Expression and regulation of Escherichia coli lacZ gene fusions in mammalian cells.Gene fusions between the Escherichia coli lacZ gene and DNA segments containing the simian virus 40 early promoter or the mouse mammary tumor virus (MMTV) promoter direct the synthesis of functional beta-galactosidase in Cos 7 monkey cells and mouse Ltk-cells. Enzymatic activity was measured either 72 h after transfection or in stable transformants. The sensitive beta-galactosidase assay was used to measure gene expression and to optimize the efficiency of DNA-mediated transfection. Glucocorticoids stimulated the production of beta-galactosidase when lacZ was fused to the hormonally regulated MMTV promoter.
Functional analysis of the steroid hormone control region of mouse mammary tumor virusFrank Lee, C V Hall, G M Ringold et al.|Nucleic Acids Research|1984 Gene fusions between the mouse mammary tumor virus long terminal repeat and the E. coli lacZ gene have been shown to exhibit hormone dependent expression of beta-galactosidase activity. These constructions were used in transient expression experiments to assess the effects of specific modifications introduced into the region upstream of the transcription initiation site. 5' deletions demonstrate that sequences sufficient for wild-type promoter function are contained downstream of residue -64 relative to the initiation site. Other deletions define a region of approximately 80 base pairs between -220 and -140 which contains sequences essential for hormonal control. Between this control region and the promoter lie sequences dispensable for both functions.
Report of second case and clinical and molecular characterization of Eiken syndromeWe report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi-allelic variants in PTH1R. Only one affected family has been known to-date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi-allelic hypomorphic variants in PTH1R are probably to cause this condition.
LACC1 gene mutation in three sisters with polyarthritis without systemic featuresAnkita Singh, Deepti Suri, Pandiarajan Vignesh et al.|Annals of the Rheumatic Diseases|2019 The third family with Eiken syndromesponsorship: The authors thank the family for their participation in the study. We acknowledge the support of Department of Science and Technology, Government of India for funding this study under the project "Application of autozygosity mapping and exome sequencing to identify genetic basis of disorders of skeletal development" (SB/SO/HS/005/2014). (Department of Science and Technology, Government of India|SB/SO/HS/005/2014)