October 1996

volume 14 Number 2     editorial   It takes a family  p 117   news & views   Imprinting moves to the centre  p 119   Target practice in transgenics  p 121   Mitochondrial DNA gets the drift  p 123   The heritability of happiness  p 125   correspondence   Gene sequence and evolutionary conservation of human SMCY  p 128   Nonsense mutation of leptin receptor in the obese spontaneously hypertensive Koletsky rat   p 130   The importance of being independent: sib pair analysis in diabetes  p 131   Thresholds and sample sizes  p 132   progress   The genetical archaeology of the human genome  p 135 Arndt von Haeseler1, Antti Sajantila2 & Svante P��bo1   articles   Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene  p 141 David C. Whitcomb1,2,3, Michael C. Gorry3,4, Robert A. Preston3,4, William Furey5, Michael J. Sossenheimer1, Charles D. Ulrich6, Stephen P. Martin6, Lawrence K. Gates, Jr7, Stephen T. Amann8, Phillip P. Toskes8, Roger Liddle9, Kevin McGrath9, G. Uomo10, J. C. Post3,11,12 & Garth D. Ehrlich3,4,11,12   Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA  p 146 Jack P. Jenuth1,3, Alan C. Peterson1,3, Katherine Fu1,2 & Eric A. Shoubridge1,2   Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK  p 152 David B. Simon1, Fiona E. Karet1, Juan Rodriguez-Soriano2, Jahed H. Hamdan3, Antonio DiPietro4, Howard Trachtman5, Sami A. Sanjad6 & Richard P. Lifton1   The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase  p 157 Jaime J. Carvajal1, Mark A. Pook1, Maria dos Santos2, Kit Doudney1, Renate Hillermann1, Shane Minogue2, Robert Williamson1, J. Justin Hsuan2 & Susan Chamberlain1   Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene  p 163 B�rbel Dittrich1, Karin Buiting1, Bernd Korn2, Sarah Rickard3, Jessica Buxton3, Shinji Saitoh4,6, Robert D. Nicholls4, Annemarie Poustka2, Andreas Winterpacht5, Bernhard Zabel5 & Bernhard Horsthemke1   letters   An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome  p 171 Izuho Hatada1*, Hirofumi Ohashi2, Yoshimitsu Fukushima3, Yasuhiko Kaneko4, Masahiro Inoue5, Yosuke Komoto5, Akira Okada5, Sachiko Ohishi1, Akira Nabetani1, Hiroko Morisaki1, Masahiro Nakayama6, Norio Niikawa7 & Tsunehiro Mukai1   Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes  p 174 Gary A. Bellus1,2, Karin Gaudenz3, Elaine H. Zackai3, Lorne A. Clarke4, Jinny Szabo1, Clair A. Francomano1,2 & Maximilian Muenke3   A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness  p 177 Hong Jin1, Melanie May2, Lisbeth Tranebj�rg3, Elaine Kendall1, Gumersindo Font�n4, John Jackson5, S.H. Subramony6, Fernando Arena7, Herbert Lubs3,7, Stephanie Smith5, Roger Stevenson2, Charles Schwartz2 & David Vetrie1   Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31�q33   p 181 Sandrine Marquet1, Laurent Abel2, Dominique Hillaire1, H�lia Dessein1, Jorge Kalil3, Josu� Feingold4, Jean Weissenbach5 & Alain J. Dessein1   Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2   p 185 Benjamin B. Roa, Alfred A. Boyd, Kelly Volcik & C. Sue Richards   The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%  p 188 Carole Oddoux1, Jeffery P. Struewing2, C. Mark Clayton1, Susan Neuhausen3, Lawrence C. Brody4, Michael Kaback5, Bruce Haas6, Larry Norton7, Patrick Borgen8, Suresh Jhanwar6, David Goldgar9, Harry Ostrer1 & Kenneth Offit6   Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease  p 191 Alex Odermatt1, Peter E. M. Taschner2, Vijay K. Khanna1, Herman F. M. Busch3, George Karpati4, Charles K. Jablecki5, Martijn H. Breuning2,6 & David H. MacLennan1   Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene  p 195 Vincenzo Nigro1, Eloisa de S� Moreira4, Giulio Piluso1, Mariz Vainzof4, Angela Belsito1, Luisa Politano2, Annibale A. Puca3, Maria Rita Passos-Bueno4 & Mayana Zatz4   Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12  p 199 Jack Satsangi1,2, Miles Parkes1,2, Edouard Louis1,2, Lara Hashimoto2, Norihiro Kato2, Ken Welsh3, Joseph D. Terwilliger2,4, G. Mark Lathrop2, John I. Bell2,5 & Derek P. Jewell1   Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene  p 203 Struan F. A. Grant1, David M. Reid1 , Glen Blake2, Ruth Herd2, Ignac Fogelman2 & Stuart H. Ralston1   Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal   p 206 Eva M. Eicher1, Linda L. Washburn1, Nicholas J. Schork1,2, Barbara K. Lee1, Elaine P. Shown1, Xiaoling Xu3, Robert D. Dredge3, M. Jodeane Pringle3 & David C. Page3   Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development  p 210 Michael J. Donovan1, Rebecca Hahn2, Lino Tessarollo3 & Barbara L. Hempstead2   Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24  p 214 Luba Kalaydjieva1,5, Joachim Hallmayer6, David Chandler5, Alexey Savov1, Amelia Nikolova7, Dora Angelicheva1, Rosalind H. H. King8, Boryana Ishpekova2, K. Honeyman5, Francesc Calafell9, Alexander Shmarov2, Julia Petrova2, Ivailo Turnev2, Anna Hristova2, Momchil Moskov1, Stella Stancheva2, Iva Petkova3, Alan H. Bittles5, Veneta Georgieva4, Lefkos Middleton10 & P.K. Thomas8   Epilepsy and brain abnormalities in mice lacking the Otx1 gene  p 218 Dario Acampora1*, Sylvie Mazan2*, Virginia Avantaggiato1, Paolo Barone3, Francesca Tuorto1, Yvan Lallemand2, Philippe Br�let2 & Antonio Simeone1   Selective ablation of differentiated cells permits isolation of embryonic stem cell lines from murine embryos with a non-permissive genetic background  p 223 Jim McWhir1, Angelika E. Schnieke2, Ray Ansell1, Helen Wallace1, Alan Colman2, Ann R. Scott2 & Alexander J. Kind2   Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton  p 227 Christopher D. Southgate, Athar H. Chishti, Betsy Mitchell, Scott J. Yi & Jiri Palek   Evidence that a locus for familial psoriasis maps to chromosome 4q  p 231 Deborah Matthews1, Lionel Fry2, Anne Powles2, James Weber3, Mark McCarthy1, Elizabeth Fisher1, Kay Davies4 & Robert Williamson5