ArticleScientific reports2018
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Temporal loss ofGenes & development · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.European journal of human genetics : EJHG · 2025Article
- Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.Molecular biology reports · 2025Article
- A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.Nature communications · 2024Article
- Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.Nature communications · 2024Article
- The emergence of the stem cell niche.Trends in cell biology · 2023Review
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.Molecular genetics & genomic medicine · 2022Article
- Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.Nature communications · 2021Article
- Rare andJournal of medical genetics · 2020Article
- Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression.Molecular genetics and genomics : MGG · 2020Article
- Heterozygous Deletion of theFrontiers in genetics · 2019Article
- RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs. We searched for these active sequences using a transgenic mouse assay and identified a 563 basepair (bp) enhancer with specific activity in the limb regions where SHOX functions. This enhancer has previously escaped notice because of its poor evolutionary conservation, although it does contain 100 bp that are conserved in non-rodent mammals. A primary cell luciferase assay confirmed the enhancer activity of the conserved core sequence and demonstrated that putative HOX binding sites are required for its activity. This enhancer is removed in most non-coding deletions that cause LWD. However, we did not identify any likely pathogenic variants of the enhancer in a screen of 124 LWD individuals for whom no causative mutation had been found, suggesting that only larger deletions in the region commonly cause LWD. We hypothesize that loss of this enhancer contributes to the pathogenicity of deletions downstream of SHOX.
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