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X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex
R M Brown1, H H Dahl, G K Brown
1Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
Abstract:
The functional gene locus for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been localized to the p22.1-22.2 region of the X chromosome by in situ hybridization and analysis of somatic cell hybrids with various human X-chromosome rearrangements. Another locus showing significant cross-hybridization with an E1 alpha cDNA probe was detected on chromosome 4, in the region q22. The X-chromosome localization of the pyruvate dehydrogenase E1 alpha subunit gene provides a number of possible explanations for the clinical and biochemical variability which is a major feature of human pyruvate dehydrogenase deficiency.