A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice

Alexis Tapanes-Castillo, Eli J. Weaver, Robin P. Smith, Yoshimasa Kamei, Tamara Caspary, Kara L. Hamilton-Nelson, Susan H. Slifer, Eden R. Martin, John L. Bixby, Vance P. Lemmon

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Humans with L1 cell adhesion molecule (L1CAM) mutations exhibit X-linked hydrocephalus, as well as other severe neurological disorders. L1-6D mutant mice, which are homozygous for a deletion that removes the sixth immunoglobulin-like domain of L1cam, seldom display hydrocephalus on the 129/Sv background. However, the same L1-6D mutation produces severe hydrocephalus on the C57BL/6J background. To begin to understand how L1cam deficiencies result in hydrocephalus and to identify modifier loci that contribute to X-linked hydrocephalus by genetically interacting with L1cam, we conducted a genome-wide scan on F2 L1-6D mice, bred from L1-6D 129S2/SvPasCrlf and C57BL/6J mice. Linkage studies, utilizing chi-square tests and quantitative trait loci mapping techniques, were performed. Candidate modifier loci were further investigated in an extension study. Linkage was confirmed for a locus on chromosome 5, which we named L1cam hydrocephalus modifier 1 (L1hydro1), p = 4.04 × 10 11.

Original languageEnglish (US)
Pages (from-to)53-71
Number of pages19
JournalNeurogenetics
Volume11
Issue number1
DOIs
StatePublished - Feb 2010

Keywords

  • Hydrocephalus
  • L1cam
  • Linkage analysis
  • Modifier
  • QTL

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

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  • Cite this

    Tapanes-Castillo, A., Weaver, E. J., Smith, R. P., Kamei, Y., Caspary, T., Hamilton-Nelson, K. L., Slifer, S. H., Martin, E. R., Bixby, J. L., & Lemmon, V. P. (2010). A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. Neurogenetics, 11(1), 53-71. https://doi.org/10.1007/s10048-009-0203-3