HUM-MOLGEN archive: LITE: Human Molecular Genetics 5:4 (preview issue april 1996)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 4 April 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== ARTICLES Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region P. 423 Germana Meroni, Brunella Franco, Nicoletta Archidiacono, Silvia Messali, Grazia Andolfi, Mariano Rocchi and Andrea Ballabio Predominance of null mutations in ataxia-telangiectasia P. 433 Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik, Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, N. G. J. Jaspers, Richard A. Gatti, Gilbert Lenoir, Martin F. Lavin, Kouichi Tatsumi, Rolf D. Wegner. Yosef Shiloh and Anat Bar-Shira REPORTS Transgenic mice carrying an Xist-containing YAC P. 441 Edith Heard, Chantal Kress, Fabien Mongelard, Beatrice Courtier, Claire Rougeulle, Alan Ashworth, Claire Vourch, Charles Babinet and Philip Avner Xist expression from an Xist YAC transgene carried on the mouse Y chromosome P.451 S. Matsuura, V. Episkopou and S. D. M. Brown Cloning and characterization of human very-long-chain acyl- CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of 9 different mutations within the VLCAD gene P.461 Brage Storstein Andresen, Peter Bross, Christine Vianey- Saban, Priscille Divry, Marie-Therese Zabot, Charles R. Roe, Mohamed A. Nada, Annette Byskov, Torben A. Kruse, Soren Neve, Karsten Kristiansen, Inga Knudsen, Morten Juhl Corydon and Niels Gregersen Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? P.473 David R. Marchington, Joanna Poulton, Anneke Sellar, and Ian J. Holt Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain P.481 Jonathan D. Wood, John C. MacMillan, Peter S. Harper, Pedro R. Lowenstein and A. Lesley Jones Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane P.489 Helene M. Sadoulet-Puccio, Tejvir S. Khurana, Jonathan B. Cohen and Louis M. Kunkel Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? P.497 Arti Pandya, Xia-Juan Xia, Barbara L. Landa, Kathleen S. Arnos, Jamie Israel, Joyce Lloyd, Anthony L. James, Scott R. Diehl, Susan H. Blanton and Walter E. Nance Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T, the site of the recurrent substitution mutation in exon 31 P.503 Joseph D. Andrews, Debora N. Mancini, Shiva M. Singh and David I. Rodenhiser Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type 1 (TD1) P.509 F. Rousseau, V. El Ghouzzi, A. L. Delezoide, L. Legeai- Mallet, M. Le Merrer, A. Munnich and J. Bonaventure A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads P.513 Howard J. Cooke, Muriel Lee, Shona Kerr and Matteo Ruggiu Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient P.517 Yongming Sun, Robert D. Nicholls, Merlin G. Butler, Shinji Saitoh, Bryan E. Hainline and Catherine G. Palmer A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands P.525 Arne Nystuen, Paul J. Benke, Joy Merren, Edwin M. Stone and Val C. Sheffield A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders P.533 Deborah A. Swanson, Carol L. Freund, Lynda Ploder, Roderick R.. McInnes and David Valle A stable nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1) P.539 Belen Peral, Albert C. M. Ong, Jose L. San Millan, Vicki Gamble, Lesley Rees and Peter C. Harris LINKAGE REPORTS The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q P.543 Zoha Kibar, Vazken M. Der Kaloustian, Bernard Brais, Valerie Hani, F. Clarke Fraser and Guy A. Rouleau The hereditary pancreatitis gene maps to long arm of chromosome 7 P.549 Louis Le Bodic, Jean-Denis Bignon, Odile Raguenes, Bernard Mercier, Thierry Georgelin, Mathieu Schnee, Francois Soulard, Katia Gagne, Francoise Bonneville, Jean-Yves Muller, Lucien Bachner and Claude Ferec Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35 P.555 Laurent Parmentier, Hakima Lakhdar, Claudine Blanchet-Bardon, Sylvie Marchand, Louis Dubertret and Jean Weissenbach =========================================== 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 April 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 March 1996. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Richard Gedye Oxford University Press Walton Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267785 Fax: +44 1865 267782 E-Mail: gedyer@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.