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PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.

Hjalt TA, Amendt BA, Murray JC - J. Cell Biol. (2001)

Bottom Line: Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements.The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments.Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]).

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.

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.

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Coexpression of Pitx2 and Plod-1/Plod-2. (A) RT-PCR with Pitx2, Plod-1, and Plod-2 primers on mRNA prepared from E14.5 mouse heads, E13.5 mouse eyes, and adult human skeletal muscle. (B) RT-PCR with various embryonic and adult mouse tissues.
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Figure 6: Coexpression of Pitx2 and Plod-1/Plod-2. (A) RT-PCR with Pitx2, Plod-1, and Plod-2 primers on mRNA prepared from E14.5 mouse heads, E13.5 mouse eyes, and adult human skeletal muscle. (B) RT-PCR with various embryonic and adult mouse tissues.

Mentions: We wanted to study which tissues Pitx2 was coexpressed in with Plod-1 and Plod-2. We assayed this by RT-PCR of mRNA isolated from various mouse tissue (Fig. 6).


PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.

Hjalt TA, Amendt BA, Murray JC - J. Cell Biol. (2001)

Coexpression of Pitx2 and Plod-1/Plod-2. (A) RT-PCR with Pitx2, Plod-1, and Plod-2 primers on mRNA prepared from E14.5 mouse heads, E13.5 mouse eyes, and adult human skeletal muscle. (B) RT-PCR with various embryonic and adult mouse tissues.
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Related In: Results  -  Collection

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Figure 6: Coexpression of Pitx2 and Plod-1/Plod-2. (A) RT-PCR with Pitx2, Plod-1, and Plod-2 primers on mRNA prepared from E14.5 mouse heads, E13.5 mouse eyes, and adult human skeletal muscle. (B) RT-PCR with various embryonic and adult mouse tissues.
Mentions: We wanted to study which tissues Pitx2 was coexpressed in with Plod-1 and Plod-2. We assayed this by RT-PCR of mRNA isolated from various mouse tissue (Fig. 6).

Bottom Line: Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements.The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments.Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]).

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.

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.

Show MeSH
Related in: MedlinePlus