Proceedings of the National Academy of Sciences · 1997 · 312 citations · 27 references
Life SciencesGeneticsMolecular GeneticsEmbryogenesisGene ExpressionHuman GeneticsEctodermal DifferentiationEctodermal DysplasiasEccrine Gland DisordersEccrine GlandsEccrine Sweat SecretionEmbryonic Development GeneticsEpidermal Structural ProteinsPoint Mutation EffectsTa DiseaseTransmembrane Protein Topology
Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene. The gene is altered in two Ta alleles with a point mutation or a deletion. The gene is expressed in developing teeth and epidermis; no expression is seen in corresponding tissues from Ta mice. Ta and EDA genes both encode alternatively spliced forms; novel exons now extend the 3' end of the EDA gene. All transcripts recovered have the same 5' exon. The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development.
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Functional interaction of β-catenin with the transcription factor LEF-1
Jürgen Behrens, Jens Peter von Kries, Michael Kühl et al. · Nature · 1996 · 2.9K citations