Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.

American journal of human genetics - 1 Aug 2007

Clapp Jannine, Mitchell Laura M, Bolland Daniel J, Fantes Judy, Corcoran Anne E, Scotting Paul J, Armour John A L, Hewitt Jane E

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within the polymorphic DNA tandem array D4Z4. Each D4Z4 repeat unit has an open reading frame (ORF), termed "DUX4," containing two homeobox sequences. Because there has been no evidence of a transcript from the array, these deletions are thought to cause FSHD by a position effect on other genes. Here, we identify D4Z4 homologues in the genomes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Conserved Sequence
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Mammals

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Primates

Share to Sequence Homology, Amino Acid

Share to Tandem Repeat Sequences

Source

Open in PubMed Open full text

Identifiers

PMID: 17668377
DOI: 10.1086/519311
PMCID: PMC1950813

Genes

DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.PMID 17668377Read ↗

A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX geneSemantic proximity Read ↗

Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4Semantic proximity Read ↗

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhySemantic proximity Read ↗

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophySemantic proximity Read ↗

A unifying genetic model for facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeatsSemantic proximity Read ↗

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral DystrophySemantic proximity Read ↗

Rethinking genomics of Facioscapulohumeral Muscular Dystrophy in the Telomere-to-Telomere era: pitfalls in the hidden landscape of D4Z4 repeatsSemantic proximity Read ↗

Transgenic mouse models for investigating human <i>DUX4</i> expression during development and its roles in FSHD pathophysiologySemantic proximity Read ↗

Facioscapulohumeral Muscular DystrophySemantic proximity Read ↗

Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.