HUM-MOLGEN archive: LITE: Human Molecular Genetics 5:8, 5:9

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" ========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 8 August 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== ARTICLES The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals D E Eberhart, H E Malter, Y Feng and S T Warren P. 1083 Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation K E De Rooij, J C Dorsman, M A Smoor, J T Den Dunnen and G-J B Van Ommen P. 1093 Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors W-Y Chung, L Yuan, L Feng, T Hensle and B Tycko P. 1101 REPORTS The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component E I Rugarli, C Ghezzi, V Valsecchi and A Ballabio P. 1109 Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23 I K Temple, R J Gardner, D O Robinson, M S Kibirige, A W Ferguson, J D Baum, J C K Barber, R S James and J P H Shield P. 1117 Biallelic expression of the IGF2 gene in human breast disease A H McCann, N Miller, A O'Meara, I Pedersen, K Keogh, T Gorey and P A Dervan P. 1123 Association between atopic asthma and a coding variant of Fc[EPSILON]RI[BETA] in a Japanese population T Shirakawa, X-Q Mao, S Sasaki, T Enomoto, M Kawai, K Morimoto and J Hopkin P. 1129 A fine-scale comparison of the human and chimpanzee genomes: linkage, linkage disequilibrium, and sequence analysis B Crouau-Roy, S Service, M Slatkin and N. Freimer P. 1131 Ott, a mouse X-linked multigene family expressed specifically during meiosis S M Kerr, M H Taggart, M Lee and H J Cooke P. 1139 Differential expression of dystrophin isoforms in strains of mdx mice with different mutations W B Im, S F Phelps, E H Copen, E G Adams, J L Slightom and J S Chamberlain P. 1149 Mouse/human sequence divergence in a region with a paternal- specific methylation imprint at the human H19 locus Y Jinno, K Sengoku, M Nakao, K Tamate, T Miyamoto, T Matsuzuka, J S Sutcliffe, T Anan, N Takuma, K Nisiwaki, Y Ikeda, T Ishimaru, M Ishikawa and N Niikawa P. 1155 Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements J Flint, J Rochette, C F Craddock, C Dode, B Vignes, S W Horsley, L Kearney, V J Buckle, H Ayyub and D R Higgs P. 1163 Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells A El-Amraoui, I Sahly, S Picaud, J Sahel, M Abitbol and C Petit P. 1171 Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein V Nigro, G Piluso, A Belsito, L Politano, A A Puca, S Papparella, E Rossi, G Viglietto, M G Esposito, C Abbondanza, N Medici, A M Molinari, G Nigro and G A Puca P. 1179 LINKAGE REPORTS Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family T Fagerheim, O Nilssen, P Raeymaekers, V Brox, T Moum, H H Elverland, E Teig, H H Omland, G K Fostad and L Tranebjaerg P. 1187 A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1 S Y Xu, M Schwartz, T Rosenberg and A Gal P. 1193 A second locus (GLC3B) for primary congenital glaucoma (Buphthalmus) maps to the 1p36 region A N Akarsu, M E Turacli, S G Aktan, M Barsoum-Homsy, L Chevrette, B S Sayli and M Sarfarazi P. 1199 =========================================== ========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 9 September 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== ARTICLES Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis N Ben-Arie, A E McCall, S Berkman, G Eichele, H J Bellen and H Y Zoghbi P. 1207 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome A G Engel, K Ohno, M Milone, H-L Wang, S Nakano, C Bouzat, J N Pruitt II, D O Hutchinson, J M Brengman, N Bren, J P Sieb and S M Sine P. 1217 Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4 Y J M de Kok, E R Vossenaar, C W R J Cremers, N Dahl, J Laporte, L J Hu, D Lacombe, N Fischel- Ghodsian, R A Friedman, L S Parnes, P Thorpe, M Bitner-Glindzicz, H-J Pander, H Heilbronner, J Graveline, J T den Dunnen, H G Brunner, H-H Ropers and F P M Cremers P. 1229 REPORTS In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis H Kangas, T Paunio, N Kalkkinen, A Jalanko and L Peltonen P. 1237 Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer G Moslein, D J Tester, N M Lindor, R Honchel, J M Cunningham, A J French, K C Halling, M Schwab, P Goretzki and S N Thibodeau P. 1245 Founder effect in spinal and bulbar muscular atrophy (SBMA) F Tanaka, M Doyu, Y Ito, M Matsumoto, T Mitsuma, K Abe, M Aoki, Y Itoyama, K H Fischbeck and G Sobue P. 1253 Cloning and expression analyses of mouse dystroglycan gene: specific expression in maternal decidua at the peri-implantation S Yotsumoto, H Fujiwara, J H Horton, T A Mosby, X Wang, Y Cui and M S H Ko stage P. 1259 A 27 bp deletion of the anti-Mullerian type I receptor gene is the most common cause of the persistent Mullerian duct syndrome S Imbeaud, C Belville, L Messika-Zeitoun, R Rey, N di Clemente, N Josso and J-Y Picard P. 1269 Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation S L Page, J-C Shin, J-Y Han, K H A Choo and L G Shaffer P. 1279 Human, canine and murine BRCA1 genes: sequence comparison among species C I Szabo, L A Wagner, L V Francisco, J C Roach, R Argonza, M-C King and E A Ostrander P. 1289 Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71 D S Greenberg, Y Schatz, Z Levy, P Pizzo, D Yaffe and U Nudel P. 1299 A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region J Guimera, C Casas, C Pucharcos, A Solans, A Domenech, A M Planas, J Ashley, M Lovett, X Estivill and M A Pritchard P. 1305 Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase B Koshy, T Matilla, E N Burright, D E Merry, K H Fischbeck, H T Orr and H Y Zoghbi P. 1311 KVLQT1 mutations in three families with familial or sporadic long QT syndrome M W Russell, M Dick II, F S Collins and L C Brody P. 1319 Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism J C Webb, D D Patel, C C Shoulders, B L Knight and A K Soutar P. 1325 The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene S K Sidhar, J Clark, S Gill, R Hamoudi, A J Crew, R Gwilliam, M Ross, W M Linehan, S Birdsall, J Shipley and C S Cooper P. 1333 A family with Stickler syndrome type 2 has a mutation in the COL 11A1 gene resulting in the substitution of glycine 97 by valine in a1(XI) collagen A J Richards, J R W Yates, R Williams, S J Payne, F M Pope, J D Scott and M P Snead P. 1339 Role of late replication timing in the silencing of X-linked genes R Scott Hansen, T K Canfield, A D Fjeld and S M Gartler P. 1345 The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation S Sheardown, D Norris, A Fisher and N Brockdorff P. 1355 Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene L Carrel, P A Hunt and H F Willard P. 1361 LINKAGE REPORTS Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family H Kremer, L P Kuyt, B van den Helm, M van Reen, J A M Leunissen, B C J Hamel, C Jansen, E C M Mariman, R R Frants and G W Padberg P. 1367 Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D) V Ionasescu, C Searby, V C Sheffield, T Roklina, D Nishimura and R Ionasescu P. 1373 Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31 K Isozumi, R DeLong, J Kaplan, H-X Deng, Z Iqbal, W- Y Hung, K C Wilhelmsen, A Hentati, M A Pericak- Vance and T Siddique P. 1377 A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22 I del Castillo, M Villamar, M Sarduy, L Romero, C Herraiz, F J Hernandez, M Rodriguez, I Borras, A Montero, J Bellon, M C Tapia and F Moreno P. 1383 =========================================== 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 August 1996 / September 1996 issues. 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. +--------------------------------------------------------------------+ | | | HUM-MOLGEN - Internet Communication Forum in Human Genetics | | | | E-mail: HUM-MOLGEN@nic.surfnet.nl | | WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ | | | | Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) | | Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) | | | +--------------------------------------------------------------------+