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Abstract #19020 Published in IGR 3-1
Procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome
Hjalt TA; Amendt BA; Murray JCThe Journal of Cell Biology 2001; 152: 545-552
Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study, the authors identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITZ2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (PLOD)-2 gene was enriched by chromatin precipitation using a PITX2/PITX 2-specific antibody. PLOD-2 , as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. The authors show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI (EDVI)). Several of the same organ systems are involved in rieger syndrome and EDVI.
Classification:
6.12 Ultrasonography and ultrasound biomicroscopy (Part of: 6 Clinical examination methods)