HUM-MOLGEN archive: LITE: Human Molecular Genetics 5:5 (may 1996)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No. 5 May 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA C Huxley, E Passage, A Manson, G Putzu, D Figarella-Branger, J F Pellissier and M Fontes P. 563 Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development M A Crackower, S W Scherer, J M Rommens, C-C Hui, P Poorkaj, S Soder, J M Cobben, L Hudgins, J P Evans and L-C Tsui P. 571 Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35 J C T van Deutekom, R J L F Lemmers, P K Grewal, M van Geel, S Romberg, H G Dauwerse, T J Wright, G W Padberg, M H Hofker, J E Hewitt and R R Frants P. 581 Gene transfer into the mouse retina mediate by an adeno- associated viral vector R R Ali, M B Reichel, A J Thrasher, R J Levinsky, C Kinnon, N Kanuga, D M Hunt and S S Bhattacharya P. 591 Isolation of genes amplified in human cancers by microdissection mediated by cDNA capture E Gracia, U Fischer, A ElKahloun, J M Trent, E Meese and P S Meltzer P. 595 Mutations in the Ca2+ sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism J Baron, K K Winer, J A Yanovski, A W Cunningham, L Laue, D Zimmerman and G B Cutler, Jr P. 601 cDNA cloning of a human homologue of the C. elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat R L Margolis, O C Stine, M G McInnis, N G Ranen, D C Rubinsztein, J Leggo, L V Jones Brando, A S Kidwai, S J Loev, T S Breschel, C Callahan, S G Simpson, J R DePaulo, F J McMahon, S Jain, E S Paykel, C Walsh, L E DeLisi, T J Crow, E F Torrey, R G Ashworth, J P Macke, J Nathans and C A Ross P. 607 Isolation of a new clathrin heavy chain gene with muscle- specific expression from the region commonly deleted in velo-cardio-facial syndrome H Sirotkin, B Morrow, R DasGupta, R Goldberg, S R Patanjali, G Shi, L Cannizzaro, R Shprintzen, S M Weissman and R Kucherlapati P. 617 Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11 D Kedra, M Peyrard, I Fransson, J E Collins, I Dunham, B A Roe and J P Dumanski P. 625 Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes S Demczuk, G Thomas and A Aurias P. 633 Expression of the von Hippel-Landau disease tumour suppression gene during human embryogenesis F M Richards, P N Schofield, S Fleming and E R Maher P. 639 Crigler-Najjer syndrome type II is inherited both as a dominant and as a recessive trait O Koiwai, S Aono, Y Adachi, T Kamisako, Y Yasui, M Nishizawa and H Sato P. 645 X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase J Hendrickx, E Dams, P Coucke, P Lee, J Fernandes and P J Willems P. 649 Mutation hotspots in the PHKA2 gene in X-linked liver glycogenesis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2) B Burwinkel, Y S Shin, H D Bakker, J Deutsch, M J Lozano, I Maire and M W Kilimann P. 653 Long-range sequence analysis in Xq28: 13 known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci E Y Chen, M Zollo, R Mazzarella, A Ciccodicola, C- n Chen, L Zuo, C Heiner, F Burough, M Repetto, D Schlessinger and M D'Urso P.659 Genetic mapping of the human homologue (T) of mouse T (Brachyury) and a search for allele association between human T and spina bifida K Morrison, C Papapetrou, J Attwood, F Hol, S A Lynch, A Sampath, B Hamel, J Burn, J Sowden, D Stott, E Mariman and Y H Edwards P. 669 A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region A M Theodosiou, N R Rodrigues, M A Nesbit, H J Ambrose, H Paterson, E. McLellan-Arnold, Y Boyd, M A Leversha, N Owen, D J Blake, A Ashworth and K E Davies P.675 Heterogeneity in telomere length of human chromosomes P M Lansdorp, N P Verwoerd, F M van de Rijke, V Dragowska, M-T Little, R W Dirks, A K Raap and H J Tanke P. 685 Confirmation of three susceptibility genes to insulin- dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8 D-F Luo, R Buzzetti, J I Rotter, N K Maclaren, L J Raffel, L Nistico, C Giovannini, P Pozzilli, G Thomson and J-X She P.693 Linkage of polymorphic congenital cataract to the gamma- crystallin gene locus on human chromosome 2q33-35 E I Rogaev, E A Rogaeva, G I Korovaitseva, L A Farrer, A N Petrin, S A Keryanov, S Turaeva, I Chumakov, P St. George-Hyslop and E K Ginter P. 699 Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p A J Lotery, K T Ennis, G Silvestri, S Nicholl, D McGibbon, A D Collins and A E Hughes P. 705 =========================================== 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 May 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 April 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.