Genomic organization of the human Gα14 and Gαq genes and mutation analysis in chorea-acanthocytosis (CHAC)

Genomics

Volumn 57, Issue 1, 1999, Pages 84-93

  Rubio, Justin P ^a   Levy, Elaine R ^a   Dobson Stone, Carol ^a   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOCYTOSIS; ARTICLE; CHOREA; CHROMOSOME 9Q; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC ORGANIZATION; HUMAN; NERVE DEGENERATION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; YEAST ARTIFICIAL CHROMOSOME;

BACTERIA (MICROORGANISMS);

EID: 0033119478     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5758     Document Type: Article

References (50)

1. Albertsen H. M., Abderrahim H., Cann H. M., Dausset J., Le Paslier D., Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA. 87:1990;4256-4260.
2. Alonso M. E., Teixeira F., Jimenez G., Escobar A. Chorea-acanthocytosis: Report of a family and neuropathological study of two cases. Can. J. Neurol. Sci. 16:1989;426-431.
3. Ausubel F. M., Brent R., Kingston R. E., Moore D. D., Seidman J. G., Smith J. A., Struhl K. Current Protocols in Molecular Biology. 1997;Wiley, New York.
4. Bassen F. A., Kornzweig A. L. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 5:1950;381-387.
5. Bird T. D., Cederbaum S., Valey R. W., Stahl W. L. Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study. Ann. Neurol. 3:1978;253-258.
6. Breathnach R., Benoist C., O'Hare K., Gannon F., Chambon P. Ovalbumin gene: Evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries. Proc. Natl. Acad. Sci. USA. 75:1978;4853-4857.
7. Campuzano V., Montermini L., Molto M. D., Pianese L., Cossee M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
8. Davignon I., Barnard M., Gavrilova O., Sweet K., Wilkie T. M. Gene structure of murine Gna11 and Gna15: Tandemly duplicated Gq class G protein alpha subunit genes. Genomics. 31:1996;359-366.
9. Deloukas P., Schuler G. D., Gyapay G., Beasley E. M., Soderlund C., Rodriguez-Tome P., Hui L. A physical map of 30,000 human genes. Science. 282:1998;744-746.
10. Dib C., Faure S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154.
11. Dong Q., Shenker A., Way J., Haddad B. R., Lin K., Hughes M. R., McBride O. W., Spiegel A. M., Battey J. Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene. Genomics. 30:1995;470-475.
12. Gabbeta J., Yang X., Kowalska M. A., Sun L., Dhanasekaran N., Rao A. K. Platelet signal transduction defect with G alpha subunit dysfunction and diminished G alpha q in a patient with abnormal platelet responses. Proc. Natl. Acad. Sci. USA. 94:1997;8750-8755.
13. Hamilton B. A., Smith D. J., Mueller K. L., Kerrebrock A. W., Bronson R. T., van Berkel V., Daly M. J., Kruglyak L., Reeve M. P., Nemhauser J. L., Hawkins T. L., Rubin E. M., Lander E. S. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: Positional complementation cloning and extragenic suppression. Neuron. 18:1997;711-722.
14. Hardie R. J. Acanthocytosis and neurological impairment - A review. Quant. J. Med. 71:1989;291-306.
15. Hardie R. J., Pullon H. W. H., Harding A. E., Owen J. S., Pires M., Daniels G. L., Imai Y., Misra V. P., King R. H. M. Neuroacanthocytosis: A clinical, hematological and pathological study of 19 cases. Brain. 114:1991;13-50.
16. Ho M., Chelly J., Carter N., Danek A., Crocker P., Monaco A. P. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell. 77:1994;869-880.
17. Johnson G. J., Leis L.A., Dunlop P.C. Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences. Biochem. J. 318:1996;1023-1031.
18. Knight S. J., Flannery A.V., Hirst M.C., Campbell L., Christodoulou Z., Phelps S.R., Pointon J. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell. 74:1993;127-134.
19. Landis C. A., Masters S. B., Spada A., Pace A. M., Bourne H. R., Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. 340:1989;692-696.
20. Levine I. M., Estes J. W., Looney J. M. Hereditary neurological disease with acanthocytosis. A new syndrome. Arch. Neurol. 19:1968;403-409.
21. Malandrini A., Fabrizi G. M., Palmeri S., Ciacci G., Salvadori C., Berti G., Bucalossi A., Federico A., Guazzi G. C. Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report: A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta. Neuropathol. 86:1993;651-658.
22. Milligan G. Regional distribution and quantitative measurement of the phosphoinositidase C-linked guanine nucleotide binding proteins G11 alpha and Gq alpha in rat brain. J. Neurochem. 61:1993;845-851.
23. Monk S., Sakuntabhai A., Carter S. A., Bryce S. D., Cox R., Harrington L., Levy. Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. Am. J. Hum. Genet. 62:1998;890-903.
24. Myers C. A., Schmidhauser C., Mellentin Michelotti J., Fragoso G., Roskelley C. D., Casperson G., Mossi R., Pujuguet P., Hager G., Bissel M. J. Characterization of BCE-1, a transcriptional enhancer regulated by prolactin and extracellular matrix and modulated by the state of histone acetylation. Mol. Cell. Biol. 18:1998;2184-2195.
25. Nakamura F., Ogata K., Shiozaki K., Kameyama K., Ohara K., Haga T., Nukada T. Identification of two novel GTP-binding protein alpha-subunits that lack apparent ADP-ribosylation sites for pertussis toxin. J. Biol. Chem. 266:1991;12676-12681.
26. Nakamura F., Kato M., Kameyama K., Nukada T., Haga T., Kato H., Takenawa T., Kikkawa U. Characterization of Gq family G proteins GL1 alpha (G14 alpha), GL2 alpha (G11 alpha), and Gq alpha expressed in the baculovirus-insect cell system. J. Biol. Chem. 270:1995;6246-6253.
27. Offermanns S., Toombs C. F., Hu Y. H., Simon M. I. Defective platelet activation in G alpha(q)-deficient mice. Nature. 389:1997a;183-186.
28. Offermanns S., Hashimoto K., Watanabe M., Sun W., Kurihara H., Thompson R. F., Inoue Y., Kano M., Simon M. I. Impaired motor coordination and persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking G alpha q. Proc. Natl. Acad. Sci. USA. 94:1997b;14089-14094.
29. Olivieri O., De Franceschi L., Bordin L., Manfredi M., Miraglia del Giudice E., Perrotta S., De Vivo M., Guarini P., Corrocher R. Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis. Haematologica. 82:1997;648-653.
30. Patten J. L., Johns D. R., Valle D., Eil C., Gruppuso P. A., Steele G., Smallwood P. M., Levine M. A. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary. N. Engl. J. Med. 322:1990;1412-1419.
31. Peppard R. F., Lu C. S., Chu N. S., Teal P., Martin W. R. W., Calne D. B. Parkinsonism with neuroacanthocytosis. Can. J. Neurol. Sci. 17:1990;298-301.
32. Popova J. S., Garrison J. C., Rhee S. G., Rasenick M. M. Tubulin, Gq, and phosphatidylinositol 4,5-bisphosphate interact to regulate phospholipase C β-1 signaling. J. Biol. Chem. 272:1997;6760-6765.
33. Rae J., Newburger P. E., Dinauer M. C., Noack D., Hopkins P. J., Kuruto R., Curnutte J. T. X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am. J. Hum. Genet. 62:1998;1320-1331.
34. Redman C. M., Marsh W. L. The Kell blood group system and the McLeod phenotype. Semin. Hematol. 30:1993;209-218.
35. Reed P. W., Davies J. L., Copeman J. B., Bennett S. T., Palmer S. M., Pritchard L. E., Gough S. C., Kawaguchi Y., Cordell H. J., Balfour K. M. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat. Genet. 7:1994;390-395.
36. Rubio J. P., Danek A., Stone C., Chalmers R., Wood N., Verellen C., Ferrer X., Malandrini A., Fabrizi G. M., Manfredi M., Vance J., Pericak Vance M., Brown R., Rudolf G., Picard F., Alonso E., Brin M., Nemeth A. H., Farrall M., Monaco A. P. Chorea-acanthocytosis: Genetic linkage to chromosome 9q21. Am. J. Hum. Genet. 61:1997;899-908.
37. Schuler G. D., Boguski M.S., Hudson T.J., Hui L., Ma J., Castle A. B., Wu X. A gene map of the human genome. Science. 274:1996;540-546.
38. Schwartz D. C., Cantor C. R. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell. 37:1984;67-75.
39. Senger G., Jones T. A., Fidlerova H., Sanseau P., Trowsdale J., Duff M., Sheer D. Released chromatin: Linearized DNA for high resolution fluorescence in situ hybridization. Hum. Mol. Genet. 3:1994;1275-1280.
40. Shapira H., Amit I., Revach M., Oron Y., Battey J. F. G alpha 14 and G alpha q mediate the response to trypsin inXenopus. J. Biol. Chem. 273:1998;19431-19436.
41. Simon M. I., Strathmann M. P., Gautam N. Diversity of G proteins in signal transduction. Science. 252:1991;802-808.
42. Smrcka A. V., Hepler J. R., Brown K. O., Sternweis P. C. Regulation of polyphosphoinositide-specific phospholipase C activity by purified Gq. Science. 251:1991;804-807.
43. Strathmann M., Simon M. I. G protein diversity: A distinct class of alpha subunits is present in vertebrates and invertebrates. Proc. Natl. Acad. Sci. USA. 87:1990;9113-9117.
44. Taylor S. J., Chae H. Z., Rhee S. G., Exton J. H. Activation of the beta 1 isozyme of phospholipase C by alpha subunits of the Gq class of G proteins. Nature. 350:1991;516-518.
45. Weinstein L. S., Gejman P. V., Friedman E., Kadowaki T., Collins R. M., Gershon E. S., Spiegel A. M. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. USA. 87:1990;8287-8290.
46. Weinstein L. S., Shenker A., Gejman P. V., Merino M. J., Friedman E., Spiegel A. M. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N. Engl. J. Med. 325:1991;1688-1695.
47. Wilkie T. M., Scherle P. A., Strathmann M. P., Slepak V. Z., Simon M. I. Characterization of G-protein alpha subunits in the Gq class: Expression in murine tissues and in stromal and hematopoietic cell lines. Proc. Natl. Acad. Sci. USA. 88:1991;10049-10053.
48. Wilkie T. M., Gilbert D. J., Olsen A. S., Chen X. N., Amatruda T. T., Korenberg J. R., Trask B. J., de Jong P., Reed R. R., Simon M. I. Evolution of the mammalian G protein alpha subunit multigene family. Nat. Genet. 1:1992;85-91.
49. Woon P. Y., Osoegawa K., Kaisaki P. J., Zhao B., Catanese J. J., Gauguier D., Cox R., Levy E. R., Lathrop G. M., Monaco A. P., de Jong P.J. Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library. Genomics. 50:1998;306-316.
50. Xu X., Croy J. T., Zeng W., Zhao L., Davignon I., Popova S., Yu K., Jiang H., Offermanns S., Muallem S., Wilkie T. M. Promiscuous coupling of receptors to Gq class alpha subunits and effector proteins in pancreatic and submandibular gland cells. J. Biol. Chem. 273:1998;27275-27279.