A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Human Molecular Genetics

Volumn 14, Issue 8, 2005, Pages 1019-1027

  Ramser, Juliane ^a,g   Abidi, Fatima E ^b   Burckle, Celine A ^c   Lenski, Claus ^a   Toriello, Helga ^d   Wen, Gaiping ^e   Lubs, Herbert A ^b,f   Engert, Stefanie ^a   Stevenson, Roger E ^b   Meindl, Alfons ^a,g   Schwartz, Charles E ^b   Nguyen, Genevieve ^c  

^a UNIVERSITY OF MUNICH   (Germany)

^b GREENWOOD GENETIC CENTER   (United States)

^c INSERM   (France)

^d SPECTRUM HEALTH   (United States)

^e FRITZ LIPMANN INSTITUTE   (Germany)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ANGIOTENSINOGEN; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; RENIN;

ARTICLE; BLOOD PRESSURE REGULATION; BRAIN DEVELOPMENT; CATALYSIS; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DNA SEQUENCE; ELECTROLYTE BALANCE; EPILEPSY; EXON; FAMILY HISTORY; FEMALE; GENE ACTIVATION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PROCESSING; QUANTITATIVE ANALYSIS; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; WILD TYPE; X CHROMOSOME; X LINKED MENTAL RETARDATION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ENHANCER ELEMENTS (GENETICS); EPILEPSY; EXONS; FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; RENIN-ANGIOTENSIN SYSTEM; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 20244369597     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi094     Document Type: Article

References (28)

1. Dzau, V.J., Bernstein, K., Celermajer, D., Cohen, J., Dahlof, B., Deanfield, J., Diez, J., Drexler, H., Ferrari, R., van Gilst, W. et al. (2001) The relevance of tissue angiotensin-converting enzyme: manifestations in mechanistic and endpoint data. Am. J. Cardiol., 88, 1L-20L.
2. Nguyen, G., Delarue, F., Burckle, C., Bouzhir, L., Giller, T. and Sraer, J.D. (2002) Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin. J. Clin. Invest., 109, 1417-1427.
3. Nguyen, G., Delarue, F., Berrou, J., Rondeau, E. and Sraer, J.D. (1996) Specific receptor binding of renin on human mesangial cells in culture increases plasminogen activator inhibitor-1 antigen. Kidney Int., 50, 1897-1903.
4. McKinley, M.J., Albiston, A.L., Allen, A.M., Mathai, M.L., May, C.N., McAllen, R.M., Oldfield, B.J., Mendelsohn, F.A. and Chai, S.Y. (2003) The brain renin-angiotensin system: location and physiological roles. Int. J. Biochem. Cell Biol., 35, 901-918.
5. Bader, M. and Ganten, D. (2002) It's renin in the brain: transgenic animals elucidate the brain renin-angiotensin system. Circ. Res., 90, 8-10.
6. Hedera, P., Alvarado, D., Beydoun, A. and Fink, J.K. (2002) Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Ann. Neurol., 51, 45-50.
7. Vervoort, V.S., Beachem, M.A., Edwards, P.S., Ladd, S., Miller, K.E., de Mollerat, X., Clarkson, K., DuPont, B., Schwartz, C.E., Stevenson, R.E. et al. (2002) AGTR2 mutations in X-linked mental retardation. Science, 296, 2401-2403.
8. Deinum, J., Derkx, F.H., Danser, A.H. and Schalekamp, M.A. (1990) Identification and quantification of renin and prorenin in the bovine eye. Endocrinology, 126, 1673-1682.
9. Bienvenu, T., Poirier, K., van Esch, H., Hamel, B., Moraine, C., Fryns, J.P., Ropers, H.H., Beldjord, C., Yntema, H.G. and Chelly, J. (2003) Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. J. Med. Genet., 40, 357-359.
10. Caceres, J.F. and Kornblihtt, A.R. (2002) Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet., 18, 186-193,
11. Cartegni, L., Chew, S.L. and Krainer, A.R. (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet., 3, 285-298.
12. Fairbrother, W.G., Yeh, R.F., Sharp, P.A. and Burge, C.B. (2002) Predictive identification of exonic splicing enhancers in human genes. Science, 297, 1007-1013.
13. Lorson, C.L., Hahnen, E., Androphy, E.J. and Wirth, B. (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl Acad. Sci. USA, 96, 6307-6311.
14. Varani, L., Hasegawa, M., Spillantini, M.G., Smith, M.J., Murrell, J.R., Ghetti, B., Klug, A., Goedert, M. and Varani, G. (1999) Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl Acad. Sci. USA, 96, 8229-8234.
15. Amsterdam A., Nissen, R.M., Sun, Z, Swindell, E.C., Farrington, S. and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proc. Natl Acad. Sci. USA 101, 12792-12797.
16. Livnah, O., Stura, E.A., Middleton, S.A., Johnson, D.L., Jolliffe, L.K. and Wilson, I.A. (1999) Crystallographic evidence for preformed dimers of erythropoietin receptor before ligand activation. Science, 283, 987-990.
17. Jiang, G. and Hunter, T. (1999) Receptor signaling: when dimerization is not enough. Curr. Biol., 9, R568-R571.
18. Schlessinger, J. (2000) Cell signaling by receptor tyrosine kinases. Cell, 103, 211-225.
19. Moriki, T., Maruyama, H. and Maruyama, I.N. (2001) Activation of preformed EGF receptor dimers by ligand-induced rotation of the transmembrane domain. J. Mol. Biol., 311, 1011-1026.
20. Adams, J.P. and Sweatt, J.D. (2002) Molecular psychology: roles for the ERK MAP kinase cascade in memory. Annu. Rev. Pharmacol. Toxicol., 42, 135-163.
21. Bozon, B., Kelly, A., Josselyn, S.A., Silva, A.J., Davis, S. and Laroche, S. (2003) MAPK, CREB and zif268 are all required for the consolidation of recognition memory. Philos. Trans. R. Soc. Lond. B Biol. Sci., 358, 805-814.
22. Impey, S., Obrietan, K. and Storm, D.R. (1999) Making new connections: role of ERK/MAP kinase signaling in neuronal plasticity. Neuron., 23, 11-14.
23. Alarcon, J.M., Malleret, G., Touzani, K., Vronskaya, S., Ishii, S., Kandel, E.R. and Barco, A. (2004) Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron., 42, 947-959.
24. Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., Mandel, J.L., Mulley, J., Sassone-Corsi, P. and Hanauer, A. (1999) A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat. Genet., 22, 13-14.
25. Juillerat-Jeanneret, L., Celerier, J., Chapuis, B.C., Nguyen, G., Wostl, W., Maerki, H.P., Janzer, R.C., Corvol, P. and Gasc, J.M. (2004) Renin and angiotensinogen expression and functions in growth and apoptosis of human glioblastoma. Br. J. Cancer, 90, 1059-1068.
26. Abidi, F., Hall, B.D., Cadle, R.G., Feldman, G.L., Lubs, H.A., Ouzts, L.V., Arena, J.F., Stevenson, R.E. and Schwartz, C.E. (1999) X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21. Am. J. Med. Genet., 85 223-229.
27. Cottingham, R.W., Idury, R.M. and Schaffer, A.A. (1993) Faster sequential genetic linkage computations. Am. J. Hum. Genet., 53, 252-263.
28. Haliassos, A., Chomel, J.C., Tesson, L., Baudis, M., Kruh, J., Kaplan, J.C. and Kitzis, A. (1989) Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res. 17, 3606.