ArticleAmerican journal of human genetics2003
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- A misplaced lncRNA causes brachydactyly in humans.The Journal of clinical investigation · 2012Trial
- Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.Advanced genetics (Hoboken, N.J.) · 2025Article
- Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.Frontiers in endocrinology · 2025Article
- DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.Nature communications · 2024Article
- A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Molecular genetics & genomic medicine · 2024Article
- Near-chromosomal de novo assembly of Bengal tiger genome reveals genetic hallmarks of apex predation.GigaScience · 2022Article
- A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.BMC pediatrics · 2022Article
- Diversification and Functional Evolution of HOX Proteins.Frontiers in cell and developmental biology · 2022Review
- A Novel Missense Variant ofFrontiers in genetics · 2021Article
- A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.Molecular genetics & genomic medicine · 2020Article
- A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.Chinese medical journal · 2019Article
- Article
- What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.BMC medical genetics · 2018Article
- Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.BMJ case reports · 2017Article
- Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.Journal of human genetics · 2016Article
- Advances in the Molecular Genetics of Non-syndromic Syndactyly.Current genomics · 2015Article
- Differential expression of Homeobox C11 protein in water buffalo Bubalus bubalis and its putative 3D structure.BMC genomics · 2014Article
- Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva.Intractable & rare diseases research · 2014Article
- Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).PloS one · 2014Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
HOXD13, the most 5' gene of the HOXD cluster, encodes a homeodomain transcription factor with important functions in limb patterning and growth. Heterozygous mutations of human HOXD13, encoding polyalanine expansions or frameshifts, are believed to act by dominant negative or haploinsufficiency mechanisms and are predominantly associated with synpolydactyly phenotypes. Here, we describe two mutations of HOXD13 (923C-->G encoding Ser308Cys and 940A-->C encoding Ile314Leu) that cause missense substitutions within the homeodomain. Both are associated with distinctive limb phenotypes in which brachydactyly of specific metacarpals, metatarsals, and phalangeal bones is the most constant feature, exhibiting overlap with brachydactyly types D and E. We investigated the binding of synthetic mutant proteins to double-stranded DNA targets in vitro. No consistent differences were found for the Ser308Cys mutation compared with the wild type, but the Ile314Leu mutation (which resides at the 47th position of the homeodomain) exhibited increased affinity for a target containing the core recognition sequence 5'-TTAC-3' but decreased affinity for a 5'-TTAT-3' target. Molecular modeling of the Ile314Leu mutation indicates that this mixed gain and loss of affinity may be accounted for by the relative positions of methyl groups in the amino acid side chain and target base.
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