Document Detail

Transient overexpression of the Microphthalmia gene in the eyes of Microphthalmia vitiligo mutant mice.
MedLine Citation:
PMID:  9825864     Owner:  NLM     Status:  MEDLINE    
The murine microphthalmia gene (Mitf) encodes a basic helix-loop-helix transcription factor thought to regulate transcription of genes encoding proteins of the pigmentation pathway. It may promote pigment cell survival and development. The protein encoded by Mitf appears to be critical for eye development, because mutant alleles demonstrate varying degrees of ocular malformation. One of the mildest of these is the Mitf vitiligo (Mitfvit) mutant allele, which exhibits uneven pigmentation of the retinal pigment epithelium (RPE) and slow, progressive photoreceptor cell loss, eventually leading to blindness. In the present study, the expression of Mitf during early eye development in the Mitfvit mutant was compared with that of pigmented wild type mice. Mitf expression quantified by reverse transcriptase-polymerase chain reaction amplification demonstrated a transient elevation of Mitf between embryonic day 10.5 (E10.5) and E13.5 in the Mitfvit mutant compared with wild type mice. In situ hybridization analysis confirmed this elevation and localized Mitf expression to the neuroepithelium during onset of optic vesicle formation (E9.0-E9.5) and, subsequently, to the RPE during optic cup formation (E10-E11.5) in both mutant and wild type eyes. This is the first report of transient elevation of Mitf in any of the Mitf mutants, and the elevation may be relevant to altered levels of pigmentation proteins as well as to the RPE abnormalities observed in the Mitfvit mutant.
N Bora; S J Conway; H Liang; S B Smith
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Developmental dynamics : an official publication of the American Association of Anatomists     Volume:  213     ISSN:  1058-8388     ISO Abbreviation:  Dev. Dyn.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-01-07     Completed Date:  1999-01-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9201927     Medline TA:  Dev Dyn     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  283-92     Citation Subset:  IM    
Department of Cellular Biology and Anatomy, Medical College of Georgia, Augusta 30912-2000, USA.
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MeSH Terms
DNA-Binding Proteins / analysis,  genetics*
Eye Abnormalities / genetics*
Gene Expression Regulation, Developmental*
Helix-Loop-Helix Motifs / genetics
In Situ Hybridization
Mice, Inbred C57BL
Mice, Mutant Strains
Microphthalmia-Associated Transcription Factor
Pigment Epithelium of Eye / abnormalities*,  chemistry,  embryology*
Pigments, Biological / genetics
Reverse Transcriptase Polymerase Chain Reaction
Transcription Factors*
Grant Support
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Microphthalmia-Associated Transcription Factor; 0/Mitf protein, mouse; 0/Pigments, Biological; 0/Transcription Factors

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