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Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse

J Cable1, D Huszar, R Jaenisch

  • 1MRC Institute of Hearing Research, University Park, Nottingham, U.K.

Pigment Cell Research
|February 1, 1994
PubMed

Insights

The W locus mutation affects neural crest cell survival, impacting inner ear melanocytes and hearing. A strong correlation exists between strial melanocytes and endocochlear potential (EP), crucial for hearing function.

Area of Science:

  • Developmental Biology
  • Neuroscience
  • Genetics

Background:

  • The W locus, encoding the c-kit tyrosine kinase receptor, is vital for melanoblast survival originating from neural crest cells.
  • Viable Dominant Spotting (Wv/Wv) mutants exhibit cochlear defects, including absent melanocytes in the stria vascularis (SV), leading to a near-zero endocochlear potential (EP) and hearing loss.

Purpose of the Study:

  • To investigate the relationship between inner ear pigmentation and cochlear potentials in different W allelic mutants (Wx, Wsh, W41).
  • To establish a correlation between the presence of strial melanocytes and the generation of an endocochlear potential (EP).

Main Methods:

  • Comparison of inner ear pigmentation and cochlear potentials across various W allelic mutants (Wx, Wsh, W41).
  • Assessment of strial melanocyte presence and distribution within the cochlea.
  • Measurement of endocochlear potential (EP) and compound action potential (CAP) responses.
  • Analysis of melanocyte distribution in vestibular regions and the pinna.
  • Evaluation of the effects of neural crest cell transplantation on pigmentation and EP.

Main Results:

  • An unequivocal correlation was observed between the presence of strial melanocytes and a measurable EP across W alleles.
  • Partial rescue of the mutation showed melanocytes confined to specific cochlear turns, with pigmentation extent unrelated to EP magnitude.
  • Ears with a near-zero EP lacked strial melanocytes and exhibited absent or severely impaired CAP responses, indicating profound hearing deficits.
  • Melanocyte distribution in vestibular regions and the pinna showed a broad but not absolute correlation with strial pigmentation.
  • Neural crest cell injection partially restored skin and coat pigmentation and slightly increased pigmented strias.

Conclusions:

  • The presence of melanocytes in the stria vascularis is essential for establishing a functional endocochlear potential (EP) and normal hearing.
  • W locus mutations severely disrupt melanocyte development, impacting both cochlear and vestibular systems, as well as external ear pigmentation.
  • The study highlights the critical role of c-kit signaling in the development of sensory structures within the inner ear.

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