Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 887-897

  Van Der Maarel, Silvère M ^a,b   Scholten, Inge H J M ^a   Huber, Irene ^a   Philippe, Christophe ^c   Suijkerbuijk, Ron F ^a   Gilgenkrantz, Simone ^d   Kere, Juha ^e,f   Cremers, Frans P M ^a   Ropers, Hans Hilger ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d CENTRE HOSPITALIER   (France)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BRAIN; CASE REPORT; CHROMOSOME TRANSLOCATION; CHROMOSOME XQ; CONTROLLED STUDY; FEMALE; GENE DISRUPTION; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; MENTAL DEFICIENCY; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SEQUENCE TAGGED SITE; TISSUE DISTRIBUTION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN CHEMISTRY; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CLONING, MOLECULAR; DNA, COMPLEMENTARY; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE EXPRESSION; GENES; HUMANS; HYPOPIGMENTATION; INFANT; LINKAGE (GENETICS); MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PROTEINS; RNA, MESSENGER; SCOLIOSIS; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0030016056     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.887     Document Type: Article

References (48)

1. Herbst, D.S. and Miller, J.R. (1980) Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am. J. Med. Genet., 7, 461-469.
2. Opitz, J.M. (1986) Editorial comment: on the gates of hell and a most unusual gene. Am. J. Med. Genet., 23, 1-10.
3. Opitz, J.M. (1987) Erratum. Am. J. Med. Genet., 26, 37.
4. Kerr, B., Turner, G., Mulley, J., Gedeon, A. and Partington, M. (1991) Non-specific X-linked mental retardation. J. Med. Genet., 28, 378-382.
5. Glass, I.A. (1991) X linked mental retardation. J. Med. Genet., 28, 361-371.
6. Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F., Eussen, B.E., van Ommen, G.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A. and Warren, S.T. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a fragile X breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
7. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V., Temple, K. and Kenwrick, S. (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the LI gene. Nature Genet., 7, 402-407.
8. Vits, L., van Camp, G., Coucke, P., Fransen, E., De Boulle, K., Reyniers, E., Korn, B., Poustka, A., Wilson, G., Schrander-Stumpel, C., Winter, R.M., Schwartz, C. and Willems, P.J. (1994) MASA syndrome is due to mutations in the neural cell adhesion gene LICAM. Nature Genet., 7, 408-413.
9. 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.
10. Neri, G., Chiurazzi, P., Arena, J.F. and Lubs, H.A. (1994) XLMR genes: update 1994. Am. J. Med. Genet., 51, 542-549.
11. Ropers, H., van der Maarel, S., Knoers, N., Kremer, H., Smits, A., Hamel, B., Cremers, F.P.M., Gilgenkrantz, S., Philippe, C., Monaco, T., Ishikawa-Brush, Y., Smeets, D. and Mariman, E. (1994) 'Unspecific' X-linked mental retardation: clinical, genetic and molecular studies. Am. J. Hum. Genet., 55, A49.
12. Collins, F.S. (1995) Positional cloning moves from perditional to traditional. Nature Genet., 9, 347-350.
13. Warburton, D. (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis, clinical significance and distribution of breakpoints. Am. J. Hum. Genet., 49, 995-1013.
14. Schmidt, M. and Du Sart, D. (1992) Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am. J. Med. Genet., 42, 161-169.
15. Teboul, M., Mujica, P., Chery, M., Leotard, B. and Gilgenkrantz, S. (1989) Translocations X-autosomes équilibrées et retard mental. Contribution à la cartographie des retards mentaux liés à L'X (à l'exclusion de L'X-FRA). J. Génét. Hum., 37, 179-195.
16. Abeliovich, D., Dagan, J., Kimchi-Sarfaty, C. and Zlotogora, J. (1995) Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females. Am. J. Med. Genet., 55, 359-362.
17. Philippe, C., Cremers, F.P.M., Chery, M., Bach, I., Abbadi, N., Ropers, H. and Gilgenkrantz, S. (1993) Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Genomics, 17, 147-152.
18. Corcos, I.A., Lafrenière, R.G., Begy, C.R., Loch-Caruso, R., Willard, H.F. and Glover, T.W. (1992) Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics, 13, 479-480.
19. Raimondi, E., Gaudi, S., Moralli, D., De Carli, L., Malcovati, M., Simonic, T. and Tenchini, M.L. (1992) Assignment of the human connexin 32 gene (GJB1) to band Xq13. Cytogenet. Cell Genet., 60, 210-211.
20. 1 mutants, tsBN462 and ts13, of the BHK cell line. EMBO J., 7, 1683-1687.
21. Barker, D.F., Dietz-Band, J.N., Donaldson, C.W., Andersen, W.L., Turco, A.E., Pole, A.R., Willard, H.F. and Vincent, A. (1989) Further isolation, characterization and physical localization of X-chromosome RFLP markers, comparing VNTR-directed and random isolation strategies. Cytogenet. Cell Genet., 51, 958.
22. Lafrenière, R.G., Brown, C.J., Powers, V.E., Carrel, L., Davies, K.E., Barker, D.F., and Willard, H.F. (1991) Physical mapping of 60 DNA markers in the p21.1→q21.3 region of the human X chromosome. Genomics, 11, 352-363.
23. Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
24. Devereux, J., Haeberli, P. and Smithies, O. (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res., 12, 387-395.
25. Kyte, J.P. and Doolittle, R.F. (1982) A simple method for displaying the hydropathic character of a protein. J. Mol. Biol., 157, 105-132.
26. Agulnik, A.I., Mitchell, M.J., Mattei, M-G., Borsani, G., Avner, P.A., Lerner, J.L., and Bishop, C.E. (1994) A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum. Mol. Genet., 3, 879-884.
27. Tommerup, N. (1993) Mendelian cytogenetics. Chromosome rearrangements associated with Mendelian disorders. J. Med. Genet., 30, 713-727.
28. Kozak, M. (1987) An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res., 15, 8125-8148.
29. Cross, S.H., Charlton, J.A., Nan, X. and Bird, A.P. (1994) Purification of CpG islands using a methylated DNA binding column. Nature Genet., 6, 236-244.
30. Gardiner-Garden, M. and Frommer, M. (1987) CpG islands in vertebrate genomes. J. Mol. Biol., 196, 261-282.
31. Larsen, F., Gundersen, G., Lopez, R. and Prydz, H. (1992) CpG islands as gene markers in the human genome. Genomics, 13, 1095-1107.
32. Cross, S.H. and Bird, A.P. (1995) CpG islands and genes. Curr. Opin. Genet. Dev., 5, 309-314.
33. Mattei, M.G., Mattei, J.F., Ayme, S. and Giraud, F. (1982) X-autosome translocations: cytogenetic characteristics and their consequences. Hum. Genet., 61, 295-309.
34. Bühler, E.M. (1983) Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann. Genet., 26, 133-137.
35. Brown, S., Gersen, S., Anyane-Yeboa, K. and Warburton, D. (1993) Preliminary definition of a 'critical region' of chromosome 13 inq32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med. Genet., 45, 52-59.
36. - syndrome: the molecular definition of a critical deletion region in band 13q32. Am. J. Hum. Genet., 57, 859-866.
37. Washington, S.S., Warburton, D. and Chakravarti, A. (1995) Report of the second international workshop on human chromosome 13 mapping 1994. Cytogenet. Cell Genet., 70, 1-22.
38. Puffenberger, E.G., Hosoda, K., Washington, S.S., Nakao, K., deWit, D., Yanagisawa, M. and Chakravarti, A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell, 79, 1257-1266.
39. Brown, C.J., Hendrich, B.D., Rupert, J.L., Lafreniere, R.G., Xing, Y., Lawrence, J., and Willard, H.F. (1992) The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
40. Thomas, I.T., Frias, J.L., Cantu, E.S., Later, C.Z., Flannery, D.B. and Graham, J.G., Jr. (1989) Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am. J. Hum. Genet., 45, 193-205.
41. Suijkerbuijk, R.F., van de Veen, A.Y., van Echten, J., Buys, C.H.C.M., de Jong, B., Oosterhuis, J.W., Warburton, D.A., Cassiman, J.J., Schonk, D. and Geurts van Kessel, A. (1991) Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization. Am. J. Hum. Genet., 48, 269-273.
42. Sinke, R.J., Suijkerbuijk, R.F., Herbergs, J., Janssen, H., Cassiman, J.J. and Geurts van Kessel, A. (1992) Generation of a panel of somatic cell hybrids containing fragments of human chromosome 12p by X-ray irradiation and cell fusion. Genomics, 12, 206-213.
43. Suijkerbuijk, R.F., Looijenga, L., de Jong, B., Oosterhuis, J.W., Cassiman, J.J. and Geurts van Kessel, A. (1992) Verification of isochromosome 12p and identification of other chromosome 12 aberrations in gonadal and extragonadal human germ cell tumors by bicolor double fluorescence in situ hybridization. Cancer Genet. Cytogenetic., 6, 8-16.
44. Green, E.D. and Olson, M.V. (1990) Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl Acad. Sci. USA, 87, 1213-1217.
45. Huber, I., Bitner-Glindzicz, M., de Kok, Y.J.M., van der Maarel, S.M., Ishikawa-Brush, Y., Monaco, A.P., Robinson, D., Malcolm, S., Pembrey, M.E., Brunner, H.G., Cremers, F.P.M. and Ropers, H. (1994) X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. Hum. Mol. Genet., 3, 1151-1154.
46. Blonden, L.A.J., den Dunnen, J.T., van Paassen, H.M.B., Wapenaar, M.C., Grootscholten, P.M., Ginjaar, H.B., Bakker, E., Pearson, P.L. and van Ommen, G.J.B. (1989) High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res., 17, 5611-5621.
47. Maniatis T, Fritsch EF, Sambrook J. (1982) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.
48. Kalscheuer, V.M., Mariman, E.C., Schepens, M.T., Rehder, H. and Ropers, H. (1993) The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nature Genet., 5, 74-78.