Article Abstract:
A new splice form of the EDA1 (ital) gene has been identified, making detection of almost all X-linked hypohidrotic dysplasia mutations (XLHED) possible. The EDA1 (ital) cDNA splice form is homologous to the murine gene cDNA and codes for a putative, second isoform of the EDA1 protein (isoform II). cDNAs from the homologous murine gene Tabby (Ta) have been found to have alternative exons. Direct diagnosis will make carrier detection possible in families with one affected male. It will be easier to tell XLHED and the more rare autosomal recessive form apart. The IDA1 isoform II seems to have a critical role in hair, tooth and sweat gland morphogenesis. The biological significance of isoform I is not clear.
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Article Abstract:
Marshall syndrome, a rare autosomal dominant skeletal dysplasia phenotypically similar to Stickler syndrome, has been shown to be associated with a splicing defect at the COL11A1 (ital) locus. A large kindred with the syndrome was studied. Findings support the hypothesis that the alpha1(XI) collagen polypeptide has an important role in skeletal morphogenesis that goes beyond the cartilage extracellular matrix contribution to structural integrity. Allelism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutations has been demonstrated.
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Article Abstract:
CAS (ital), the human homologue of the yeast chromosome-segregation gene, CSE1 (ital), has been studied in proliferation, apoptosis, and cancer. Proliferation is progression though the cell cycle and opposes apoptosis in cellular mechanisms, but the pathways are linked and proteins have roles in both mechanisms and may cause cancer. CAS has a connection with cancer and may have a role with other diseases.
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