A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia. | Zendy

Agnieszka Kobielak | Zendy; Krzysztof Kobielak | Zendy; Barbara Biedziak | Zendy; Wiesław H. Trzeciak | Zendy

Open Access

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.

Author(s) -

Agnieszka Kobielak,

Krzysztof Kobielak,

Barbara Biedziak,

Wiesław H. Trzeciak

Publication year - 2003

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2003_3734

Subject(s) - ectodermal dysplasia , mutation , exon , genetics , hypohidrotic ectodermal dysplasia , transition (genetics) , gene , biology , mutant

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.

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