HUM-MOLGEN archive: LITE: HMG October 1997 preview

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 11 October1997 ============================================ Executive Editors:- K E Davies, Oxford, UK Huntingdon F Willard, Cleveland, OH, USA ============================================ CONTENTS ============================================ NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/ and click on "Contents and Abstracts of Current Issues" ============================================ ARTICLES V. Campuzano, L. Montermini, Y. Lutz, L. Cova, C. Hindelang, S. Jiralerspong, Y. Trottier, S.J. Kish,B. Faucheux, P. Trouillas, F.J. Authier, A. Durr, J-L. Mandel, A. Vescovi, M. Pandolfo, M. Koenig Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes p. 1771 A.S. Fortin, D.A. Underhill, P. Gros Reciprocal effect of Waardenburg syndrome mutations on DNA-binding by the PAX-3 paired domain and homeodomain p. 1781 R. Stoger, T.M. Kajimura, W.T. Brown, C. D. Laird Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene, FMR1 p. 1791 A.H.M.M. Huq, R.S. Lovell, C-N. Ou, A.L. Beaudet, W.J. Craigen X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death p. 1803 J.E. Nielsen, P. Koefoed, K. Abell, L. Hasholt, H. Eiberg, K. Fenger, E. Niebuhr, S.A. Sorensen CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24 p. 1811 REPORTS U. Fischer, D. Heckel, A. Michel, M. Janka, T. Hulsebos, E. Meese Cloning of a novel transcription factor-like gene amplified in human glioma including astrocytoma grade I p. 1817 B. Struk, K.H. Neldner, V.S. Rao, P. St Jean, K. Lindpaintner Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1 p. 1823 K. Joehrer, S. Geley, E.M.C. Strasser-Wozak, R. Azziz, H.A. Wollmann, K. Schmitt, R. Kofler, P.C. White CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11beta-hydroxylase deficiency p. 1829 S. Hofmann, M. Jaksch, R. Bezold, S. Mertens, S. Aholt, A. Paprotta, K-D. Gerbitz Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease p. 1835 E. Roessler, E. Belloni, K. Gaudenz, F. Vargas, S.W. Scherer, L-C. Tsui, M. Muenke Mutations in the carboxy-terminal domain of Sonic Hedgehog cause holoprosencephaly p. 1847 T.S. Breschel, M.G. McInnis, R.L. Margolis, G. Sirugo, B. Corneliussen, S.G. Simpson, F.J. McMahon, D.F. MacKinnon, J.F. Xu, N. Pleasant, Y. Huo, R.G. Ashworth, C. Grundstrom, T. Grundstrom, K.K. Kidd, J.R. DePaulo, C.A. Ross A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1 p. 1855 M.C. Canfield, B.K. Tamarappoo, A.M. Moses, A.S. Verkman, E.J. Holtzman Identification and characterization of aquaporin- 2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response p. 1865 H.R. MacDonald, R. Wevrick The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse p. 1873 J-Q. Huang, J.M. Trasler, S. Igdoura, J. Michaud, N. Hanai, R.A. Gravel Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay- Sachs and Sandhoff diseases p.1879 C. Bouchard, L. Perusse, Y.C. Chagnon, C. Warden, D. Ricquier Linkage between markers in the vicinity of the uncoupling protein 2 gene and resting metabolic rate in humans p. 1887 N.F. Box, J.R. Wyeth, L.E. O'Gorman, N.G. Martin, R.A. Sturm Characterisation of melanocyte-stimulating hormone receptor variant alleles in twins with red hair p.1891 A-L. Delezoide, C. Lasselin-Benoist, L. Legeai-Mallet, P. Brice, V. Senee, A. Yayon, A. Munnich, M. Vekemans, J. Bonaventure Abnormal FGFR3 expression in cartilage of thanatophoric dysplasia fetuses p.1899 L. Lefebvre, S. Viville, S.C. Barton, F. Ishino, M.A. Surani Genomic structure and parent-of-origin-specific methylation of Peg1 p.1907 M. D Esposito, M R. Matarazzo, A. Ciccodicola, M. Strazzullo, R. Mazzarella, N.A. Quaderi, H. Fujiwara, M.S.H. Ko, L.B. Rowe, A. Ricco, N. Archidiacono, M. Rocchi, D. Schlessinger, M. D'Urso Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region p. 1917 N. Shani, G. Jimenez-Sanchez, G. Steel, M. Dean, D. Valle Identification of a fourth half ABC transporter in the human peroxisomal membrane p. 1925 D.J. Lehmann, C. Johnston, A.D. Smith Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer s disease p. 1933 G.J. Feldman, D.E. Ward, E. Lajeunie-Renier, D. Saavedra, N.H. Robin, V. Proud, L.J. Robb, V. Der Kaloustian, J.C. Carey, M.M. Cohen Jr, V. Cormier, A. Munnich, E.H. Zackai, A.O.M. Wilkie, R.A. Price, M. Muenke A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xq22 p. 1937 B. Wollnik, B.C. Schroeder, C. Kubisch, H.D. Esperer, P. Wieacker, T.J. Jentsch Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias p. 1943 G.A. Carlson, D.R. Borchelt, A. Dake, S. Turner, V. Danielson, J.D. Coffin, C. Echman, J. Meiners, S.P. Neilsen, S.G. Younkin, K.K. Hsiao Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice p. 1951 G. Battaglia, A. Princivalle, F. Forti, C. Lizier, M. Zevani Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system p. 1961 C. Jodice, E. Mantuano, L. Veneziano, F. Trettel, G. Sabbadini, L. Calandriello, A. Francia, M. Spadaro, F. Pierelli, F. Salvi, R.A. Ophoff, R.R. Frants, M. Frontali Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p p. 1973 A. Wild, M. Kalff-Suske, A. Vortkamp, D. Bornholdt, R. KUEnig, K-H. Grzeschnik Point mutations in human GLI3 cause Greig syndrome p. 1979 K. Schiebel, M. Winkelmann, A. Mertz, X. Xu, D.C. Page, D. Weil, C. Petit, G.A. Rappold Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females p. 1985 M.M. Maheshwar, J.P. Cheadle, A.C. Jones, J. Myring, A.E. Fryer, P.C. Harris, J.R. Sampson The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis p. 1991 =========================================== Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press. In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year. The papers listed above will appear in the October 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 19 September 1997. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Journals Subscriptions Department Oxford University Press Great Clarendon Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267907 Fax: +44 1865 267485 E-mail: jnl.orders@oup.co.uk Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder. ************************************************************************ Dr. Arthur A.B. Bergen Department of Ophthalmogenetics The Netherlands Ophthalmic Research Institute (IOI) Royal Academy of Sciences of the Netherlands (KNAW) ** Snail-mail: ** ** FAX: ** ** E-mail: ** P.O.Box 12141 (+31)206916521 A.Bergen@IOI.KNAW.NL 1100 AC Amsterdam The Netherlands ************************************************************************