Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

Mutations in fibroblast growth factor receptor 3 (FGFR3) cause the most common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms, thanatophoric dysplasia (TD) I and II. The causative mutations induce graded levels of constitutive activation of the receptor that correspond to the severity of the disorder, resulting in premature entry into hypertrophic differentiation and reduced proliferation of chondrocytes in developing cartilage. Although FGFR3 promotes growth in most tissues, it is a negative regulator of endochondral bone growth.

Acidic beta-galactosidase in the developing mouse submandibular gland.

Acidic beta-galactosidase (beta-gal) is expressed at high concentrations in the salivary glands, where its function is unknown but probably related to lysosomal catabolism of glycolipids or glycoproteins such as mucin. Here, the developmental pattern of the enzyme activity in the submandibular gland of B10A/SGSNJ mice was investigated in relation to the expression of mucin. Biochemical studies indicated that the activity of acidic beta-gal increases significantly from birth to 3 weeks of age (P<0.