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The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization
M Karasawa1, R M Zwacka, A Reuter
1Kernforschungszentrum Karlsruhe, Institute of Genetics, Germany.
Abstract:
Mice carrying a retroviral insert in both alleles of the Mpv17 gene develop glomerulosclerosis and nephrotic syndrome at young age. Thus, the Mpv17 gene is a recessive disease gene in mice and this mouse strain is a potential animal model for glomerular diseases in man. We here describe the isolation and analysis of a human homolog of this gene. By interspecies hybridisation cDNA clones representing a single RNA species were isolated from human liver. Sequence analysis revealed over 90% identify in a region coding for a protein of 176 amino acids and unknown function in both species. Cloning of the genomic locus revealed a single copy gene which we mapped to the short arm of chromosome 2 at band 2p23-p21. Determination of the intron-exon structure and the junction sequences enabled us to establish a PCR based procedure to isolate the coding region from human genomic DNA. Thus, it is now possible to analyse patients suffering from candidate diseases on the basis of a blood sample if biopsy material is not available.
Insights
Researchers isolated and analyzed a human homolog of the Mpv17 gene, crucial for kidney function. This discovery aids in diagnosing glomerular diseases using blood samples, offering a new diagnostic approach.
Area of Science:
- Genetics
- Molecular Biology
- Nephrology
Background:
- Mice with Mpv17 gene mutations develop kidney disease, suggesting its role in glomerular health.
- This mouse model offers potential for studying human kidney diseases.
Purpose of the Study:
- To isolate and characterize the human homolog of the Mpv17 gene.
- To develop a diagnostic method for Mpv17-related kidney diseases.
Main Methods:
- Interspecies hybridization to isolate cDNA clones from human liver.
- Sequence analysis to determine protein homology.
- Genomic locus cloning and mapping to chromosome 2p23-p21.
- Determination of intron-exon structure for PCR-based analysis.
Main Results:
- Identified a human Mpv17 homolog with over 90% sequence identity in a key protein-coding region.
- The human gene is a single-copy gene located on chromosome 2.
- Established a PCR-based method to analyze the gene's coding region from genomic DNA.
Conclusions:
- The human Mpv17 gene is conserved and plays a role in kidney function.
- A diagnostic method using PCR on blood samples is now feasible for Mpv17-related diseases.
- This facilitates patient analysis when biopsy material is unavailable.