HUM-MOLGEN archive: LITE: Human Molecular Genetics -- October 1996 issue

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 10 October 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" ============================================= ARTICLES A A J Migchielsen, M L Breuer, M S Hershfield and D Valerio Full genetic rescue of adenosine-deaminase-deficient mice through introduction of the human gene P. 1523 A J Gladwin, J Dixon, S K Loftus, S Edwards, J J Wasmuth, R C M Hennekam and M J Dixon Treacher Collins syndrome may result from insertions, deletions or splicing mutations which introduce a termination codon into the gene P. 1533 L Pulkkinen, F J D Smith, H Shimizu, S Murata, H Yaoita, H Hachisuka, T Nishikawa, W H I McLean and J Uitto Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy P. 1539 W Wuyts, W Van Hul, J Wauters, M Nemtsova, E Reyniers, E Van Hul, K De Boulle, B B A de Vries, J Hendrickx, I Herrygers, P Bossuyt, W Balemans, E Fransen, L Vits, P Coucke, N J Nowack, T B Shows, L Mallet, A M W van den Ouweland, J McGaughran, D J J Halley and P J Willems Positional cloning of a gene involved in hereditary multiple exostoses P. 1547 REPORTS C N Tennyson, G Y Dally, P N Ray and R G Worton Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures P. 1559 S T Winokur, U Bengtsson, J C Vargas, J J Wasmuth and M R Altherr The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region P.1567 T Iwashita, H Murakami, N Asai and M Takahashi Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain P.1577 W Liu, C Qian, K Comeau, T Brenn, H Furthmayr and U Francke Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome P.1581 S L Bressler, M D Gray, B L Sopher, Q Hu, M G Hearn, D G Pham, M B Dinulos, K-I Fukuchi, S S Sisodia, M A Miller, C M Disteche and G M Martin cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta-amyloid precursor protein and its homologues with the mouse Fe65 protein P.1589 H J Klamut, L O Bosnoyan-Collins, R G Worton, P N Ray and H L Davis Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene P.1599 S J Engle, D E Womer, P M Davies, G Boivin, A Sahota, H A Simmonds, P J Stambrook and J A Tischfield HPRT-APRT deficient mice are not a model for Lesch- Nyhan syndrome P. 1607 F Pagani, R Garcia, R Pariyarath, C Stuani, B Gridelli, G Paone and F E Baralle Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease P.1611 M B Theophilos, D W Cox and J F B Mercer The toxic milk mouse is a murine model of Wilson disease P. 1619 F J Cameron, R M Hageman, C Cooke-Yarborough, C Kwok, L L Goodwin, D O Sillence and A H Sinclair A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal P. 1625 P R Fain, E N Kort, C Yousry, M R James and M Litt A high resolution CEPH crossover mapping panel and integrated map of chromosome 11 P. 1631 J-L Berge-Lefranc, P Jay, A Massacrier, P Cau, M G Mattei, S Bauer, C Marsollier, P Berta and M Fontes Characterization of the human jumonji gene P. 1637 M M Lanterman, J R Dickinson and D J Danner Functional analysis in Saccharomyces cerevisiae of naturally occurring amino acid substitutions in human dihydrolipoamide dehydrogenase P. 1643 R Allikmets, B Gerrard, A Hutchinson and M Dean Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the Expressed Sequence Tags database P. 1649 R J Pomponio, V Narasimhan, T R Reynolds, G A Buck, L F Povirk and B Wolf Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure P. 1657 P Valverde, E Healy, S Sikkink, F Haldane, A J Thody, A Carothers, I J Jackson and J L Rees The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma P. 1663 LINKAGE REPORTS A M Shearman, T J Hudson, J M Andresen, X Wu, R L Sohn, F Haluska, D E Housman and J S Weiss The gene for Schnyder's crystalline corneal dystrophy maps to chromosome 1p34.1-p36 P. 1667 B Leube, D Rudnicki, T Ratzlaff, K R Kessler, R Benecke and G Auburger Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution P. 1673 J D Ohmen, H-Y Yang, K K Yamamoto, H-Y Zhao, Y Ma, L G Bentley, Z Huang, S Gerwehr, S Pressman, C McElree, S Targan, J I Rotter and N Fischel-Ghodsian Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis P. 1679 E LeGuern, A Guilbot, M Kessali, N Ravise, J Tassin, T Maisonobe, D Grid and A Brice Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33 P. 1685 S Wayne, V M Der Kaloustian, M Schloss, R Polomeno, D A Scott, J F Hejtmancik, V C Sheffield and R J H Smith Localization of the Usher Syndrome type ID gene (Ush1D) to chromosome 10 P. 1689 =========================================== 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 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 September 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.