Of splice and men: What does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

Brain Research

Volumn 983, Issue 1-2, 2003, Pages 209-214

  Mezey, Éva ^a   Parmalee, Alissa ^a   Szalayova, Ildiko ^a   Gill, Sandra P ^b,c   Cuajungco, Math P ^b,c   Leyne, Maire ^b,c   Slaugenhaupt, Susan A ^b,c   Brownstein, Michael J ^d  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Familial dysautonomia; IKAP; mRNA; Pathogenesis; Rat

Indexed keywords

MESSENGER RNA; PROTEIN; PROTEIN IKAP; RNA POLYMERASE II; UNCLASSIFIED DRUG;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL FUNCTION; CENTRAL NERVOUS SYSTEM; CHROMOSOME ABERRATION; CONTROLLED STUDY; DYSAUTONOMIA; EMBRYO; FETUS; GENE MUTATION; GENETIC CODE; GENETIC STRAIN; GENOTYPE; HISTOCHEMISTRY; IN SITU HYBRIDIZATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN LOCALIZATION; RAT; RNA SPLICING; TISSUE SPECIFICITY; TRANSCRIPTION INITIATION;

EID: 0041659223     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-8993(03)03090-7     Document Type: Article

References (34)

1. Anderson S.L., Coli R., Daly I.W., Kichula E.A., Rork M.J., Volpi S.A., Ekstein J., Rubin B.Y. Familial dysautonomia is caused by mutations of the IKAP gene. Am. J. Hum. Genet. 68:2001;753-758.
2. Andreassi C., Jarecki J., Zhou J., Coovert D.D., Monani U.R., Chen X., Whitney M., Pollok B., Zhang M., Androphy E., Burghes A.H. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum. Mol. Genet. 10:2001;2841-2849.
3. Axelrod F.B. Familial dysautonomia and other congenital and sensory autonomic neuropathies. Blake I.B. Cell and Molecular Biology of Neuronal Development. 1984;331-340 Plenum, New York.
4. Axelrod F.B. Familial Dysautonomia. Biaggioni I. Disorders of the Autonomic Nervous System. 1995;217-231 Harwood Academic Publishers, Luxembourg.
5. Axelrod F.B., Nachtigal R., Dancis J. Familial dysautonomia: diagnosis, pathogenesis and management. Adv. Pediatr. 21:1974;75-96.
6. Axelrod F.B., Pearson J. Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am. J. Dis. Child. 138:1984;947-954.
7. Axelrod F.B., Porges R.F., Sein M.E. Neonatal recognition of familial dysautonomia. J. Pediatr. 110:1987;946-948.
8. Brunt P.W., McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine (Baltimore). 49:1970;343-374.
9. Chang J.G., Hsieh-Li H.M., Jong Y.J., Wang N.M., Tsai C.H., Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc. Natl. Acad. Sci. USA. 98:2001;9808-9813.
10. Cohen L., Henzel W.J., Baeuerle P.A. IKAP is a scaffold protein of the IκB kinase complex. Nature. 395:1998;292-296.
11. Collum R.G., Brutsaert S., Lee G., Schindler C. A Stat3-interacting protein (StIP1) regulates cytokine signal transduction. Proc. Natl. Acad. Sci. USA. 97:2000;10120-10125.
12. Cuajungco M.P., Leyne M., Mull J., Gill S.P., Gusella J.F., Slaugenhaupt S.A. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 20:2001;579-586.
13. Graveley B.R. Sorting out the complexity of SR protein functions. RNA. 6:2000;1197-1211.
14. Hawkes N.A., Otero G., Winkler G.S., Marshall N., Dahmus M.E., Krappmann D., Scheidereit C., Thomas C.L., Schiavo G., Erdjument-Bromage H., Tempst P., Svejstrup J.Q. Purification and characterization of the human elongator complex. J. Biol. Chem. 277:2002;3047-3052.
15. Hofmann Y., Lorson C.L., Stamm S., Androphy E.J., Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl. Acad. Sci. USA. 97:2000;9618-9623.
16. Holmberg C., Katz S., Lerdrup M., Herdegen T., Jaattela M., Aronheim A., Kallunki T. A novel specific role for I κ B kinase complex-associated protein in cytosolic stress signaling. J. Biol. Chem. 277:2002;31918-31928.
17. Jiang Z.H., Zhang W.J., Rao Y., Wu J.Y. Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors. Proc. Natl. Acad. Sci. USA. 95:1998;9155-9160.
18. Krappmann D., Hatada E.N., Tegethoff S., Li J., Klippel A., Giese K., Baeuerle P.A., Scheidereit C. The I κ B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component. J. Biol. Chem. 275:2000;29779-29787.
19. Krogan N.J., Greenblatt J.F. Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae. Mol. Cell. Biol. 21:2001;8203-8212.
20. Li Y., Takagi Y., Jiang Y., Tokunaga M., Erdjument-Bromage H., Tempst P., Kornberg R.D. A multiprotein complex that interacts with RNA polymerase II elongator. J. Biol. Chem. 276:2001;29628-29631.
21. Mahloudji M., Brunt P.W., McKusick V.A. Clinical neurological aspects of familial dysautonomia. J. Neurol. Sci. 11:1970;383-395.
22. Mayeda A., Helfman D.M., Krainer A.R. Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF. Mol. Cell. Biol. 13:1993;2993-3001.
23. Moller L.B., Tumer Z., Lund C., Petersen C., Cole T., Hanusch R., Seidel J., Jensen L.R., Horn N. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am. J. Hum. Genet. 66:2000;1211-1220.
24. Nissim-Rafinia M., Chiba-Falek O., Sharon G., Boss A., Kerem B. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum. Mol. Genet. 9:2000;1771-1778.
25. Nissim-Rafinia M., Kerem B. Splicing regulation as a potential genetic modifier. Trends Genet. 18:2002;123-127.
26. Otero G., Fellows J., Li Y., de Bizemont T., Dirac A.M., Gustafsson C.M., Erdjument-Bromage H., Tempst P., Svejstrup J.Q. Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation. Mol. Cell. 3:1999;109-118.
27. Pearson J. Familial dysautonomia (a brief review). J. Auton. Nerv. Syst. 1:1979;119-126.
28. Pearson J., Pytel B. Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia. J. Neurol. Sci. 39:1978;123-130.
29. Pearson J., Pytel B.A. Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J. Neurol. Sci. 39:1978;47-59.
30. Pearson J., Pytel B.A., Grover-Johnson N., Axelrod F., Dancis J. Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J. Neurol. Sci. 35:1978;77-92.
31. Pokholok D.K., Hannett N.M., Young R.A. Exchange of RNA polymerase II initiation and elongation factors during gene expression in vivo. Mol. Cell. 9:2002;799-809.
32. Riley C.M., Day R.L., Greeley D., Langford W.S. Central autonomic dysfunction with defective lacrimation. Pediatrics. 3:1949;468-477.
33. Slaugenhaupt S.A., Blumenfeld A., Gill S.P., Leyne M., Mull J., Cuajungco M.P., Liebert C.B., Chadwick B., Idelson M., Reznik L., Robbins C., Makalowska I., Brownstein M., Krappmann D., Scheidereit C., Maayan C., Axelrod F.B., Gusella J.F. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Genet. 68:2001;598-605.
34. Winkler G.S., Petrakis T.G., Ethelberg S., Tokunaga M., Erdjument-Bromage H., Tempst P., Svejstrup J.Q. RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes. J. Biol. Chem. 276:2001;32743-32749.