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The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping
S Yamanaka1, O N Johnson, M S Lyu
1Section on Biochemical Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.
Genomics
|December 1, 1994
Summary
Researchers isolated and sequenced mouse GM2 activator protein (Gm2a) cDNA. This protein is crucial for GM2 ganglioside degradation, and its gene
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- GM2 activator protein facilitates GM2 ganglioside breakdown by beta-hexosaminidase A.
- Mutations in the human GM2A gene cause GM2 gangliosidosis AB variant, a severe neurological disorder.
Purpose of the Study:
- To isolate and sequence the mouse GM2 activator protein (Gm2a) cDNA.
- To characterize the expression and chromosomal location of the mouse Gm2a gene.
Main Methods:
- cDNA isolation and sequencing of mouse Gm2a.
- Analysis of Gm2a transcript expression across various mouse tissues.
- Gene mapping of Gm2a and a related sequence (Gm2a-rs1) to mouse chromosomes.
Main Results:
- Complete coding and 3' untranslated regions of mouse Gm2a cDNA were obtained.
- The Gm2a transcript (approx. 2.3 kb) is expressed in all examined tissues, with highest levels in kidney and testis.
- The Gm2a gene was mapped to mouse chromosome 11, homologous to human chromosome 5.
- A Gm2a-related sequence (Gm2a-rs1) was mapped to mouse chromosome 5.
Conclusions:
- The study provides the sequence and expression profile of mouse Gm2a, aiding in understanding GM2 gangliosidosis.
- Mapping of the mouse Gm2a gene to chromosome 11 offers insights into conserved synteny with human chromosome 5.
- Identification of Gm2a-rs1 on mouse chromosome 5 suggests potential gene duplication or pseudogene formation.