Affinage

SNRPN

Small nuclear ribonucleoprotein-associated protein N · UniProt P63162

Length
240 aa
Mass
24.6 kDa
Annotated
2026-06-10
100 papers in source corpus 28 papers cited in narrative 27 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SNRPN encodes SmN, a brain-enriched core small nuclear ribonucleoprotein (snRNP) polypeptide closely related to and functionally substituting for SmB/B' in pre-mRNA splicing (PMID:8111367). SmN is not strictly required for the neuronal-specific alternative splicing events tested, and its loss in PWS brain triggers compensatory upregulation of SmB'/B that restores stoichiometric snRNP component levels (PMID:7845394, PMID:10556313). The defining biological feature of SNRPN is its expression exclusively from the paternal allele, with the maternal allele silenced by CpG methylation of the promoter CpG island — methylation that directly abolishes promoter activity in reporter assays (PMID:1303276, PMID:1303277, PMID:1303278, PMID:7512861, PMID:8111367, PMID:9199937). The locus harbors the Prader-Willi syndrome imprinting control center: deletion of the differentially methylated 5' region disrupts SNRPN and flanking imprinted transcripts and perturbs methylation over hundreds of kilobases, and this element is required both for establishing the paternal imprint in the male germline and for its postzygotic maintenance (PMID:7987392, PMID:10802660, PMID:11431693). Allele-specific silencing operates through coordinated chromatin organization: the methylated maternal allele is nuclease-inaccessible, hypoacetylated at histone H3, and bound by MeCP2, whereas the paternal allele displays DNase I hypersensitive sites bound by NRF-1, YY1, Sp1, and unphosphorylated RNA Pol II (PMID:11463825, PMID:10072422, PMID:16116039). The IC-SNURF-SNRPN transcript additionally serves as the host for multiple intronic snoRNAs and as a >460-kb antisense transcript for UBE3A, while the upstream SNURF ORF translationally represses the downstream SNRPN ORF (PMID:11726556, PMID:12075010). Beyond splicing, SNRPN protein regulates cortical neuron development, neurite outgrowth, migration, and dendritic spine morphology through control of the nuclear receptor Nr4a1, and is held in check in adult neural stem cells by non-catalytic TET3 binding that prevents premature BMP2-mediated astrocytic differentiation (PMID:27430727, PMID:30979904).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1992 High

    Established that Snrpn is a genomically imprinted gene expressed only from the paternal allele, defining it as a candidate locus for the parent-of-origin disorders mapping to this chromosomal region.

    Evidence Allele-specific RT-PCR in mouse brain/heart plus chromosomal mapping, with a maternal-duplication mouse model confirming silencing

    PMID:1303276 PMID:1303277 PMID:1303278

    Open questions at the time
    • Did not define the cis-element enforcing the imprint
    • Molecular identity of the silencing mark not yet established
  2. 1993 High

    Identified the SNRPN gene product as SmN, a core snRNP protein that replaces SmB/B' in brain, assigning a concrete molecular function in pre-mRNA splicing.

    Evidence cDNA cloning and protein characterization in human tissue

    PMID:8111367

    Open questions at the time
    • Specific splicing substrates of SmN not defined
    • Functional consequence of SmN vs SmB/B' substitution in brain unresolved
  3. 1994 High

    Confirmed paternal-only expression of human SNRPN and located a differentially methylated CpG island whose deletion disrupts imprinting over a large domain, defining the locus as an imprinting control region.

    Evidence Polymorphism-based allele-specific expression in fetal tissue; deletion mapping in PWS patients with methylation and transcript analysis

    PMID:7512861 PMID:7987392 PMID:8111367

    Open questions at the time
    • Mechanism by which the IC acts over hundreds of kilobases not resolved
    • Did not distinguish establishment from maintenance functions
  4. 1996 High

    Demonstrated that maternal silencing is a direct causal consequence of promoter CpG methylation, and that allele-specific methylation is maintained across diverse somatic tissues.

    Evidence In vitro methylation of a promoter reporter construct; methylation-sensitive Southern blot across multiple tissues; allele-specific chromatin accessibility analysis in PWS/AS cells

    PMID:10072422 PMID:8571960 PMID:9199937

    Open questions at the time
    • Did not identify the methyl-reader proteins enforcing silencing
    • Mechanism linking methylation to chromatin compaction not yet defined
  5. 1996 Medium

    Linked alternative upstream non-coding SNRPN transcripts to imprint switching, providing a candidate mechanism for the germline epigenetic reprogramming defects in PWS/AS.

    Evidence cDNA cloning, allele-specific RT-PCR, and mutation analysis in AS/PWS patients with imprint switch failure

    PMID:8841186

    Open questions at the time
    • Causal role of the transcripts vs underlying DNA elements not separated
    • Mechanism of imprint switching unresolved
  6. 1997 High

    Mapped the developmental dynamics of the imprint, showing two differentially methylated regions whose marks are erased in primordial germ cells and re-established sex-specifically during gametogenesis.

    Evidence Bisulfite sequencing of gametes and embryos, transgenic and methylase-deficient embryo analysis

    PMID:9294199

    Open questions at the time
    • Enzymatic machinery establishing germline methylation not identified here
    • Sequence determinants of DMR specificity unknown
  7. 1999 High

    Resolved that the SNRPN promoter/exon 1 element functions both to establish the paternal imprint in the germline and to maintain it postzygotically, and that SmN loss is buffered by compensatory SmB'/B upregulation.

    Evidence Mosaic PWS patient and chimeric mouse ES cell deletion models with methylation analysis; Western blot of PWS brain

    PMID:10556313 PMID:10802660

    Open questions at the time
    • Trans-acting maintenance factors not identified
    • Physiological extent of SmB'/B compensation across tissues unclear
  8. 2001 High

    Defined the chromatin and host-transcript architecture of the locus, connecting maternal methylation to histone H3 deacetylation and MeCP2 recruitment, and establishing the transcript as a snoRNA and UBE3A-antisense host.

    Evidence Allele-resolved ChIP and transgene-induced methylation in mice; cDNA cloning and Northern blot for snoRNA/antisense identification; targeted deletions defining functional boundaries

    PMID:11431693 PMID:11463825 PMID:11726556

    Open questions at the time
    • Order of methylation, deacetylation, and MeCP2 binding not established
    • Functional roles of individual hosted snoRNAs not addressed
  9. 2002 High

    Uncovered a translational control layer in which the upstream SNURF ORF represses translation of the downstream SNRPN ORF within the bicistronic transcript.

    Evidence ENU-induced initiation-codon mutation in mice plus transfection assays with immunoblot quantification

    PMID:12075010

    Open questions at the time
    • Physiological conditions modulating SNURF-mediated repression unknown
    • Mechanism of reinitiation/translational coupling not detailed
  10. 2005 High

    Identified the specific trans-acting factors and enhancer element driving paternal-allele transcription, providing the protein-level basis for allele-specific activation.

    Evidence In vivo footprinting, DNase I hypersensitivity mapping, ChIP, and reporter assays identifying NRF-1, YY1, Sp1, and RNA Pol II binding

    PMID:16116039

    Open questions at the time
    • Hierarchy among NRF-1, YY1, and Sp1 not established
    • How methylation excludes these factors mechanistically not resolved
  11. 2016 Medium

    Extended SNRPN function beyond splicing to neuronal development, placing the nuclear receptor Nr4a1 as a downstream effector of SNRPN-controlled neurite and spine phenotypes.

    Evidence Gain- and loss-of-function in primary cortical neurons with phenotypic assays and Nr4a1 epistasis rescue

    PMID:27430727

    Open questions at the time
    • Molecular mechanism by which SNRPN controls Nr4a1 levels unknown
    • Single-lab data without in vivo confirmation
  12. 2019 Medium

    Showed that adult neural stem cell fate is gated by non-catalytic TET3 repression of SNRPN, linking SNRPN derepression to BMP2-driven astrocytic differentiation.

    Evidence ChIP for TET3 binding plus NSC-specific TET3 knockout with differentiation phenotype and BMP2 effector identification

    PMID:30979904

    Open questions at the time
    • Non-catalytic mechanism inferred from catalytic mutants, not directly reconstituted
    • How SNRPN connects mechanistically to BMP2 signaling unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the splicing function of SmN integrates with its non-splicing roles in neuronal development and stem cell fate, and the direct molecular substrates linking SNRPN to Nr4a1 and BMP2, remain unresolved.
  • No defined RNA substrates connecting splicing activity to neuronal phenotypes
  • Mechanism by which SNRPN protein regulates downstream gene expression unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 2 GO:0140110 transcription regulator activity 2 GO:0005198 structural molecule activity 1
Localization
GO:0005634 nucleus 1
Pathway
R-HSA-4839726 Chromatin organization 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-1266738 Developmental Biology 2 R-HSA-8953854 Metabolism of RNA 2
Partners
MECP2NRF-1SP1TET3YY1
Complex memberships
snRNP (spliceosomal core Sm complex)

Evidence

Reading pass · 27 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1992 Snrpn is maternally imprinted in mouse brain and heart, with expression exclusively from the paternal allele; the gene encodes a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN involved in RNA splicing. RT-PCR allele-specific expression analysis in mouse brain; chromosomal mapping to mouse chromosome 7 (syntenic to human 15q11-13) Nature genetics High 1303276 1303277 1303278
1993 The SNRPN gene encodes the SmN protein involved in pre-mRNA splicing; SmN is a constitutive core snRNP protein closely related to SmB/B', replacing SmB/B' specifically in brain. cDNA cloning, gene expression analysis, protein characterization Human molecular genetics High 8111367
1994 Human SNRPN is exclusively expressed from the paternal allele (maternally imprinted) in fetal brain and heart, as demonstrated by sequence polymorphism analysis confirming maternal allele silencing. RT-PCR of expressed polymorphism, analysis of maternal DNA vs cDNA in fetal brain and heart Nature genetics High 7512861 8111367
1994 Small deletions removing a differentially methylated CpG island at the 5' end of SNRPN (including exon alpha) cause loss of expression for SNRPN and flanking imprinted transcripts and alter methylation over hundreds of kilobases, defining a paternal imprinting control region (IC) at this locus. Deletion mapping in PWS patients, methylation analysis, transcript expression studies Nature genetics High 7987392
1996 The SNRPN CpG island (encompassing exon -1 and the transcription start site) is extensively methylated on the silent maternal allele and unmethylated on the expressed paternal allele across a wide range of fetal and adult somatic tissues; a downstream intronic region (intron 5) is preferentially methylated on the expressed paternal allele in somatic tissues and male germ cells but unmethylated in fetal oocytes. Methylation analysis by Southern blot with methylation-sensitive restriction enzymes; allele-specific methylation in multiple tissues American journal of human genetics High 8571960
1996 In vitro methylation of the SNRPN promoter (260-bp fragment containing exon 1) completely abolishes promoter activity, demonstrating that silencing of the maternal allele is a direct consequence of CpG methylation of the promoter region. Functional promoter assay in transfected cells; in vitro methylation of promoter construct followed by reporter gene activity measurement Genome research High 9199937
1996 Alternative non-coding transcripts of SNRPN (novel upstream exons without protein-coding potential) are expressed from the paternal chromosome only and intragenic deletions/point mutations in these alternative transcripts are found in AS and PWS patients with imprint switch failure, indicating these transcripts are involved in imprint switching. cDNA cloning, RT-PCR allele-specific expression, mutation analysis in AS/PWS patients Nature genetics Medium 8841186
1997 The mouse Snrpn gene has two differentially methylated regions: DMR1 (maternally methylated at 5' end, correlating inversely with paternal expression) and DMR2 (paternally methylated at 3' end). DMR1 is remethylated during oogenesis and DMR2 during spermatogenesis; both methylation patterns are erased in primordial germ cells at 12.5 dpc and re-established during gametogenesis. Bisulfite sequencing, methylation analysis of gametes and embryos, ES cell transfection and pronuclear injection experiments, methylase-deficient mouse embryo analysis Proceedings of the National Academy of Sciences of the United States of America High 9294199
1999 Western analysis demonstrates that SmB'/B levels are dramatically upregulated in PWS brain tissue in response to loss of SmN (SNRPN product), indicating a compensatory feedback loop that maintains stoichiometric levels of spliceosomal snRNP components. Western blot analysis of PWS brain tissue; comparative protein quantification Nucleic acids research Medium 10556313
1999 The SNRPN/Snrpn promoter and exon 1 region functions as the PWS-IC element required not only for establishment of the paternal imprint in the male germline but also for its postzygotic maintenance; deletion of this element causes acquisition of a maternal methylation imprint on the paternal chromosome in somatic cells. Analysis of mosaic PWS patient with IC deletion; generation of chimeric mice from ES cell lines with analogous deletion; methylation analysis Nature genetics High 10802660
2001 DNA methylation at the Snrpn DMR1 is linked to deacetylation of histone H3 (at K9, K14, K18) but not H4 on the methylated maternal allele; the methyl-CpG-binding protein MeCP2 associates exclusively with the methylated maternal allele; experimentally induced methylation of the paternal allele leads to H3 underacetylation. Chromatin immunoprecipitation (ChIP) with allele resolution by SSCP; transgene-induced methylation experiments; F1 mouse analysis Molecular and cellular biology High 11463825
2001 The IC-SNURF-SNRPN transcript serves as the host transcript for multiple snoRNAs (HBII-13, HBII-85, HBII-52, HBII-436, HBII-437, HBII-438A, HBII-438B) encoded within its introns, and also serves as an antisense transcript for UBE3A spanning more than 460 kb; Northern blot analysis indicates the snoRNAs are expressed by processing from these introns. cDNA cloning, Northern blot analysis, RT-PCR, genomic sequencing Human molecular genetics High 11726556
2001 A 0.9-kb deletion of mouse Snrpn exon 1 did not disrupt imprinting, but a larger 4.8-kb overlapping deletion caused partial/mosaic imprinting defects and perinatal lethality when paternally inherited, revealing that sequences beyond exon 1 within this region are required for imprinting center function. Targeted deletion in mice; methylation and gene expression analysis; phenotypic characterization Nature genetics High 11431693
2002 An ATG-to-AAG point mutation in the initiation codon of the upstream ORF (SNURF) in the bicistronic Snurf-Snrpn transcript causes a 15-fold or greater increase in translation of the downstream Snrpn ORF, providing evidence that SNURF upstream ORF normally suppresses translation of SNRPN through translational control. ENU mutagenesis screen; Northern blotting; immunoblotting; transfection assays with mutant constructs Human molecular genetics High 12075010
2005 The SNRPN 5' region contains two DNase I hypersensitive sites (DHS1 at the promoter and DHS2 in intron 1) exclusively on the paternal allele; in vivo footprinting and ChIP identified allele-specific interactions with NRF-1, YY1, Sp1, and unphosphorylated RNA Pol II at these sites, with DHS2 functioning as an enhancer of the SNRPN promoter. In vivo DNase I hypersensitivity mapping; in vivo footprinting; chromatin immunoprecipitation (ChIP); reporter gene assay Nucleic acids research High 16116039
2016 SNRPN protein regulates cortical neuron development: overexpression or knockdown impairs neurite outgrowth, neuron migration, and dendritic spine distribution. SNRPN controls the expression level of the nuclear receptor Nr4a1, and the spine development defects caused by SNRPN overexpression are fully rescued by Nr4a1 co-expression; knockdown of Nr4a1 or its antagonist DIM rescues SNRPN knockdown effects on neurite outgrowth. Overexpression and knockdown in primary cortical neurons; neurite outgrowth, migration and spine morphology assays; rescue experiments with Nr4a1 co-expression and pharmacological antagonism Scientific reports Medium 27430727
2019 TET3 binds directly to the paternal transcribed allele of the imprinted Snrpn gene in adult neural stem cells (NSCs) through a non-catalytic mechanism, contributing to transcriptional repression of Snrpn; loss of this TET3-mediated repression leads to upregulation of SNRPN, which in turn promotes BMP2-mediated astrocytic terminal differentiation of NSCs. ChIP demonstrating TET3 binding to Snrpn locus; NSC-specific TET3 knockout with phenotypic readout (premature astrocyte differentiation); identification of BMP2 as SNRPN effector Nature communications Medium 30979904
1996 Allele-specific differential chromatin conformation at SNRPN: the paternal allele (expressed) shows prominent DNase I hypersensitive sites flanking exon 1, while the maternal allele is completely inaccessible to nucleases at this region; regions of increased nuclease hypersensitivity on the maternal allele correlate with hypermethylation on the paternal allele at several sites. In vivo DNase I and Msp I hypersensitivity analysis on lymphoblastoid cell lines from PWS and AS individuals; allele-specific chromatin structure mapping Human molecular genetics Medium 10072422
1994 Mice with maternal duplication for the Snrpn-containing chromosome 7 region do not express Snrpn, providing a genetic model for PWS and demonstrating that both copies must be maternally derived for silencing; the closely linked Gabrb3 locus is not subject to imprinting. Maternal duplication mouse model; RT-PCR expression analysis; genetic mapping Nature genetics High 1303278
1998 Mouse and human SNRPN/Snrpn gene structure is conserved with ten exons spanning 22 kb; the promoter contains a differentially methylated CpG island; intron 1 contains G-rich clustered repeats conserved between mouse and human that may play a role in establishing imprint-associated DNA methylation patterns. Genomic and cDNA characterization; methylation analysis in ES cells and adult tissues; structural conservation analysis between mouse and human Mammalian genome Medium 9745031
1996 Monoallelic (paternal-only) expression of SNRPN is maintained in human uterus and leiomyoma, demonstrating that the imprint is preserved in these smooth muscle tissues. RFLP analysis of SNRPN expression from genomic DNA and mRNA in 20 patients Gynecologic and obstetric investigation Low 8821886
2001 Maternal and paternal genomes function independently in establishing parental-specific expression of Snrpn in mouse ova; both paternal Snrpn alleles are active in androgenetic ova and neither is active in gynogenetic ova, with no evidence for trans-allelic/genomic counting or exclusion mechanisms. Quantitative allele-specific RT-PCR single nucleotide primer extension in gynogenetic, androgenetic, triploid, and tetraploid ova; single blastomere analysis The EMBO journal Medium 8947024
2001 The conserved activator sequence (CAS) in Snrpn intron 1 has methylation-sensitive enhancer activity and shows developmentally dynamic changes in DNA methylation (not a germline DMR), suggesting it controls tissue-specific expression of IC transcripts. Methylation analysis of CAS across developmental stages; reporter gene assay demonstrating methylation-sensitive enhancer activity Gene Medium 19095049
1999 An 85-kb murine Snrpn transgene (containing 33 kb of 5' and 30 kb of 3' flanking DNA) with two copies recapitulated imprinted expression, while a single copy did not, suggesting a 6.6-kb region of maternal-specific DNA methylation may be sufficient to confer imprinted expression in a copy-number-dependent manner; a 76-kb human SNRPN transgene was expressed biallelically in mice regardless of copy number. Transgenic mouse lines with murine and human SNRPN constructs; methylation and allele-specific expression analysis Mammalian genome Medium 10341083
2001 The Snrpn minimal promoter requires a 7 bp element (SBE) within the 76 bp exon 1 for activity in its unmethylated state; this element binds a specific protein and its mutation abolishes promoter function. The mouse Snrpn minimal promoter (84 bp upstream + exon 1) contains all elements necessary for activity and imprinting, while the orthologous human sequence lacks these functional elements. Transfection reporter assays; transgenic experiments with SBE mutants; chimeric mouse/human promoter constructs Genes to cells Medium 11733034
1993 C-reactive protein (CRP) binds to the Sm-D protein of snRNPs through a calcium-dependent, phosphocholine-inhibitable interaction mediated by the C-terminal region of Sm-D; deletion mapping demonstrated that the CRP binding domain resides in this C-terminal region which is also proposed to bind RNA. CRP binding assays with snRNP fractions; fusion protein pull-down; deletion mutant mapping Molecular immunology Medium 8502240
1992 Mice lacking Snrpn expression die shortly after birth, but neuronal-specific alternative splicing of several different classes of protein RNAs proceeds normally in these mice, indicating that SmN is not required for the regulation of the tested neuronal-specific alternative splicing events. RT-PCR analysis of alternative splicing events in brain of non-expressing mice (maternal duplication model) Molecular biology reports Medium 7845394

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1994 Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature genetics 381 7987392
2001 The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Human molecular genetics 301 11726556
1992 Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature genetics 253 1303276
1992 Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature genetics 239 1303277
1996 Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature genetics 203 8841186
1996 Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. American journal of human genetics 200 8571960
1997 Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proceedings of the National Academy of Sciences of the United States of America 169 9294199
1992 A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nature genetics 166 1303278
1994 Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature genetics 154 7512861
1993 Functional imprinting and epigenetic modification of the human SNRPN gene. Human molecular genetics 143 8111367
1988 Molecular cloning of a cDNA encoding the human Sm-D autoantigen. Proceedings of the National Academy of Sciences of the United States of America 139 3260384
2004 Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic acids research 134 15226413
1997 A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. European journal of human genetics : EJHG 134 9195159
2010 CpG methylation analysis of the MEG3 and SNRPN imprinted genes in acute myeloid leukemia and myelodysplastic syndromes. Leukemia research 126 19595458
2000 De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nature genetics 126 10802660
1999 Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Human molecular genetics 125 10400982
2001 DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1-rs1. Molecular and cellular biology 111 11463825
1994 Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Human molecular genetics 110 8004100
2003 Methylation imprints of the imprint control region of the SNRPN-gene in human gametes and preimplantation embryos. Human molecular genetics 101 14500540
1993 A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 93 8307564
2001 The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nature genetics 89 11431693
1996 Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. American journal of medical genetics 71 8957518
1996 Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Human molecular genetics 67 8845846
1996 Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature genetics 62 8630505
2009 In vitro culture and somatic cell nuclear transfer affect imprinting of SNRPN gene in pre- and post-implantation stages of development in cattle. BMC developmental biology 60 19200381
2007 Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clinical chemistry 59 17890436
2008 Loss of methylation imprint of Snrpn in postovulatory aging mouse oocyte. Biochemical and biophysical research communications 57 18381202
2014 Effect of oocyte vitrification on deoxyribonucleic acid methylation of H19, Peg3, and Snrpn differentially methylated regions in mouse blastocysts. Fertility and sterility 56 25064401
2014 Human in vitro oocyte maturation is not associated with increased imprinting error rates at LIT1, SNRPN, PEG3 and GTL2. Human reproduction (Oxford, England) 55 24963167
1995 Structurally related but functionally distinct yeast Sm D core small nuclear ribonucleoprotein particle proteins. Molecular and cellular biology 54 7799953
2001 A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Human molecular genetics 51 11159938
1999 Prader-Willi syndrome is caused by disruption of the SNRPN gene. American journal of human genetics 51 9915945
2006 Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome. Clinical chemistry 49 16574761
2006 Bovine SNRPN methylation imprint in oocytes and day 17 in vitro-produced and somatic cell nuclear transfer embryos. Biology of reproduction 49 16790688
1999 The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Human molecular genetics 47 9931342
1999 In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. Human molecular genetics 45 10072422
2004 SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Human genetics 44 15014980
2004 Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells. Nucleic acids research 39 15004243
1993 Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Human molecular genetics 39 8111365
2001 SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development. Genes, chromosomes & cancer 38 11746975
1996 The human/mouse imprinted genes IGF2, H19, SNRPN and ZNF127 map to two conserved autosomal clusters in a marsupial. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 37 8817070
1996 Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet (London, England) 37 8874459
2005 Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic acids research 36 16116039
2016 The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1. Scientific reports 35 27430727
2019 TET3 prevents terminal differentiation of adult NSCs by a non-catalytic action at Snrpn. Nature communications 34 30979904
1998 Structure and function correlations at the imprinted mouse Snrpn locus. Mammalian genome : official journal of the International Mammalian Genome Society 34 9745031
1996 Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. Journal of medical genetics 34 9004133
2009 Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. European journal of human genetics : EJHG 32 19471314
1999 Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci. Nucleic acids research 32 10556313
1998 Imprinted expression of SNRPN in human preimplantation embryos. American journal of human genetics 32 9758597
2006 Methylation status of imprinting centers for H19/IGF2 and SNURF/SNRPN in primate embryonic stem cells. Stem cells (Dayton, Ohio) 31 17170068
2000 Relative locations of the centromere and imprinted SNRPN gene within chromosome 15 territories during the cell cycle in HL60 cells. Journal of cell science 30 10825289
1995 Ubiquitous expression and imprinting of Snrpn in the mouse. Mammalian genome : official journal of the International Mammalian Genome Society 30 7647462
1990 Longitudinal analysis of antibodies to histones, Sm-D peptides and ubiquitin in the serum of patients with systemic lupus erythematosus, rheumatoid arthritis and tuberculosis. Clinical and experimental rheumatology 28 2175685
1999 Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice. Mammalian genome : official journal of the International Mammalian Genome Society 27 10341083
2015 Epigenetic consequences of artificial reproductive technologies to the bovine imprinted genes SNRPN, H19/IGF2, and IGF2R. Frontiers in genetics 26 25763013
1999 Methylation imprinting of H19 and SNRPN genes in human benign ovarian teratomas. American journal of human genetics 24 10521301
1993 C-reactive protein (CRP) binding to the Sm-D protein of snRNPS. Identification of a short polypeptide binding region. Molecular immunology 24 8502240
1992 Mapping of the immunoreactive domains of a small nuclear ribonucleoprotein-associated Sm-D autoantigen. Clinical immunology and immunopathology 23 1280541
2013 Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. American journal of medical genetics. Part A 22 24311433
2022 Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by regulating TXNIP via dual way in diabetic kidney disease. Cell proliferation 21 36316968
2012 Compromised fertility disrupts Peg1 but not Snrpn and Peg3 imprinted methylation acquisition in mouse oocytes. Frontiers in genetics 21 22798963
2006 Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain. Journal of human genetics 21 16429232
2002 Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Human molecular genetics 19 12075010
2018 Novel Epigenomic Biomarkers of Male Infertility Identified by Methylation Patterns of CpG Sites Within Imprinting Control Regions of H19 and SNRPN Genes. Omics : a journal of integrative biology 18 29708855
2015 Effect of BIX-01294 on H3K9me2 levels and the imprinted gene Snrpn in mouse embryonic fibroblast cells. Bioscience reports 17 26285804
2010 Variable methylation of the imprinted gene, SNRPN, supports a relationship between intracranial germ cell tumours and neural stem cells. Journal of neuro-oncology 17 20582452
2020 Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations. Journal of cellular and molecular medicine 16 32693431
2007 Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter. Journal of human genetics 16 17262171
1997 Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome research 16 9199937
1996 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. Gynecologic and obstetric investigation 16 8821886
2001 Structural analysis of TCRalpha and beta chains from human T-Cell clones specific for small nuclear ribonucleoprotein polypeptides Sm-D, Sm-B and U1-70 kDa: TCR complementarity determining region 3 usage appears highly conserved. Scandinavian journal of immunology 15 11439168
2017 A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype. European journal of medical genetics 14 28554868
1999 Diverse antibody recognition patterns of the multiple Sm-D antigen polypeptides. Clinical immunology (Orlando, Fla.) 14 10444365
1997 Loss of H19 imprinting and up-regulation of H19 and SNRPN in a case with malignant mixed Müllerian tumor of the uterus. Human pathology 14 9224757
1993 Antibody recognition of the recombinant human nuclear antigens RNP 70 kD, SS-A, SS-B, Sm-B, and Sm-D by autoimmune sera. Molecular immunology 14 8232335
2008 Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene. Gene 13 19095049
2003 Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis (New York, N.Y. : 2000) 13 14666508
1996 Maternal and paternal genomes function independently in mouse ova in establishing expression of the imprinted genes Snrpn and Igf2r: no evidence for allelic trans-sensing and counting mechanisms. The EMBO journal 13 8947024
1992 Overproduction of a human snRNP-associated Sm-D autoantigen in Escherichia coli and Saccharomyces cerevisiae. Gene 13 1387379
1992 The murine Sm-D autoantigen: multiple genes, genetic polymorphism, evolutionary conservation and lack of intervening sequences in the coding region. Journal of autoimmunity 13 1388635
2012 Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 12 22801776
2007 A targeted deletion upstream of Snrpn does not result in an imprinting defect. Mammalian genome : official journal of the International Mammalian Genome Society 12 17514346
1997 Identification of novel exons 3' to the human SNRPN gene. Genomics 12 9070929
1996 Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. American journal of medical genetics 11 8723064
2001 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. Human genetics 10 11281449
2022 Is there any effect on imprinted genes H19, PEG3, and SNRPN during AOA? Open medicine (Warsaw, Poland) 9 35071778
1998 Clinical management of a rare de novo translocation 46,X,t(Y;15) (p11.2 approximately 11.3;q11.2).ish t(Y;15)(DYZ3+,AMELY+,SNRPN+;D15Z+) found prenatally. Prenatal diagnosis 9 9556048
2018 ART manipulation after controlled ovarian stimulation may not increase the risk of abnormal expression and DNA methylation at some CpG sites of H19,IGF2 and SNRPN in foetuses: a pilot study. Reproductive biology and endocrinology : RB&E 8 29976200
2012 Molecular characterization of porcine NECD, SNRPN and UBE3A genes and imprinting status in the skeletal muscle of neonate pigs. Molecular biology reports 8 22711311
2012 Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders. Frontiers in genetics 8 23226156
2007 Methylation status of the SNRPN and HUMARA genes in testicular biopsy samples. Fertility and sterility 8 17207798
1999 Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 8 10229769
1994 Mice lacking Snrpn expression show normal regulation of neuronal alternative splicing events. Molecular biology reports 8 7845394
2000 Use of terminal transferase-dependent antisense RNA amplification to determine the transcription start site of the Snrpn gene in individual neurons. Nucleic acids research 7 10710442
2017 Altered methylations of H19, Snrpn, Mest and Peg3 are reversible by developmental reprogramming in kidney tissue of ICSI-derived mice. Scientific reports 6 28931827
2016 Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight. Journal of genetics 6 27659333
2012 DNA methyltransferase 1 (Dnmt1) mutation affects Snrpn imprinting in the mouse male germ line. Genome 6 22967183
2001 The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting. Genes to cells : devoted to molecular & cellular mechanisms 6 11733034
2022 IGF2R, KCNQ1, PLAGL1, and SNRPN DNA methylation is completed in bovine by the early antral follicle stage. Molecular reproduction and development 5 35698757

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