Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

Runte, Maren; Faerber, Claudia; Lich, Christina; Zeschnigk, Michael; Buchholz, Tina; Smith, Arabella; Maldergem, Lionel Van; Buerger, J.; Muscatelli, Françoise; Gillessen‐Kaesbach, Gabriele; Horsthemke, B; Buiting, Karin

doi:10.1038/sj.ejhg.5200661

Cited by 13 publications

(4 citation statements)

References 30 publications

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“…Some, like the Gnas locus [1], encode multiple gene products, including splice variants transcribed from different promoters, each with a different pattern of imprinting. At others, silencing of a protein-coding transcript results in cis from the production of an anti-sense, non-coding RNA transcript, which may be processed into various small RNA products, such as microRNAs and snoRNAs (e.g., the Ube3a-ATS transcript, which regulates genes associated with Angelman and Prader-Willi Syndromes [2]). Some loci show tissue-specific imprinting, with monoallelic expression in some cell types, and biallelic expression in others.…”

Section: Genomic Imprintingmentioning

confidence: 99%

Genomic Imprinting of Grb10 : Coadaptation or Conflict?

Wilkins

2014

PLoS Biol

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Section: Genomic Imprintingmentioning

confidence: 99%

Genomic Imprinting of Grb10 : Coadaptation or Conflict?

Wilkins

2014

PLoS Biol

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“…5B,C). PWS is a neurodevelopmental disease, generally caused by a 4 Mb deletion on chromosome 15q11-13, a region which has been reported to be paternally imprinted (Runte et al 2001;Stefan et al 2005). In addition to severe obesity due to hyperphagia, PWS patients also exhibit behavioral deficits such as varying grades of mental retardation (Roof et al 2000).…”

Section: Differentially Expressed Ncrnas In Young Mice Of the 3xtg Momentioning

confidence: 99%

Generation of a neuro-specific microarray reveals novel differentially expressed noncoding RNAs in mouse models for neurodegenerative diseases

Gstir

Schafferer

Scheideler

et al. 2014

RNA

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We have generated a novel, neuro-specific ncRNA microarray, covering 1472 ncRNA species, to investigate their expression in different mouse models for central nervous system diseases. Thereby, we analyzed ncRNA expression in two mouse models with impaired calcium channel activity, implicated in Epilepsy or Parkinson's disease, respectively, as well as in a mouse model mimicking pathophysiological aspects of Alzheimer's disease. We identified well over a hundred differentially expressed ncRNAs, either from known classes of ncRNAs, such as miRNAs or snoRNAs or which represented entirely novel ncRNA species. Several differentially expressed ncRNAs in the calcium channel mouse models were assigned as miRNAs and target genes involved in calcium signaling, thus suggesting feedback regulation of miRNAs by calcium signaling. In the Alzheimer mouse model, we identified two snoRNAs, whose expression was deregulated prior to amyloid plaque formation. Interestingly, the presence of snoRNAs could be detected in cerebral spine fluid samples in humans, thus potentially serving as early diagnostic markers for Alzheimer's disease. In addition to known ncRNAs species, we also identified 63 differentially expressed, entirely novel ncRNA candidates, located in intronic or intergenic regions of the mouse genome, genomic locations, which previously have been shown to harbor the majority of functional ncRNAs.

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“…The result revealed that the patient did not have an imprinting mutation. Typical PWS cases involving patients with imprinting mutation are suggested to have only a maternal methylation pattern, but recently some cases of atypical PWS have been reported to have a normal and aberrant mixed methylation pattern in which a normal pattern at SNURF‐SNRPN exon1 and an abnormal pattern at D15S63 (PW71) were detected 12 . Interestingly, those two patients had a weak maternal band and a strong paternal band at the CfoI site within PW71/exon u1A (i.e.…”

Section: Discussionmentioning

confidence: 99%