Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development

Belen Hurle, Keara Michelle Lane, Jane Kenney, Lisa M. Tarantino, Maja Bucan, Bernard H. Brownstein, David M. Ornitz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

The tilted (tlt) mouse carries a recessive mutation causing vestibular dysfunction. The defect in tlt homozygous mice is limited to the utricle and saccule of the inner ear, which completely lack otoconia. Genetic mapping of tlt placed it in a region orthologous with human 4p16.3-p15 that contains two loci, DFNA6 and DFNA14, responsible for autosomal dominant, nonsyndromic hereditary hearing impairment. To identify a possible relationship between tlt in mice and DFNA6 and DFNA14 in humans, we have refined the mouse genetic map, assembled a BAC contig spanning the tlt locus, and developed a comprehensive comparative map between mouse and human. We have determined the position of tlt relative to 17 mouse chromosome 5 genes with orthologous loci in the human 4p16.3-p15 region. This analysis identified an inversion between the mouse and human genomes that places tlt and DFNA6/14 in close proximity.

Original languageEnglish (US)
Pages (from-to)189-199
Number of pages11
JournalGenomics
Volume77
Issue number3
DOIs
StatePublished - Aug 15 2001

Keywords

  • 4p16
  • Comparative mapping
  • Deafness
  • Inner ear
  • Mutant
  • Otoconia
  • Physical map
  • Positional cloning
  • Tilted
  • Vestibular dysfunction

ASJC Scopus subject areas

  • Genetics

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