The medaka mutation tintachina sheds light on the evolution of V-ATPase B subunits in vertebrates

Scientific Reports

Volumn 3, Issue , 2013, Pages

  Müller, Claudia ^b   Maeso, Ignacio ^c   Wittbrodt, Joachim ^b   Martínez Morales, Juan R ^a  

^a Departamento de Biología Molecular e Ingeniería Bioquímica   (Spain)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SUBUNIT; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ANIMAL; EVOLUTION; GENETICS; MOLECULAR GENETICS; MUTATION; ORYZIAS; PHENOTYPE; PROTEIN SUBUNIT; VERTEBRATE;

ANIMALS; BIOLOGICAL EVOLUTION; MOLECULAR SEQUENCE DATA; MUTATION; ORYZIAS; PHENOTYPE; PROTEIN SUBUNITS; VACUOLAR PROTON-TRANSLOCATING ATPASES; VERTEBRATES;

EID: 84889563218     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep03217     Document Type: Article

References (43)

1. Jefferies, K. C., Cipriano, D. J. & Forgac, M. Function, structure and regulation of the vacuolar (H1)-ATPases. Arch Biochem Biophys 476, 33-42 (2008)
2. Mijaljica, D., Prescott, M. & Devenish, R. J. V-ATPase engagement in autophagic processes. Autophagy 7, 666-8 (2011)
3. Nishi, T. & Forgac, M. The vacuolar (H1)-ATPases -nature's most versatile proton pumps. Nat Rev Mol Cell Biol 3, 94-103 (2002)
4. Wagner, C. A. et al. Renal vacuolarH1-ATPase. Physiol Rev 84, 1263-314 (2004)
5. Breton, S. et al. The B1 subunit of the H1ATPase is a PDZ domain-binding protein. Colocalization with NHE-RF in renal B-intercalated cells. J Biol Chem 275, 18219-24 (2000)
6. Frattini, A. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25, 343-6 (2000) (Pubitemid 30437326)
7. Karet, F. E. et al.Mutations in the gene encoding B1 subunit ofH1-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21, 84-90 (1999) (Pubitemid 29036289)
8. Smith, A. N. et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26, 71-5 (2000)
9. Finberg, K. E. et al. The B1-subunit of the H(1) ATPase is required for maximal urinary acidification. Proc Natl Acad Sci U S A 102, 13616-21 (2005)
10. Vasilyeva, E., Liu, Q.,MacLeod, K. J., Baleja, J. D. & Forgac, M. Cysteine scanning mutagenesis of the noncatalytic nucleotide binding site of the yeast V-ATPase. J Biol Chem 275, 255-60 (2000) (Pubitemid 30038980)
11. Davies, S. A. et al. Analysis and inactivation of vha55, the gene encoding the vacuolar ATPase B-subunit in Drosophila melanogaster reveals a larval lethal phenotype. J Biol Chem 271, 30677-84 (1996)
12. van Hille, B. et al.Heterogeneity of vacuolar H(1)-ATPase: Differential expression of two human subunit B isoforms. Biochem J 303 (Pt 1), 191-8 (1994) (Pubitemid 24302918)
13. Paunescu, T. G., Jones, A. C., Tyszkowski, R.&Brown, D. V-ATPase expression in the mouse olfactory epithelium. Am J Physiol Cell Physiol 295, C923-30 (2008)
14. Miller, R. L. et al. V-ATPase B1-subunit promoter drives expression of EGFP in intercalated cells of kidney, clear cells of epididymis and airway cells of lung in transgenic mice. Am J Physiol Cell Physiol 288, C1134-44 (2005)
15. Sprague, J. et al. The Zebrafish Information Network: The zebrafish model organism database. Nucleic Acids Res 34, D581-5 (2006)
16. Boesch, S. T., Eller, B.&Pelster, B. Expression of two isoforms of the vacuolar-type ATPase subunit B in the zebrafish Danio rerio. J Exp Biol 206, 1907-15 (2003) (Pubitemid 36715034)
17. Niederstatter, H. & Pelster, B. Expression of two vacuolar-type ATPase B subunit isoforms in swimbladder gas gland cells of the European eel: Nucleotide sequences and deduced amino acid sequences. Biochim Biophys Acta 1491, 133-42 (2000) (Pubitemid 30173339)
18. Borthwick, K. J. et al. A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. JMed Genet 40, 115-21 (2003) (Pubitemid 36232816)
19. Loosli, F. et al.Mutations affecting retina development inMedaka. Mech Dev 121, 703-14 (2004) (Pubitemid 38813129)
20. Martinez-Morales, J.-R., Naruse, K., Mitani, H., Shima, A. & Wittbrodt, J. Rapid chromosomal assignment of Medaka mutants by bulked segregant analysis. Gene 329, 159-165 (2004) (Pubitemid 38366504)
21. Golling, G. et al. Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development. Nat Genet 31, 135-40 (2002)
22. Madsen, E. C. & Gitlin, J. D. Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism. PLoS Genet 4, e1000261 (2008)
23. Nuckels, R. J., Ng, A., Darland, T. & Gross, J. M. The vacuolar-ATPase complex regulates retinoblast proliferation and survival, photoreceptor morphogenesis, and pigmentation in the zebrafish eye. Invest Ophthalmol Vis Sci 50, 893-905 (2009)
24. Yamamoto, T. Medaka (Killifish), Biology and Strains, (Keigaku Publishing Company, Tokyo, 1975)
25. Loosli, F. et al. A genetic screen for mutations affecting embryonic development in medaka fish (Oryzias latipes). Mechanisms of Development 97, 133-139 (2000)
26. Nakashima, S. et al. Vacuolar H1-ATPase inhibitor induces apoptosis via lysosomal dysfunction in the human gastric cancer cell line MKN-1. J Biochem 134, 359-64 (2003) (Pubitemid 37288334)
27. De Milito, A. et al. Proton pump inhibitors induce apoptosis of human B-cell tumors through a caspase-independent mechanism involving reactive oxygen species. Cancer Res 67, 5408-17 (2007) (Pubitemid 46997281)
28. Li, G. et al. A novel cellular survival factor-the B2 subunit of vacuolar H1-ATPase inhibits apoptosis. Cell Death Differ 13, 2109-17 (2006) (Pubitemid 44742694)
29. Amores, A. et al. Zebrafish hox clusters and vertebrate genome evolution. Science 282, 1711-4 (1998) (Pubitemid 28549287)
30. Amores, A., Catchen, J., Ferrara, A., Fontenot, Q. & Postlethwait, J. H. Genome evolution and meiotic maps by massively parallel DNA sequencing: spotted gar, an outgroup for the teleost genome duplication. Genetics 188, 799-808 (2011)
31. Hoegg, S., Brinkmann, H., Taylor, J. S. & Meyer, A. Phylogenetic timing of the fish-specific genome duplication correlates with the diversification of teleost fish. J Mol Evol 59, 190-203 (2004) (Pubitemid 39128342)
32. Dehal, P. & Boore, J. L. Two rounds of whole genome duplication in the ancestral vertebrate. PLoS Biol 3, e314 (2005)
33. Putnam, N. H. et al. The amphioxus genome and the evolution of the chordate karyotype. Nature 453, 1064-71 (2008) (Pubitemid 351888243)
34. Maeso, I., Roy, S. W. & Irimia, M. Widespread recurrent evolution of genomic features. Genome Biol Evol 4, 486-500 (2012)
35. Woolfe, A. & Elgar, G. Comparative genomics using Fugu reveals insights into regulatory subfunctionalization. Genome Biol 8, R53 (2007)
36. Quigley, I. K., Stubbs, J. L. & Kintner, C. Specification of ion transport cells in the Xenopus larval skin. Development 138, 705-14 (2011)
37. Martinez-Morales, J. R. et al. ojoplano-mediated basal constriction is essential for optic cup morphogenesis. Development 136, 2165-75 (2009)
38. Thermes, V. et al. I-SceI meganuclease mediates highly efficient transgenesis in fish. Mech Dev 118, 91-8 (2002) (Pubitemid 35292124)
39. Naruse, K. et al. A detailed linkage map of medaka, Oryzias latipes: Comparative genomics and genome evolution. Genetics 154, 1773-1784 (2000) (Pubitemid 30211256)
40. D'Aniello, S. et al. Gene expansion and retention leads to a diverse tyrosine kinase superfamily in amphioxus. Mol Biol Evol 25, 1841-54 (2008)
41. Katoh, K., Kuma, K., Toh, H. & Miyata, T. MAFFT version 5: Improvement in accuracy of multiple sequence alignment. Nucleic Acids Res 33, 511-8 (2005) (Pubitemid 40360980)
42. Waterhouse, A. M., Procter, J. B.,Martin, D. M., Clamp, M. & Barton, G. J. Jalview Version 2-a multiple sequence alignment editor and analysis workbench. Bioinformatics 25, 1189-91 (2009)
43. Tamura, K. et al. MEGA5: Molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol Biol Evol 28, 2731-9 (2011)