HUM-MOLGEN archive: LITE: Human Molecular Genetics Jan 96 Issue TOC

************************************************************** IMPORTANT NOTICE: With immediate effect, some changes have been made to the Instructions to Authors for Human Molecular Genetics, in particular a change in address for submissions from outside the USA. The revised Instructions to Authors can be found in the January 1996 issue of Human Molecular Genetics. You can also find them on the World Wide Web. Simply go to the Human Molecular Genetics home page at <http://www.oup.co.uk/hmg>. Alternatively, if you would like a copy of the revised Instructions to Authors sent to you by mail, fax, or e-mail, contact Richard Gedye at the Oxford University Press - details at the bottom of the Table of Contents below. *************************************************************** ==================================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 1 January 1996 ==================================================== Executive Editors:- K E Davies, Oxford UK Huntington F Willard, Cleveland, OH, USA ==================================================== CONTENTS ==================================================== ARTICLES Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases D Phaneuf, N Wakamatsu, J-Q Huang, A Borowski, A C Peterson, S R Fortunato, G Ritter, S A Igdoura, C R Morales, G Benoit, B R Akerman, D Leclerc, N Hanai, J D Marth, J M Trasler, and R A Gravel P.1 In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma F G Barr, L E Nauta, R J Davis, B W Schafer, L M Nycum, and J A Biegel P.15 Human pseudoautosomal boundary-like sequences: expression and involvement in evolutionary formation of the present-day pseudoautosomal boundary of human sex chromosomes T Fukagawa, Y Nakamura, K Okumura, M Nogami, A Ando, H Inoko, N Saitou and T Ikemura P.23 Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1) S Banfi, A Servadio, M-y Chung, F Capozzoli, L A Duvick, R Elde, H Y Zoghbi and H T Orr P.33 Cloning and characterization of a murine brain specific gene Bpx and its human homologue lying within the Xic candidate region C Rougeulle and P Avner P.41 An animal model for Norrie disease (ND): gene targeting of the mouse ND gene W Berger, D van de Pol, D Bachner, F Oerlemans, H Winkens, H Hameister, B Wieringa, W Hendriks, and H-H Rop P.51 REPORTS Structural analysis of the minisatellite present at the 3' end of the human apolipoprotein B gene: new definition of the alleles and evolutionary implications C Buresi, E Desmarais, S Vigneron, H Lamarti, N Smaoui, F Cambien and G Roizes P.61 Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal S Ninomiya, M Isomura, K Narahara, Y Seino, and Y Nakamura P.69 A point mutation in the 5' splice of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy J Milasin, F Muntoni, G M Severini, L Bartoloni, M Vatta, M Krajinovic, A Mateddu, C Angelini, F Camerini, A Falaschi, L Mestroni, M Giacca, and the Heart Muscle Disease Study Group P.73 Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease Y Takahashi, H Miyajima, S Shirabe, S Nagataki, A Suenaga, and J D Gitlin P.81 Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients F Krasnoshtein and M Buchwald P.85 Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms A Sittler, D Devys, C Weber and J-L Mandel P.95 A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? E LeGuern, R Gouider, N Ravise, J Lopes, S Tardieu, M Gugenheim, N Abbas, P Bouche, Y Agid and A Brice P.103 Bi-directional dideoxy fingerprinting (Bi-ddF) : a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp Q Liu, J Feng and S S Sommer P.107 Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy L T Timchenko, N A Timchenko, C T Caskey, and R Roberts P.115 Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids D R Dunbar, P A Moonie, M Zeviani and I J Holt P.123 Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish M M Maheshwar, R Sandford, M Nellist, J P Cheadle, B Sgotto, M Vaudin and J R Sampson P.131 Deletions of Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region L-J Hu, J Laporte, W Kress, P Kioschis, R Siebenhaar, A Poustka, M Fardeau, A Metzenberg, E A Janssen, N Thomas, J L Mandel and N Dahl P.139 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia P J Byrd, C M McConville, P Cooper, J Parkhill, T Stankovic, G M McGuire, J A Thick and A M R Taylor P.145 LINKAGE REPORTS Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21 M Wijker, Z K Wszolek, E C H Wolters, M A Rooimans, G Pals, R F Pfeiffer, T Lynch, R L Rodnitzky, K C Wilhelmsen and F Arwert P.151 A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23 H Chaib, C Place, N Salem, S Chardenoux, C Vincent, J Weissenbach, E El-Zir, J Loiselet and C Petit P.155 Hereditary inclusion body myopathy maps to chromosome 9p1-q1 S Mitrani-Rosenbaum, Z Argov, A Blumenfeld, C E Seidman and J G Seidman P.159 Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan A Veske, R Oehlmann, F Younus, A Mohyuddin, B Muller-Myhsok, S Qasim Mehdi and A Gal P.165 Linkage studies on non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175 K A Brown, A H Janjua, G Karbani, G Parry, A Noble, G Crockford, D T Bishop, V E Newton, A F Markham and R F Mueller P.169 ==================================================== 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 January 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 December 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.