Kobielak Agnieszka, Kobielak Krzysztof, Biedziak Barbara, Trzeciak Wieslaw H
Department of Biochemistry and Molecular Biology, University of Medical Sciences, Ponań, Poland.
Acta Biochim Pol. 2003;50(1):255-8.
The structure of the EDA1 gene was investigated in a patient with anhidrotic ectodermal dysplasia. Sequence analysis revealed a novel A1270G transition in exon 9 of the EDA1 gene in the patient and his uncle, whereas the patient's mother and grandmother were heterozygotes. This mutation resulted in Tyr343Cys substitution in the extracellular domain of the EDA1 gene product - ectodysplasin-A. The additional Cys343 was located between Cys332 and Cys346 and formed with Cys352 a cluster of four closely situated residues that could potentially form disulfide bonds. This mutation might affect the tertiary structure of the receptor-binding domain of ectodysplasin-A and precipitate the clinical symptoms of anhidrotic ectodermal dysplasia.
对一名无汗性外胚层发育不良患者的EDA1基因结构进行了研究。序列分析显示，该患者及其叔叔的EDA1基因第9外显子存在一个新的A1270G转换，而患者的母亲和祖母为杂合子。该突变导致EDA1基因产物外胚层发育不良蛋白-A的细胞外结构域中发生Tyr343Cys取代。额外的Cys343位于Cys332和Cys346之间，并与Cys352形成了一组四个紧密相邻的残基簇，这些残基可能形成二硫键。该突变可能会影响外胚层发育不良蛋白-A受体结合结构域的三级结构，并引发无汗性外胚层发育不良的临床症状。
