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No mutations of the SMN or NAIP genes were detected. Paper-1014932.
All of the control individuals had both normal SMN and NAIP. Paper-731322.
Three SNPs in the SNRPN/ UBE3A region had marginal imprinting effects. Paper-13008461.
SNRPN and NDN expression was detected primarily from paternal alleles. Paper-9596929.
C15orf2 is an intronless gene located between MAGEL2 and SNURF-SNRPN. Paper-8469472.
SNRPN and NDN retained monoallelic expression in all the cancers examined. Paper-8372244.
However, the presence of antibodies directed against SmD was more frequent in SLE. Paper-13400998.
Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients. Paper-8488560.
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Paper-10272425.
Oligonucleotide primers specific for SNRPN and GABRB3 were used for PWS/AS syndromes. Paper-9360369.
Identification of immunoreactive domains of the snRNP polypeptides Sm-B'/B and Sm-D. Paper-6603983.
In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. Paper-12358773.
Neither the SMN nor the NAIP gene was deleted in 81 healthy relatives and 25 controls tested. Paper-8488560.
Methylation imprinting of H19 and SNRPN genes in human benign ovarian teratomas. Paper-8327455.
Purified dsDNA and nucleosomes bind to the SmD1 peptide but not to the full-length SmD protein. Paper-12268680.
A CpG island encompassing the first exon of SNRPN is methylated on the inactive maternal allele. Paper-1133988.
Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Paper-113628.
Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Paper-731322.
Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Paper-1500786.
The major hnRNP Q isoform, Q1, directly bound SMN exon 7 in the vicinity of nucleotide +6. Paper-13055211.
However, C-banding and FISH with chromosome 15 probes D15Z1, D15S11, SNRPN, and PML were all negative. Paper-8668036.
A CpG island within the 5' region of SNRPN was identified and examined using bisulfite sequencing. Paper-11991525.
Protein p53, an additional SMN-interacting protein, is not subject to an SMN-dependent regulation. Paper-10107529.
CRP bound to a protein with the same mobility as Sm-D as well as to the 70 K protein. Paper-7786663.
Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients. Paper-8488558.
The retention of imprinting at the SNRPN and H19 loci confirm that LOI is not a ubiquitous epigenetic change. Paper-9998029.
SNURF encodes a highly basic 71-aa protein that is nuclear-localized (as is SmN). Paper-1866677.
Sera containing high titers of anti-MAP 95-119 antibodies reacted in immunoblot with the SmD protein. Paper-7652883.
In the present study, we demonstrate that SMN binds to the arginine-rich N-terminus of FGF-2(23). Paper-10648254.
Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs. Paper-9579923.
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Paper-8143866.
In contrast to SNURF-SNRPN, imprinted expression of UBE3A is not regulated by a 5' differentially methylated region. Paper-10272425.
Effect of dsDNA binding to SmD-derived peptides on clinical accuracy in the diagnosis of systemic lupus erythematosus. Paper-13442941.
In addition, three mAbs reacted with H4, five with U1 RNP, two with Sm-D peptides and 12 with SS-B peptides. Paper-7539628.
Both the first exon of SNRPN (exon -1) and the putative transcription start site are embedded within a CpG island. Paper-479968.
The E2 and SMN proteins were found to associate specifically in vitro and in vivo. Paper-1935917.
Methylation studies showed normal biparental patterns of inheritance of loci DN34/ ZNF127, D15S63, and SNRPN exon 1. Paper-1746802.
We identified axonal-SMN (a-SMN), an alternatively spliced SMN form, preferentially encoded by the SMN1 gene in humans. Paper-13101927.
Here we present results that indicate that the interaction of SMN with GAR1 is mediated by the Tudor domain of SMN. Paper-9186565.
Two oppositely imprinted genes, H19 and SNRPN, were then chosen for analysis of their methylation states in these tumors. Paper-8327455.
We now show that SMN protein, the SMN1 gene product, interacts directly with the tumor suppressor protein, p53. Paper-9154493.
METHODS: SNRPN expression was analyzed by reverse transcription coupled to polymerase chain reaction ( RT-PCR). Paper-1925361.
The snRNP core protein SmB and tissue-specific SmN protein are differentially distributed between snRNP particles. Paper-7665292.
By ELISA assay, 25% of the lupus sera contained IgG antibodies specific for the C-terminal SmD sequence 95-119. Paper-7652883.
C-reactive protein ( CRP) binding to the Sm-D protein of snRNPS. Identification of a short polypeptide binding region. Paper-7786663.
Immunodepletion of SMN- Gemin2 from the extract abolished assembly even though the extract contained high levels of Sm proteins. Paper-9095194.
Thus, differential expression of hnRNP Q isoforms may result in intricate control of SMN precursor mRNA splicing. Paper-13055211.
Loss of H19 imprinting and up-regulation of H19 and SNRPN in a case with malignant mixed Müllerian tumor of the uterus. Paper-1077158.
Hitherto, five paternally active genes have been identified in this region ( ZNF127, NDN, MAGEL2, SNURF-SNRPN, and IPW). Paper-8469472.
Antibody recognition of the recombinant human nuclear antigens RNP 70 kD, SS-A, SS-B, Sm-B, and Sm-D by autoimmune sera. Paper-104435.
A non-radioactive SSCP assay allows for a semiquantitative analysis of the copy number of the centromeric and SMN genes. Paper-728907.
SMNt and its homologous centromeric copy (SMNc) encode the SMN protein, which is markedly reduced in SMA I patients. Paper-2153690.
Group II and IV antibodies reacted with U1RNP-A, Sm-B'/B, Sm-D and Sm-E proteins, as well as the Ro/ SS-A and La/ SS-B proteins. Paper-7315529.
In oocytes, absence of Zfp57 results in failure to establish maternal methylation imprints at the Snrpn imprinted region. Paper-13034747.
Human anti-Sm antibodies were also tested for cross-reactivity with the Sm-B/B', Sm-D, and isolated S10 proteins by immunoblotting. Paper-1465868.
Antibodies to the SmD 95-119 peptide were detectable in 32% of SLE sera, 17% infectious mononucleosis and 12% Burkitt lymphoma. Paper-8202150.
However, seven genes showed consistent monoallelic expression ( NDN, MAGEL2, SNRPN, PEG3, KCNQ1, KCNQ1OT1, CDKN1C). Paper-12635798.
Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ ZNF127, PW71 (D15S63), and SNRPN loci. Paper-961930.
H19 and SNRPN were methylated in individual teratomas to various degrees, ranging from normal somatic cell to expected ovum levels. Paper-8327455.
Moreover, it is facilitated by a specialized SMN complex that contains Lsm10 and Lsm11 but lacks Sm D1/D2. Paper-9997955.
Autoantibodies specific for SmD are present only in systemic lupus (SLE) sera and are therefore considered a serological marker of SLE. Paper-8202150.
2. DNA methylation studies showed that the proband had a paternal-only DNA methylation pattern at SNRPN, D15S63 (PW71), and ZNF127. Paper-560463.
The AS deletions all overlap this minimal region, centromeric to the PWS microdeletions, which include the first exon of the SNRPN gene. Paper-690001.
The general functions of the main SMN1 protein product, full-length SMN (FL-SMN), do not explain the selective motoneuronal loss of SMA. Paper-13101927.
The inactive, truncated form of SMN produced by the SMN2 gene in SMA patients fails to bind p53 efficiently. Paper-9154493.
Mapping of epitopes on the SmD molecule: the use of multiple antigen peptides to measure autoantibodies in systemic lupus erythematosus. Paper-7652883.
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Paper-123443.
HaploChIP showed close correlation between the level of bound phosphorylated RNA polymerase II at the SNRPN locus and allele-specific expression. Paper-9884523.
SMN and p53 co-localize in nuclear Cajal bodies, but p53 redistributes to the nucleolus in fibroblasts from SMA patients. Paper-9154493.
These data provide the first direct evidence that a complex containing SMN and Gemin2 mediates the active assembly of spliceosomal U snRNPs. Paper-9095194.
The level of functional SMN protein and the number of SMN2 genes correlate with the clinical phenotype ranging from severe to very mild. Paper-8780950.
We recovered these two genes from gene trap mutagenesis selecting for altered expression of an Snrpn- EGFP fusion gene strategy. Paper-12273748.
We show that both SNURF and SNRPN are translated in normal, but not PWS, human, and mouse tissues and cell lines. Paper-1866677.
We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). Paper-564277.
As is the case with SNRPN, PWS patients with 15q11-q13 deletions do not express IPW, whereas expression is normal in Angelman syndrome patients. Paper-163832.
Paternal UPD of chromosome 15 was detected in one case, while the other two patients have abnormal methylation at D15S9, D15S63, and SNRPN. Paper-632999.
The break on Y was distal to the amelogenin locus and on 15 it was shown to be proximal to the Prader Willi/Angelman region by using the SNRPN probe. Paper-1435381.
The SmN, protein is closely related to the constitutively expressed SmB and SmB' autoantigens and can also act as a target for human autoimmune sera. Paper-8238035.
The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. Paper-728907.
Use of multiplex PCR and CE for gene dosage quantification and its biomedical applications for SMN, PMP22, and alpha-globin genes. Paper-13395454.
DNA methylation analysis at three major loci ( ZNF127, PW71 and 5' SNRPN) has been successfully used for the postnatal diagnosis of AS and PWS. Paper-8490328.
The elastin gene probe that maps to 7q11.23, SNRPN gene that maps to 15q11.2, and TUPLE gene that maps to 22q11.2 did not give a signal on the markers. Paper-9745456.
Whereas some human tissues express a minor SNURF-only transcript, mouse tissues express only the bicistronic Snurf-Snrpn transcript. Paper-1866677.
Single point mutations within the Tudor domain, including a spinal muscular atrophy patient mutation, impair the interaction of SMN with GAR1. Paper-9186565.
The reactivation was associated with increased H4 acetylation but not with H3 acetylation at the SNURF-SNRPN CpG island. Paper-8736249.
Further analysis with the SNRPN probe demonstrated that the duplication is telomeric to the Prader-Willi/ Angelman syndrome critical region. Paper-2120772.
A pseudogene for the human ribosomal protein L5 ( RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15. Paper-950394.
The imprinted SNRPN locus is a complex transcriptional unit that encodes the SNURF and SmN polypeptides as well as multiple non-coding RNAs. Paper-11010364.
We have explored the evolution of these imprinted regions by cloning and mapping IGF2, H19, SNRPN and ZNF127 homeologues in marsupials. Paper-721074.
In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material. Paper-566823.
Immunizations with these peptides induced autoantibodies to Ro60, La, SmD, and 70-kD U1-RNP without autoantibodies to Ro52, SmA, or SmB. Paper-1845894.
Abnormal imprinting of SNRPN is associated with the Angelman/Prader-Willi syndromes, and that of LIT1 and H19 with the Beckwith-Wiedemann syndrome. Paper-9596960.
With snRNP proteins, SmD, SmB, and A-RNP as immunogens, specific patterns of intermolecular spreading were obtained in addition to Abs to the immunogens. Paper-9699503.
Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing. Paper-9997955.
Anti-ribosomal P protein antibodies bound recombinant SmD (5/10) and SmB/B' (4/10) on immunoblot; 6/10 showed binding capacity to SmD on ELISA. Paper-1405059.
Two patients were detected to harbor the hybrid SMN gene, one type II with deletion of the NAIP gene, and one type III without deletion of the NAIP gene. Paper-8488558.
To investigate the function of SmN, its localisation within different snRNP particles was investigated using a range of anti-snRNP monoclonal antibodies. Paper-7665292.
RBBP1/ ARID4A interacts with RBBP1L1/ ARID4B and with the Snrpn promoter, implying that both are part of a protein complex. Paper-12273748.
We have now demonstrated functional imprinting of the human SNRPN gene using reverse transcription followed by the polymerase chain reaction ( RT-PCR). Paper-7804012.
The histone deacetylase inhibitor Trichostatin A did not alter SNRPN expression, but did reverse silencing of IFNG in a MECP2-mutant-expressing clone. Paper-9166022.
Spinal muscular atrophy (SMA) is caused by deletion or mutation of both copies of the SMN1 gene, which produces an essential protein known as SMN. Paper-13475273.
Like wild-type SMN, purified SDT showed specific binding in vitro to an RG peptide derived from Ewing's sarcoma protein. Paper-10327363.
Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript. Paper-10272425.
Here we report that splice forms of the SNURF-SNRPN transcript overlapping UBE3A in an antisense orientation are present in brain but barely detectable in blood. Paper-10272425.
Double staining with MoAbs to the Sm D and Sm B/B' components of small nuclear ribonucleoproteins confirmed that CRP bound exclusively to these particles. Paper-8011343.
Methylation and expression studies indicate that the paternal SNRPN allele is unaffected by the translocation, while IPW and PAR1 are unexpressed. Paper-548365.
Using single nucleotide polymorphisms, we provide the first evidence that SNRPN, NESP55 and H19 are abnormally methylated on the maternal alleles in BiCHMs. Paper-9899946.
Light and electron microscopy immunocytochemical analysis revealed the concentration of coilin, snRNPs, SMN and fibrillarin in CBs of DRG neurons. Paper-13252928.
Here we report that an intronless pseudogene for the L5 ribosomal protein maps within an intron of the SNRPN transcription unit on human chromosome 15. Paper-950394.
In this study we used SFHR to induce a T --> C transition at codon 280 in exon 7 of the SMN2 gene in order to produce an increase in functional SMN protein. Paper-11241790.
CRP specifically bound to and precipitated a fusion protein containing full-length Sm-D, confirming the binding of CRP to Sm-D. Paper-7786663.
In contrast, AS imprinting mutation patients show biparental expression of SNRPN and IPW but must lack expression of the putative AS gene 250-1000 kb distal of the IC. Paper-690001.
Intriguingly, methylation imprints are reacquired specifically at the maternally derived Snrpn imprinted region when the zygotic Zfp57 is present in embryos. Paper-13034747.
The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. Paper-1014932.
After methylation-dependent digestion of DNA with HpaII or McrBC, exon 1 of the SNRPN gene is amplified together with a sequence in the CpG island of the H19 gene. Paper-12256340.
Using affinity chromatography, we identified several SMN RNA-associating proteins in mouse testis and human HeLa cells, including hnRNP Q. Paper-13055211.
The efficient resolution of the differentially methylated alleles is demonstrated for two human imprinted genes, namely the SNRPN gene and the LIT1 gene ( KCNQ1OT1). Paper-8795773.
Here, we demonstrate that hnRNP Q is a splicing modulator of SMN, further underscoring the potential of hnRNP Q as a therapeutic target for SMA. Paper-13055211.
Correct prenatal diagnoses were obtained in 24 out of 24 samples using the 5' SNRPN locus; 4 out of 15 using the ZNF127 locus; and 10 out of 18 using the PW71 locus. Paper-8490328.
Exclusive paternal expression at both SNRPN and IPW was maintained in all T cell clones and correlated with maternal methylation of the intron 1 NotI site. Paper-8708471.
SMN2 produces defective SMN protein because of a C --> T transition in exon 7, which causes the skipping of exon 7 during SMN mRNA maturation. Paper-11241790.
The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Paper-1500786.
DNA sequence was determined for a cosmid containing the first three exons of SNRPN and extending 20 kb upstream and 15 kb downstream from the CpG island. Paper-1133988.
The human SNRPB ' /B locus is biallelically unmethylated, unlike the imprinted SNRPN locus which is unmethyl-ated only on the expressed paternal allele. Paper-8275889.
Transfected SMA cells showed an increase of up to 53% in full-length SMN mRNA compared with untransfected controls, as detected by real-time polymerase chain reaction. Paper-11241790.
CONCLUSION: The SCO2 mutations should be considered in the differential diagnosis of children with spinal muscular atrophy without mutations in the SMN gene. Paper-9464242.
Our results argue against post-translational arginine dimethylation as a general requirement for SMN recognition of proteins bearing arginine/ glycine-rich domains. Paper-9186565.
Here, we examined the methylation of the Snrpn, Igf2r, Peg1 and Peg3 differentially methylated regions in postnatal growing mouse oocytes. Paper-10550654.
Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene ( exons 5 and 6) was deleted in only 26% of patients. Paper-1500786.
Enhanced transcription of the gene encoding the SmN autoantigen in patients with systemic lupus erythematosus does not result in enhanced levels of the SmN protein. Paper-8238035.
Two genes are known to be involved in spinal muscular atrophy (SMA), namely, SMN (survival motor neuron) and NAIP ( neuronal apoptosis inhibitory protein). Paper-731322.
RT84 Id was positively associated with antibodies to Sm-D peptide 1-20 and to Ro/ SSA 60 kD peptide 304-324, but negatively associated with anti-dsDNA activity. Paper-952112.
Furthermore, we have found that differential DNA methylation imprints at the SNRPN promoter and at a CpG island in 11p15 are also maintained in somatic-cell hybrids. Paper-1681370.
Diagnosis was made by methylation pattern analysis of exon 1 of the SNRPN- SNURF gene and by microsatellite profiling of loci within and outside the 15q11-q13 region. Paper-10865785.
NAIP deletions were screened in 197 Italian SMA patients lacking SMN; the results obtained were correlated with disease severity in male and female samples separately. Paper-2159462.
Childhood SMAs are common neuromuscular disorders, due to the occurrence of large genomic deletions encompassing the SMN gene and often extending to involve the NAIP gene. Paper-2159462.
Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine- modified box H/ACA small nucleolar ribonucleoprotein GAR1. Paper-9186565.
Recently, the common forms of spinal muscular atrophy (SMA) have been associated with mutations of the SMN and NAIP genes on chromosome 5, in the region q11.2-13. Paper-1014932.
The SNURF-SNRPN sense/ UBE3A antisense transcription unit spans more than 460 kb and contains at least 148 exons, including the previously identified IPW exons. Paper-8891501.
Methylation polymerase chain reaction analysis of the promoter region of the SNRPN gene showed only the maternal allele, consistent with the PWS phenotype. Paper-10426288.
MYCN, PTEN, and OR5BF1 were strongly overexpressed, whereas BIN1, SNRPN, and HRAS were found to be strongly underrepresented at the transcriptional level. Paper-13100830.
We set out to examine whether a tissue-specific nuclear antigen, Sm N, is autoantigenic in SLE by comparing the immunoreactivity of the most unique sequences in this polypeptide. Paper-7586744.
To elucidate the mechanism of these long-range effects, we have analyzed the chromatin structure of the 150 kb SNRPN transcription unit for DNase I- and Msp I-hypersensitive sites. Paper-1807744.
These data uncover the SMN- PRMT5 complex as a functional entity that promotes the assisted assembly of spliceosomal UsnRNPs, and potentially other, RNA-protein complexes. Paper-9579923.
Furthermore, they suggest that SMA type-I chromosomes, with the dual deletion of the SMN and NAIP genes, are more common in Arabs than in patients of other ethnic origin. Paper-731322.
However, we observed an unexpectedly high level of exon 7-containing SMN2 transcripts as well as SMN protein in testis of smn(-/-) SMN2 transgenic mice. Paper-13055211.
In a screen for proteins associated with the nuclear transcription activator ' E2' of papillomavirus, two independent SMN cDNAs were isolated. Paper-1935917.
Two candidate SMA genes, NAIP and SMN, isolated from the 5q13 region, have been reported to be homozygously deleted in approximately 30% and >95% of SMA patients, respectively. Paper-8332898.
Fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. Paper-8491384.
Five of the 10 patients referred with the clinical diagnosis of PWS/AS showed absence of labeling for SNRPN and GABRB3 on one chromosome 15, confirming deletion of the two loci. Paper-9360369.
Moreover, we found that CpG-rich regions in SNURF-SNRPN and NDN, which in somatic tissues are methylated on the maternal allele, are hypomethylated in unfertilized human oocytes. Paper-8706207.
The PRMT5 complex, previously implicated in methylation and storage of Sm proteins, interacts with the SMN complex and enhances its activity in an ATP-dependent manner. Paper-9579923.
SNRPN was found to localize at the periphery of the chromosome territories, and it preferentially faced the nuclear membrane, unlike the adjacent centromeric repeat. Paper-8383099.
The putative promoter region of the SNRPN gene contains a CpG island which is heavily methylated in the maternally derived allele and unmethylated in the paternally derived allele. Paper-1270295.
As expected, in the cells of normal subjects the frequency of cells showing asynchronous replication for SNRPN was significantly (P < 10-12) higher than the corresponding value for RB1. Paper-13682888.
PB mobility was compared with mitochondria, endoplasmic reticulum, peroxisomes, SMN bodies, and stress granules, and diffusion coefficients were calculated. Paper-13013722.
In one of these families, the patients have a small deletion encompassing the gene for the small nuclear ribonucleoprotein polypeptide N, which maps 130 kb telomeric to D15S63. Paper-8079012.
SMN, the affected protein in spinal muscular atrophy (SMA), is a cytoplasmic protein that also occurs in nuclear structures called "gems" and is involved in snRNP maturation. Paper-8808158.
Although isolated Sm proteins assemble spontaneously onto U snRNAs in vitro, there is increasing evidence that SMN and its interactor Gemin2 are involved in this process in vivo. Paper-9095194.
Degrees of H19 hypomethylation and SNRPN hypermethylation increased as the cellular origin of the tumors advanced in oogenesis and were closely correlated in individual teratomas. Paper-8327455.
Maintenance of imprinting of the insulin-like growth factor II gene ( IGF2) and the small nuclear ribonucleoprotein polypeptide N gene ( SNRPN) in the human uterus and leiomyoma. Paper-713994.
Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7. Paper-8708471.
These BACs also hybridize to the 15q11-q13 region in close proximity to SNRPN and HERC2, and in this region there is equal intensity of signal on the normal and on the deleted chromosome. Paper-8525811.
These results suggest a functional interaction between SMN and p53, and the potential for apoptosis when this interaction is impaired may explain motor neuron death in SMA. Paper-9154493.
Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene ( SMN1) on chromosome 5. Paper-8892707.
Pathogenic missense mutations in SMN reduce both self-association and p53 binding by SMN, and the extent of the reductions correlate with disease severity. Paper-9154493.
In the nucleus, SMN is present in large foci called gems, the function of which is not yet known, while cytoplasmic SMN has been implicated in snRNP biogenesis. Paper-1935917.
Homozygous deletion in SMN1 gene causes the disease but the clinical severity may be modified by copy number of homologous gene SMN2 as well as the extent of deletion at SMN locus. Paper-10767284.
Nine patients (45%) were heterozygous at the ApaI site of IGF2, nine (45%) were heterozygous at the possible AccII polymorphic site of SNRPN, and three (15%) showed polymorphism in both genes. Paper-713994.
Treatment of the lymphoblastoid cells with trichostatin A, a histone deacetylase inhibitor, did not result in any changes to SNRPN expression or association of acetylated histones with exon 1. Paper-8766977.
Recent studies of mouse models carrying a cytogenetic deletion suggest that paternal deficiency of the SNRPN- IPW interval is critical for perinatal lethality of potential relevance to PWS. Paper-8774826.
Furthermore, activation of the paternally expressed imprinted genes Snrpn, U2af1-rs1, Peg3, Impact, Zfp127, Dlk1 and Mest in these cells was detected. Paper-12556142.
For validation, the DNA sequence copy number changes of selected clones ( SNRPN, CMYC, HER2, ZNF217) detected by aCGH were confirmed by fluorescence in situ hybridization (FISH). Paper-10363601.
These results demonstrated that IGF2 and SNRPN imprinting is completely maintained in human uteri and leiomyomas and that increased expression of IGF2 is not due to biallelic expression. Paper-713994.
Only anti-EBNA I 35-58 antibodies affinity-purified from SLE sera have a similar affinity for the viral peptide and the SmD C-terminal one; they also bind the recombinant SmD in western blot. Paper-8202150.
The human gene BDP1, localized on chromosome 5q13 in close proximity to the spinal muscular atrophy determining gene SMN, encodes a large protein consisting of 2254 amino acids (aa). Paper-11355392.
SMN2 produces reduced amounts of full-length SMN mRNA, and spinal muscular atrophy likely results from insufficient levels of SMN protein in motor neurons. Paper-11401371.
We used conventional cytogenetics, methylation analysis with the probe KB17 ( CpG island of the SNRPN gene) by Southern blotting after digestion with the Xba I and Not I restriction enzymes. Paper-1535285.
We demonstrated aberrant biallelic expression of IGF2 and H19 in several rhesus monkey ES cell lines while SNRPN and NDN were normally imprinted and expressed from the paternal allele. Paper-12348264.
Thus, SmN expressed at low levels incorporates into U2, but SmN expressed at high levels incorporates into both U1 and U2 snRNPs and replaces SmB. Paper-7665292.
These results demonstrate that the maintenance of paternal expression of SNRPN and IPW correlates with a strict clonal maintenance of allele-specific methylation at the CpG-dense 5' end of SNRPN. Paper-8708471.
Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [ Prader-Willi syndrome (PWS)/AS region probes] (group II). Paper-991278.
The FISH probes consist of the region-specific probes ( SNRPN or D15S10 probe) and two chromosome 15-specific control probes (D15Z1 centromeric and PML chromosome 15 long arm probe). Paper-10137210.
Reactivity of the Y12 MAb with S10 protein was abolished by deletion of 19 amino acids at the carboxyl-terminus of S10, containing the Gly-Arg-Gly sequence motif shared by Sm-B/B' and Sm-D (D1 and D3). Paper-1465868.
In their original configurations, SNRPN and UBE3A are expressed from both alleles, implying that acquisition of imprinting occurred after their rearrangement and required the evolution of a control locus. Paper-12294844.
The ubiquitous Sm polypeptides B/B' (28 and 29 kD) and the highly homologous tissue-specific Sm N polypeptide (29 kD) share several autoepitopes recognized by systemic lupus erythematosus ( SLE) sera. Paper-7586744.
Accordingly, the significantly lower frequency of cells showing asynchronous replication for SNRPN than for RB1 is a new epigenetic marker distinguishing these deletion syndrome genotypes from normal ones. Paper-13682888.
The centromeric survival of motor neuron SMN2 gene is retained in all SMA patients but does not produce sufficient SMN protein to prevent the development of clinical symptoms. Paper-8927203.
Whether upregulation of SNRPN is caused by its biallelic expression remains undetermined because restriction fragment length polymorphisms ( RFLP) sites were not informative in SNRPN and IGF2. Paper-1077158.
These observations suggest that SMA may in part result from abnormal gene expression and that E2 may influence viral gene expression through SMN interaction. Paper-1935917.
Plasmid-based and recombinant adeno-associated virus vectors were developed that expressed bifunctional RNAs that stimulated SMN2 exon 7 inclusion and full-length SMN protein in patient fibroblasts. Paper-12047487.
The efficient and accurate gene dosage quantification platform is combined with multiplex PCR and CE, and applied to detect dosages of several genes, including SMN, PMP22, and alpha-globin genes. Paper-13395454.
The allelic expression of small nuclear ribonucleoprotein N ( SNRPN) was stringently regulated while that of multimembrane-spanning polyspecific transporter-like gene 1 ( IMPT1) showed a large degree of variation. Paper-8839874.
We also studied the allelic expression of the small nuclear ribonucleoprotein polypeptide N gene ( SNRPN), which is reportedly maternally imprinted in humans, and compared the imprinting status with that of IGF2. Paper-713994.
RESULTS: Analysis of a region comprising 11 CpG sites at the SNRPN promoter CpG island showed that the melting temperature (T(m)) differed by approximately 3 degrees C between unmethylated and fully methylated alleles. Paper-8847269.
A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated. Paper-9612525.
Our data suggest that a subset of SLE patients with anti-Sm reactivity have IgG autoantibodies capable of discriminating between Sm N and SmB/B' polypeptides by binding a previously unreported SmB/B'-specific autoepitope. Paper-7586744.
Further, the use of DNA testing in children may be able to identify the presence of germline RB and p53 mutations, which may identify a child at high risk for SMN, so that appropriate therapeutic modifications may be made. Paper-1240050.
This PCR-based assay evaluates the methylation status of the CpG island of the SNRPN gene and allows for rapid molecular diagnosis of PWS or AS with less labor than Southern hybridization for methylation analysis. Paper-1731038.
The ASO-tsRNA vector significantly elevated SMN levels in primary SMA patient fibroblasts, within the central nervous system of SMA mice and increased SMN-dependent in vitro snRNP assembly. Paper-13050551.
CONCLUSIONS: Our results suggest that the use of RNP-70 and SmD antigens may increase the practical value of immunoassays used to confirm a diagnosis of SLE or MCTD in patients with connective tissue disease. Paper-13400998.
Finally, small nuclear ribonucleoprotein (snRNP) assembly, a critical function of SMN, was restored to SMN-deficient SMA fibroblasts following treatment with the trans-splicing vector. Paper-13349030.
The purpose of this paper is to report a polymerase chain reaction (PCR)-based assay to evaluate methylation status of the CpG island of the SNRPN gene and to show that this assay allows rapid diagnosis of PWS and AS. Paper-1270295.
SMN2 produces reduced amounts of full-length SMN messenger ribonucleic acid because of alterative splicing of SMN2 -derived transcripts, a process that is governed by specific cisand trans-acting factors. Paper-13415198.
The presence of DNA methylation imprints that distinguish the paternally and maternally inherited alleles is a common characteristic of all known imprinted genes which have been studied extensively, including SNRPN and ZNF127. Paper-1141859.
We have screened chemical inducers and inhibitors of kinase pathways using stable SMN-reporter lines and found that the phosphatase inhibitor sodium vanadate specifically stimulated exon 7 inclusion within SMN2 mRNAs. Paper-9089156.
For those patients without the SMN1 deletion, the SMN1 copy numbers were detected by real-time fluorescence quantitative polymerase chain reaction and the subtle mutations of SMN were screened by direct sequencing. Paper-13108543.
Here we show that the maternally imprinted genes Snrpn and Peg1/ Mest were nearly unmethylated or heavily methylated, respectively, in their differentially methylated regions (DMRs) at the two-cell stage in parthenogenetic embryos. Paper-12705096.
Moreover this structure has important consequences for snRNP assembly that is mediated by two complexes containing the PRMT5 methyltransferase and the SMN (survival of motor neurons) protein, respectively. Paper-10606435.
Paternal specific expression of the known imprinted genes SNRPN (small nuclear ribonucleoprotein- associated polypeptide N gene) and IPW (imprinted gene in the Prader-Willi syndrome region) was maintained in the A9 hybrids. Paper-1243795.
In conclusion, H19 and SNRPN may play significant roles in the tumorigenesis of MMMT and H19 may have tumor-promoting activity in addition to its known tumor-suppressing activity, probably depending on the tissue and the local milieu. Paper-1077158.
All three lesions lead to the lack of expression of imprinted genes that are active on the paternal chromosome only: MKRN3, MAGEL2, NDN, C15orf2, SNURF-SNRPN and more than 70 C/D box snoRNA genes (SNORDs). Paper-13500202.
Binding studies using deletion mutants of the Sm-D fusion protein revealed that CRP binding was mediated by the C-terminal region of Sm-D, a region which binds autoantibodies and is proposed to bind to RNA. Paper-7786663.
Fluorescence in situ hybridization (FISH) using cosmid probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region were not present on the derived chromosome. Paper-1028589.
SNRPN, IPW and KCNQ1OT1 were highly stable and thus appeared insensitive to perturbation; in contrast, H19, IGF2 and MEG3 were more variable and thus could potentially provide a sensitive indication of epigenetic status. Paper-12514119.
We found that expression is inherently variable in the amplified cDNA from embryo to embryo but the use of several samples at each stage showed that the SNRPN, UBE3A and PEG1 genes are expressed throughout human preimplantation development. Paper-9053912.
With time, nearly half the mouse strains tested develop Abs that react with additional regions of Sm B/B' and Sm D. All the regions bound by mouse serum are major epitopes of the human systemic lupus erythematosus anti-Sm response. Paper-1396419.
We review these studies on the role of autoantigen-specific T cells in SLE and present new findings on the molecular characterization of T cell immunity to Sm-B, Sm-D and U1-70kD small nuclear ribonucleoprotein ( snRNP) autoantigens. Paper-8921304.
One dominant peptide (as defined by enzyme-linked immunosorbent assay autoantibody reactivity) was identified in each antigen studied: peptide 1-20 in Sm-D, peptide 35-58 in U1-RNP-A, and peptide 304-324 in the Ro/ SSA 60 Kd protein. Paper-946548.
These findings identify SNURF as a protein that is produced along with SmN from a bicistronic transcript; polycistronic mRNAs therefore are encoded in mammalian genomes where they may form functional operons. Paper-1866677.
Our data thus demonstrate, for the first time, almost complete equivalence between the SMN promoters and rule out the important possibility that differences in them might explain why mutations in only the telomeric SMN gene cause SMA. Paper-1903773.
The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies within an imprinting center that is required for switching to and/or maintenance of the paternal epigenotype. Paper-9008014.
Using a quantitative PCR assay, we have found that the ratio of SNURF-SNRPN/ UBE3A transcript levels is increased in blood cells of AS patients with an imprinting defect, but not in AS patients with a UBE3A mutation or an unknown defect. Paper-10272425.
Expression of SMN enhanced E2-dependent transcriptional activation, and patient-derived SMN missense mutations reduced E2 gene expression. Paper-1935917.
Therefore, our data indicate that although the DNA methylation imprints of ZNF127 and 5' SNRPN arise in the germline and are present in brain, only 5' SNRPN maintains the imprint in tissues suitable for the prenatal diagnosis of AS and PWS. Paper-8490328.
The levels of histone H4 acetylation of the imprinted human LIT1, H19, and SNRPN genes were examined by a chromatin immunoprecipitation (ChIP) assay in mouse A9 hybrids with a single human chromosome of known parental origin. Paper-8911517.
This patient expresses ZNF127, SNRPN exons 1 and 2, IPW, and D15S227E ( PAR1) but does not express either SNRPN exons 3 and 4 or D15S226E ( PAR5), as assayed by reverse transcription-PCR, of peripheral blood cells. Paper-1746802.
The antisera also contained IgG antibodies which bound components that correspond to common target antigens in autoimmune diseases such as native dsDNA, peptides of Sm-D antigen, ubiquitin, branched peptides of ubiquitinated H2A and poly(ADP-ribose). Paper-6871836.
Our results show that IGHMBP2 is the second gene found to be defective in spinal muscular atrophy, and indicate that IGHMBP2 and SMN share common functions important for motor neuron maintenance and integrity in mammals. Paper-9056510.
Concepti were collected on d9.5 of development and allelic expression determination of ten imprinted genes ( H19, Snrpn, Igf2, Kcnq1ot1, Cdkn1c, Kcnq1, Mknr3, Ascl2, Zim1, Peg3) was performed. Paper-12663748.
The binding specificity of these mAbs was analysed by solid- and fluid-phase ELISA against the autoantigens ssDNA, dsDNA, cardiolipin, SmRNP, histones, Sm-D and SS-B (La) synthetic peptides, and foreign antigens including bacterial polysaccharides. Paper-7539628.
Galectin-1 and galectin-3 bind directly to Gemin4, a component of the SMN core complex, which plays multiple roles in ribonucleoprotein assembly, including the biogenesis, delivery, and recycling of snRNPs to the spliceosome. Paper-10532655.
By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/ SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/ HBII-85 and HBII-438A/B snoRNAs are not. Paper-10778158.
To evaluate systematically which of the five nucleotides that differ between SMN1 and SMN2 effect alternative splicing of exon 7, a series of SMN minigenes was engineered and transfected into cultured cells, and their transcripts were characterized. Paper-1875136.
Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear. Paper-11300608.
Herein we show that the Tudor domains of the spinal muscular atrophy gene product SMN, the splicing factor 30 kDa (SPF30), and the Tudor domain-containing 3 ( TDRD3) proteins interacted with arginine-glycine-rich motifs in a methylarginine-dependent manner. Paper-11209264.
In contrast, SmN was found to be an integral component of both the U-1 and U-2 snRNPs in both 3T3 cells artificially expressing high levels of SmN and in adult rat brain which has a naturally high level of SmN expression. Paper-7665292.
Subsequent functional analyses indicated that amino acids important for NFAR's activity were localized to the C terminus of the protein, a region that was found to specifically interact with FUS and SMN, proteins also known as regulators of RNA processing. Paper-9049071.
Previous studies have demonstrated biallelic expression of the imprinted genes H19 and IGF2 and loss of DNA methylation of the SNRPN gene, indicating a common precursor cell of human germ cell tumors (GCTs), namely, the primordial germ cell (PGC). Paper-11252348.
Using chromatin immunoprecipitations, we examined in multiple cell types and in an allele-specific manner the active and repressive histone marks of several imprinted loci, including H19, KvDMR1, Snrpn promoter/exon 1, and IG-DMR imprinting control regions. Paper-12665180.
The concept of a single large antisense transcript is difficult to reconcile with the observation that SNURF/ SNRPN shows a ubiquitous pattern of expression while the more distal part of UBE3A- ATS, which overlaps UBE3A, is brain specific. Paper-10292842.
RESULTS: High levels of immunoglobulin G (IgG) antibodies reacting with double-stranded DNA (dsDNA), synthetic peptides of ubiquitinated histone H2A, Sm-D antigen, U1-A RNP antigen and 60 kD SSA/Ro antigen were found in 44-95% of HIV-infected patients. Paper-7289176.
In three PWS patients (two sibs), small deletions remove a differentially methylated CpG island containing a newly described 5' exon alpha of SNRPN, and cause loss of expression for the three imprinted transcripts and altered methylation over hundreds of kilobases. Paper-8143866.
The critical PWS region has been narrowed to a approximately 320-kb region between D15S63 and D15S174, encoding several imprinted transcripts, including PAR5, IPW, PAR1 (refs 7,8) and SNRPN, which has so far been considered a strong candidate for the PWS gene. Paper-548365.
In contrast, stable allele-specific methylation was observed in these clonal populations at exon 1 of SNRPN and the androgen receptor locus on the inactive X chromosome, suggesting that methylation at some CpG sites is more faithfully maintained than others. Paper-1340847.
In the view of scarcity of genotype and phenotype correlation data from India, this study has been undertaken to determine that correlation in SMA patients by using the SMN and NAIP genes and two polymorphic markers C212 and C272 located in this region. Paper-10767284.
Molecular studies in the family using six polymorphic markers for chromosome 15 and Southern blot analysis of DNA methylation for the CpG island near the SNRPN gene showed normal biparental inheritance of chromosome 15, excluding uniparental disomy. Paper-1175645.
Two novel transcripts located within 300 kilobases telomeric to the small nuclear ribonucleoprotein- associated polypeptide N gene ( SNRPN) were paternally expressed in cultured cells, along with SNRPN, defining a large imprinted transcriptional domain. Paper-8143866.
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. Paper-759461.
The SNRPN gene and the centromere were located close to each other late in S phase, reflecting that these DNA segments may be compacted into the same intranuclear subcompartments with the progress of S phase and in course of preparation for the following G(2) phase. Paper-8383099.
IPW is located about 150 kb distal to SNRPN, the only other known gene in the deletion interval, and about 50 kb proximal to the breakpoint of a translocation which defines the distal end of the PWS region and the proximal end of the Angelman syndrome (AS) region. Paper-163832.
In cases of Prader-Willi syndrome (PWS), a total of 24 patients with PWS, as well as 205 control individuals from the general population, were analyzed by use of multiplex quantitative PCR to amplify the FGFR2 gene, the KRIT1 gene, and the SNRPN gene simultaneously. Paper-12340168.
Strikingly, the female with autism and milder Prader-Willi-like characteristics demonstrated unexpected deficiencies in the paternally expressed transcripts SNRPN, NDN, HBII85, and HBII52 and unchanged levels of maternally expressed UBE3A compared to controls. Paper-13597538.
Currently pursued therapeutic strategies for SMA include induction of SMN2 gene expression, modulation of splicing of SMN2-derived transcripts, stabilization of SMN protein, neuroprotection of SMN deficit neurons, and SMN1 gene replacement. Paper-11401371.
Chromatin immunoprecipitation (ChIP) studies revealed that the unmethylated CpG island of the active, paternally derived allele of SNURF-SNRPN was associated with acetylated histones, whereas the methylated maternally derived, inactive allele was specifically hypoacetylated. Paper-8736249.
Recent studies indicate that the protein affected in spinal muscular atrophy, SMN, plays a role in the assembly of a number of macromolecular complexes that function in the nucleus, interacting with its partner proteins via their arginine- and glycine-rich domains. Paper-8875752.
The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in brain cells - from the maternal chromosome only, and affected in patients with Angelman syndrome (AS). Paper-10272425.
We found that three imprinted genes, TSSC5, H19, and SNRPN, show monoallelic expression in in vitro differentiated human EG-derived cells, and a fourth gene, IGF2, shows partially relaxed imprinting at a ratio from 4:1 to 5:1, comparable to that found in normal somatic cells. Paper-9167557.
To demonstrate the utility of our approach, we report data to determine the gene dosage for relative amounts of alleles in a homologous gene, allowing detection of mutation causing exon skipping in human SMN genes to determine the ratio between the copy numbers of the SMN1/ SMN2 gene. Paper-11482573.
In contrast, cells of the deletion-carrying patients exhibited a reversal in this replication pattern: there was a significantly lower frequency of cells engaging in asynchronous replication for SNRPN than for RB1 (P < 10-4 and P < 10-3 for DiGeorge/Velocardiofacial and Williams syndromes, respectively). Paper-13682888.
The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. Paper-1535741.
For example, the differentially methylated 5 -portion of the human SNRPN gene-a sequence element that controls imprinting in the Prader-Willi and Angelman syndromes' domain on chromosome 15q11- q13-has strong DNase-I hypersensitive sites on the unmethylated paternal chromosome (4). Paper-11439056.
METHODS: The binding of lupus-derived monoclonal antibodies, sera from patients with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis, dsDNA and nucleosomes to the SmD1(83-119) peptide or the full-length SmD protein was determined using different ELISA methods. Paper-12268680.
Within 15q11-q13, four genes ( SNRPN, IPW, ZNF127, FNZ127) and two expressed sequence tags ( PAR1 and PAR5) have been found to be expressed only from the paternally inherited chromosome, and therefore all must be considered candidate genes involved in the pathogenesis of PWS. Paper-1141859.
Four additional cases were detected by fluorescence in situ hybridization (FISH) with the cosmid probes for D15S11, r-aminobutyric acid receptor beta 3 ( GABRB3), small nuclear ribonucleoprotein-associated peptide N ( SNRPN) or D15S10 (Prader-Willi/ Angelman syndrome region probes). Paper-664714.
Furthermore, treatment of A9 hybrids with trichostatin A ( TSA), an inhibitor of histone deacetylase, resulted in transcriptional reactivation of the silent alleles for LIT1 and SNRPN, suggesting that histone deacetylation is one of the key regulatory mechanisms in genomic imprinting. Paper-8911517.
By analysing nine SMA discordant families, we demonstrate that in all families unaffected siblings produce significantly higher amounts of SMN, Gemin2, Gemin3, ZPR1 and hnRNP-Q protein in lymphoblastoid cell lines, but not in primary fibroblasts, compared with their affected siblings. Paper-10107529.
Recently, deletions of the neuronal apoptosis inhibitory protein gene NAIP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. Paper-564277.
In addition, overexpression of a truncated form of SMN shown to induce a modified subcellular localization and to exert a dominant-negative effect on snRNP biogenesis and RNA splicing in HeLa cells was ineffective in modifying both localization and survival in motoneurons. Paper-8810489.
These results suggest that disruption of either IPW expression or a nearby gene by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of SNRPN or other upstream genes is responsible for other aspects of the classical Prader-Willi syndrome phenotype. Paper-1170618.
We have carried out in-depth molecular dynamics (MD) simulations with various force fields on three proteins: ubiquitin, the GB1 domain of protein G, and the SMN Tudor domain, for which experimental h3JNC' scalar couplings of backbone hydrogen bonds and various high-resolution X-ray structures are available. Paper-13217805.
Antibodies from SLE patients with autoimmune serology other than anti-Sm bind the carboxyl glycine-arginine repeat (GR)10 peptides of Sm D. However, none of the antibodies tested from patients who do not have lupus and who have different autoimmune serology binds any of the Sm D octapeptides. Paper-8229114.
To determine which regions of the Sm D polypeptide are involved in the lupus autoimmune response, binding to overlapping octapeptides of Sm D has been evaluated with sera from nine Sm D-positive patients, six patients with other autoimmune serology, and five normal human sera. Paper-8229114.
Co-immunoprecipitation studies carried out on nuclear extracts reveal that both the endogenous SMN and mutant proteins are associated with complexes containing two major non-ribosomal nucleolar proteins, namely nucleolin and protein B23, and that the association is mediated, by among other things, RNA moieties. Paper-9444104.
Imprinting analysis using reverse transcription-polymerase chain reaction of RNA from fibroblasts and lymphoblasts of deletion Prader-Willi and Angelman patients demonstrated imprinting of SNRPN with exclusive expression from the paternal allele, but E6-AP and PAR-2 were not imprinted in these cultured human cells. Paper-123443.
RESULTS: One PWS subject with maternal disomy 15 showed weak but detectable expression of PAR1, whereas SNRPN expression was detected in two PWS subjects [one with the 15q11-q13 deletion and one with a t(15;15) karyotype and maternal disomy 15], and the remaining typical PWS subjects showed no expression of the imprinted genes or transcripts. Paper-11595740.
Three independent assays revealed a reduced proportion of nonmethylated SNURF-SNRPN alleles in peripheral blood DNA: methylation-specific PCR followed by denaturing high-performance liquid chromatography ( MSP/DHPLC), methylation-sensitive restriction enzyme analysis and methylation-specific real-time PCR analysis. Paper-11048947.
This investigation detects the inherent precision of four navigation systems, of different structural type, for computer-assisted surgery, ranging from 0.1 to 1.8 mm: the Viewing Wand with a mechanical arm, and three new systems, the SMN microscope and STP pointer with infrared technology and the MKM system with laser autofocus. Paper-1165502.
Placenta, HMH, histologically normal liver and other tissues were examined for androgenetic/biparental mosaicism by analysis of (1) polymorphic DNA microsatellite markers, (2) the methylation status of an imprinted gene, SNRPN, and (3) immunohistochemically detectable protein products of the imprinted genes p57KIP2 and TSSC3. Paper-12757259.
We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syndrome patient samples with uniparental disomy of chromosome 15q11-q13 (n = 11) from those with biparental inheritance (n = 13). Paper-636214.
AIM: To analyse the methylation status of various imprinted genes ( IGF2R gene at 6q26, PEG1/ MEST at 7q32, KCNQ1OT1 and H19 at 11p15.5, and SNRPN at 15q11-13) in 40 patients with BWS showing a loss of methylation at KCNQ1OT1 (11 patients with BWS born after the use of ART and 29 patients with BWS conceived naturally). Paper-12342925.
To understand the mechanism whereby the differential methylation is established and maintained, we analyzed a series of transgenes containing DMD sequences and showed that imperfect tandem repeats from DMDs associated with the Snurf/ Snrpn, Kcnq1, and Igf2r gene clusters govern transgene imprinting. Paper-12299833.
High resolution chromosome analysis was normal but fluorescence in situ hybridization (FISH), Southern hybridization, and microsatellite data from the 15q11q13 region demonstrated that the deletion was paternal in origin and included the SNRPN, PAR-5, and PAR-7 genes from the proximal to distal boundaries of the deletion segment. Paper-864063.
This imprinted domain arose after a region bearing UBE3A ( Angelman syndrome) fused with an unlinked region bearing SNRPN ( Prader-Willi syndrome), which had duplicated from the non-imprinted SNRPB/B'. This region independently acquired several retroposed gene copies and arrays of small nucleolar RNAs from different parts of the genome. Paper-12294844.
Since transcriptional regulation by DNA methylation involves histone deacetylation, we explored whether differences in histone acetylation exist between the two parental alleles of SNRPN and other paternally expressed genes in the region by using a chromatin immunoprecipitation assay with antibodies against acetylated histones H3 and H4. Paper-8766977.
Using bisulfite genomic sequencing at eight imprinted DMRs on DNA from two BiHMs, we found a pattern of failure to acquire or maintain DNA methylation at DMRs ( PEG3, SNRPN, KCNQ1OT1, GNAS exon 1A) that normally acquire CpG methylation during oogenesis, but not at H19, which acquires CpG methylation during spermatogenesis. Paper-12742701.
More recently, there has been an interest in autoantibodies that bind components of the " SMN complex" or the "assemblyosome". Arginine/ glycine (RG)-rich domains in components of the SMN complex interact with Sm, like-Sm (LSm), fibrillarin, RNA helicase A (Gu), and coilin proteins, all of which are antigen targets in a variety of diseases. Paper-10350304.
Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. Paper-1679646.
Four targets including the chromosome 15 territory, its centromere, the SNRPN gene on this chromosome, and the nucleus, were visualized simultaneously in three-dimensionally preserved nuclei using multicolor fluorescence in situ hybridization, and the spatial distributions of these probes were analyzed with a cooled CCD camera deconvolution system. Paper-8383099.
These synonyms are used for gene SNRPN (small nuclear ribonucleoprotein polypeptide N): Tissue-specific-splicing protein, SNURF-SNRPN, SNRNP-N, snRNP-N, Sm protein N, Sm protein D, Sm-N, SMN, SmN, SM-D, Sm-D, Small nuclear ribonucleoprotein-associated protein N, RT-LI, PWCR, MGC29886, HCERN3, FLJ39265, FLJ36996, FLJ33569, DKFZp762N022, DKFZp761I1912, DKFZp686M12165, DKFZp686C0927.
These accession numbers are used for gene SNRPN: Q53HE7 (UNIPROT__AC), P14648 (UNIPROT__AC), CAA33901 (NCBI_GENBANK__AC), AAH24777 (NCBI_GENBANK__AC).
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Bos taurus.
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Pan troglodytes.
SNRPN is a homologue of SNRPN (small nuclear ribonucleoprotein polypeptide N) from Canis lupus familiaris.
SNRPN is a homologue of Snrpn (small nuclear ribonucleoprotein N) from Mus musculus.
SNRPN is a homologue of Snrpn (small nuclear ribonucleoprotein polypeptide N) from Rattus norvegicus.
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