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Human lactate dehydrogenase-B processed pseudogene: nucleotide sequence analysis and assignment to the X-chromosome
K Sudo1, M Maekawa, M M Luedemann
1Laboratory of Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Biochemical and Biophysical Research Communications
|August 31, 1990
Summary
Researchers identified a lactate dehydrogenase-B pseudogene in patients with a deficiency in this enzyme. This pseudogene, located on the X-chromosome, shows significant sequence divergence from the functional gene.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Lactate dehydrogenase-B (LDH-B) isozymes are crucial for cellular energy metabolism.
- Deficiencies in LDH-B isozymes can lead to various health issues.
- Pseudogenes, non-functional gene copies, can provide insights into gene evolution and regulation.
Purpose of the Study:
- To isolate and characterize the lactate dehydrogenase-B processed pseudogene in patients with LDH-B deficiency.
- To determine the sequence homology and identify mutations within the pseudogene.
- To map the chromosomal location of the LDH-B pseudogene.
Main Methods:
- Isolation of human genomic clones from patients with LDH-B deficiency.
- DNA sequencing of pseudogenes and flanking regions.
- Sequence alignment with the functional lactate dehydrogenase-B gene cDNA.
- Dot-blot analysis for chromosomal mapping.
Main Results:
- Two human genomic clones containing the LDH-B processed pseudogene were successfully isolated.
- The pseudogene sequences showed 93% homology to the functional LDH-B gene cDNA, with numerous base substitutions, deletions, and insertions.
- The LDH-B pseudogene was mapped to the X-chromosome.
Conclusions:
- The identified pseudogene is a processed pseudogene, likely arising from retrotransposition.
- Sequence analysis reveals significant divergence, explaining its non-functional nature.
- The X-chromosome location provides a basis for further genetic studies related to LDH-B deficiency.