Article

Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats

2025-12-25

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is linked to a monoallelic contraction of primate-specific 3.3kb D4Z4 macrosatellite repeats on the disease-permissive chromosome 4q (4qA haplotype) with additional mutations of a chromatin regulator SMCHD1 acting as a disease modifier. DNA hypomethylation at the D4Z4 repeat and resulting abnormal derepression of the embryonic transcription factor DUX4 encoded in the D...

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Literature Corpus work: 328b6cc9-76d1-5aea-8a6c-47ea6bd57087
DOI: 10.64898/2025.12.22.696056

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