Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate

Genomics
P LuziD A Wenger

Abstract

Krabbe disease or globoid cell leukodystrophy (GLD) is a severe lysosomal disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Since the cloning of the human GALC cDNA and gene many disease-causing and polymorphic changes have been identified. This autosomal recessive disease has been reported to occur in several animal species, and recently the murine and canine GALC genes have been cloned. We now describe the cloning of the GALC cDNA and gene from the rhesus monkey and the identification of the mutation causing GLD in this species. The nucleotide sequence of the coding region and the gene organization were nearly identical to human. The deduced amino acid sequence of the monkey GALC was compared to the human, dog, and mouse, and it was found to be 97, 87, and 83% identical, respectively. The mutation causing GLD in the rhesus monkey is a deletion of AC corresponding to cDNA positions 387 and 388 in exon 4. This results in a frame shift and a stop codon after 46 nucleotides. A rapid method to detect this mutation was developed, and when 45 monkeys from this colony wer...Continue Reading

References

Feb 1, 1989·The Journal of Cell Biology·M Kozak
Jun 1, 1988·The Journal of Clinical Investigation·P M HoogerbruggeD W van Bekkum
Sep 29, 1993·Biochimica Et Biophysica Acta·Y Q Chen, D A Wenger
Feb 2, 1997·Bone Marrow Transplantation·B J BambachR J Jones

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Citations

Sep 3, 2005·Stem Cells and Development·Reza IzadpanahBruce A Bunnell
Mar 19, 2009·ILAR Journal·Christine Gagliardi, Bruce A Bunnell
Mar 11, 2005·Expert Opinion on Biological Therapy·Bruce A BunnellCarl F Perez
Jul 5, 2005·Expert Opinion on Investigational Drugs·T M Daly, M S Sands
Feb 26, 2008·Biochimica Et Biophysica Acta·Frédérique SabourdyThierry Levade
Jun 7, 2005·Muscle & Nerve·Maria B WeimerJohn D England
Mar 30, 2007·Acta Paediatrica. Supplement·Mark E Haskins
Feb 24, 2006·The Veterinary Journal·Royal A McGraw, K Paige Carmichael
May 10, 2015·Experimental Neurology·Frank MatthesUlrich Matzner
Jan 1, 2008·The American Journal of Pathology·Juan T BordaBruce A Bunnell
Jan 27, 1998·Biochemical and Molecular Medicine·P LuziD A Wenger
Apr 27, 2005·Molecular Therapy : the Journal of the American Society of Gene Therapy·Mohammad A RafiDavid A Wenger
Dec 7, 2000·Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·C D Warren, J Alroy
Sep 26, 2012·Cell Transplantation·Catarina Oliveira MirandaCarla Andreia Teixeira
Mar 4, 2020·Animals : an Open Access Journal From MDPI·Lena ProvoostMargret Casal
Sep 5, 1998·Journal of Inherited Metabolic Disease·K Suzuki, J E Månsson
Aug 26, 2016·Journal of Neuroscience Research·Yoichi Kondo, Ian D Duncan
Jan 23, 2019·The Journal of Clinical Investigation·Ala MoshiriSara M Thomasy
Sep 18, 2016·Journal of Neuroscience Research·Christina R Mikulka, Mark S Sands
Sep 18, 2016·Journal of Neuroscience Research·David A WengerPaola Luzi
Sep 18, 2016·Journal of Neuroscience Research·Subha Karumuthil-Melethil, Steven J Gray
Feb 11, 1998·Brain Pathology·K SuzukiK Suzuki
Mar 27, 2021·Neuroscience Letters·Allison M BradburyMark S Sands
Aug 28, 2021·International Journal of Neonatal Screening·David A WengerMohammad A Rafi

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