ArticleAmerican journal of human genetics2000
Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- Mechanism of parent-of-origin effects revealed by multi-omic data in euro-chinese hybrid pigs.Nature communications · 2025Article
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Brain and behavior · 2024Article
- Embryo cryopreservation leads to sex-specific DNA methylation perturbations in both human and mouse placentas.Human molecular genetics · 2022Article
- Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review.International journal of molecular sciences · 2021Review
- Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.Frontiers in endocrinology · 2019Review
- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.Annals of pediatric endocrinology & metabolism · 2016Review
- Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.Scientific reports · 2014Article
- Article
- Insights into synaptic function from mouse models of human cognitive disorders.Future neurology · 2011Article
- Obsessive-compulsive disorder and related disorders: a comprehensive survey.Annals of general psychiatry · 2009Article
- Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.BMC genomics · 2008Article
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Nature reviews. Genetics · 2007Review
- 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 · 2007Article
- Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.Genomics · 2005Article
- Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.Journal of medical genetics · 2003Article
- The imprinted gene and parent-of-origin effect database.Nucleic acids research · 2001Article
- A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.BMC genetics · 2001Article
- Mechanisms of genomic imprinting.American journal of human genetics · 2000Review
- Prader-Willi Syndrome: Clinical and Genetic Findings.The Endocrinologist · 2000Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletions and other abnormalities of human chromosome 15q11-q13 are associated with two developmental disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Loss of expression of imprinted, paternally expressed genes has been implicated in PWS. However, the number of imprinted genes that contribute to PWS, and the range over which the imprinting signal acts to silence one copy of the gene in a parent-of-origin-specific manner, are unknown. To identify additional imprinted genes that could contribute to the PWS phenotype and to understand the regional control of imprinting in 15q11-q13, we have constructed an imprinted transcript map of the PWS-AS deletion interval. The imprinting status of 22 expressed sequence tags derived from the radiation-hybrid human transcript maps or physical maps was determined in a reverse transcriptase-PCR assay and correlated with the position of the transcripts on the physical map. Seven new paternally expressed transcripts localize to an approximately 1.5-Mb domain surrounding the SNRPN-associated imprinting center, which already includes four imprinted, paternally expressed genes. All other tested new transcripts in the deletion region were expressed from both alleles. A domain of exclusive paternal expression surrounding the imprinting center suggests strong regional control of the imprinting process. This study provides the means for further investigation of additional genes that cause or modify the phenotypes associated with rearrangements of 15q11-q13.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.