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Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.

Human molecular genetics - 19 Sept 2024

Gutierrez Fugón Orangel J, Sharifi Osman, Heath Nicholas, Soto Daniela C, Gomez J Antonio, Yasui Dag H, Mendiola Aron Judd P, O'Geen Henriette, Beitnere Ulrika, Tomkova Marketa, Haghani Viktoria, Dillon Greg, Segal David J, LaSalle Janine M

Abstract excerpt

Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense transcript UBE3A-ATS, a lncRNA that terminates at...

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Share to Angelman Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

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Share to RNA, Long Noncoding

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Identifiers

PMID: 39045627
DOI: 10.1093/hmg/ddae111
PMCID: PMC11413648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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