HUM-MOLGEN archive: LITE: Preview Human Molecular Genetics 5:3 (March 1996 issue)

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Please enjoy the preview of Human Molecular Genetics; March 1996 issue (Thanks to Oxford University Press) Arthur Bergen (LITE editor) ************************************************************************* ========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 3 March 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== COMMENTARY Endothelin receptor-mediated signaling in Hirschsprung disease A Chakravarti P.303 ARTICLES A human modifier of methylation for class I HLA genes (MEMO-1) maps to chromosomal bands 1p35-36.1 N C Cheng, A J K Chan, M M Beitsma, F Speleman, A Westerveld and R Versteeg P. 309 Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome E E Eichler, J N Macpherson, A Murray, P A Jacobs, A Chakravarti and D L Nelson P. 319 Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli T L Kelson, T Ohura and J P Kraus P. 331 A radiation hybrid map of the human genome G Gyapay, K Schmitt, C Fizames, H Jones, N Vega-Czarny, D Spillett, D Muselet, J-F Prud'Homme, C Dib, C Auffray, J Morissette, J Weissenbach, P N Goodfellow P. 339 REPORTS Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease T Kusafaka, Y Wang and P Puri P. 347 Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population A Auricchio, G Casari, A Staiano and A Ballabio P. 351 Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease J Amiel, T Attie, D Jan, A Pelet, P Edery, C Bidaud, D Lacombe, P Tam, J Simeoni, E Flori, C Nihoul-Fekete, A Munnich and S Lyonnet P. 355 Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy C H Wang, J Xu, T A Carter, B M Ross, M K Dominski, C A Bellcross, G K Penchaszadeh, T L Munsat and T C Gilliam P. 359 Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis M Konrad, S Saunier, L Heidet, F Silbermann, F Benessy, J Calado, D Le Paslier, M Broyer, M-C Gubler and C Antignac P. 367 A unique origin and multistep process for generation of expanded DRPLA triplet repeats H Yanagisawa, K Fujii, S Nagafuchi, Y Nakahori, Y Nakagome, A Akane, M Nakamura, A Sano, O Komure, I Kondo, D Kyu Jin, S A Sorensen, N T Potter, S R Young, K Nakamura, N Nukina, Y Nagao, K Tadokoro, T Okuyama, T Miyashita, T Inoue, I Kanazawa and M Yamada P. 373 cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene M Gossen, I Schmitt, K Obst, P Wahle, J T Epplen and O Riess P. 381 X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse L Carrel, C M Clemson, J M Dunn, A P Miller, P A Hunt, J B Lawrence and H F Willard P. 391 Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity O Bandmann, T G Nygaard, R Surtees, C D Marsden, N W Wood and A E Harding P. 403 Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria J-C Deyback, H Puy, A-M Robreau, J Lamoril, V Da Silva, B Grandchamp and Y Nordmann P.407 LINKAGE REPORTS Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24 R G Gregg, C Palmer, S Kirkpatrick and A Simantel P. 411 A locus for autosomal dominant anterior polar cataract on chromosome 17p V Berry, A C W Ionides, A T Moore, C Plant, S S Battacharya and A Shiels P. 415 ========================================== 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 March 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 February 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. 26/01/96 March issue page 4