Impaired development of melanoblasts in the black-eyed white Mitf mi-bw mouse, a model for auditory-pigmentary disorders

Hiroki Hozumi, Kazuhisa Takeda, Yasuko Yoshida-Amano, Yuji Takemoto, Ryota Kusumi, Urara Fukuzaki-Dohi, Atsushi Higashitani, Hiroaki Yamamoto, Shigeki Shibahara

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

Microphthalmia-associated transcription factor (Mitf) is a regulator for differentiation of melanoblasts that are derived from the neural crest. The mouse homozygous for the black-eyed white (Mitf mi-bw) allele is characterized by the white coat color and deafness, with black eye that is associated with the lack of melanocytes in skin and inner ear. The Mitf mi-bw mutation is an insertion of the LINE1 retrotransposable element into intron 3 of the Mitf gene that causes the selective deficiency of the melanocyte-specific Mitf isoform, Mitf-M. Here, we show the expression of Mitf-M mRNA in the trunk region of the homozygous Mitf mi-bw (bw) mouse at embryonic days (E) 11.5 and E12.5, but Mitf-M mRNA is undetectable at E13.5. In addition, using bw mouse that carries the lacZ transgene under the control of a melanoblast-specific promoter, we show that the number of migrating melanoblasts in bw embryos was less than 10% of that in control embryos at E11.5 and E12.5, and melanoblasts disappear by E13.5. The loss of melanoblasts in bw embryos was probably caused by apoptosis. Finally, forced expression of Mitf-M in the cultured neural tube of bw embryos ensured the differentiation of melanoblasts. Therefore, the correct dose of Mitf-M is required for the normal development of melanoblasts.

Original languageEnglish
Pages (from-to)494-508
Number of pages15
JournalGenes to Cells
Volume17
Issue number6
DOIs
Publication statusPublished - 2012 Jun

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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