Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail

Nat Genet. 2001 Jul;28(3):251-5. doi: 10.1038/90081.

Abstract

Neural 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 embryogenesis. The etiology of NTDs is complex, with both genetic and environmental contributions; the genetic component has been extensively studied with mouse models. 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 humans. 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 plate. 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 units. One of these genes, Ltap, encodes a homolog of Drosophila Strabismus/Van Gogh (Stbm/Vang), a component of the frizzled/dishevelled tissue polarity pathway. 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Drosophila / genetics
  • Drosophila Proteins*
  • In Situ Hybridization
  • Membrane Proteins / genetics*
  • Mice
  • Mice, Inbred Strains / genetics
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Neural Tube Defects / genetics*
  • Sequence Homology, Amino Acid
  • Tissue Distribution

Substances

  • DNA, Complementary
  • Drosophila Proteins
  • Ltap protein, mouse
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Vang protein, Drosophila

Associated data

  • GENBANK/AF365875