Journal Article10.1038/NG0896-417
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
Heleni Vastardis,Nadeem Y. Karimbux,Symon W. Guthua,Jonathan G. Seidman,Christine E. Seidman,Christine E. Seidman +5 more
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TL;DR: It is suggested that MSX1 functions are critical for normal development of specific human teeth, and an Arg31 Pro missense mutation in the homeodomain of MSx1 in all affected family members is proposed.
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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.
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Citations
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MSX1 mutation in witkop syndrome; a case report.
TL;DR: The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails and a homozygous mutation was identified in 3’-UTR of MSX1 gene in the proband.
5
Body plan genes and human malformation.
TL;DR: The limb is one of the best characterized morphogenetic fields in the developing mammalian embryo and accessibility to experimental manipulations as well as to the possibility of extrapolating to mammals the large body of evidence accumulated in chicken.
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Molecular genetics of hereditary hair and nail disease.
TL;DR: In this review, recent results from studies of syndrome affecting hair and nail development will be discussed and special interest are syndromic disorders as they show the effects of disturbances in molecular pathways that are essential for normal embryonic development.
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Prevalence of congenitally missing second premolar teeth in the Dravidian population.
TL;DR: The prevalence of congenitally missing second premolar teeth in the Dravidian population was 1.02%, which was seen more in girls than boys andMandibular second premolars was the most commonly missing teeth.
4
Developmental Biology: Frontiers for Clinical Genetics
TA Mitsiadis,HU Luder +1 more
- 01 Jan 2011
TL;DR: Teeth arise from sequential and reciprocal interactions between the oralepithelium and the cranial neural crest-derived mesenchyme, which involves a precisely orchestrated series of molecular and morphogenetic events.
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References
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
Ichiro Satokata,Richard L. Maas +1 more
TL;DR: The Msx1 homeobox gene has a critical role in mediating epithelial–mesenchymal interactions during craniofacial bone and tooth development, and provides a genetic model for cleft palate and oligodontia in which the defective gene is known.
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A comprehensive human linkage map with centimorgan density
Jeffrey C. Murray,Kenneth H. Buetow,James L. Weber,Susan Ludwigsen,T. Scherpbier-Heddema,Frank J. Manion,J Quillen,Val C. Sheffield,Sara L.F. Sunden,Geoffrey M. Duyk +9 more
TL;DR: A comprehensive human linkage map is presented here, consisting of 5840 loci, of which 970 are uniquely ordered, covering 4000 centimorgans on the sex-averaged map and achieving one of the first goals of the Human Genome Project--a comprehensive, high-density genetic map.
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