Isolation of a New Homeobox Gene Belonging to the Pitx/Rieg Family: Expression During Lens Development and Mapping to the Aphakia Region on Mouse Chromosome 19
Autor: | Jeffrey C. Murray, Elena V. Semina, Rebecca S. Reiter |
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Rok vydání: | 1997 |
Předmět: |
Candidate gene
DNA Complementary Positional cloning Molecular Sequence Data Biology Gene product Embryonic and Fetal Development Mice Gene mapping Lens Crystalline Genetics Animals Paired Box Transcription Factors Gene family Amino Acid Sequence Molecular Biology Genetics (clinical) Aphakia Homeodomain Proteins Regulation of gene expression Base Sequence PITX2 Genes Homeobox Chromosome Mapping Gene Expression Regulation Developmental Nuclear Proteins Exons General Medicine Introns eye diseases Mice Inbred C57BL Multigene Family Mutation Homeobox Transcription Factors |
Zdroj: | Human Molecular Genetics. 6:2109-2116 |
ISSN: | 1460-2083 0964-6906 |
Popis: | We recently reported the positional cloning of a homeobox gene involved in the pathogenesis of Rieger syndrome, RIEG1 , and its mouse homolog, Rieg1 . Rieg1 (also independently described as Pitx2) is highly homologous to the Ptx1/Potx gene product, suggesting that there may be additional members of this novel Pitx family. The Pitx genes play an important role in eye, tooth, pituitary and umbilical region development as evidenced by Rieger syndrome and iris hypoplasia phenotypes, resulting from mutations in the RIEG1 gene and by expression studies. In order to characterize further the Pitx gene family we searched mouse cDNA libraries to identify additional members. A new gene was isolated which encodes a homeoprotein with strong homology to the other Pitx proteins and 97-100% identity in the homeodomain itself, suggesting that this is a third member of the family, Pitx3 . In whole mount in situ hybridization on mouse embryos ranging from 8.5 to 11.5 days post-coitum (d.p.c.), Pitx3 mRNA was seen only in the developing lens starting at day 11. Hybridization on cross-sections revealed strong signals in the lens vesicle in 11 d.p.c. embryos and throughout the lens, particularly in the anterior epithelium and equator region in 15 d.p.c. embryos. Pitx3 was mapped close to aphakia on mouse chromosome 19. The aphakia homozygous mouse is characterized by small eyes lacking a lens, which fail to develop beyond 11 d.p.c. These data make Pitx3 a strong candidate gene for the aphakia phenotype in the mouse and suggest a role for the human homolog in congenital lens malformations. |
Databáze: | OpenAIRE |
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