HUM-MOLGEN archive: LITE: Human Molecular Genetics 05:11, Nov 1996

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 11 November 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington 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" ============================================= ARTICLE M H Jones, R A Furlong, H Burkin, I J Chalmers, G M Brown, O Khwaja and N A Affara The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 P. 1695 REPORTS Y Yang, S E Haecker, Q Su and J M Wilson Immunology of gene therapy with adenoviral vectors in mouse skeletal muscle P. 1703 M-C Simmler, D B Cunningham, P Clerc, T Vermat, B Caudron, C Cruaud, A Pawlak, C Szpirer, J Weissenbach, J-M Claverie and P Avner A 94 kb genomic sequence 3 to the murine Xist gene reveals an AT rich region containing a new testis specific gene Tsx P. 1713 D W Parsons, P E McAndrew, U R Monani, J R Mendell, A H M Burghes and T W Prior An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene P.1727 R J Wenstrup, G T Langland, M C Willing, V N D'Souza , and W G Cole A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proalpha1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I) P. 1733 B Levinson, R Conant, R Schnur, S Das, S Packman and J Gitschier A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome P. 1737 R-J Hu, M P Lee, L A Johnson and A P Feinberg A novel human homologue of yeast nucleosome assembly protein, 65kb centromeric to the p57KIP2 gene is biallelically expressed in fetal and adult tissues P. 1743 M Speek, F Barry and W L Miller Alternate promoters and alternate splicing of human tenascin-X, a gene with 5 and 3 ends buried in other genes P. 1749 G Cooper, W Amos, D Hoffman and D C Rubinsztein Network analysis of human Y microsatellite haplotypes P. 1759 M A Jobling, V Samara, A Pandya, N Fretwell, B Bernasconi, R J Mitchell, T Gerelsaikhan, B Dashnyam, A Sajantila, P J Salo, Y Nakahori, C M Disteche, K Thangaraj, L Singh, M H Crawford and C Tyler-Smith Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males P. 1767 J E Parrish, A E Scheuerle, R A Lewis, M L Levy and D L Nelson Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti Type 2 P. 1777 P J Byrd, P R Cooper, T Stankovic, H S Kullar, G D J Watts, P J Robinson and A M R Taylor A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies P. 1785 C L OKeefe, P E Warburton and A G Matera Oligonucleotide probes for alpha satellite DNA variants can distinguish homologous chromosomes by FISH P. 1793 F Schnieders, T Dork, J Arnemann, T Vogel, M Werner and J Schmidtke Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues P. 1801 P Thomas, Y Ye and E Lightner Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy P. 1809 A Nestorowicz, B A Wilson, K P Schoor, H Inoue, B Glaser, H Landau, C A Stanley, P S Thornton, J P Clement IV, J Bryan, L Aguilar-Bryan and M A Permutt Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews P. 1813 C A May, A J Jeffreys and J A L Armour Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309) P. 1823 K Fu, R Hartlen, T Johns, A Genge, G Karpati and E A Shoubridge A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy P. 1835 E M McNally, D Duggan, J R Gorospe, C G Bonneman, M Fanin, E Pegoraro, H G W Lidov, S Noguchi, E Ozawa, R S Finkel, R P Cruse, C Angelini, L M Kunkel and E P Hoffman Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy P. 1841 =========================================== 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 November 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 October 1996. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Richard Gedye Oxford University Press Great Clarendon 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. 03/09/96 November issue page 4 ************************************************************************ 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 ************************************************************************