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

• Autorzy: Kobielak K. , Kobielak A. , Limon J. , Trzeciak W.H.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

dysplasia; ectodermal dysplasia anhidrotic gene; regulatory region; anhidrotic ectodermal dysplasia; SSCP method

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1998
• Tom: 45
• Numer: 1
• Opis fizyczny: p.245-250,fig.

Twórcy

autor

Kobielak K.

• University of Medical Sciences, H.Swiecickiego 6, 60-781 Poznan, Poland

autor

Kobielak A.

autor

Limon J.

autor

Trzeciak W.H.

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