HUM-MOLGEN archive: LITE: TOC HGM 6:08

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 8 August 1997 ============================================ 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 T W Depinet, J L Zackowski, W C Earnshaw, S Kaffe, G S Sekhon, R Stallard, B A Sullivan, G H Vance, D L V Dyke, H F Willard, A B Zinn and S Schwartz Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA P. 1195 D D Coovert, T T Le, P E McAndrew, J Strasswimmer, T O Crawford, J R Mendell, S E Coulson, E J Androphy, T W Prior and A H M Burghes The survival motor neuron protein in spinal muscular atrophy P. 1205 REPORTS K E Orii, T Aoyama, K Wakui, Y Fukushima, H Miyajima, S Yamaguchi, T Orii, N Kondo and T Hashimoto Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADAB) gene in patients with trifunctional protein deficiency P. 1215 K B Avraham, T Hasson, T Sobe, B Balsara, J R Testa, A B Skvorak, C C Morton, N G Copeland and N A Jenkins Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice P. 1225 S E Lloyd, W Gunther, S H S Pearce, A Thomson, M L Bianchi, M Bosio, I W Craig, S E Fisher, S J Scheinman, O Wrong, T J Jentsch and R V Thakker Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders P. 1233 Y Ishikawa-Brush, J F Powell, P Bolton, A P Miller, F Francis, H F Willard, H Lehrach and A P Monaco Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene P. 1241 I J Holt, D R Dunbar and H T Jacobs Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background P. 1251 L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, F Cavalcanti, L Pianese, L Iodice, G Farina, A Monticelli, M Turano, A Filla, G De Michele and S Cocozza The Friedreich ataxia GAA triplet repeat: premutation and normal alleles P. 1261 P Suvanto, K Wartiovaara, M Lindahl, U Arumae, M Moshnyakov, N Horelli-Kuitunen, M S Airaksinen, A Palotie, H Sariola and M Saarma Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha P. 1267 M P Marron, L J Raffel, H-J Garchon, C O Jacob, M Serrano-Rios, M T Martinez Larrad, W-P Teng, Y Park, Z-X Zhang, D R Goldstein, Y-W Tao, G Beaurain, J-F Bach, H-S Huang, D-F Luo, A Zeidler, J I Rotter, M C K Yang, T Modilevsky, N K Maclaren and J-X She Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups P. 1275 Z Matsuyama, H Kawakami, H Maruyama, Y Izumi, O Komure, F Udaka, M Kameyama, T Nishio, Y Kuroda, M Nishimura and S Nakamura Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6) P. 1283 O Riess, L Schols, H Bottger, D Nolte, A M M Vieira-Saecker, C Schimming, F Kreuz, M Macek Jr, A Krebsova, M Macek Sen, T Klockgether, C Zuhlke and F A Laccone SCA6 is caused by moderate CAG expansion in the alpha1A voltage- dependent calcium channel gene P. 1289 S A Fabb, A F Davies, I Correa, A P Kelly, C Mackie, J Trowsdale and J Ragoussis Generation of novel human MHC class II mutant B-cell lines by integrating YAC DNA into a cell line homozygously deleted for the MHC class II region P. 1295 J Flint, G P Bates, K Clark, A Dorman, D Willingham, B A Roe, G Micklem, D R Higgs and E J Louis Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains P. 1305 F Tamanini, R Willemsen, L van Unen, C Bontekoe, H Galjaard, B A Oostra and A T Hoogeveen Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis P. 1315 P F Ray, R M L Winston and A H Handyside XIST expression from the maternal X chromosome in human male preimplantation embryos at the blastocyst stage P. 1323 F V Elmslie, M Rees, M P Williamson, M Kerr, M J Kjeldsen, K An Pang, A Sundqvist, M L Friis, D Chadwick, A Richens, A Covanis, M Santos, A Arzimanoglou, C P Panayiotopoulos, D Curtis, W P Whitehouse, and R M Gardiner Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q P. 1329 R S Houlston, I P M Tomlinson, D Ford, S Seal, A M Marossy, A Ferguson, G K T Holmes, K B Hosie, P D Howdle, D P Jewell, A Godkin, G D Kerr, P Kumar, R F A Logan, A H G Love, S Johnston, M N Marsh, S Mitton, D O'Donoghue, A Roberts, J A Walker-Smith and M F Stratton Linkage analysis of candidate regions for coeliac disease genes P. 1335 J W Ellison, Z Wardak, M F Young, P Gehron Robey, M Laig- Webster and W Chiong PHOG, a candidate gene for involvement in the short stature of Turner syndrome P. 1341 R P Nair, T Henseler, S Jenich, P Stuart, C K Bichakjian, W Lenk, E Westphal, S-W Guo, E Christophers, J J Voorhees and J T Elder Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20 p) by genome-wide scan P. 1349 D Fernandez-Reyes, A G Craig, S A Kyes, N Peshu, R W Snow, A R Berendt, K Marsh and C I Newbold A high frequency African coding polymorphism in the N-terminal domain if ICAM-1 predisposing to cerebral malaria in Kenya P. 1357 R M Brown, L J Otero and G K Brown Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene P. 1361 C S P Rose, P Patel, W Reardon, S Malcolm and R M Winter The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases P. 1369 M H Shen, J Yang, M-L Loupart, A Smith and W Brown Human mini-chromosomes in mouse embryonal stem cells P. 1375 M R Nelen, W C G van Staveren, E A J Peeters, M B Hassel, R J Gorlin, H Hamm, C F Lindboe, J-P Fryns, R H Sijmons, D Geoffrey Woods, E C M Mariman, G W Padberg and H Kremer Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease P. 1383 ============================================ 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 August 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 July 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 ************************************************************************