HUM-MOLGEN archive: LITE: HMG Vol 7: 4 preview

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 7, No 4 April 1998 ============================================ 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" ============================================ A sea urchin gene encoding dystrophin-related proteins pp. 581-588 J. Wang, A. Pansky, J.M. Venuti, D. Yaffe and U. Nudel Dystrophins in vertebrates and invertebrates pp. 589-595 R.G. Roberts and M. Bobrow IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes D. Dag, D. Frank, Q. Naifeng, D. O'Keefe,R.J.Vosatka, C.P Walsh and B. Tycko Metaphase fragility of the human RNU1 and RNU2 loci is induced by actinomycin D through a p53-dependent pathway A. Yu, A.D. Bailey and A.M. Weiner Identification of four new mutations in the short-chain acyl -CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C(T, is present at an unexpectedly high frequency in the general population, as was the case for 625G(A, together conferring susceptibility to ethylmalonic aciduria N. Gregersen, V.S. Winter, M.J. Corydon, T.J. Corydon, P. Rinaldo, A. Ribes, G. Martinez, M.J, Bennett, C. Vianey-Saban, A. Bhala, D.E. Hale, W. Lehnert, S. Kmoch, M. Roig, E. Riudor, H. Eiberg, B.S. Andresen, P. Bross, L.A. Bolund and S. Kclvraa ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expressed domain with a Goosecoid-like gene E.A. Lindsay, E.L. Harvey, P.J. Scambler and A. Baldini The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP D. Smedley, R. Hamoudi, J. Clark, W. Warren, M. Abdul-Rauf, G. Somers, D. Venter, K. Fagan, C. Cooper and J. Shipley Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1) M.A. Jobling, N. Bouzekri and P.G. Taylor Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization N. Bouzetri, P.G. Taylor, M.F. Hammer and M.A. Jobling Non-disfunction of chromosome 18 M. Bugge, A. Collins, M.B. Petersen, J. Fisher, C. Brandt, J.M. Hertz, Tranebjeeg, C de Lozier-Blanchet, P. Nicolaides, K. Brcndum-Neilsen, N. Morton and M. Mikkelsen Localization of motor-related proteins and associated complexes to active, but not inactive, centromeres N.E. Faulkner, B. Vig, C.J. Echeverri, L. Wordeman and R.B. Vallee Specific interaction between the XNP/ATR-gene product and the SET domain of the human EZH2 protein C. Cardoso, S. Timsit, L. Villard, M. Khrestchatisky, M. Fontes and L. Colleaux Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3 S.R.F. Twigg, H.D. Burns, M. Oldridge, J.K. Heath and A.O.M. Wilkie Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy D.E. Merry, Y. Kobayashi, C.K. Bailey, A.A. Taye and K.H. Fischbeck Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2 C.A Hodgkinson, A. Nakayama, H. Li, L-B. Swenson, K. Opdecamp, J.H. Asher, H. Arnheter and T. Glaser Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms B. Klamt, A. Koziell, F. Poulat, P. Wieacter, P. Scrambler, P. Berta and M. Gessler Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and a map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities S.K. Mahadevaiah, T. Odorisio, D.J. Elliott, A. Rattigan, M. Szot, S.H. Laval, L.L. Washburn, J.R. McCarrey, B.M. Cattanach, R. Lovell-Badge and P.S. Burgoyne A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis J.E. Mickle, M. Macek jr, S.B. Fulmer- Smentek, M.M. Egar, E. Schwiebert, W. Guggino, R. Moss, G.R. Cutting The UTX gene escapes X-inactivation in mice and humans A. Greenfield, L. Carrel, D. Pennisi, C. Philippe, N. Quaderi, P. Siggers, K. Steiner, P.P.L. Tam, A.P. Monaco, H.F. Willard and P. Koopman Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism X-Y. Wen, D.M. Bryce and M.L. Breitman Sequencing of the (-synuclein gene in large series of cases of familial Parkinson's disease fails to reveal any further mutations J.R. Vaughan, M.J. Farrer, Z.K. Wszolek, T. Gasser, A. Durr, Y. Agid, V. Bonifati, G. DeMichele, G. Volpe, S. Lincoln, M. Breteler, G. Meco, A. Brice, C.D. Marsden, J. Hardy and N.W. Wood and The European Consortium on Genetic Susceptability in Parkinson's Disease (GSPD) Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction M.M. Le Beau, F.V. Rassool, M.E.Neilly, R.Espinosa III, T.W. Glover, D.I. Smith and T.W. McKeithan ============================================ 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 yea The papers listed above will appear in the April 1998 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 March 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. :-r.