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Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene.

Nature genetics | Jul 12, 1996

http://www.ncbi.nlm.nih.gov/pubmed/8673125

The paired-class homeobox-containing gene, Cart1, is expressed in forebrain mesenchyme, branchial arches, limb buds and cartilages during embryogenesis. Here, we show that Cart1-homozygous mutant mice are born alive with acrania and meroanencephaly but die soon after birth-a phenotype that strikingly resembles a corresponding human syndrome caused by a neural tube closure defect. Developmental studies suggest that Cart1 is required for forebrain mesenchyme survival and that its absence disrupts cranial neural tube morphogenesis by blocking the initiation of closure in the midbrain region that ultimately leads to the generation of lethal craniofacial defects. Prenatal treatment of Cart1 homozygous mutants with folic acid suppresses the development of the acrania/meroanencephaly phenotype.

Pubmed ID: 8673125 RIS Download

Mesh terms: Anencephaly | Animals | Apoptosis | DNA-Binding Proteins | Female | Folic Acid | Homeodomain Proteins | Humans | Maternal-Fetal Exchange | Mesoderm | Mice | Mice, Inbred BALB C | Mice, Transgenic | Mutation | Neural Tube Defects | Pregnancy | Prosencephalon | Skull

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Associated grants

  • Agency: NIAMS NIH HHS, Id: AR40335
  • Agency: NIAMS NIH HHS, Id: AR42909
  • Agency: NICHD NIH HHS, Id: HD31155

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