A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice
| Autor: | Kara L. Hamilton-Nelson, Tamara Caspary, Susan Slifer, Eli J. Weaver, Vance Lemmon, Yoshimasa Kamei, Eden R. Martin, John L. Bixby, Robin P. Smith, Alexis Tapanes-Castillo |
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| Rok vydání: | 2009 |
| Předmět: |
Male
L1 Genetic Linkage Quantitative Trait Loci Mutant Neural Cell Adhesion Molecule L1 Locus (genetics) Quantitative trait locus Biology Article Mice Cellular and Molecular Neuroscience Gene mapping Genetic linkage Genetics medicine Animals Humans Genetics (clinical) X chromosome Mice Knockout Brain Chromosome Mapping medicine.disease Hydrocephalus Mice Inbred C57BL Disease Models Animal Mutation Female |
| Zdroj: | neurogenetics. 11:53-71 |
| ISSN: | 1364-6753 1364-6745 |
| DOI: | 10.1007/s10048-009-0203-3 |
| Popis: | 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), \( p = 4.04 \times {10^{ - 11}} \). |
| Databáze: | OpenAIRE |
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