logistic regression analysis showed that lnc-SNHG1 high expression was independent factors for predicting worse EFS (P=0.001) and OS (P=0.015) in pediatric AML patients. CONCLUSION lnc-SNHG1 is up-regulated in pediatric AML patients and can be used as an independent predicting factor for poor prognosis of pediatric AML patients.
Child ; Disease-Free Survival ; Humans ; Leukemia, Myeloid, Acute ; Prognosis ; RNA, Long Noncoding ; genetics ; RNA, Small Nucleolar

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome. Prader-Will-Like syndrome (PWLS) share features of the PWS phenotype and the gene functions disrupted in PWLS are likely to lie in genetic pathways that are important for the development of PWS phenotype. However, the genetic basis of these rare disorders differs and the absence of a correct diagnosis may worsen the prognosis of these individuals due to the endocrine-metabolic malfunctioning associated with the PWS. Therefore, clinicians face a challenge in determining when to request the specific molecular test used to identify patients with classical PWS because the signs and symptoms of PWS are common to other syndromes such as PWLS. This review aims to provide an overview of current knowledge relating to the genetics of PWS and PWLS, with an emphasis on identification of patients that may benefit from further investigation and genetic screening.
Alleles ; Chromosomes, Human ; Diagnosis ; Genetic Testing ; Genetics* ; Humans ; Phenotype ; Prader-Willi Syndrome* ; Prognosis ; RNA, Small Nucleolar ; snRNP Core Proteins

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome. Prader-Will-Like syndrome (PWLS) share features of the PWS phenotype and the gene functions disrupted in PWLS are likely to lie in genetic pathways that are important for the development of PWS phenotype. However, the genetic basis of these rare disorders differs and the absence of a correct diagnosis may worsen the prognosis of these individuals due to the endocrine-metabolic malfunctioning associated with the PWS. Therefore, clinicians face a challenge in determining when to request the specific molecular test used to identify patients with classical PWS because the signs and symptoms of PWS are common to other syndromes such as PWLS. This review aims to provide an overview of current knowledge relating to the genetics of PWS and PWLS, with an emphasis on identification of patients that may benefit from further investigation and genetic screening.
Alleles ; Chromosomes, Human ; Diagnosis ; Genetic Testing ; Genetics* ; Humans ; Phenotype ; Prader-Willi Syndrome* ; Prognosis ; RNA, Small Nucleolar ; snRNP Core Proteins

Small nucleolar RNAs (snoRNAs) are non-coding RNA (ncRNA) molecules, which are associated with specific proteins to form small nucleolar ribonucleoparticles. However, the function of snoRNAs in cancer still remains elusive. Recently, several independent lines of evidence have indicated that these ncRNAs might have crucial roles in controlling tumorigenesis, and snoRNAs could be potential biomarkers for cancer.
Biomarkers, Tumor ; metabolism ; Cell Transformation, Neoplastic ; Early Detection of Cancer ; Humans ; Neoplasms ; genetics ; metabolism ; RNA, Small Nucleolar ; genetics ; metabolism

RNA (lncRNA) play an important role in cancer metabolism and development. The lncRNA small nucleolar RNA host gene 7 (SNHG7) was reported to be upregulated in colorectal cancer and contribute to its progression. In the current study, we investigated the role of lncRNA-SNHG7 in breast cancer and explored the underlying mechanism.METHODS: We monitored the expression of lncRNA-SNHG7 in breast cancer tissues and breast cancer cell lines. We evaluated the effects of lncRNA-SNHG7 on cell proliferation and glycolysis in breast cancer cells by knocking down or overexpressing lncRNA-SNHG7. We searched for the potential microRNA (miRNA) target of lncRNA-SNHG7 and evaluated the effects of the target miRNA on glycolysis. We evaluated the potential regulation of lncRNA-SNHG7 by c-Myc.RESULTS: LncRNA-SNHG7 was up-regulated in both breast cancer tissues and breast cancer cell lines. Knocking down lncRNA-SNHG7 inhibited breast cancer cell proliferation while overexpressing lncRNA-SNHG7 enhanced cell proliferation. Knocking down lncRNA-SNHG7 resulted in decreased expression of lactate dehydrogenase A (LDHA) and decreased glycolysis. LncRNA-SNHG7 targeted miR-34a-5p to regulate LDHA expression and glycolysis. c-Myc bound to promoter of lncRNA-SNHG7 and positively regulated lncRNA-SNHG7 expression.CONCLUSION: We demonstrated that c-Myc regulated glycolysis through the lncRNA-SNHG7/miR-34a-5p/LDHA axis in breast cancer cells.]]>
Breast Neoplasms ; Breast ; Cell Line ; Cell Proliferation ; Colorectal Neoplasms ; Glycolysis ; L-Lactate Dehydrogenase ; Metabolism ; MicroRNAs ; Proto-Oncogene Proteins c-myc ; RNA, Long Noncoding ; RNA, Small Nucleolar

Human NUDT16 (hNUDT16) is a decapping enzyme initially identified as the human homolog to the Xenopus laevis X29. As a metalloenzyme, hNUDT16 relies on divalent cations for its cap-hydrolysis activity to remove m⁷GDP and m²²⁷GDP from RNAs. Metal also determines substrate specificity of the enzyme. So far, only U8 small nucleolar RNA (snoRNA) has been identified as the substrate of hNUDT16 in the presence of Mg²(+). Here we demonstrate that besides U8, hNUDT16 can also actively cleave the m⁷GDP cap from mRNAs in the presence of Mg²(+) or Mn²(+). We further show that hNUDT16 does not preferentially recognize U8 or mRNA substrates by our cross-inhibition and quantitative decapping assays. In addition, our mutagenesis analysis identifies several key residues involved in hydrolysis and confirms the key role of the REXXEE motif in catalysis. Finally an investigation into the subcellular localization of hNUDT16 revealed its abundance in both cytoplasm and nucleus. These findings extend the substrate spectrum of hNUDT16 beyond snoRNAs to also include mRNA, demonstrating the pleiotropic decapping activity of hNUDT16.
Amino Acid Motifs ; Biocatalysis ; Cell Nucleus ; enzymology ; Consensus Sequence ; Cytoplasm ; enzymology ; metabolism ; Guanosine Diphosphate ; metabolism ; Histidine ; metabolism ; Humans ; Hydrolysis ; Luciferases ; genetics ; Magnesium ; metabolism ; Manganese ; metabolism ; Mutagenesis ; Mutation ; Pyrophosphatases ; antagonists & inhibitors ; chemistry ; genetics ; metabolism ; RNA Caps ; chemistry ; metabolism ; pharmacology ; RNA, Small Nucleolar ; chemistry ; metabolism ; pharmacology