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Article
Nature Genetics  13, 275 - 283 (1996)
doi:10.1038/ng0796-275

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

Qi Zhao1, Richard R. Behringer1 & Benoit de Crombrugghe1, 2

  1Department of Molecular Genetics, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, Texas 77030, USA

  2Correspondence should be addressed to B.DeC.

The paired-class homeobox−containing gene, Cartl, 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.

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ISSN: 1061-4036
EISSN: 1546-1718
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