ArticleBMC evolutionary biology2009
Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.
Article in BMC evolutionary biology, 2009. 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, 37 citations in OpenAlex.
- Article
- Article
- Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.Human genome variation · 2021Article
- A role for Msx genes in mammalian embryonic diapause.Bioscientifica proceedings · 2020Article
- Homeobox genes for embryo implantation: From mouse to human.Animal models and experimental medicine · 2018Review
- Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.Scientific reports · 2016Article
- Uterine inactivation of muscle segment homeobox (Msx) genes alters epithelial cell junction proteins during embryo implantation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- Endothelial Msx1 transduces hemodynamic changes into an arteriogenic remodeling response.The Journal of cell biology · 2015Article
- Age distribution patterns of human gene families: divergent for Gene Ontology categories and concordant between different subcellular localizations.Molecular genetics and genomics : MGG · 2014Article
- Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.PloS one · 2014Article
- MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.Clinics (Sao Paulo, Brazil) · 2012Article
- Conditional deletion of Msx homeobox genes in the uterus inhibits blastocyst implantation by altering uterine receptivity.Developmental cell · 2011Article
- Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2011Article
- Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.European journal of human genetics : EJHG · 2011Article
- Conservation, development, and function of a cement gland-like structure in the fish Astyanax mexicanus.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Pitfalls in the phylogenomic evaluation of human disease-causing mutations.Journal of biology · 2009Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMsx originated early in animal evolution and is implicated in human genetic disorders. To reconstruct the functional evolution of Msx and inform the study of human mutations, we analyzed the phylogeny and synteny of 46 metazoan Msx proteins and tracked the duplication, diversification and loss of conserved motifs.
resultsVertebrate Msx sequences sort into distinct Msx1, Msx2 and Msx3 clades. The sister-group relationship between MSX1 and MSX2 reflects their derivation from the 4p/5q chromosomal paralogon, a derivative of the original "MetaHox" cluster. We demonstrate physical linkage between Msx and other MetaHox genes (Hmx, NK1, Emx) in a cnidarian. Seven conserved domains, including two Groucho repression domains (N- and C-terminal), were present in the ancestral Msx. In cnidarians, the Groucho domains are highly similar. In vertebrate Msx1, the N-terminal Groucho domain is conserved, while the C-terminal domain diverged substantially, implying a novel function. In vertebrate Msx2 and Msx3, the C-terminal domain was lost. MSX1 mutations associated with ectodermal dysplasia or orofacial clefting disorders map to conserved domains in a non-random fashion.
conclusionMsx originated from a MetaHox ancestor that also gave rise to Tlx, Demox, NK, and possibly EHGbox, Hox and ParaHox genes. Duplication, divergence or loss of domains played a central role in the functional evolution of Msx. Duplicated domains allow pleiotropically expressed proteins to evolve new functions without disrupting existing interaction networks. Human missense sequence variants reside within evolutionarily conserved domains, likely disrupting protein function. This phylogenomic evaluation of candidate disease markers will inform clinical and functional studies.
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