Journal article
Pitx2 Regulates Procollagen Lysyl Hydroxylase (Plod) Gene Expression: Implications for the Pathology of Rieger Syndrome
The Journal of cell biology, Vol.152(3), pp.545-552
02/05/2001
DOI: 10.1083/jcb.152.3.545
PMID: 11157981
Abstract
The 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 we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We 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. The 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.
Details
- Title: Subtitle
- Pitx2 Regulates Procollagen Lysyl Hydroxylase (Plod) Gene Expression: Implications for the Pathology of Rieger Syndrome
- Creators
- Tord A HjaltBrad A AmendtJeffrey C Murray
- Resource Type
- Journal article
- Publication Details
- The Journal of cell biology, Vol.152(3), pp.545-552
- DOI
- 10.1083/jcb.152.3.545
- PMID
- 11157981
- NLM abbreviation
- J Cell Biol
- ISSN
- 0021-9525
- eISSN
- 1540-8140
- Publisher
- The Rockefeller University Press
- Language
- English
- Date published
- 02/05/2001
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025689402771
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