Nature Genetics
28, 251 - 255 (2001)
doi:10.1038/90081
Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tailZoha Kibar1, Kyle J. Vogan2, Normand Groulx1, Monica J. Justice3, D. Alan Underhill4
& Philippe Gros11
Department of Biochemistry, McGill University, Montreal, Canada. 2
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. 3
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. 4
Department of Medical Genetics, University of Alberta, Edmonton, Canada.
Correspondence should be addressed to Philippe Gros gros@med.mcgill.caNeural tube defects (NTDs) such as spina bifida and anencephaly are common congenital malformations in humans (1/1,000 births) that result from failure of the neural tube to close during embryogenesis1,
2. The etiology of NTDs is complex, with both genetic and environmental contributions; the genetic component has been extensively studied with mouse models3. Loop-tail (Lp) is a semidominant mutation on mouse chromosome 1 (ref. 4). In the two known Lp alleles (Lp, Lpm1Jus), heterozygous mice exhibit a characteristic looped tail, and homozygous embryos show a completely open neural tube in the hindbrain and spinal region, a condition similar to the severe craniorachischisis defect in humans4,
5,
6. Morphological and neural patterning studies indicate a role for the Lp gene product in controlling early morphogenesis and patterning of both axial midline structures and the developing neural plate7. The 0.6-cM/0.7-megabase (Mb) Lp interval is delineated proximally by D1Mit113/Apoa2/Fcer1g and distally by Fcer1a/D1Mit149/Spna1 and contains a minimum of 17 transcription units8,
9,
10,
11. One of these genes, Ltap, encodes a homolog of Drosophila Strabismus/Van Gogh (Stbm/Vang), a component of the frizzled/dishevelled tissue polarity pathway12,
13,
14. Ltap is expressed broadly in the neuroectoderm throughout early neurogenesis and is altered in two independent Lp alleles, identifying this gene as a strong candidate for Lp.
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