PubMed:15744456 JSONTXT

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    DisGeNET5_gene_disease

    {"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"}],"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."}

    DisGeNET

    {"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/"}],"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."}