>
Fa   |   Ar   |   En
   Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia  
   
نویسنده yang y. ,luo l. ,xu j. ,zhu p. ,xue w. ,wang j. ,li w. ,wang m. ,cheng k. ,liu s. ,tang z. ,ring b.z. ,su l.
منبع journal of dental research - 2013 - دوره : 92 - شماره : 6 - صفحه:500 -506
چکیده    Hypodontia,a tooth developmental disease,can affect chewing and pronunciation. mutations in the ectodysplasin-a (eda) gene can lead to both x-linked hypohidrotic ectodermal dysplasia (xlhed) and non-syndromic hypodontia (nsh). however,the mechanism by which these 2 related but different disorders are caused by the distinct mutations in eda is unknown. in this study,we identified a novel missense mutation (c.779 t>g) in a chinese family with nsh via a direct sequencing approach. this mutation results in an ile260ser substitution in the tumor necrosis factor (tnf) homology domain. homology modeling suggests that this alteration may induce a conformational change in the hydrophobic center of the tnf homology domain. furthermore,by exploring systematic 3d conformation analysis and calculation of residue relative solvent accessibility (rsa) for all the reported mutated amino acid sites on eda's tnf homology domain,we found that the site mutations at the interior may be linked to xlhed,while those at the surface are more likely to be associated with nsh. these findings may aid in the discovery of unidentified functionally significant mutation sites in the eda gene and provide a new way to clarify the mechanisms by which the xlhed and nsh phenotypes arise from mutations in the same gene. © international & american associations for dental research.
کلیدواژه EDA; missense mutation; non-syndromic hypodontia; residue relative solvent accessibility; TNF homoldomain; X-linked hypohidrotic ectodermal dysplasia
آدرس department of stomatology,zhongnan hospital,wuhan university,wuhan, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, affiliated hospital,huazhong university of science and technology, China, affiliated hospital,huazhong university of science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, wuhan foreign languages school,wuhan, China, biomolecular physics and modeling group,department of physics,huazhong university of science and technology,wuhan, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China, key laboratory of molecular biophysics,ministry of education,school of life science and technology, China
 
     
   
Authors
  
 
 

Copyright 2023
Islamic World Science Citation Center
All Rights Reserved