HUM-MOLGEN archive: LITE: Human Molecular Genetics

===================================================================== Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 5 MAY 1995 ===================================================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ===================================================================== CONTENTS ===================================================================== ARTICLES A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture E W Khandjian, A Fortin, A Thibodeau, S Tremblay, F Cote, D Devys, J-L Mandel and F Rousseau P.783 A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region V Lamour, Y Lecluse, C Desmaze, M Spector, M Bodescot, A Aurias, M A Osley and M Lipinski P.791 Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region W P Robinson and M Lalande P.801 Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease H Maruyama, S Nakamura, Z Matsuyama, T Sakai, M Doyu, G Sobue, M Seto, M Tsujihata, T Oh-i, T Nishio, N Sunohara, R Takahashi, M Hayashi, I Nishino, T Ohtake, T Oda, M Nishimura, T Saida, H Matsumoto, M Baba, Y Kawaguchi, A Kakizuka and H Kawakami P.807 Reverse replication timing for the XIST gene in human fibroblasts R S Hansen, T K Canfield, and S M Gartler P.813 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease M Angrist, S Bolk, B Thiel, E G Puffenberger, R M Hofstra, C H C M Buys, D T Cass and A Chakravarti P.821 High resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes R J Florijn, L A J Bonden, H Vrolijk, J Wiegant, J-W Vaandrager, F Baas, J T den Dunnen, H J Tanke, G-J B van Ommen and A K Raap P.831 A novel dystrophin isoform is required for normal retinal electrophysiology V N D'Souza, N thi Man, G E Morris, W Karges, D-A M Pillers and P N Ray P.837 Structural organisation and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus G Jansen, D Bachner, M Coerwinkel, N Wormskamp, H Hameister and B Wieringa P.843 REPORTS No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease M B Liddell, A J Bayer and M J Owen P.853 The human Y chromosome homologue of XG: transcription of a naturally truncated gene P A Weller, R Critcher, P N Goodfellow, J German and N A Ellis P.859 The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability A Klink, K Schiebel, M Winkelmann, E Rao, B Horsthemke, H-J Ludecke, U Claussen, G Scherer and G Rappold P.869 Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews B Glaser, K C Chiu, L Liu, R Anker, A Nestorowicz, N J Cox, H Landau, N Kaiser, P S Thornton, C A Stanley, E Cerasi, L Baker, H Donis-Keller and M A Permutt P.879 The distribution of linkage disequilibrium over anonymous genome regions A C Peterson, A Di Rienzo, A-E Lehesjoki, A de la Chappelle, M Slatkin and N B Freimer P.887 Characterization of FMR1 proteins isolated from different tissues C Verheij, E de Graff, C E Bakker, R Willemsen, P J Willems, N Meijer, H Galjaard, A J J Reuser, B A Oostra and A T Hoogeveen P.895 Human cell mutants with very low mitochondrial DNA copy number (rhod) F Vaillant and P Nagley P.903 Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene G Danglot, V Regnier, D Fauvet, G Vassal, M Kujas and A Bernheim P.915 Mitochondrial DNA diversity in the Kuna Amerinds of Panama O Batista, C J Kolman and E Bermingham P.921 Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region A A B Bergen, J B ten Brink, F Riemslag, E J M Schuurman and N Tijmes P.931 Nucleotide sequence analysis of the apolipoprotein B 3' VNTR D L Ellsworth, M D Shriver and E Boerwinkle P.937 A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q P Vincent, H Plauchu, J Hazan, S Faure, J Weissenbach and J Godet P.945 Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) P W Lunt, P E Jardine, M C Koch, J Maynard, M Osborn, M Williams, P S Harper and M Upadhyaya P.951 A homozygous nonsense mutation in the alpha3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa S Kivirikko, J A McGrath, C Baudoin, D Aberdam, S Ciatti, M G S Dunnill, J R McMillan, R A J Eady, J-P Ortonne, G Meneguzzi, J Uitto and A M Christiano P.959 Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of the chromosomal anomalies C T Lawson, C Toomes, A Fryer, M J M Carette, G M Taylor, Y Fukushima and M J Dixon P.963 MUTATION REPORT Molecular analysis of type II 3beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3beta-hydroxysteroid dehydrogenase deficiency T Tajima, K Fujieda, J Nakae, N Shinohara, M Yoshimoto, T Baba, E-i Kinoshita, Y Igarashi and T Oomura P.969 Author index P.973 ===================================================================== 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 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 1 May 1995. 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.