Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.
Edward H. Birkenmeier,M T Davisson,Wesley G. Beamer,R E Ganschow,Carole Vogler,Babette Gwynn,K A Lyford,L M Maltais,C J Wawrzyniak +8 more
TLDR
Surprisingly, a sensitive S1 nuclease assay indicated that the relative level of kidney gusmps mRNA responded normally to androgen induction by increasing approximately 11-fold, and may offer valuable information on the pathogenesis of human MPS VII.Abstract:
We have characterized a new mutant mouse that has virtually no beta-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; beta-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the beta-glucuronidase gene complex, [Gus], on the distal end of chromosome 5. Although there is a greater than 200-fold reduction in the beta-glucuronidase mRNA concentration in mutant tissues, Southern blot analysis failed to detect any abnormalities in the structural gene, Gus-sb, or in 17 kb of 5' flanking and 4 kb of 3' flanking sequences. Surprisingly, a sensitive S1 nuclease assay indicated that the relative level of kidney gusmps mRNA responded normally to androgen induction by increasing approximately 11-fold. Analysis of this mutant mouse may offer valuable information on the pathogenesis of human MPS VII and provide a useful system in which to study bone marrow transplantation and gene transfer methods of therapy.read more
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Tissue-specific expression, developmental regulation, and genetic mapping of the gene encoding CCAAT/enhancer binding protein.
Edward H. Birkenmeier,Babette Gwynn,Sherry Howard,Joseph Jerry,Jeffrey I. Gordon,William H. Landschulz,Steven L. McKnight +6 more
TL;DR: Observations raise the possibility that the synthesis of C/EBP may be responsive to humoral factors and that modulation in C/ EBP expression might mediate coordinated changes in gene expression that facilitate adaptive challenges met during development or during the fluctuating physiological states of adult life.
Journal ArticleDOI
A genetic linkage map of the mouse: current applications and future prospects
Neal G. Copeland,Nancy A. Jenkins,Debra J. Gilbert,Janan T. Eppig,Lois J. Maltais,Joyce C. Miller,William F. Dietrich,Alix Weaver,Stephen E Lincoln,Robert G. Steen,Lincoln Stein,Joseph H. Nadeau,Eric S. Lander +12 more
TL;DR: This work presents a new generation of high-resolution genetic linkage maps for the mouse that offer exciting prospects for understanding mammalian genome evolution through comparative mapping, for developing mouse models of human disease, and for identifying the function of all genes in the organism.
Journal ArticleDOI
Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain.
TL;DR: By transplanting β-glucuronidase-expressing neural progenitors into the cerebral ventricles of newborn mice, donor cells engrafted throughout the neuraxis, resulting in widespread correction of lysosomal storage in neurons and glia in affected mice.
Journal ArticleDOI
Transduction characteristics of adeno-associated virus vectors expressing cap serotypes 7, 8, 9, and Rh10 in the mouse brain.
Cassia N. Cearley,John H. Wolfe +1 more
TL;DR: The AAV 9 vector was found to undergo vector genome transport to distal neuronal cell bodies via known axonal pathways, resulting in correction of lysosomal storage lesions in regions of a diseased brain that would not be corrected if the genome were not transported.
Journal ArticleDOI
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.
Susan M. Medghalchi,Pamela A. Frischmeyer,Joshua T. Mendell,Amy G. Kelly,Ann M. Lawler,Harry C. Dietz +5 more
TL;DR: The consequences of loss of NMD function in vertebrates are explored through targeted disruption of the Rent1 gene in murine embryonic stem cells which encodes a mammalian ortholog of Upf1p, demonstrating that Rent1 is essential for embryonic viability and support a critical role for the pathway in the regulated expression of selected physiologic transcripts.
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
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