Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.bbrc.2012.01.032
Title: Transgene insertion in intronic sequences of Mdga2 gene shows methylation in an imprinted manner in an Acrodysplasia (Adp) mouse line
Authors: Suzuki, M.
Solter, D. 
Watanabe, T.
Keywords: Genomic imprinting
Insertional mutation
Limb development
Mdga2
Methylation
Issue Date: 17-Feb-2012
Citation: Suzuki, M., Solter, D., Watanabe, T. (2012-02-17). Transgene insertion in intronic sequences of Mdga2 gene shows methylation in an imprinted manner in an Acrodysplasia (Adp) mouse line. Biochemical and Biophysical Research Communications 418 (3) : 439-444. ScholarBank@NUS Repository. https://doi.org/10.1016/j.bbrc.2012.01.032
Abstract: The Acrodysplasia (Adp) mutation arises from the insertion of a transgene containing a mouse metallothionein-promoted bovine papilloma virus and human growth hormone-releasing factor gene. Although the transgene is not expressed, mice that are hemizygous for the transgene show skull and paw deformities when the progeny receive the transgene paternally. To elucidate the molecular mechanisms underlying the mutant phenotype and the modified transmission pattern of the Adp phenotype, a junctional fragment around the transgene integration site was cloned. The transgene was inserted into the intronic sequences between exon 3 and exon 4 of the Mdga2 gene and the degree of methylation of the transgene and the severity of the phenotype were reciprocally related in that the transgene was highly or under methylated in normal and deformed mice, respectively. Thus, methylation of the transgene appears to regulate phenotypic expression and imprinting of Adp. © 2012 Elsevier Inc.
Source Title: Biochemical and Biophysical Research Communications
URI: http://scholarbank.nus.edu.sg/handle/10635/126566
ISSN: 0006291X
DOI: 10.1016/j.bbrc.2012.01.032
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