Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene

• Published in: Human molecular genetics Vol. 4; no. 4; p. 559
• Main Authors: Schrick, J J, Onuchic, L F, Reeders, S T, Korenberg, J, Chen, X N, Moyer, J H, Wilkinson, J E, Woychik, R P
• Format: Journal Article
• Language: English
• Published: England 01-04-1995
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 13; DNA, Complementary; Exons; Humans; Introns; Mice; Molecular Sequence Data; Polycystic Kidney, Autosomal Recessive - genetics; Proteins - genetics; Tumor Suppressor Proteins
• ISSN: 0964-6906
• DOI: 10.1093/hmg/4.4.559

We previously identified a gene from the mutant locus in a new mouse mutation that causes recessive polycystic kidney disease. Here we describe the cloning, characterization and mapping of the homologous human gene. The human and mouse genes are 95% identical at the predicted amino acid sequence level, and both genes encode a putative protein that contains a tetratricopeptide repeat motif. The human gene, called hTg737, is expressed with a broad tissue distribution that includes the the kidney and liver, and gives rise to a 2.9 kb mRNA. The gene contains 26 exons and spans a genomic region greater than 100 kb. Chromosome mapping experiments revealed that the hTg737 gene maps near the centromere on the long arm of human chromosome 13, at position 13q12.1. While this gene does not map to the primary locus that has been identified for ARPKD in humans, it may represent a candidate gene for other recessive renal disorders that have yet to be mapped.