一个与多囊肾病1基因（PKD1）相似的基因定位于4号染色体长臂2区2带：多囊肾病2基因（PKD2）的一个候选基因。

A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2.

作者信息

Schneider M C, Rodriguez A M, Nomura H, Zhou J, Morton C C, Reeders S T, Weremowicz S

机构信息

Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

出版信息

Genomics. 1996 Nov 15;38(1):1-4. doi: 10.1006/geno.1996.0584.

DOI:10.1006/geno.1996.0584

PMID:8954772

Abstract

We report a partial cDNA sequence that encodes a protein, dubbed "polycystwin," with 21% identify and 46% similarity to amino acids 3688-4109 of the carboxyl terminus of polycystin, the gene product of the autosomal dominant polycystic kidney disease locus located on chromosome 16 at band p13 (PKD1). Northern analysis demonstrates that the R48321 gene is expressed in all tissues examined, including both adult and fetal kidneys. Finally, in situ hybridization studies localize this novel gene to 4q22, where PKD2, the second most common locus for ADPKD, is known to map. Therefore, R48321 is an excellent candidate gene for PKD2.

摘要

我们报道了一个部分cDNA序列，它编码一种名为“多囊蛋白”的蛋白质，该蛋白质与位于16号染色体p13带的常染色体显性多囊肾病位点（PKD1）的基因产物多囊蛋白羧基末端的3688 - 4109位氨基酸有21%的一致性和46%的相似性。Northern分析表明，R48321基因在所检测的所有组织中均有表达，包括成人和胎儿的肾脏。最后，原位杂交研究将这个新基因定位到4q22，已知第二个最常见的成人多囊肾病位点PKD2也定位于此。因此，R48321是PKD2的一个极佳候选基因。