March 1996

volume 12 Number 3     editorial   Of mice and mutagenesis  p 221   Behold BRCA2!  p 222   news & views   Granin expectations in breast cancer?  p 223   Glypicans: a growing trend  p 225   article   The most unkindest cut of all  p 227   news & views   Good genes in bad neighbourhoods  p 229   Round two for liver gene therapy  p 232   correspondence   Imprinted genes have few and small introns  p 234   Human choroideremia protein contains a FAD-binding domain  p 237   articles   Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome  p 241 Giuseppe Pilia1,5, Rhiannon M. Hughes-Benzie2, Alex MacKenzie2, Primo Baybayan3, Ellson Y. Chen3, Reid Huber1, Giovanni Neri4, Antonio Cao5, Antonino Forabosco6 & David Schlessinger1   Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1  p 248 Sue S. Chang1,2, Stefan Grunder3, Aaron Hanukoglu4, Ariel R�sler5, P.M. Mathew6, Israel Hanukoglu7, Laurent Schild3, Yin Lu1, Richard A. Shimkets1, Carol Nelson-Williams1, Bernard C. Rossier3 & Richard P. Lifton1,2   Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy  p 254 Atsushi Nagano1,2, Ritsuko Koga1, Megumu Ogawa1, Yoshihiro Kurano3, Junya Kawada4, Ryozo Okada5, Yukiko K. Hayashi1, Toshifumi Tsukahara1 & Kiichi Arahata1   The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduciton problems  p 260 Thomas A. Ebersole1,3, Qi Chen1,4, Monica J. Justice2,5 & Karen Artzt1   Hepatocytes corrected by gene therapy are selected in vivo in a model of hereditary tyrosinaemia type I  p 266 Ken Overturf1, Muhsen Al-Dhalimy1, Robert Tanguay3, Mark Brantly4, Ching-Nan Ou5, Milton Finegold5 & Markus Grompe1,2   Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor  p 274 Richard Rozmahel1,5, Michael Wilschanski2,6,7, Angabin Matin9, Suzanne Plyte5, Mary Oliver8, Wojtek Auerbach5, Aideen Moore7, Janet Forstner3,8, Peter Durie4,6, Joseph Nadeau9, Christine Bear2,7 & Lap-Chee Tsui1,5   Ectopic expression of thyrotropin releasing hormone(TRH) receptors in liver modulates organ function to regulate blood glucose by TRH  p 274 Gerhard Wolff11, Andrea Mastrangeli11, Marcos Heinflink21, Erik Falck-Pedersen31, Marvin C. Gershengorn21 & Ronald G. Crystal11   article   A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element  p 288 Lawrence T. Reiter1,2, Tatsufumi Murakami1, Thearith Koeuth1, Liu Pentao1,3, Donna M. Muzny1,5, Richard A. Gibbs1,5 & James R. Lupski1,2,4,5   Growth retardation and tumour inhibition by BRCA1  p 298 Jeffrey T. Holt1,2, Marilyn E. Thompson1, Csilla Szabo4, Cheryl Robinson-Benion1, Carlos L. Arteaga1,3, Mary-Claire King4 & Roy A. Jensen1,2   BRCA1 is secreted and exhibits properties of a granin  p 303 Roy A. Jensen1,2, Marilyn E. Thompson2, Thomas L. Jetton3, Csilla I. Szabo5, Riet van der Meer1, Bassam Helou1, Steven R. Tronick6, David L. Page1,4, Mary-Claire King5 & Jeffrey T. Holt1,2   articles   Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus  p 309 Catherine M. Phelan1,2, Timothy R. Rebbeck3, Barbara L. Weber3, Peter Devilee4, Martin H. Ruttledge1, Henry T. Lynch5, Gilbert M. Lenoir6, Michael R. Stratton7, Douglas F. Easton8, Bruce A. J. Ponder8, Lisa Cannon-Albright9, Catharina Larsson2 , David E. Goldgar10 & Steven A. Narod1   article   Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm  p 312 B. Jack Longley1,3, Lynda Tyrrell1, Shu-Zhuang Lu1, Yong-Sheng Ma1, Keith Langley1, Tie-gang Ding1, Thomas Duffy1, Peter Jacobs5, Laura H. Tang6 & Irvin Modlin6   A human chondrodysplasia due to a mutation in a TGF-beta superfamily member   p 315 J. Terrig Thomas1, Keming Lin1, Maithily Nandedkar1, Mauricio Camargo2, Jaroslav Cervenka3 & Frank P. Luyten1   Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin  p 318 Farid F. Chehab, Mary E. Lim & Ronghua Lu   articles   CpG islands of chicken are concentrated on microchromosomes  p 321 Heather A. McQueen1, Judy Fantes2, Sally H. Cross1, Victoria H. Clark1, Alan L. Archibald3 & Adrian P. Bird1   Early death due to defective neonatal lung liquid clearance in alphaENaC-deficient mice  p 325 Edith Hummler1, Pierre Barker2, John Gatzy2, Friedrich Beermann3, Chantal Verdumo1, Andrea Schmidt3, Richard Boucher2 & Bernard C. Rossier1   An RNA recognition motif in Wilms' tumour protein (WT1) revealed by structural modelling  p 329 Derek Kennedy1,2, Tracie Ramsdale3, John Mattick1,2 & Melissa Little1   The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds  p 333 S.V. Tavtigian1, J. Simard2, J. Rommens3, F. Couch4, D. Shattuck-Eidens1, S. Neuhausen5, S. Merajver6, S. Thorlacius7, K. Offit8, D. Stoppa-Lyonnet9, C. Belanger2, R. Bell1, S. Berry1, R. Bogden1, Q. Chen1, T. Davis1, M. Dumont2, C. Frye1, T. Hattier1, S. Jammulapati1, T. Janecki1, P. Jiang1, R. Kehrer1, J.-F. Leblanc2, J.T. Mitchell1, J. McArthur-Morrison3, K. Nguyen5, Y. Peng4, C. Samson2, M. Schroeder1, S.C. Snyder1, L. Steele5, M. Stringfellow1, C. Stroup1, B. Swedlund1, J. Swensen5, D. Teng1, A. Thomas1, T. Tran1, T. Tran5, M. Tranchant2, J. Weaver-Feldhaus1, A.K.C. Wong1, H. Shizuya10, J.E. Eyfjord7, L. Cannon-Albright5, F. Labrie2, M.H. Skolnick1,5, B. Weber4, A. Kamb1 & D.E. Goldgar5,11