The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization.
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.
Karasawa
M
M
Kernforschungszentrum Karlsruhe, Institute of Genetics, Germany.
Zwacka
R M
RM
Reuter
A
A
Fink
T
T
Hsieh
C L
CL
Lichter
P
P
Francke
U
U
Weiher
H
H
D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D017931:DNA Primers; D004251:DNA Transposable Elements; D004195:Disease Models, Animal; D005091:Exons; D005808:Genes, Recessive; D005921:Glomerulonephritis / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D009404:Nephrotic Syndrome / Q000235:genetics*; D012190:Retroviridae / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
D017931:DNA Primers; D004251:DNA Transposable Elements