Volume 64, Issue 3, Pages (September 2003)

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Volume 64, Issue 3, Pages 923-932 (September 2003) Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome Melanie Peters, Saskia Ermert, Nikola Jeck, Christian Derst, Ulla Pechmann, Stefanie Weber, Karl P. Schlingmann, Hannsjoerg W. Seyberth, Siegfried Waldegger, Martin Konrad Kidney International Volume 64, Issue 3, Pages 923-932 (September 2003) DOI: 10.1046/j.1523-1755.2003.00153.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Distribution of hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS) missense mutations in ROMK1. Mutations investigated in this study are indicated by dark gray circles. Most mutations cluster in the channel core region or in vicinity of the pH sensor domain. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Examples of oocytes injected with 0.1ng cRNA. Correct insertion in the oocyte membrane is shown in wild-type (WT)-ROMK expressing oocytes (A) and the R311W mutant (C). In contrast, negative staining is demonstrated in water (H2O)-injected oocytes (B) and F325C (D), indicating intracellular retention of this mutant. Arrows indicate the plasma membrane. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 3 Functional analysis of 20 ROMK mutations after expression of 0.1ng cRNA. Current amplitudes were measured at a voltage step of –10mV at an ambient K+ concentration of 98mmol/L, pH 7.4. Data are given as mean ± SEM. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 4 Examples of ROMK expression of each group in HEK293 cells. A membrane negative staining pattern is demonstrated for an early stop mutation W77X (B), and F325C (D), whereas staining in the plasma membrane is shown in ROMK-wild-type (WT) expressing HEK293 cells (A) and A177T (C). Confocal images obtained from 5 to 11 optic sections are shown. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 5 Oocytes injected with 0.1ng (A) and 1ng cRNA (B) are shown with negative membrane staining after expression of 0.1ng cRNA and positive membrane-staining after injection of the tenfold excess of cRNA. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 6 Functional analysis of 20 ROMK mutations after expression of 0.1ng (□) and 1ng (▪) cRNA. Current amplitudes were measured at a voltage step of –10mV at an ambient K+ concentration of 98mmol/L, pH 7.4. Data are given as mean ± SEM. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 7 Western blot analysis of ROMK Y79X after treatment with gentamicin and G-418 after 22 hours incubation time.Ø indicates untransfected HEK cells. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 8 Expression of ROMK W77X (A toC) and Y79X (D toF) in HEK293 cells before and after treatment with gentamicin (genta) and G-418 after 18 to 22 hours incubation time. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 9 Classification into five mutational classes (adopted from [16]), according to the underlying defect and assignment of the ROMK mutations investigated in our study together with ROMK mutations that had been clarified before [10,11,24] into these classes. Kidney International 2003 64, 923-932DOI: (10.1046/j.1523-1755.2003.00153.x) Copyright © 2003 International Society of Nephrology Terms and Conditions