A human MSX1 homeodomain missense mutation causes selective tooth agenesis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-08

AUTHORS

H Vastardis, N Karimbux, S W Guthua, J G Seidman, C E Seidman

ABSTRACT

We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis. Genetic linkage analyses in a family with autosomal dominant agenesis of second premolars and third molars identified a locus on chromosome 4p, where the MSX1 gene resides. Sequence analyses demonstrated an Arg31Pro missense mutation in the homeodomain of MSX1 in all affected family members. Arg 31 is a highly conserved homeodomain residue that interacts with the ribose phosphate backbone of target DNA. We propose that the Arg31 Pro mutatrion comprises MSX1 interactions, and suggest that MSX1 functions are critical for normal development of specific human teeth. More... »

PAGES

417-421

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0896-417

DOI

http://dx.doi.org/10.1038/ng0896-417

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1047735800

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8696335


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