Volume 53, Issue 5, Pages (May 1998)

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Volume 53, Issue 5, Pages 1127-1132 (May 1998) A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene York Pei, Kairong Wang, Margareth Kasenda, Andrew D. Paterson, Yan Liang, Eric Huang, Jeromy Lian, Ekaterina Rogovea, Stefan Somlo, Peter St. George-Hyslop Kidney International Volume 53, Issue 5, Pages 1127-1132 (May 1998) DOI: 10.1046/j.1523-1755.1998.00890.x Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree structure of TOR-PKD77. Circles represent females, and squares represent males. All affected individuals are indicated by blackened symbols, all unaffected individuals are shown in open symbols, and all individuals whose affection status is unknown are shown with (?). A diagonal line through the symbol indicates the individual is deceased. The age of death is shown in [ ], and the age at the last ultrasound is shown in ( ). The proband is indicated by the arrowhead. Kidney International 1998 53, 1127-1132DOI: (10.1046/j.1523-1755.1998.00890.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 2 Sequence tracings of genomic PCR products showing the TOR-PKD77 PKD2 mutation. The sequence of the normal allele is shown above the electropherograms of the control (Ct; III:12) and patient (Pt; IV:10) samples, while the mutant sequence is shown below the patient tracing. The patient sample reveals a heterozygous mutation for a single adenosine insertion at nucleotide 2160 immediately after the polyadenosine tract (nt 2152-2159) on exon 11. This mutation is predicted to result in a frameshift with premature translation termination of polycystin 2, immediately after codon 723 (amino acid codes are: K, lysine; N, asparagine; T, threonine; V, valine; D, aspartic acid; Y, tyrosine; R, arginine; G, glutamine; X, stop codon). Kidney International 1998 53, 1127-1132DOI: (10.1046/j.1523-1755.1998.00890.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 3 Representative results of segregation analysis by allele specific oligonucleotide (ASO) hybridization. Polymerase chain reaction (PCR) products amplified from the genomic region containing the PKD2 mutation were denatured and blotted in duplicate on to two Hybond-N+ membranes. ASO hybridization was performed with two oligonucleotide probes [wild-type (W), 5′-ACTGAAAAAAAATACCGTG-3′; and mutant (M), 5′-CTGAAAAAAAAATACCGTG-3′], which detect the normal and mutant sequence, respectively. The wild-type probe hybridized to the PCR products from both the affected and unaffected individuals, while the mutant probe hybridized only to the PCR products from the affected patients (that is, III:11, III:13, III:14, and IV:3,10). Kidney International 1998 53, 1127-1132DOI: (10.1046/j.1523-1755.1998.00890.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 4 A model of PKD2 gene product, polycystin 2, with correlation to exon structure9,24. The six transmembrane spans predicted by the hydrophobicity plot are shown as cylinders within the cell membrane. The coil structures located in exon 12 denote the calcium-binding EF hand domain. The coiled-coil domain that mediates the interaction between polycystin 1 and 2 is located in exons 12 and 1328. The position of a second coiled-coil domain for PKD2 self-dimerization has not been mapped precisely, but is located within exons 13-1529. The mutation described in this report is predicted to result in a frameshift with premature translation termination of polycystin 2. The location of the stop codon resulting from this mutation is indicated by the symbol, X. The truncated protein is predicted to lack the EF-hand and the coiled-coil domains. Kidney International 1998 53, 1127-1132DOI: (10.1046/j.1523-1755.1998.00890.x) Copyright © 1998 International Society of Nephrology Terms and Conditions