Journal Article

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

C. Melissa Dobson, Timothy Wai, Daniel Leclerc, Hakan Kadir, Monica Narang, Jordan P. Lerner-Ellis, Thomas J. Hudson, David S. Rosenblatt and Roy A. Gravel

in Human Molecular Genetics

Volume 11, issue 26, pages 3361-3369
Published in print December 2002 | ISSN: 0964-6906
Published online December 2002 | e-ISSN: 1460-2083 | DOI: https://dx.doi.org/10.1093/hmg/11.26.3361
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

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The methylmalonic acidurias are metabolic disorders resulting from deficient methylmalonyl-CoA mutase activity, a vitamin B12-dependent enzyme. We have cloned the gene for the cblB complementation group caused by deficient activity of a cob(I)alamin adenosyltransferase. This was accomplished by searching bacterial genomes for genes in close proximity to the methylmalonyl-CoA mutase gene that might encode a protein with the properties of an adenosyltransferase. A candidate was identified in the Archaeoglobus fulgidus genome and was used to probe the human genome database. It yielded a...

Journal Article.  5789 words.  Illustrated.

Subjects: Genetics and Genomics

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