Transgenic analysis of the physiological functions of Mahogunin ring finger‐1 isoforms |
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Authors: | Jian Jiao Hae Young Kim Roy R Liu Carolyn A Hogan Kaihua Sun Lori Mon Tam Teresa M Gunn |
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Institution: | Department of Biomedical Sciences, Cornell University, Ithaca, New York |
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Abstract: | Mahogunin Ring Finger‐1 (Mgrn1) null mutant mice have a pleiotropic phenotype that includes the absence of yellow hair pigment, abnormal head shape, reduced viability, and adult‐onset spongiform neurodegeneration. Mgrn1 encodes a highly conserved E3 ubiquitin ligase with four different isoforms which are differentially expressed and predicted to localize to different subcellular compartments. To test whether loss of specific isoforms causes different aspects of the mutant phenotype, we generated transgenes for each isoform and bred them onto the null mutant background. Mice expressing only isoform I or III appeared completely normal. Isoform II rescued or partially rescued the mutant phenotypes, whereas isoform IV had little or no effect. Our data show that different Mgrn1 isoforms are not functionally equivalent in vivo and that the presence of only isoform I or III is sufficient for normal development, pigmentation, and neuronal integrity. genesis 47:524–534, 2009. © 2009 Wiley‐Liss, Inc. |
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Keywords: | Mahogunin ring finger‐1 isoforms spongiform neurodegeneration pigmentation craniofacial patterning transgenesis |
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