ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1899-1907

  Picketts, David J ^a   Higgs, Douglas R ^a   Bachoo, Satvinder ^a   Blake, Derek J ^b   Quarrell, Oliver W J ^c   Gibbons, Richard J ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c Centre for Human Genetics   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COMPLEMENTARY DNA; HELICASE;

ALPHA THALASSEMIA; AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; GENE ISOLATION; GENE MUTATION; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FAMILY; RNA SPLICING; X CHROMOSOME LINKAGE;

EID: 0029827343     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1899     Document Type: Article

References (44)

1. Gibbons, R.J., Picketts, D.J., Villard, L. and Higgs, D.R. (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell, 80, 837-845.
2. Bork, P. and Koonin, E.V. (1993) An expanding family of helicases within the 'DEAD/H' superfamily. Nucleic Acids Res., 21, 751-752.
3. Gorbalenya, A.E. and Koonin, E.V. (1993) Helicases: amino acid sequence comparisons and structure-function relationships. Curr. Opin. Struct. Biol., 3, 419-429.
4. Carlson, M. and Laurent, B.C. (1994) The SNF/SWI family of global transcriptional activators. Curr. Opin. Cell Biol., 6, 396-402.
5. Matson, S.W., Bean, D.W. and George, J.W. (1994) DNA helicases: enzymes with essential roles in all aspects of DNA metabolism. BioEssays, 16, 13-22.
6. Eisen, J. A., Sweder, K.S. and Hanawalt, P.C. (1995) Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions. Nucleic Acids Res., 23, 2715-2723.
7. Villard, L., Gecz, J., Mattéi, J.F., Fontes, M., Saugier-Veber, P., Munnich, A. and Lyonnet, S. (1996) XNP mutation in a large family with Juberg-Marsidi syndrome. Nature Genet., 12, 359-360.
8. Ion, A., Telvi, L., Chaussain, J.L., Galacteros, F., Valayer, J., Fellous, M. and McElreavey, K. (1996) A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. Am. J Hum. Genet., 58, 1185-1191.
9. Villard, L., Toutain, A., Lossi, A.-M., Gecz, J., Houdayer, C., Moraine, C. and Fontes, M. (1996) Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia. Am. J. Hum. Genet., 58, 499-505.
10. Stayton, C.L., Dabovic, B., Gulisano, M., Gecz, J., Broccoli, V., Giovanazzi, S., Bossolasco, M., Monaco, L., Rastan, S., Boncinelli, E., Bianchi, M.E. and Consalez, G.G. (1994) Cloning and characterisation of a new human Xq13 gene, encoding a putative helicase. Hum. Mol. Genet., 3, 1957-1964.
11. Lehrach, H., Drmanac, R., Hoheisel, J., Larin, Z., Lennon, G., Monaco, A.P., Nizetic, D., Zehetner, G. and Poutska, A. (1990) In Davies, K.E. and Tilghman, S.M. (eds), Genome Analysis Volume I: Genetic and Physical Mapping. Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
12. Shivdasani, R.A. and Orkin, S.H. (1996) The transcriptional control of hematopoiesis. Blood, 87, 4025-4039.
13. Gibbons, R.J., Brueton, L., Buckle, V.J., Burn, J., Clayton-Smith, J., Davison, B.C.C., Gardner, R.J.M., Homfray, T., Kearney, L., Kingston, H.M., Newbury-Ecob, R., Porteous, M.E.P., Wilkie, A.O.M. and Higgs, D.R. (1995) The clinical and hematological features of the X-linked α thalassemia/mental retardation syndrome (ATR-X). Am. J. Med. Genet., 55, 288-299.
14. Nakai, K. and Sakamoto, H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene, 141, 171-177.
15. Kanaar, R., Troelstra, C., Swagemakers, S.M.A., Essers, J., Smit, B., Franssen, J.H., Pastink, A., Bezzubova, O.Y., Buerstedde, J.M., Clever, B., Heyer, W.D. and Hoeijmakers, J.H.J. (1996) Human and mouse homologs of the Saccharomyces cerevisiae KAD54 DNA repair gene: evidence for functional conservation. Curr. Biol., 6, 828-838.
16. Ptashne, M. (1988) How eukaryotic transcriptional activators work. Nature, 335, 683-689.
17. Courey, A.J. and Tjian, R. (1988) Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif. Cell, 55, 887-898.
18. Hoey, T., Weinzieri, R.O., Gill, G., Chen, J.L., Dynlacht, B.D. and Tjian, R. (1993) Molecular cloning and functional analysis of Drosophila TAF110 reveal properties expected of coactivators. Cell, 72, 247-260.
19. Craddock, C.F., Vyas, P., Sharpe, J.A., Ayyub, H., Wood, W.G. and Higgs, D.R. (1995) Contrasting effects of a and β globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J., 14, 1718-1726.
20. Tsukiyama, T. and Wu, C. (1995) Purification and properties of an ATP-dependent nucleosome remodeling factor. Cell, 83, 1011-1020.
21. Hirschhorn, J.N., Brown, S.A., Clark, C.D. and Winston, F. (1992) Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure. Genes Dev., 6, 2288-2298.
22. Peterson, C.L. and Tamkun, J.W. (1995) The SWI-SNF complex: a chromatin remodelling machine? Trends Biochem. Sci., 20, 143-146.
23. Peterson, C.L. and Herskowitz, I. (1992) Characterisation of the yeast SWI1, SWI2 and SWI3 genes, which encode a global activator of transcription. Cell, 68, 573-583.
24. Wilson, C.J., Chao, D.M., Imbalzano, A.N., Schnitzler, G.R., Kingston, R.E. and Young, R.A. (1996) DNA polymerase II holoenzyme contains SWI/SNF regulators involved in chromatin remodeling. Cell, 84, 235-244.
25. McPherson, E., Clemens, M., Gibbons, R.J. and Higgs, D.R. (1995) X-linked alpha thalassemia/mental retardation (ATR-X) syndrome. A new kindred with severe genital anomalies and mild hematologic expression. Am. J. Med. Genet., 55, 302-306.
26. Lefort, G., Taib, J., Toutain, A., Houdayer, C., Moraine, C., Humeau, C. and Sarda, P. (1993) X-linked α-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family. Ann. Génét., 36, 200-205.
27. Higgs, D.R., Vickers, M.A., Wilkie, A.O.M., Pretorius, I.-M., Jarman, A.P. and Weatherall, D.J. (1989) A review of the molecular genetics of the human α-globin gene cluster. Blood, 73, 1081-1104.
28. Blake, D.J., Nawrotzki, R., Peters, M.F., Froehner, S.C. and Davies, K.E. (1996) Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. J. Biol. Chem., 271, 7802-7810.
29. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
30. Frohman, M.A., Dush, M.K. and Martin, G.R. (1988) Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc. Natl Acad. Sci. USA, 85, 8998-9002.
31. Henikoff, S. (1984) Unidirectional digestion with exonuclease III creates targeted breakpoints for DNA sequencing. Gene, 28, 351-359.
32. Brown, C.J., Flenniken, A.M., Williams, B.R.G. and Willard, H.F. (1990) X chromosome inactivation of the human TIMP gene. Nucleic Acids Res., 18, 4191-4195.
33. Fogh, J. and Tremse, G. (1975) In Fogh, J. (eds), Human Tumour Cells in Vitro. Plenum Publishing, New York.
34. Lozzio, C.B. and Lozzio, B.B. (1975) Human chronic myelogeneous leukaemic cell-line with positive Philadelphia chromosome. Blood, 45, 321-334.
35. Gey, G.O., Coffman, W.O. and Kubicek, M.T. (1952) Tissue culture studies of the proliferative capacity of cervical carcinoma and normal epithelium. Cancer Res., 12, 264-265.
36. Martin, P. and Papyannopoulou, T. (1982) HEL cells: a new human erythroleukemia cell line with spontaneous and induced globin expression. Science, 216, 1233-1235.
37. Hughes, J., Ward, C.J., Peral, B., Aspinwall, R., Clark, K., San Millán, J.L., Gamble, V. and Harris, P.C. (1995) The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet., 10, 151-160.
38. Larin, Z., Monaco, A.P. and Lehrach, H. (1991) Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl Acad. Sci. USA, 88, 4123-4127.
39. Higuchi, R.G. and Ochman, H. (1989) Production of single-stranded DNA templates by exonuclease digestion following the polymerase chain reaction. Nucleic Acids Res., 17, 5865.
40. Genetics Computer Group (1994) Program Manual for the Wisconsin Package. Madison, WI 53711.
41. Wilkie, A.O.M., Zeitlin, H.C., Lindenbaum, R.H., Buckle, V.J., Fischel-Ghodsian, N., Chui, D.H.K., Gardner-Medwin, D., MacGillivray, M.H. Weatherall, D.J. and Higgs, D.R. (1990) Clinical features and molecular analysis of the α thalassaemia/mental retardation syndromes. II. Cases without detectable abnormality of the a globin complex. Am. J. Hum. Genet., 46, 1127-1140.
42. Ogle, R., De Souza, M., Cunningham, C., Kerr, B. and Sillence, D. (1994) X-linked mental retardation with non-deletional alpha-thalassaemia (ATR-X). Further delineation of the phenotype. J. Med. Genet., 31, 245-247.
43. Mattei, J.F., Collignon, P., Ayme, S. and Giraud, F. (1983) X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report. Clin. Genet., 23, 70-74.
44. Reardon, W., Gibbons, R.J., Winter, R.M. and Baraitser, M. (1995) Sex reversal in the α thalassemia/mental retardation (ATR-X) syndrome: a further case. Am. J. Med. Genet., 55, 285-287.