HUM-MOLGEN archive: LITE: Human Molecular Genetics

============================================================== Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 8 August 1995 ============================================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ============================================================== CONTENTS ============================================================== ARTICLES Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy D J Wells, K E Wells, E A Asante, G Turner, Y Sunada, K P Campbell, F S Walsh and G Dickson. P.1245 Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice S F Phelps, M A Hauser, N M Cole, J A Rafael, R T Hinkle, J A Faulkner and J S Chamberlain. P.1251 Comparison of the positional cloning methods used to isolate the BRCA1 gene K Harshman, R Bell, J Rosenthal, H Katcher, Y Miki, J Swenson, Z Gholami, C Frye, W Ding, P Dayananth, K Eddington, F H Norris, P K Bristow, R Phelps, T Hattier, S Stone, D Shaffer, S Bayer, C Hussey, T Tran, K Richardson, B Dehoff, M Lai, P R Rosteck,Jr, M H Skolnick, D Shattuck-Eidens and A Kamb. P.1259 On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1 S Hoffmeyer, G Assum, J Griesser, D Kaufmann, P Nurnberg and W Krone. P.1267 Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs B Wirth, E Hahnen, K Morgan, C J DiDonato, A Dadze, S Rudnik-Schoneborn, L R Simard, K Zerres and A H M Burghes. P.1273 A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease M A Rafi, P Luzi, Y Q Chen and D A Wenger. P.1285 Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries M-L Yaspo, L Gellen, R Mott, B Korn, D Nizetic, A Poustka and H Lehrach. P.1291 REPORTS Localization of 102 exons to a 2.5 Mb region involved in Down syndrome D Lucente, H M Chen, D Shea, S N Samec, M Rutter, R Chrast, C Rossier, A Buckler, S E Antonarakis and M K McCormick. P.1305 A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin L Hansen, T Hansen, H Vestergaard, C Bjorbaek, S M Echwald, J O Clausen, Y H Chen, M X Chen, P T W Cohen and O Pedersen. P.1313 Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene A Savoia, M Centra, L Ianzano, G P de Cillis, L Zelante and M Buchwald. P.1321 Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome A Rotig, T Bourgeron, D Chretien, P Rustin and A Munnich. P.1327 A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family A E Turco, S Rossetti, E Bresin, S Corra', L Gammaro, G Maschio and P F Pignatti. P.1331 A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13-14 C Geisen, H Delius, P Lichter and T Kahn. P.1337 A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3 R F Clark, M Cruts, K M Korenblat, C He, C Talbot, C Van Broeckhoven and A M Goate. P.1347 Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3 M Cruts, H Backhovens, J Theuns, R F Clark, D Le Paslier, J Weissenbach, A M Goate, J-J Martin and C Van Broeckhoven. P.1355 Expression of the Huntington's disease (IT15) protein product in HD patients G Schilling, A H Sharp, S J Loev, M V Wagster, S-H Li, O C Stine and C A Ross. P.1365 Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries C C Lee, A Yazdani, M Wehnert, Z Y Zhao, E A Lindsay, J Bailey, M I Coolbaugh, L Couch, M Xiong, A C Chinault, A Baldini and C T Caskey. P.1373 Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease T Attie, A Pelet, P Edery, C Eng, L M Mulligan, J Amiel, L Boutrand, C Beldjord, C Nihoul-Fekete, A Munnich, B A J Ponder and S Lyonnet. P.1381 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome M C Gorry, R A Preston, G J White, Y Zhang, V K Singhal, H W Losken, M G Parker, N A Nwokoro, J C Post and G D Ehrlich. P.1387 Autosomal recessive lamellar icthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity L Parmentier, C Blanchet-Bardon, S Nguyen, J-F Prud'homme, L Dubertret and J Weissenbach. P.1391 Myotonia levior is a chloride channel disorder F Lehmann-Horn, V Mailander, R Heine and A L George. P.1397 Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members J H van Ree, W J J A van den Broek, A van der Zee, V E H Dahlmans, B Wieringa, R R Frants, L M Havekes and M H Hofker. P.1403 Friedreich's ataxia: a defect in signal transduction? J J Carvajal, M A Pook, K Doudney, R Hillermann, D Wilkes, S Al-Mahdawi, R Williamson and S Chamberlain. P.1411 Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN)gene V Tiranti, P Chariot, F Carella, A Toscano, P Soliveri, P Girlanda, F Carrara, G M Fratta, F M Reid, C Mariotti and M Zeviani. P.1421 A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia L Laue, S-M Wu, M Kudo, A J W Hsueh, G B Cutler,Jr, J E Griffin, J D Wilson, C Brain, A C Berry, D B Grant and W-Y Chan. P.1429 LINKAGE REPORTS Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25) E Heon, B P Sheth, J W Kalenak, S L F Sunden, L M Streb, C M Taylor, W L M Alward, V C Sheffield and E M Stone. P.1435 Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1 M Holmberg, J Johansson, L Forsgren, J Heijbel, O Sandgren and G Holmgren. P.1441 A gene for Leber's congenital amaurosis maps to chromosome 17p A Camuzat, H Dollfus, J-M Rozet, S Gerber, D Bonneau, M Bonnemaison, M-L Briard, J-L Dufier, I Ghazi, C Leowski, J Weissenbach, J Frezal, A Munnich and J Kaplan. P.1447 Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker M Sarfarazi, A N Akarsu and B S Sayli. P.1453 An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q S Bardien, N Ebenezer, J Greenberg, C F Inglehearn, L Bartmann, R Goliath, P Beighton, R Ramesar and S S Bhattacharya. P.1459 MUTATION REPORTS Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene R Varon, K Magdorf, D Staab, H-U Wahn, M Krawczak, K Sperling and A Reis. P.1463 Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative Mr region in Xq21.1 between DXS233 and CHM M May, L Colleaux, A Murgia, A Aylsworth, R Nussbaum, M Fontes and C Schwartz. P.1465 Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3 M Bitner-Glindzicz, P Turnpenny, P Hoglund, H Kaariainen, E-M Sankila, S M van der Maarel, Y J M de Kok, H-H Ropers, F P M Cremers, M Pembrey and S Malcolm. P.1467 A de novo frame-shift mutation in the tuberin gene A Kumar, C Wolpert, R S Kandt, J Segal, J Pufky, A D Roses, M A Pericak-Vance and J R Gilbert. P.1471 Author index P.1473 ============================================================== 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 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on the 20 July 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.