Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

Hodgkinson, Colin A.; Moore, Karen J.; Nakayama, Atsuo; Steingrı́msson, Eirı́kur; Copeland, Neal G.; Jenkins, Nancy A.; Arnheiter, Heinz

doi:10.1016/0092-8674(93)90429-t

Cited by 1,015 publications

(864 citation statements)

References 47 publications

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“…Among the transcription factors, mi locus-encoded transcription factor (MITF) and GATA2 are known to be particularly important in mouse MC gene expressions. While MITF is important in the early stage of MC development [14], GATA2 is involved in the transcriptions of various genes in mature MCs [15]. Because we made the SAGE library from mature MCs, it is in good agreement with these previous reports that the tag corresponding to GATA2 was detected much more frequently than MITF (GATA2, 28 and MITF, two).…”

Section: Identi¢cation Of Novel Mc-speci¢c Genessupporting

confidence: 88%

Identification of novel mast cell genes by serial analysis of gene expression in cord blood‐derived mast cells

Kuramasu

Kubota

Matsumoto³

et al. 2001

FEBS Letters

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The gene expression profile of human cord bloodderived mast cells (MCs) was investigated using serial analysis of gene expression (SAGE). A total of 22 914 tags, representing 9181 unique transcripts, were sequenced. By selecting tags that were detected more frequently in MCs than in other tissues, genes characteristic of MCs were enriched. Reverse transcription-PCR and the high-density oligonucleotide array hybridization confirmed the validity of our SAGE result. About 70% of the selected genes were previously uncharacterized. Northern blot analysis showed the MC-specific expression of selected genes. This inventory will be useful to identify novel genes with important functions in MCs. ß

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Section: Identi¢cation Of Novel Mc-speci¢c Genessupporting

confidence: 88%

Identification of novel mast cell genes by serial analysis of gene expression in cord blood‐derived mast cells

Kuramasu

Kubota

Matsumoto³

et al. 2001

FEBS Letters

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“…The second mouse model has a mutation of the Mitf gene expressed in melanocytes in the stria vascularis. Mitf is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte and osteoclast development [19,20]. Loss of melanocytes due to Mitf mutation causes abnormality of the stria morphology and function, leading to hearing loss in both humans and mice [16,21,22].…”

Section: Introductionmentioning

confidence: 99%

Organ of Corti and Stria Vascularis: Is there an Interdependence for Survival?

Liu

Chen

et al. 2016

PLoS ONE

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Cochlear hair cells and the stria vascularis are critical for normal hearing. Hair cells transduce mechanical stimuli into electrical signals, whereas the stria is responsible for generating the endocochlear potential (EP), which is the driving force for hair cell mechanotransduction. We questioned whether hair cells and the stria interdepend for survival by using two mouse models. Atoh1 conditional knockout mice, which lose all hair cells within four weeks after birth, were used to determine whether the absence of hair cells would affect function and survival of stria. We showed that stria morphology and EP remained normal for long time despite a complete loss of all hair cells. We then used a mouse model that has an abnormal stria morphology and function due to mutation of the Mitf gene to determine whether hair cells are able to survive and transduce sound signals without a normal electrochemical environment in the endolymph. A strial defect, reflected by missing intermediate cells in the stria and by reduction of EP, led to systematic outer hair cell death from the base to the apex after postnatal day 18. However, an 18-mV EP was sufficient for outer hair cell survival. Surprisingly, inner hair cell survival was less vulnerable to reduction of the EP. Our studies show that normal function of the stria is essential for adult outer hair cell survival, while the survival and normal function of the stria vascularis do not depend on functional hair cells.

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“…Microphthalmia gene controls melanocyte development and survival (Hodgkinson et al, 1993). It also plays a crucial role in the control of the tissue-speci®c expression of the melanogenic genes (Ganss et al, 1994;Lowings et al, 1992;Yavuzer et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

In B16 melanoma cells, the inhibition of melanogenesis by TPA results from PKC activation and diminution of microphthalmia binding to the M-box of the tyrosinase promoter

et al. 1998

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In B16 melanoma cells, cAMP-induced melanogenesis is inhibited by the tumor promoting phorbol ester, TPA. However, the role of PKC activation or depletion in the inhibition of melanogenesis by TPA remains controversial. In this report, using speci®c PKC inhibitors, we demonstrated that PKC inhibition does not impair cAMPinduced melanin synthesis and tyrosinase expression. Further, the inhibition of melanogenesis by TPA results from a decrease of the tyrosinase promoter transcriptional activity and this e ect is mimicked by over-expression of a constitutively active form of PKC a. These ®ndings clearly demonstrate that PKC activation accounts for the inhibition of melanin synthesis by TPA. Additional experiments were undertaken to elucidate the mechanism by which TPA inhibits the tyrosinase gene transcription. Deletions and mutation in the tyrosinase promoter showed that TPA acts on a M-box which is involved in tissuespeci®c expression and regulation by cAMP of the tyrosinase gene. We showed that TPA decreases the binding of microphthalmia, a basic helix ± loop ± helix transcription factor, to the M-box. Since microphthalmia, strongly stimulates the transcriptional activity of the promoter we propose that TPA, through PKC activation, decreases microphthalmia binding to the M-box of the tyrosinase promoter, thereby leading to a reduced tyrosinase expression and melanogenesis inhibition.

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Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

Cited by 1,015 publications

References 47 publications

Identification of novel mast cell genes by serial analysis of gene expression in cord blood‐derived mast cells

Identification of novel mast cell genes by serial analysis of gene expression in cord blood‐derived mast cells

Organ of Corti and Stria Vascularis: Is there an Interdependence for Survival?

In B16 melanoma cells, the inhibition of melanogenesis by TPA results from PKC activation and diminution of microphthalmia binding to the M-box of the tyrosinase promoter

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