HUM-MOLGEN archive: LITE: Human Molecular Genetics 5:2 (february 1996 issue)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 2 February 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== ARTICLE Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript Y P Goldberg, M A Kalchman, M Metzler J Nasir, J Zeisler, R Graham, H B Koide J O'Kusky, A H Sharp, C A Ross, F Jirik and M R Hayden P. 177 REPORTS FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites C M Wilke, B K Hall, A Hoge, W Paradee, D I Smith and T W Glover P. 187 Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number H A C M Bentlage and G Attardi P.197 Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats P Limprasert, N Nouri, R A Heyman, C Nopparatana, M Kamonsilp, P L Deininger and B J B Keats P. 207 Somatic mutations are frequent and increase with age in human kidney epithelial cells G M Martin, C E Ogburn, L M Colgin A M Gown, S D Edland and R J Monnat P. 215 Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21 U Schell, J Wienberg, A Koehler P Bray-Ward, D E Ward, W G Wilson, W P Allen, R R Lebel, J R Sawyer, P L Campbell, D J Aughton, H H Punnett, E J Lammer, F-T Kao, D C Ward and M Muenke P. 223 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa S Kivirikko, J A McGrath, L Pulkkinen J Uitto and A M Christiano P. 231 Localization of a tumor suppressor gene in 11p15.5 using the g401 Wilms' tumor assay L H Reid, A West, D G Gioeli, K K Phillips, K F Kelleher, D Araujo, E J Stanbridge, S F Dowdy, D S Gerhard and B E Weissman P. 239 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients P J Wilson, V Ramesh, A Kristiansen, C Bove, S Jozwiak, D J Kwiatkowski M P Short and J L Haines P.249 Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype E Velasco, C Valero, A Valero, F Moreno and C Hernandez-Chico P. 257 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome C L Bevan, B B Brown, H R Davies B A J Evans, I A Hughes and M N Patterson P. 265 A candidate gene for mild mental handicap at the FRAXE fragile site L Chakrabarti, S J L Knight, A V Flannery and K E Davies P. 275 Elevation in the ratio of Cu/Zn-superoxide dismutase to glutathione peroxidase activity induces features of cellular senescence and this effect is mediated by hydrogen peroxide J B de Haan, F Cristiano, R Iannello C Bladier, M J Kelner, I Kola P. 283 LINKAGE REPORT Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping S S Strautnieks, R J Thompson, A Hanukoglu, M J Dillon, I Hanukoglu, U Kuhnle, J Seckl, R M Gardiner and E Chung P. 293 =========================================== 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 February 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 January 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.