Dr. Francis Y.M. Choy
B.Sc. (Microbiology, University of Manitoba), M.Sc., (Microbiology, University of
North Dakota), Ph.D. (Biochemistry, University of North Dakota), Professor, Centre for
Teaching: Cell Biology (Biol. 225), Genetics (Biol. 230), Molecular Genetics (Biol.
361), Biotechnolgy and Principles of Genetics (Biol. 401A), Human Molecular Genetics
(Biol. 436), and Advanced Human Molecular Genetics (Biol. 536).
Honours: Recipient of the Excellence in Teaching Award, Faculty of Science, University
of Victoria, 2002.
Research: Molecular genetics and enzymology of lysosomal storage diseases; molecular
evolution of ß-glucosidase gene among primates; functional genomics.
My research is focussed on the molecular biology and biochemistry of lysosomal
enzymes, and their implications in lipid metabolism and mental function. I have chosen
glucocerebrosidase as a model for my study. Glucocerebrosidase is of interest to me
because its activity is profoundly deficient in an inherited metabolic disorder known as
Gaucher disease prevalent among human, canine and rodent species. The natural
substrate of glucocerebrosidase is glucocerebroside, an ubiquitous lipid present in the
plasma membrane of all mammalian cells. It is not well understood why deficient activity
of apparently the same enzyme will result in very different forms of Gaucher disease,
varying from the non-neuronopathic and occasionally asymptomatic type 1 form to the
devastating type 2 form that results in death before two years of age. My research
objectives are to identify and characterize the various mutations from fibroblast cell lines
of patient with different clinical subtypes, and to correlate the nature of the genetic
defect(s) at the DNA level to the biochemical defect(s) at the protein-enzyme level. Data
obtained will be useful towards a better understanding of the role of lysosomal enzyme in
lipid metabolism, and in genetic counselling, and in the development of enzyme- and
Since a pseudogene that shares 96% sequence similarity is found proximal to the
functional gene in human, we are surveying and characterizing the pseudogene among
primates and other mammalian species in order to understand more about its molecular
Francis Y.M. Choy, Weimin Zhang, Hui-Ping Shi, Agnes Zay, Tessa Campbell,
Nelson Tang, and Patrick Ferreira. Gaucher disease among Chinese patients:
Review on genotype/phenotype correlation from 29 patients and identification of
novel and rare alleles. Blood Cells, Molecules, and Diseases. In press, November,
Graham B. Sinclair, Francis Y.M. Choy, Gareth Jevon, Karen E. Colobong,
Derrick R. Randall, and Lorne A. Clarke. Generation of a conditional knockout
model of murine glucocerebrosidase: Utility for the study of Gaucher disease.
Molecular Genetics and Metabolism, accepted for publication, September, 2006.
Bandsmer J, Campbell T, Cheyne I, and Choy, F.Y.M. 2006. Expression of active
α-N-acetylglucosaminidase/TAT chimerae in Spodoptera frugiperda (Sf9) cells.
Protein and Peptide Research Letter 13:353-356.
Sinclair, G., Pfeiffer, T., Gligliatti, T., and Choy, F.Y.M. 2006. Secretion of
human glucocerebrosidase from stable transfected insect cells using native signal
sequences. Biochemistry and Cell Biology 84:148-156.
Tang, N.S.L., Zhang, W., Grabowski, G.A., To, K.F., Choy, F.Y.M., Ma, S.L.,
and Shi, H.P. 2005. Novel mutations in type 2 Gaucher disease in Chinese
patients and their functional characterization by in-vitro expression. Human
Mutation 26(1):59-62, 2005. Full length article available on line from the journal
Vaags, A., Campbell, T. and Choy, F.Y.M. 2005. HIV TAT variants
differentially influence the production of glucocerebrosidase in Sf9 cells. 2005.
Genetics and Molecular Research, 4(3): 491-495.
Wafaei J.R. and Choy, F.Y.M. 2005. Glucocerebrosidase recombinant allele:
Molecular evolution of the functional gene and pseudogene. 2005. Blood Cells,
Molecules, and Diseases 35:277-285.
Campbell, T. and Choy, F.Y.M. 2005. RNA interference: Past, present and future.
Current Topics in Molecular Biology, 7:1-6.
Campbell, T. and Choy, F.Y.M. 2004. Knockdown of chimeric
glucocerebrosidase by green fluorescent protein-directed small interfering
RNA.Genetics and Molecular Research, 3 (2): 282-287.
Choy, F.Y.M. 2003. Identification of a promoter defect in the Gaucher Gene.
Proceedings to the Symposium on Lysosomal Storage Disorders, 3:33-34.
Choy, F.Y. M., Vaags, A., Wong, C., and Prassad, C., 2002. Identification of two
novel mutations (L105R and C342R) in two type 1 Gaucher disease patients.
Clinical Genetics, 61:229-231.
Sinclair, G. and Choy, F.Y.M., 2002. Codon bias and utilisation by Pichia
pastoris in the functional expression of human recombinant glucocerebroisdase.
Protein Expression and Purification, 26 96-105.
Campbell, T. and Choy, F.Y.M.. 2002. Screening of genomic library among
prokaryotes. Journal of Molecular Microbiology and Biotechnology, 4 (6), 551-
Campbell, T. and Choy, F.Y.M. 2002. Expression of two green fluorescent
protein variants in citrate-buffered media in Pichia pastoris. Analytical
Campbell, T. and Choy, F.Y.M. (2001) Screening bacterial and yeast
transformants using PCR. Biotechnology Journal International, 6(6):10-11.
Campbell, T. and Choy, F.Y.M. (2001) Protein trafficking in the biosynthetic
pathway. Molecular Biology Today, 2(3):67-76.
Sinclair, G., Choy, F.Y.M., Ferreira, P. (2001) Heterologous expression and
characterization of a rare Gaucher Disease mutation (P122S) from a Canadian
aboriginal population using archival tissue samples. Molecular Genetics and
Campbell, Tessa N. and Choy, F.Y.M. (2001) Large-scale colony screening and
insert orientation determination using PCR. Biotechniques 30:32-34.
Campbell, Tessa N. and Choy, F.Y.M. (2001) The effect of pH on green
fluorescent protein: A brief review. Molecular Biology Today 2:1-4.
Choy, F.Y.M., Sharp, L., and Applegarth, D. (2000) Glycine cleavage enzyme
complex: Rabbit H-protein cDNA sequence analysis and comparison to human,
cow and chicken. Biochemistry and Cell Biology 78:175-180.
Choy, F.Y.M., Sharp, L., and Applegarth, D. Nucleotide sequence of the
complete coding region of rabbit (Oryctolagus caniculus) hydrogen carrier (H-)
protein gene. Genebank Accession No. BankIt 318281 AF231451, May, 2000.
Devost, N. and Choy, F.Y.M. (2000) Mutation analysis of Gaucher disease using
dot blood samples on FTA filter papers. American Journal of Medical Genetics
Choy, F.Y.M., Wong, K., Vallence, D.H., and Baldwin, V. Novel point mutation
(W184R) in neonatal type 2 Gaucher disease. (2000) Pediatric and Developmental
Choy, F.Y.M, Wong, K., and Shi, H.P. (1999) Glucocerebrosidase mutations
among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
American Journal of Medical Genetics 84:484-486.
Sinclair G, Choy FYM, Humphries L (1998) A novel complex allele and two
new point mutations in type 2 (acute neuronopathic) Gaucher disease. Blood
Cells, Molecules, and Diseases 24: (20) 420-427.
Choy FYM, Humphries ML, Ben-Yoseph Y (1998) Gaucher type 2 disease:
Identification of a novel transversion mutation in a French-Irish patient.
American Journal of Medical Genetics 78: (1) 92-93.
Choy FYM, Humphries L, Ben-Yoseph Y (1998) A novel mutation (V191G) in a
German-British type 1 Gaucher disease patient. Human Mutation vol.11, p.411-
Choy, F.Y.M., Humphries, M.L. and Shi, H.P. 1997. Identification of two novel
and four uncommon missense mutations among Chinese Gaucher disease patients.
Am. J. Med. Gen. 71: 172-178.
Choy, F.Y.M., Humphries, M.L. and Ferreira, P. 1997. Novel Insertion Mutation
in a Non-Jewish Caucasian Type 1 Gaucher Disease Patient. Am. J Med. Gen. 68:
Choy, F.Y.M., Linsey, J. and MacLeod, P.D. 1997. Gaucher disease: molecular
screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British
Columbia, Canada. J Med. Gen. 34(1): 83-85.
Choy, F.Y.M., Wei, C. and Levin, D. 1996. Gaucher Disease: Functional
Expression of the Normal Glucocerebrosidase and Gaucher T1366G and G1604A
Alleles in Baculovirus-Transfected Spodoptera frugiperda Cells. Am. J Med.
Gen. 65: 184-189.
Choy, F.Y.M. and Wei, C. 1995. Identification of a New Mutation (P178S) in an
African-American Patient With Type 2 Gaucher Disease. Human Mutation 5:
Choy, F.Y.M. 1995. Type 2 Gaucher disease without the complex alleles.
Journal of Clinical Laboratory Analysis 9:340-341.
Choy, F.Y.M., Wei, C., Applegarth, D.A. and McGillirray, B.1994. DNA
analysis of an uncommon missense mutation in a Gaucher disease patient of
Jewish-Polish-Russian descent. American Journal of Medical Genetics 51: 156-
Choy, F.Y.M., Wei, C., Applegarth, D.A. and Yong, S.L., 1994. A new missense
mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher
disease patient. Human Molecular Genetics 3: 821-823.