A potential molecular target for morphological defects of fetal alcohol syndrome: Kir2.1

Current Opinion in Genetics and Development

Volumn 23, Issue 3, 2013, Pages 324-329

  Bates, Emily A ^a  

^a Brigham Young University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; RETINOIC ACID; SONIC HEDGEHOG PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

APOPTOSIS; BINDING KINETICS; CAUSAL ATTRIBUTION; CHANNEL GATING; CHEMICAL STRUCTURE; CLINICAL FEATURE; CRYSTAL STRUCTURE; ELECTROPHYSIOLOGY; EVIDENCE BASED MEDICINE; FETAL ALCOHOL SYNDROME; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENE MUTATION; GENE TARGETING; GENETIC RISK; GENETIC VARIABILITY; HUMAN; KIR2.1 GENE; MOLECULAR PATHOLOGY; NONHUMAN; PRENATAL EXPOSURE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVIEW; SIGNAL TRANSDUCTION;

ALCOHOLS; CLEFT LIP; CLEFT PALATE; FEMALE; FETAL ALCOHOL SPECTRUM DISORDERS; HUMANS; MOLECULAR TARGETED THERAPY; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PREGNANCY;

EID: 84879880203     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2013.05.001     Document Type: Review

References (56)

1. May P.A., Fiorentino D., Coriale G., Kalberg W.O., Hoyme H.E., Aragon A.S., Buckley D., Stellavato C., Gossage J.P., Robinson L.K., et al. Prevalence of children with severe fetal alcohol spectrum disorders in communities near Rome, Italy: new estimated rates are higher than previous estimates. Int J Environ Res Public Health 2011, 8:2331-2351.
2. May P.A., Gossage J.P., Kalberg W.O., Robinson L.K., Buckley D., Manning M., Hoyme H.E. Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies. Dev Disabil Res Rev 2009, 15:176-192.
3. Sampson P.D., Streissguth A.P., Bookstein F.L., Little R.E., Clarren S.K., Dehaene P., Hanson J.W., Graham J.M. Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder. Teratology 1997, 56:317-326.
4. Sant'Anna L.B., Tosello D.O. Fetal alcohol syndrome and developing craniofacial and dental structures--a review. Orthod Craniofac Res 2006, 9:172-185.
5. Fetal Alcohol Syndrome Diagnosis, Epidemiology, Prevention, and Treatment 1996, National Academy Press. K.R.H.C. Stratton, F.C. Battaglia (Eds.).
6. May P.A., Gossage J.P., Smith M., Tabachnick B.G., Robinson L.K., Manning M., Cecanti M., Jones K.L., Khaole N., Buckley D., et al. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders. J Dev Behav Pediatr 2010, 31:304-316.
7. Rostand A., Kaminski M., Lelong N., Dehaene P., Delestret I., Klein-Bertrand C., Querleu D., Crepin G. Alcohol use in pregnancy, craniofacial features, and fetal growth. J Epidemiol Community Health 1990, 44:302-306.
8. Franco B., Meroni G., Parenti G., Levilliers J., Bernard L., Gebbia M., Cox L., Maroteaux P., Sheffield L., Rappold G.A., et al. A cluster of sulfatase genes on xp22.3: mutations in chondrodysplasia punctata (cdpx) and implications for warfarin embryopathy. Cell 1995, 81:15-25.
9. Naidoo S., Chikte U., Laubscher R., Lombard C. Fetal alcohol syndrome: anthropometric and oral health status. J Contemp Dent Pract 2005, 6:101-115.
10. Spiegel P.G., Pekman W.M., Rich B.H., Versteeg C.N., Nelson V., Dudnikov M. The orthopedic aspects of the fetal alcohol syndrome. Clin Orthop Relat Res 1979, 139:58-63.
11. Sulik K.K., Johnston M.C., Webb M.A. Fetal alcohol syndrome: embryogenesis in a mouse model. Science 1981, 214:936-938.
12. May P.A., Gossage J.P. Estimating the prevalence of fetal alcohol syndrome. A summary. Alcohol Res Health 2001, 25:159-167.
13. Levy M., Koren G. Clinical toxicology of the neonate. Semin Perinatol 1992, 16:63-75.
14. Egeland G.M., Perham-Hester K.A., Gessner B.D., Ingle D., Berner J.E., Middaugh J.P. Fetal alcohol syndrome in Alaska, 1977 through 1992: an administrative prevalence derived from multiple data sources. Am J Public Health 1998, 88:781-786.
15. de Cornulier M., de Lacour F., Avet-Loiseau H., Passuti N., Branger B., Lemoine P., Picherot G. Vertebral involvement and fetal alcohol syndrome. Pediatrie 1991, 46:685-689.
16. Church M.W., Eldis F., Blakley B.W., Bawle E.V. Hearing, language, speech, vestibular, and dentofacial disorders in fetal alcohol syndrome. Alcohol Clin Exp Res 1997, 21:227-237.
17. + channel is required for patterning. Development 2012, 139:3653-3664.
18. Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., Donaldson M.R., Iannaccone S.T., Brunt E., Barohn R., Clark J., et al. Mutations in kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.
19. Yoon G., Oberoi S., Tristani-Firouzi M., Etheridge S.P., Quitania L., Kramer J.H., Miller B.L., Fu Y.H., Ptacek L.J. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A 2006, 140:312-321.
20. Yoon G., Quitania L., Kramer J.H., Fu Y.H., Miller B.L., Ptacek L.J. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology 2006, 66:1703-1710.
21. +-mediated vasodilation. Circ Res 2000, 87:160-166.
22. + channel kir2.2. Nature 2011, 477:495-498.
23. Cardoso R.A., Brozowski S.J., Chavez-Noriega L.E., Harpold M., Valenzuela C.F., Harris R.A. Effects of ethanol on recombinant human neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes. J Pharmacol Exp Ther 1999, 289:774-780.
24. Lovinger D.M., White G., Weight F.F. Ethanol inhibits NMDA-activated ion current in hippocampal neurons. Science 1989, 243:1721-1724.
25. Mihic S.J., Ye Q., Wick M.J., Koltchine V.V., Krasowski M.D., Finn S.E., Mascia M.P., Valenzuela C.F., Hanson K.K., Greenblatt E.P., Harris R.A., et al. Sites of alcohol and volatile anaesthetic action on GABA(A) and glycine receptors. Nature 1997, 389:385-389.
26. Valenzuela C.F., Cardoso R.A. Acute effects of ethanol on kainate receptors with different subunit compositions. J Pharmacol Exp Ther 1999, 288:1199-1206.
27. Zhou Q., Lovinger D.M. Pharmacologic characteristics of potentiation of 5-HT3 receptors by alcohols and diethyl ether in NCB-20 neuroblastoma cells. J Pharmacol Exp Ther 1996, 278:732-740.
28. Lipinski R.J., Hammond P., O'Leary-Moore S.K., Ament J.J., Pecevich S.J., Jiang Y., Budin F., Parnell S.E., Suttie M., Godin E.A., Everson J.L., et al. Ethanol-induced face-brain dysmorphology patterns are correlative and exposure-stage dependent. PLoS ONE 2012, 7:e43067.
29. Karschin C., Karschin A. Ontogeny of gene expression of Kir channel subunits in the rat. Mol Cell Neurosci 1997, 10:131-148.
30. Wekselman K., Spiering K., Hetteberg C., Kenner C., Flandermeyer A. Fetal alcohol syndrome from infancy through childhood: a review of the literature. J Pediatr Nurs 1995, 10:296-303.
31. Levin M.E., Holt J.R. The function and molecular identity of inward rectifier channels in vestibular hair cells of the mouse inner ear. J Neurophysiol 2012, 108:175-186.
32. + channel, in spiral ganglion and cochlear hair cells of mouse inner ear. Dev Neurosci 2008, 30:374-388.
33. Pai V.P., Aw S., Shomrat T., Lemire J.M., Levin M. Transmembrane voltage potential controls embryonic eye patterning in Xenopus laevis. Development 2012, 139:313-323.
34. Aryal P., Dvir H., Choe S., Slesinger P.A. A discrete alcohol pocket involved in Girk channel activation. Nat Neurosci 2009, 12:988-995.
35. Pegan S., Arrabit C., Slesinger P.A., Choe S. Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1. Biochemistry 2006, 45:8599-8606.
36. Howard R.J., Slesinger P.A., Davies D.L., Das J., Trudell J.R., Harris R.A. Alcohol-binding sites in distinct brain proteins: the quest for atomic level resolution. Alcohol Clin Exp Res 2011, 35:1561-1573.
37. + channels. Nat Neurosci 1999, 2:1091-1097.
38. Powrozek T.A., Miller M.W. Ethanol affects transforming growth factor beta1-initiated signals: cross-talking pathways in the developing rat cerebral wall. J Neurosci 2009, 29:9521-9533.
39. Siegenthaler J.A., Miller M.W. Transforming growth factor beta 1 promotes cell cycle exit through the cyclin-dependent kinase inhibitor p21 in the developing cerebral cortex. J Neurosci 2005, 25:8627-8636.
40. Siegenthaler J.A., Miller M.W. Ethanol disrupts cell cycle regulation in developing rat cortex interaction with transforming growth factor beta1. J Neurochem 2005, 95:902-912.
41. Siegenthaler J.A., Miller M.W. Transforming growth factor beta1 modulates cell migration in rat cortex: effects of ethanol. Cereb Cortex 2004, 14:791-802.
42. Marrs J.A., Clendenon S.G., Ratcliffe D.R., Fielding S.M., Liu Q., Bosron W.F. Zebrafish fetal alcohol syndrome model: effects of ethanol are rescued by retinoic acid supplement. Alcohol 2010, 44:707-715.
43. Ahlgren S.C., Thakur V., Bronner-Fraser M. Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure. Proc Natl Acad Sci U S A 2002, 99:10476-10481.
44. Sasaki Y., O'Kane S., Dixon J., Dixon M.J., Ferguson M.W. Temporal and spatial expression of pax9 and sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Arch Oral Biol 2007, 52:260-267.
45. Cartwright M.M., Smith S.M. Stage-dependent effects of ethanol on cranial neural crest cell development: partial basis for the phenotypic variations observed in fetal alcohol syndrome. Alcohol Clin Exp Res 1995, 19:1454-1462.
46. Chen S.Y., Periasamy A., Yang B., Herman B., Jacobson K., Sulik K.K. Differential sensitivity of mouse neural crest cells to ethanol-induced toxicity. Alcohol 2000, 20:75-81.
47. Rovasio R.A., Battiato N.L. Role of early migratory neural crest cells in developmental anomalies induced by ethanol. Int J Dev Biol 1995, 39:421-422.
48. Deltour L., Ang H.L., Duester G. Ethanol inhibition of retinoic acid synthesis as a potential mechanism for fetal alcohol syndrome. FASEB J 1996, 10:1050-1057.
49. Yelin R., Schyr R.B., Kot H., Zins S., Frumkin A., Pillemer G., Fainsod A. Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels. Dev Biol 2005, 279:193-204.
50. Kumar A., Singh C.K., DiPette D.D., Singh U.S. Ethanol impairs activation of retinoic acid receptors in cerebellar granule cells in a rodent model of fetal alcohol spectrum disorders. Alcohol Clin Exp Res 2010, 34:928-937.
51. Arcangeli A., Rosati B., Cherubini A., Crociani O., Fontana L., Passani B., Wanke E., Olivotto M. Long-term exposure to retinoic acid induces the expression of IRK1 channels in HERG channel-endowed neuroblastoma cells. Biochem Biophys Res Commun 1998, 244:706-711.
52. MacFarlane S.N., Sontheimer H. Changes in ion channel expression accompany cell cycle progression of spinal cord astrocytes. Glia 2000, 30:39-48.
53. Ito Y., Yeo J.Y., Chytil A., Han J., Bringas P., Nakajima A., Shuler C.F., Moses H.L., Chai Y. Conditional inactivation of TGFBR2 in cranial neural crest causes cleft palate and calvaria defects. Development 2003, 130:5269-5280.
54. Nawshad A., LaGamba D., Hay E.D. Transforming growth factor beta (TGFbeta) signalling in palatal growth, apoptosis and epithelial mesenchymal transformation (EMT). Arch Oral Biol 2004, 49:675-689.
55. Sanford L.P., Ormsby I., Gittenberger-de Groot A.C., Sariola H., Friedman R., Boivin G.P., Cardell E.L., Doetschman T. Tgfbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. Development 1997, 124:2659-2670.
56. French R.L., Heberlein U. Glycogen synthase kinase-3/shaggy mediates ethanol-induced excitotoxic cell death of drosophila olfactory neurons. Proc Natl Acad Sci U S A 2009, 106:20924-20929.