PubMed:15744456 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/15744456","sourcedb":"PubMed","sourceid":"15744456","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/15744456","text":"Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells.\nHuman chromosome 15q11-q13 involves a striking imprinted gene cluster of more than 2 Mb that is concomitant with multiple neurological disorders manifested by Prader-Willi syndrome (PWS) and Angelman syndrome (AS). PWS and AS patients with imprinting mutation have microdeletions, which share a 4.3 kb short region of overlap (SRO) at the 5' end of the paternal SNURF-SNRPN gene in PWS, or on the maternal allele, which shares a 880 bp SRO located at the 35 kb upstream of the SNURF-SNRPN promoter in AS. Recent studies have revealed an essential role of PWS-SRO in the postzygotic maintenance of the appropriate epigenotype on the paternal chromosome. For AS-SRO, however, there is insufficient experimental evidence exists to determine the direct functions. Here we show that the complete deletion of AS-SRO does not cause any anomalies of imprinted gene expression or DNA methylation on the mutated human chromosome 15, further supporting the idea that AS-SRO is dispensable for post implantation imprint maintenance. This implies that AS-SRO is not essential for the robust epigenotype preservation in somatic cells.","tracks":[{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15744456-2#147#158#gene6638","span":{"begin":514,"end":525},"obj":"gene6638"},{"id":"15744456-2#262#273#gene6638","span":{"begin":629,"end":640},"obj":"gene6638"},{"id":"15744456-2#0#3#diseaseC0032897","span":{"begin":367,"end":370},"obj":"diseaseC0032897"},{"id":"15744456-2#167#170#diseaseC0032897","span":{"begin":534,"end":537},"obj":"diseaseC0032897"},{"id":"15744456-2#286#288#diseaseC0162635","span":{"begin":653,"end":655},"obj":"diseaseC0162635"}],"relations":[{"id":"147#158#gene66380#3#diseaseC0032897","pred":"associated_with","subj":"15744456-2#147#158#gene6638","obj":"15744456-2#0#3#diseaseC0032897"},{"id":"147#158#gene6638167#170#diseaseC0032897","pred":"associated_with","subj":"15744456-2#147#158#gene6638","obj":"15744456-2#167#170#diseaseC0032897"},{"id":"147#158#gene6638286#288#diseaseC0162635","pred":"associated_with","subj":"15744456-2#147#158#gene6638","obj":"15744456-2#286#288#diseaseC0162635"},{"id":"262#273#gene66380#3#diseaseC0032897","pred":"associated_with","subj":"15744456-2#262#273#gene6638","obj":"15744456-2#0#3#diseaseC0032897"},{"id":"262#273#gene6638167#170#diseaseC0032897","pred":"associated_with","subj":"15744456-2#262#273#gene6638","obj":"15744456-2#167#170#diseaseC0032897"},{"id":"262#273#gene6638286#288#diseaseC0162635","pred":"associated_with","subj":"15744456-2#262#273#gene6638","obj":"15744456-2#286#288#diseaseC0162635"}],"attributes":[{"subj":"15744456-2#147#158#gene6638","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15744456-2#262#273#gene6638","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15744456-2#0#3#diseaseC0032897","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15744456-2#167#170#diseaseC0032897","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"15744456-2#286#288#diseaseC0162635","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":514,"end":525},"obj":"gene:6638"},{"id":"T1","span":{"begin":534,"end":537},"obj":"disease:C0032897"},{"id":"T2","span":{"begin":514,"end":525},"obj":"gene:6638"},{"id":"T3","span":{"begin":653,"end":655},"obj":"disease:C0162635"},{"id":"T4","span":{"begin":629,"end":640},"obj":"gene:6638"},{"id":"T5","span":{"begin":653,"end":655},"obj":"disease:C0162635"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_gene_disease","color":"#ec93b5","default":true},{"id":"DisGeNET","color":"#93cfec"}]}]}}