Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

被引:11
作者
Kobielak, K
Kobielak, A
Limon, J
Trzeciak, WH
机构
[1] Univ Med Sci, Dept Physiol Chem, PL-60781 Poznan, Poland
[2] Med Univ Gdansk, Dept Biol & Genet, Gdansk, Poland
关键词
ectodermal dysplasia anhidrotic; EDA gene; regulatory region;
D O I
10.18388/abp.1998_4307
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.
引用
收藏
页码:245 / 250
页数:6
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