| 摘要 |
A novel gene involved in autosomal recessive polycystic kidney disease has been isolated. The nucleic acid sequence of the mouse gene, Cys1, and the human homologue, CYS1, are disclosed. In addition, a mutant of the Cys1 nucleic acid containing a tandem deletion is described. The Cys1 and CYS1 nucleic acids are associated with ARPKD. Southern analyses indicate that the Cys1 gene exists as a single-copy in the mouse and other mammals. The Cys1 nucleic encodes a novel, hydrophilic protein of 145 amino acids, termed cystin, that has no significant similarity to previously characterized proteins or protein domains. The polypeptide product of the Cys1 gene is detected in cilia and contains a sequence required for localization to the cilia. |
