ArticleNature communications2021
Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.European journal of human genetics : EJHG · 2026Article
- Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.Clinical genetics · 2026Article
- Temporal constraints on enhancer usage shape the regulation of limb gene transcription.Nature communications · 2026Article
- Article
- Evolution of cetacean-specific conserved non-coding elements suggests their role in the limb changes during secondary aquatic adaptation.BMC biology · 2025Article
- HOXD1 inhibits lung adenocarcinoma progression and is regulated by DNA methylation.Oncology reports · 2024Article
- Cis-Regulatory Elements in Mammals.International journal of molecular sciences · 2023Review
- Three-dimensional genome structure and function.MedComm · 2023Review
- Sequential and directional insulation by conserved CTCF sites underlies the Hox timer in stembryos.Nature genetics · 2023Article
- Genetic cold cases: lessons from solving complex congenital limb disorders.Genes & development · 2023Review
- Context-dependent enhancer function revealed by targeted inter-TAD relocation.Nature communications · 2022Article
- Developmental and evolutionary comparative analysis of a regulatory landscape in mouse and chicken.Development (Cambridge, England) · 2022Article
- Regulation of posterior Hox genes by sex steroids explains vertebral variation in inbred mouse strains.Journal of anatomy · 2022Review
- baredSC: Bayesian approach to retrieve expression distribution of single-cell data.BMC bioinformatics · 2022Article
- Sequential inGenes & development · 2021Article
- Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations.Nature communications · 2021Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Human families with chromosomal rearrangements at 2q31, where the human HOXD locus maps, display mesomelic dysplasia, a severe shortening and bending of the limb. In mice, the dominant Ulnaless inversion of the HoxD cluster produces a similar phenotype suggesting the same origin for these malformations in humans and mice. Here we engineer 1 Mb inversion including the HoxD gene cluster, which positioned Hoxd13 close to proximal limb enhancers. Using this model, we show that these enhancers contact and activate Hoxd13 in proximal cells, inducing the formation of mesomelic dysplasia. We show that a secondary Hoxd13 null mutation in-cis with the inversion completely rescues the alterations, demonstrating that ectopic HOXD13 is directly responsible for this bone anomaly. Single-cell expression analysis and evaluation of HOXD13 binding sites suggests that the phenotype arises primarily by acting through genes normally controlled by HOXD13 in distal limb cells. Altogether, these results provide a conceptual and mechanistic framework to understand and unify the molecular origins of human mesomelic dysplasia associated with 2q31.
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