Other search tools

About this data

The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

If you have any questions or comments, please contact us.

Results: 11 to 17 of 17

Publication Record

Connections

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH
(1996) Am J Med Genet 66: 77-80
MeSH Terms: Autoantigens, DNA Methylation, Exons, Female, Genetic Markers, Genomic Imprinting, Humans, Male, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, snRNP Core Proteins
Show Abstract · Added February 20, 2014
Prader-Willi syndrome (PWS) is caused by absence of a paternal contribution of the chromosome region 15q11-q13, resulting from paternal deletions, maternal uniparental disomy, or rare imprinting mutations. Laboratory diagnosis is currently performed using fluorescence in situ hybridization (FISH), DNA polymorphism (microsatellite) analysis, or DNA methylation analysis at locus PW71 (D15S63). We examined another parent-of-origin-specific DNA methylation assay at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N gene (SNRPN) in patients referred with clinical suspicion of PWS or Angelman syndrome (AS). These included 30 PWS and 17 AS patients with known deletion or uniparental disomy status, and a larger cohort of patients (n = 512) suspected of PWS who had been analyzed previously for their methylation status at the PW71 locus. Results of SNRPN methylation were consistent with known deletion or uniparental disomy (UPD) status as determined by other molecular methods in all 47 cases of PWS and AS. In the larger cohort of possible PWS patients, SNRPN results were consistent with clinical diagnosis by examination and with PW71 methylation results in all cases. These data provide support for the use of SNRPN methylation as a diagnostic method. Because methylation analysis can detect all three major classes of genetic defects associated with PWS (deletion, UPD, or imprinting mutations), methylation analysis with either PW71 or SNRPN is an efficient primary screening test to rule out a diagnosis of PWS. Only patients with an abnormal methylation result require further diagnostic investigation by FISH or DNA polymorphism analysis to distinguish among the three classes for accurate genetic counseling and recurrence-risk assessment.
0 Communities
1 Members
0 Resources
11 MeSH Terms
Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.
Ning Y, Roschke A, Christian SL, Lesser J, Sutcliffe JS, Ledbetter DH
(1996) Genome Res 6: 742-6
MeSH Terms: Chromosome Mapping, DNA, Complementary, Genome, Human, Humans, Molecular Sequence Data, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, Transcription, Genetic
Show Abstract · Added February 20, 2014
Small nuclear ribonucleoprotein-associated polypeptide N (snRPN) and an anonymous transcript, PAR-5, are two of the paternally expressed transcripts mapped to the Prader-Willi syndrome critical region. Using long-range PCR, we have isolated the genomic interval between snRPN and PAR-5, identified a novel transcript in this region, and termed it PAR-SN. Northern analysis demonstrates that PAR-SN is expressed in brain, skeletal muscle, and heart. Like snRPN and PAR-5, PAR-SN is expressed exclusively from the paternal homolog in cultured lymphoblasts. Sequence analysis of the transcript revealed no significant open reading frame but did include a polymorphic dinucleotide repeat (CA)17.
0 Communities
1 Members
0 Resources
8 MeSH Terms
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ
(1996) Am J Med Genet 63: 414-5
MeSH Terms: Angelman Syndrome, Autoantigens, Blotting, Southern, CpG Islands, DNA Methylation, DNA Probes, Exons, Genomic Imprinting, Humans, Mutation, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, snRNP Core Proteins
Added February 20, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH
(1993) Genomics 18: 546-52
MeSH Terms: Angelman Syndrome, Autoantigens, Base Sequence, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 15, DNA Primers, DNA Probes, Female, Gene Library, Genetic Markers, Humans, Male, Molecular Sequence Data, Polymerase Chain Reaction, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, snRNP Core Proteins
Show Abstract · Added February 20, 2014
Since a previous report of a partial YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13), a complete contig spanning approximately 3.5 Mb has been developed. YACs were isolated from two human genomic libraries by PCR and hybridization screening methods. Twenty-three sequence-tagged sites (STSs) were mapped within the contig, a density of approximately 1 per 200 kb. Overlaps between YAC clones were identified by Alu-PCR dot-blot analysis and confirmed by STS mapping or hybridization with ends of YAC inserts. The gene encoding small nuclear ribonucleoprotein-associated peptide N (SNRPN), recently identified as a candidate gene for Prader-Willi syndrome, was localized within this contig between markers PW71 and TD3-21. Loci mapped within and immediately flanking the Prader-Willi/Angelman chromosome region contig are ordered as follows: cen-IR39-ML34-IR4-3R-TD189-1-PW71-SNRPN -TD3-21- LS6-1-GABRB3,D15S97-GABRA5-IR10-1-CMW1+ ++-tel. This YAC contig will be a useful resource for more detailed physical mapping of the region, for generation of new DNA markers, and for mapping or cloning candidate genes for the Prader-Willi and Angelman syndromes.
0 Communities
1 Members
0 Resources
18 MeSH Terms
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL
(1994) Hum Mol Genet 3: 309-15
MeSH Terms: Angelman Syndrome, Animals, Autoantigens, Base Sequence, Cells, Cultured, Chromosomes, Human, Pair 15, DNA, Complementary, Female, Gene Expression Regulation, Genes, Humans, Male, Mice, Molecular Sequence Data, Parents, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, Ubiquitin-Protein Ligases, Viral Proteins, snRNP Core Proteins
Show Abstract · Added February 20, 2014
In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequently used to screen human cDNA libraries. A mouse brain cDNA probe was effective in detecting control genes of various abundance including small nuclear ribonucleoprotein polypeptide N (SNRPN), hypoxanthine-guanine phosphoribosyl transferase, glyceraldehyde-3-phosphate dehydrogenase, and beta-actin. Two genes mapping within the Angelman syndrome critical region were isolated. One gene was found to encode the E6-associated protein (E6-AP; gene symbol HPVE6A), a protein which interacts with the E6 protein of human papilloma virus. The other gene is previously uncharacterized and is designated PAR-2 (D15S225E) for Prader-Willi and Angelman region-gene 2. 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. The ability to analyze for imprinting and expression of SNRPN and other genes in this region in cultured human cells will be a valuable tool for analyzing the molecular basis of the Prader-Willi and Angelman syndromes, although imprinting may differ between cultured cells and tissues.(ABSTRACT TRUNCATED AT 250 WORDS)
0 Communities
1 Members
0 Resources
20 MeSH Terms
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL
(1994) Nat Genet 8: 52-8
MeSH Terms: Angelman Syndrome, Autoantigens, Base Sequence, Chromosomes, Human, Pair 15, Dinucleoside Phosphates, Fathers, Genomic Imprinting, Humans, Molecular Sequence Data, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, Sequence Deletion, snRNP Core Proteins
Show Abstract · Added February 20, 2014
To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), we have isolated new transcripts from chromosome 15q11-q13. 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. 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. The smallest PWS deletion is familial and asymptomatic with maternal transmission. Our data imply the presence of a paternal imprinting control region near exon alpha.
0 Communities
1 Members
0 Resources
13 MeSH Terms
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.
Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC
(1995) Genes Dev 9: 808-20
MeSH Terms: Cells, Cultured, Chromosomes, Human, Pair 15, DNA Replication, Female, Genomic Imprinting, Humans, Lymphocytes, Male, Neurons, Prader-Willi Syndrome, Ribonucleoproteins, Small Nuclear, Sequence Deletion, Transcription, Genetic, Tumor Cells, Cultured
Show Abstract · Added February 20, 2014
To examine the relationship between replication timing and differential gene transcription in tissue-specific and imprinted settings we have studied the replication timing properties of the human Prader-Willi syndrome (PWS) region on human chromosome 15q11-13. Interphase fluorescence in situ hybridization with an overlapping series of cosmid clones was used to map a PWS replication timing domain to a 500- to 650-kb region that includes the SNRPN gene. This PWS domain replicates late in lymphocytes but predominantly early in neuroblasts, with replication asynchrony observed in both tissues, and appears to colocalize with a genetically imprinted transcription domain showing prominent expression in the brain. A 5- to 30-kb deletion in the 5' region of SNRPN results in the loss of late replication control of this domain in lymphocytes when the deleted chromosome is inherited paternally. This potential allele-specific replication timing control region also appears to colocalize with a putative imprinting control region that has been shown previously to abolish the expression of three imprinted transcripts in this same region.
0 Communities
1 Members
0 Resources
14 MeSH Terms