Cell. 1994 Jun 17;77(6):881-94. doi: 10.1016/0092-8674(94)90137-6.
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal failure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3. We identified a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in the PKD1 candidate region. Further mutations of the PBP gene were found in PKD1 patients, two deletions (one a de novo event) and a splicing defect, confirming that PBP is the PKD1 gene. This gene is located adjacent to the TSC2 locus in a genomic region that is reiterated more proximally on 16p. The duplicate area encodes three transcripts substantially homologous to the PKD1 transcript. Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein whose function is at present unknown.
常染色体显性多囊肾病（ADPKD）是一种常见的遗传性疾病，由于囊肿不断发展，常常导致肾衰竭。主要基因座PKD1定位于16p13.3。我们发现了一种与ADPKD相关的染色体易位，该易位破坏了PKD1候选区域中一个编码14kb转录本的基因（PBP）。在PKD1患者中发现了PBP基因的进一步突变，包括两个缺失（其中一个是新生事件）和一个剪接缺陷，证实PBP就是PKD1基因。该基因位于基因组区域中与TSC2基因座相邻的位置，在16p上更靠近近端的区域存在重复。重复区域编码三种与PKD1转录本高度同源的转录本。PKD1转录本的部分序列分析表明，它编码一种功能目前未知的新蛋白质。
