HUM-MOLGEN archive: LITE: Human Molecular Genetics 5:7 (Preview July 1996)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 7 July 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" ============================================= Commentary J S Beckmann Genetic studies and molecular structures: the dystrophin associated complex P.865 Articles D J Elliott, K Ma, S M Kerr, R Thakrar, R Speed, A C Chandley and H Cooke An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells P. 869 M E Moynahan, E Akgun and M Jasin A model for testing recombinogenic sequences in the mouse germline P. 875 S M van der Maarel, I H J M Scholten, I Huber, C Philippe, R F Suijkerbuijk, S Gilgenkrantz, J Kere, F P M Cremers and H-H Ropers Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1 P. 887 E E Eichler, F Lu, Y Shen, R Antonacci, V Jurecic, N A Doggett, R K Moyzis, A Baldini, R A Gibbs and D L Nelson Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution P. 899 R Kumar-Singh and J S Chamberlain Encapsidated adenovirus minichromosomes allow delivery and expression of a 14 kb dystrophin cDNA to muscle cells P. 913 S Igarashi, Y Takiyama, G Cancel, E A Rogaeva, H Sasaki, A Wakisaka, Y-X Zhou, H Takano, K Endo, K Sanpei, M. Oyake, H Tanaka, G Stevanin, N Abbas, A Durr, E I Rogaev, R Sherrington, T Tsuda, M Ikeda, E Cassa, M Nishizawa, A Benomar, J Julien, J Weissenbach, G-X Wang, Y Agid, P H St. George- Hyslop, A Brice and S Tsuji Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat P. 923 P H Vogt, A Edelmann, S Kirsch, O Henegariu, P Hirschmann, F Kiesewetter, F M Koehn, W B Schill, S Farah, C Ramos, M Hartmann, W Hartschuh, D Meschede, H M Behre, A Castel, E Nieschlag, W Weidner, H-J Groene, A Jung, W Engel and G Haidl Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 P. 933 A N Akarsu, I Stoilov, E Yilmaz, B S Sayli and M Sarfarazi Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families P. 945 Reports A Pizzuti, F Amati, G Calabrese, A Mari, A Colosimo, V Silani, L Giardino, A Ratti, D Penso, L Calza, G Palka, G Scarlato, G Novelli and B Dallapiccola cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene P. 953 M R Hill and W O C M Cookson A new variant of the [beta] -subunit of the high-affinity receptor for immunoglobulin E (Fc [epsilon] RI- [beta] E237G): associations with measures of atopy and bronchial hyper- responsiveness P. 959 M-X Guan, N Fischel-Ghodsian and G Attardi Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation P. 963 U Lenk, K Oexle, T Voit, U Ancker, K-A Hellner, A Speer and C Huebner A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b- wave P. 973 P Billuart, M C Vinet, V des Portes, S Llense, L Richard, M L Moutard, D Recan, T Bruels, T Bienvenu, A Kahn, C Beldjord and J Chelly Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation P. 977 L Warnich, M J Kotze, I M Groenewald, J Z Groenewald, M G van Brakel, C J van Heerden, J N P de Villiers, W J M van de Ven, E F P M Shoenmakers, S Taketani and A E Retief Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria P. 981 R Sherrington, S Froelich, S Sorbi, D Campion, H Chi, E A Rogaeva, G Levesque, E I Rogaev, C Lin, Y Liang, M Ikeda, L Mar, A Brice, Y Agid, M E Percy, F Clerget-Darpoux, S Piacentini, G Marcon, B Nacmias, L Amaducci, T Frebourg, L Lannfelt, J M Rommens and P H St George-Hyslop Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant P. 985 T Takahara, T Ohsumi, J Kuromitsu, K Shibata, N Sasaki, Y Okazaki, H Shibata, S Sato, A Yoshiki, M Kusakabe, M Muramatsu, M Ueki, K Okuda and Y Hayashizaki Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon P. 989 N Raben, R C Nichols, F Martiniuk and P H Plotz A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II) P. 995 C Neri, V Albanese, A-S Lebre, S Holbert, C Saada, L Bougueleret, S Meier-Ewert, I Le Gall, P Millasseau, H Bui, C Giudicelli, C Massart, S Guillou, P Gervy, E Poullier, P Rigault, J Weissenbach, G Lennon, I Chumakov, J Dausset, H Lehrach, D Cohen and H M Cann Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders P. 1001 L Dupuis, A Leon-Del-Rio, D Leclerc, E Campeau, L Sweetman, J-M Saudubray, G Herman, K M Gibson and R A Gravel Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency P. 1011 M F Arlt, T J Herzog, D G Mutch, D J Gersell, H Liu and P J Goodfellow Frequent deletion of chromosome 1p sequences in an aggressive histologic subtype of endometrial cancer P. 1017 B Ludecke, P M Knappskog, P T Clayton, R A H Surtees, J D Clelland, S J R Heales, M P Brand, K Bartholome and T Flatmark Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene P. 1023 L Roewer, M Kayser, P Dieltjes, M Nagy, E Bakker, M Krawczak and P de Knijff Analysis of molecular variance (AMOVA) of Y-chromosome- specific microsatellites in two closely related human populations P. 1029 R Roepman, G van Duijnhoven, T Rosenberg, A J L G Pinckers, L M Bleeker-Wagemakers, A A B Bergen J Post, A Beck, R Reinhardt, H-H Ropers, F P M Cremers and W Berger Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide- exchange factor RCC1 P. 1035 Linkage Reports M C Speer, R Tandan, P N Rao, T Fries, J M Stajich, P A Bolhuis, G J Jobsis, J M Vance, K D Viles, K Sheffield, C James, S G Kahler, M Pettenati, J R Gilbert, P H Denton, L H Yamaoka and M A Pericak- Vance Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37 P. 1043 E N Manolis, N Yandavi, J B Nadol Jr, R D Eavey, M McKenna, S Rosenbaum, U Khetarpal, C Halpin, S N Merchant, G M Duyk, C MacRae, C E Seidman and J G Seidman A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13 P. 1047 A Bolino, V Brancolini, F Bono, A Bruni, A Gambardella, G Romeo, A Quattrone and M Devoto Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing P. 1051 C Y Gregory, K Evans, S D Wijesuriya, S Kermani, M R Jay, C Plant, N Cox, A C Bird and S S Bhattacharya The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16 P. 1055 H Chaib, C Place, N Salem, C Dode, S Chardenoux, J Weissenbach, E El Zir, J Loiselet and C Petit Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 P. 1061 V Timmerman, P de Jonghe, S Simokovic, A Lofgren, J Beuten, E Nelis, C Ceuterick, J-J Martin and C van Broeckhoven Distal hereditary motor neuropathy type II (distal HMN II): maping of a locus to chromosome 12q24 P. 1065 J L Davies, F Cucca, J V Goy, Z A A Atta, M E Merriman, A Wilson, A H Barnett, S C Bain and J A Todd Saturation multipoint linkage mapping of chromosome 6q in type 1 diabetes P. 1071 L Nistico, R Buzzetti, L E Pritchard, B Van der Auwera, C Giovannini, E Bosi, M T M Larrad, M Serrano Rios, C C Chow, C S Cockram, K Jacobs, C Mijovic, S C Bain, A H Barnett, C L Vandewalle, F Schuit, F K Gorus, Belgian Diabetes Registry, R Tosi, P Pozzilli and J A Todd The CLTA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes P. 1075 =========================================== 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 July 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 June 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. 30/05/96 July issue page 7