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1

Cloning of the lymphoid enhancer binding factor-1 (Lef-1) cDNA from rat kidney: Homology to the mouse sequence

100%

Kobielak K., Kobielak A., Trzeciak W. H.

Acta Biochimica Polonica

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1999

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vol. 46

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issue 4

885-888

EN

We have cloned and sequenced rat cDNA that encodes the Lef-1 protein. The cDNA, containing 1194 nt exhibits 94% similarity to the mouse Lef-1 cDNA. The deduced amino-acids sequence of rat Lef-1 protein, consisting of 397 amino acids, exhibited 98% homology with the known sequence of mouse Lef-1 protein.

2

A novel isoform of human lymphoid enhancer-binding factor-1 (LEF-1) gene transcript encodes a protein devoid of HMG domain and nuclear localization signal.

100%

Kobielak A., Kobielak K., Trzeciak W. H.

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2001

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vol. 48

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issue 1

221-226

EN

Lymphoid enhancer-binding factor-1 (LEF-1), a member of the high mobility group (HMG) family of proteins, regulates expression of T-cell receptor-α gene and is one of the key regulatory molecules in the epithelial-mesenchymal interactions during embryonic development. Among others, LEF-1 regulates expression of cytokeratin genes involved in formation of hair follicles and the gene encoding the cell-adhesion molecule E-cadherin. Transcription factor LEF-1, which acts as a dimer, binds β-catenin and is involved in signal transduction by the wnt pathway. We have cloned and sequenced a novel isoform of human LEF-1 gene transcript. This isoform encodes a truncated protein devoid of HMG domain and nuclear localization signal but retaining β-catenin binding domain. This isoform might either act in a dominant-negative manner by interfering with native LEF-1, or might bind β-catenin in the cytosol, which would result in attenuation of the signals transmitted by theLEF-b-catenin pathway.

3

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

100%

Kobielak A., Kobielak K., Biedziak B., Trzeciak W. H.

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2003

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vol. 50

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issue 1

255-258

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.

4

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

100%

Kobielak K., Kobielak A., Limon J., Trzeciak W. H.

Acta Biochimica Polonica

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1998

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vol. 45

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issue 1

245-250

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1 Limon J.

Cloning of the lymphoid enhancer binding factor-1 (Lef-1) cDNA from rat kidney: Homology to the mouse sequence

A novel isoform of human lymphoid enhancer-binding factor-1 (LEF-1) gene transcript encodes a protein devoid of HMG domain and nuclear localization signal.

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

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