June 1996

volume 13 Number 2     editorial   Simple minds and complex traits  p 131   news & views   Drosophila inherit diseases  p 133   Changing tack on the map  p 134   Why mice drink  p 137   Tapping into tumours  p 139   correspondence   PAX6 missense mutation in isolated foveal hypoplasia  p 141   CNTF and psychiatric disorders  p 142   Biotinidase mutational 'hotspot'  p 144   articles   Identification of sex-specific quantitative trait loci controlling alcohol preference in C57BL/6 mice  p 147 Justine A. Melo, Jay Shendure, Kara Pociask & Lee M. Silver   Minisatellite diversity supports a recent African origin for modern humans  p 154 John A.L. Armour1, Tiiu Anttinen2, Celia A. May1, Emilce E. Vega1, Antti Sajantila2, Judith R. Kidd3, Kenneth K. Kidd3, Jaume Bertranpetit4, Svante P��bo2 & Alec J. Jeffreys1   A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2  p 161 C.L. Hanis1, E. Boerwinkle1, R. Chakraborty1, D.L. Ellsworth1, P. Concannon2, B. Stirling2, V.A. Morrison2, B. Wapelhorst2, R.S. Spielman3, K.J. Gogolin-Ewens3, J.M. Shephard3, S.R. Williams3, N. Risch4, D. Hinds4, N. Iwasaki5, M. Ogata5, Y. Omori5, C. Petzold6, H. Rietzsch6, H.-E. Schr�der6, J. Schulze6, N.J. Cox7, S. Menzel7, V.V. Boriraj7, X. Chen7, L.R. Lim7, T. Lindner7, L.E. Mereu7, Y.-Q. Wang7, K. Xiang7, K. Yamagata7, Y. Yang7 & G.I. Bell7   Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching  p 167 Sandro Banfi1, Giuseppe Borsani1, Elena Rossi2,3, Loris Bernard1, Alessandro Guffanti1, Francesca Rubboli1, Anna Marchitiello1, Sabrina Giglio3, Elisabetta Coluccia3, Massimo Zollo1, Orsetta Zuffardi2,3 & Andrea Ballabio1,4   A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast  p 175 Group 1: Jocelyn Laporte, Ling Jia Hu, Christine Kretz & Jean-Louis Mandel Group 2: Petra Kioschis, Johannes F. Coy, Sabine M. Klauck & Annemarie Poustka Group 3: Niklas Dahl   Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2  p 183 David B. Simon1, Fiona E. Karet1, Jahed M. Hamdan2, Antonio Di Pietro3, Sami A. Sanjad4 & Richard P. Lifton1   Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2  p 189 D.W. Johnson1, J.N. Berg1,2, M.A. Baldwin1, C.J. Gallione1, I. Marondel3, S.-J. Yoon3, T.T. Stenzel1,4, M. Speer5, M.A. Pericak-Vance5, A. Diamond6, A.E. Guttmacher7, C.E. Jackson8, L. Attisano9, R. Kucherlapati3, M.E.M. Porteous2 & D.A. Marchuk1   Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo  p 196 Hanako Ikeda1, Masahiro Yamaguchi1, Satoshi Sugai2, Yoshiya Aze2, Shuh Narumiya1 & Akira Kakizuka1   Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse  p 203 Ke-Jian Lei1, Hungwen Chen1, Chi-Jiunn Pan1, Jerrold M. Ward3, Bedrich Mosinger, Jr.2,4, Eric J. Lee2, Heiner Westphal2, Brian C. Mansfield1 & Janice Yang Chou1   letters   A functionally defective allele of TAP1 results in loss of MHC class I antigen presentation in a human lung cancer  p 210 Hailei L. Chen1, Dmitry Gabrilovich1, Robert Tamp�2, Khaled R. Girgis1, Sorena Nadaf1 & David P. Carbone1   Ankyrin-1 mutations are a major cause of dominantand recessive hereditary spherocytosis  p 214 Stefan W. Eber1,3, Jennifer M. Gonzalez1, Marcia L. Lux1, Alphonse L. Scarpa4, William T. Tse4, Marion Dornwell3, Jutta Herbers3, Wilfried Kugler3, Refik �zcan3, Arnulf Pekrun3, Patrick G. Gallagher5, Werner Schr�ter3, Bernard G. Forget4 & Samuel E. Lux1,2   A murine model of Menkes disease reveals a physiological function of metallothionein  p 219 Edward J. Kelly & Richard D. Palmiter   Characterization of DRP2, a novel human dystrophin homologue  p 223 Roland G. Roberts1,2, Tom C. Freeman3, Elaine Kendall1, David L.P. Vetrie1, Alistair K. Dixon3, Charles Shaw-Smith3,4, Quentin Bone5 & Martin Bobrow1,2   A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation  p 227 Maurizio D'Esposito1, Alfredo Ciccodicola1,2, Fernando Gianfrancesco1, Teresa Esposito1,2, Luisa Flagiello1, Richard Mazzarella3, David Schlessinger3 & Michele D'Urso1   Sex reversal by loss of the C-terminal transactivation domain of human SOX9  p 230 Peter S�dbeck1, M. Lienhard Schmitz2, Patrick A. Baeuerle2 & Gerd Scherer1   Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia  p 233 Michael C. Naski, Qing Wang, Jingsong Xu & David M. Ornitz   BRCA2 mutations in primary breast and ovarian cancers  p 238 Johnathan M. Lancaster1, Richard Wooster2, Jonathon Mangion2, Catherine M. Phelan3,4,5, Charles Cochran1, Curtis Gumbs5, Sheila Seal2, Rita Barfoot2, Nadine Collins2, Graham Bignell2, Sandeep Patel2, Rifat Hamoudi2, Catharina Larsson3, Roger W. Wiseman1, Andrew Berchuck7, J. Dirk Iglehart5, Jeffrey R. Marks5, Alan Ashworth6 , Michael R. Stratton2 & P. Andrew Futreal5,7,8   Low incidence of BRCA2 mutations in breast carcinoma and other cancers  p 241 David H.-F. Teng1, Robert Bogden1, Jeffrey Mitchell1, Michelle Baumgard1, Russell Bell1, Simin Berry1, Thaylon Davis1, Phuong C. Ha1, Robert Kehrer1, Srikanth Jammulapati1, Qian Chen1, Kenneth Offit2, Mark H. Skolnick1, Sean V. Tavtigian1, Suresh Jhanwar2, Brad Swedlund1, Alexander K.C. Wong1 & Alexander Kamb1   Mutation analysis in the BRCA2 gene in primary breast cancers  p 245 Yoshio Miki1, Toyomasa Katagiri1, Fujio Kasumi2, Takamasa Yoshimoto2 & Yusuke Nakamura1,3   A novel splice-site mutation in the * subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families  p 248 Sandra S. Strautnieks, Richard J. Thompson, R. Mark Gardiner & Eddie Chung