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

• Authors: Agnieszka Kobielak , Krzysztof Kobielak , Barbara Biedziak , Wieslaw H. Trzeciak
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

ectodysplasin-A; EDA1 gene; A1270G; Tyr336Cys

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2003
• Volume: 50
• Issue: 1
• Pages: 255-258

Dates

published

2003

received

2003-02-26

revised

2003-03-01

accepted

2003-03-03

Contributors

author

Agnieszka Kobielak

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznań, Poland

author

Krzysztof Kobielak

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznań, Poland

author

Barbara Biedziak

• Department of Orthodontics, University of Medical Sciences, Poznań, Poland

author

Wieslaw H. Trzeciak

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznań, Poland

References

• Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J. (1998) Hum Mol Genet.; 7: 1661-9.
• Chen Y, Molloy SS, Thomas L, Gambee J, Bachinger HP, Ferguson B, Zonana J, Thomas G, Morris NP. (2001) Proc Natl Acad Sci U S A.; 98: 7218-23.
• Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J. (2001) Hum Mol Genet.; 10: 953-62.
• Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J. (1999) Hum Mol Genet.; 8: 2079-86.
• Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A. (1996) Nat Genet.; 13: 409-16.
• Kobielak K, Kobielak A, Roszkiewicz J, Limon J, Trzeciak WH. (2000) Pediatr Pathol Mol Med.; 19: 425-32.
• Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak WH (2001) Am J Med Genet.; 100: 191-7.
• McKusick VA. (1998) Mendelian inheritance in man. 12th edn. Johns Hopkins University Press, Baltimore.
• Mikkola ML, Pispa J, Pekkanen M, Paulin L, Nieminen P, Kere J, Thesleff I. (1999) Mech Dev.; 88: 133-46.
• Monreal AW, Zonana J, Ferguson B. (1998) Am J Hum Genet.; 63: 380-9.
• Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. (2001) J Biol Chem.; 276: 18819-27.
• Tucker AS, Headon DJ, Schneider P, Ferguson BM, Tshopp J, Sharpe PT. (2000) Development.; 127: 4691-700.