138
Views
7
CrossRef citations to date
0
Altmetric
Articles

Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness

, , , , , , , , , , & show all
Pages 2094-2103 | Received 29 Oct 2014, Accepted 14 Dec 2014, Published online: 23 Jan 2015

References

  • Altschul, S. F. , Madden, T. L. , Schäffer, A. A. , Zhang, J. , Zhang, Z. , Miller, W. , & Lipman, D. J. (1997). Gapped BLAST and PSI-BLAST: A new generation of protein database search programs. Nucleic Acids Research , 25 , 3389–3402.10.1093/nar/25.17.3389
  • Batlle, D. , Ghanekar, H. , Jain, S. , & Mitra, A. (2001). Hereditary distal renal tubular acidosis: New understandings. Annual Review of Medicine , 52 , 471–484.10.1146/annurev.med.52.1.471
  • Berman, H. M. , Westbrook, J. , Feng, Z. , Gilliland, G. , Bhat, T. N. , Weissig, H. , … Bourne, P. E. (2000). The Protein Data Bank. Nucleic Acids Research , 28 , 235–242.10.1093/nar/28.1.235
  • Borthwick, K. J. , Kandemir, N. , Topaloglu, R. , Kornak, U. , Bakkaloglu, A. , Yordam, N. , … Karet, F. E. (2003). A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. Journal of Medical Genetics , 40 , 115–121.10.1136/jmg.40.2.115
  • Bramucci, E. , Paiardini, A. , Bossa, F. , & Pascarella, S. (2012). PyMod: Sequence similarity searches, multiple sequence-structure alignments, and homology modeling within PyMOL. BMC Bioinformatics , 13 , S2.10.1186/1471-2105-13-S4-S2
  • Chu, C. Y. , King, J. , Berrini, M. , Rumley, A. C. , Apaja, P. M. , Lukacs, G. L. , … Cordat, E. (2014). Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells. AJP: Cell Physiology , 307 , C296–C307.10.1152/ajpcell.00310.2013
  • Dalton, J. A. , & Jackson, R. M. (2007). An evaluation of automated homology modelling methods at low target template sequence similarity. Bioinformatics , 23 , 1901–1908.10.1093/bioinformatics/btm262
  • Elhayek, D. , Perez de Nanclares, G. , Chouchane, S. , Hamami, S. , Mlika, A. , Troudi, M. , … Ariceta, G. (2013). Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: Proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Medical Genetics , 14 , 119.10.1186/1471-2350-14-119
  • Elia, A. , Voskarides, K. , Demosthenous, P. , Michalopoulou, A. , Malliarou, M. A. , Georgaki, E. , … Deltas, C. (2011). Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: First prenatal diagnosis. Nephron Clinical Practice , 117 , c206–c212.10.1159/000320192
  • Feldman, M. , Prikis, M. , Athanasiou, Y. , Elia, A. , Pierides, A. , & Deltas, C. C. (2006). Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clinical Genetics , 69 , 135–144.10.1111/(ISSN)1399-0004
  • Fuster, D. G. , Zhang, J. , Xie, X. S. , & Moe, O. W. (2008). The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. Kidney International , 73 , 1151–1158.10.1038/ki.2008.96
  • Gil, H. , Santos, F. , García, E. , Álvarez, M. V. , Ordóñez, F. A. , Málaga, S. , & Coto, E. (2007). Distal RTA with nerve deafness: Clinical spectrum and mutational analysis in five children. Pediatric Nephrology , 22 , 825–828.10.1007/s00467-006-0417-7
  • Hahn, H. , Kang, H. G. , Ha, I. S. , Cheong, H. I. , & Choi, Y. (2003). ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. American Journal of Kidney Diseases , 41 , 238–243.10.1053/ajkd.2003.50014
  • Han, J. S. , Kim, G. H. , Kim, J. , Jeon, U. S. , Joo, K. W. , Na, K. Y. , … Lee, J. S. (2002). Secretory-defect distal renal tubular acidosis is associated with transporter defect in H(+)-ATPase and anion exchanger-1. Journal of the American Society of Nephrology , 13 , 1425–1432.10.1097/01.ASN.0000013882.73122.2B
  • Karet, F. E. , Finberg, K. E. , Nayir, A. , Bakkaloglu, A. , Ozen, S. , Hulton, S. A. , … Lifton, R. P. (1999). Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. The American Journal of Human Genetics , 65 , 1656–1665.10.1086/302679
  • Karet, F. E. , Finberg, K. E. , Nelson, R. D. , Nayir, A. , Mocan, H. , Sanjad, S. A. , … Lifton, R. P. (1999). Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics , 21 , 84–90.10.1038/5022
  • Kumar, P. S. , Venkatesh, K. , Srikanth, L. , Sarma, P. V. , Reddy, A. R. , Subramanian, S. , & Phaneendra, B. V. (2013). Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma. Indian Journal of Human Genetics , 19 , 373–376.
  • Laskowski, R. A. (2001). PDBsum: Summaries and analyses of PDB structures. Nucleic Acids Research , 29 , 221–222.10.1093/nar/29.1.221
  • Laskowski, R. A. , MacArthur, M. W. , Moss, D. S. , & Thornton, J. M. (1993). PROCHECK: A program to check the stereochemical quality of protein structures. Journal of Applied Crystallography , 26 , 283–291.10.1107/S0021889892009944
  • Miura, K. , Sekine, T. , Takahashi, K. , Takita, J. , Harita, Y. , Ohki, K. , … Igarashi, T. (2013). Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. Nephrology, Dialysis, Transplantation , 28 , 2123–2130.10.1093/ndt/gft216
  • Mohebbi, N. , Vargas-Poussou, R. , Hegemann, S. C. , Schuknecht, B. , Kistler, A. D. , Wüthrich, R. P. , & Wagner, C. A. (2013). Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics , 83 , 274–278.10.1111/cge.2013.83.issue-3
  • Nikki, R. , Martin, B. , Gus, O. , Mato, N. , Elena, T. , & Paul, G. (2012). Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness. Case Reports in Pediatrics , 2012 , 605053.
  • Pasupuleti, S. K. , Katari, V. , Lokanathan, S. , Uppu, V. P. , Thummaginjala, S. S. , Akkamgari, R. P. , … Potukuchi, V. G. (2014). Novel frame shift mutations (‘A’ deletion) observed in exon 9 of Wilms’ tumor (WT1) gene in a patient reported with glomerulosclerosis. Gene , 546 , 63–67.10.1016/j.gene.2014.05.037
  • Rodríguez-Soriano, J. (2000). New insights into the pathogenesis of renal tubular acidosis – From functional to molecular studies. Pediatric Nephrology , 14 , 1121–1136.10.1007/s004670000407
  • Sethi, S. K. , Singh, N. , Gil, H. , & Bagga, A. (2009). Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Indian Pediatrics , 46 , 425–427.
  • Sharifian, M. , Esfandiar, N. , Mazaheri, S. , Kariminejad, A. , Mohkam, M. , Dalirani, R. , … Hassas-Yeganeh, M. (2010). Distal renal tubular acidosis and its relationship with hearing loss in children: Preliminary report. Iranian Journal of Kidney Diseases , 4 , 202–206.
  • Simpson, A. M. , & Schwartz, G. J. (2001). Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency. Archives of Disease in Childhood , 84 , 504–507.10.1136/adc.84.6.504
  • Stover, E. H. , Borthwick, K. J. , Bavalia, C. , Eady, N. , Fritz, D. M. , Rungroj, N. , … Karet, F. E. (2002). Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. Journal of Medical Genetics , 39 , 796–803.10.1136/jmg.39.11.796
  • Thompson, J. D. , Gibson, T. J. , Plewniak, F. , Jeanmougin, F. , & Higgins, D. G. (1997). The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Research , 25 , 4876–4882.10.1093/nar/25.24.4876
  • Trott, O. , & Olson, A. J. (2010). AutoDock Vina: Improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading. Journal of Computational Chemistry , 31 , 455–461.
  • Van Der Spoel, D. , Lindahl, E. , Hess, B. , Groenhof, G. , Mark, A. E. , & Berendsen, H. J. (2005). GROMACS: Fast, flexible, and free. Journal of Computational Chemistry , 26 , 1701–1718.10.1002/(ISSN)1096-987X
  • Vargas-Poussou, R. , Houillier, P. , Le Pottier, N. , Strompf, L. , Loirat, C. , Baudouin, V. , … Blanchard, A. (2006). Genetic investigation of autosomal recessive distal renal tubular acidosis: Evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. Journal of the American Society of Nephrology , 17 , 1437–1443.10.1681/ASN.2005121305
  • Vivante, A. , Lotan, D. , Pode-Shakked, N. , Landau, D. , Svec, P. , Nampoothiri, S. , … Anikster, Y. (2011). Familial autosomal recessive renal tubular acidosis: Importance of early diagnosis. Nephron Physiology , 119 , 31–39.10.1159/000329668

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.