May 1996

volume 13 Number 1     editorial   Capitalizing on the genome  p 1   news & views   The South African malady  p 7   A paternal wash in Apert sydrome  p 9   DNA helicases: the long unwinding road  p 11   A landmark for orphan genomes?  p 14   Breast cancer susceptibility testing: realities in the post-genomic era  p 16   correspondence   Leptin receptor missense mutation inthe fatty Zucker rat  p 18   Chromosome-size dependent control of meiotic recombination in humans  p 20   Menkes disease mutations and response to early copper histidine treatment  p 21   Internal repeats in the BRCA2 protein sequence  p 22   review   Genetic analysis of ageing: role of oxidative damage and environmental stresses  p 25 George M. Martin1, Steven N. Austad2 & Thomas E. Johnson3   articles   A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)  p 35 A. Meindl1, K. Dry2, K. Herrmann1, F. Manson2, A. Ciccodicola3, A. Edgar2, M.R.S. Carvalho1*, H. Achatz1, H. Hellebrand1, A. Lennon2, C. Migliaccio3, K. Porter2, E. Zrenner4, A. Bird5, M. Jay5, B. Lorenz6, B. Wittwer7, M. D'Urso3, T. Meitinger1 & A. Wright2   Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury  p 43 Andrew. G. Reaume1, Jeffrey L. Elliott2, Eric K. Hoffman1, Neil W. Kowall3, Robert J. Ferrante3, Donald F. Siwek3, Heide M. Wilcox1, Dorothy G. Flood1, M. Flint Beal4, Robert H. Brown Jr.5, Richard W. Scott1 & William D. Snider2   Exclusive paternal origin of new mutations in Apert syndrome  p 48 Dominique M. Moloney1,2, Sarah F. Slaney1,3,4, Michael Oldridge1, Steven A. Wall2,3, Pelle Sahlin5, G�ran Stenman6,7 & Andrew O.M. Wilkie1,3,4   Effective treatment of familial hypercholesterolaemia in the mouse model using adenovirus-mediated transfer of the VLDL receptor gene  p 54 Karen F. Kozarsky1, Karin Jooss1, Mary Donahee1, Jerome F. Strauss III2 & James M. Wilson1,3   Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle  p 63 Karl Poetter1, He Jiang2, Shahin Hassanzadeh1, Stephen R. Master3, Anthony Chang1, Marinos C. Dalakas4, Ivan Rayment5, James R. Sellers2, Lameh Fananapazir1 & Neal D. Epstein1   A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome  p 70 Elena Maestrini1, Anthony P. Monaco1, John A. McGrath3, Akemi Ishida-Yamamoto4, Charles Camisa5, Alain Hovnanian1, Daniel E. Weeks1,2, Mark Lathrop1, Jouni Uitto3 & Angela M. Christiano3   High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region  p 78 David Kipling1, Eduardo C. Salido2,3, Larry J. Shapiro2 & Howard J. Cooke1   Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts)  p 83 Eduardo C. Salido1,3, Xiao M. Li1, Pauline H. Yen2, Natalia Martin3, Thuluvancheri K. Mohandas2 & Larry J. Shapiro1   A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1�b1 using RLGS spot-mapping  p 87 Yasushi Okazaki1, Hisato Okuizumi1, Tomoya Ohsumi1, Osamu Nomura1, Shuji Takada1, Mamoru Kamiya1, Nobuya Sasaki1, Yoichi Matsuda2, Masahiko Nishimura3, Osamu Tagaya4, Masami Muramatsu1 & Yoshihide Hayashizaki1   Epigenetic modifications during oocyte growth correlates with extended parthenogenetic development in the mouse   p 91 Tomohiro Kono1, Yayoi Obata1, Tomomi Yoshimzu1, Tatsuo Nakahara1 & John Carroll2,3   A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria  p 95 Peter N. Meissner1,2, Tamara A. Dailey2, Richard J. Hift1, Mel Ziman1, Anne V. Corrigall1, Andrew G. Roberts3, Doreen M. Meissner1, Ralph E. Kirsch1 & Harry A. Dailey2   Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12  p 98 Herbert Schuster1, Thomas F. Wienker1, Sylvia B�hring1, Nihat Bilginturan2, Hakan R. Toka1, Heidemarie Neitzel1, Eva Jeschke1, Okan Toka1, Dennis Gilbert1, Adam Lowe1, J�rg Ott1, Hermann Haller1 & Friedrich C. Luft1   The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1�q22.3  p 101 Garth A. Nicholson, Jennifer L. Dawkins, Ian P. Blair, Marina L. Kennerson, Melissa J. Gordon, Annia K. Cherryson, Janet Nash & Tessy Bananis   Identification of the gene FMR2, associated with FRAXE mental retardation  p 105 Jozef Gecz1,2, Agi K. Gedeon1,4, Grant R. Sutherland1,3 & John C. Mulley1,4   Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island  p 109 Yanghong Gu, Ying Shen, Richard A. Gibbs & David L. Nelson   Localization of the gene for Cowden disease to chromosome 10q22�23  p 114 M.R. Nelen1, G.W. Padberg1, E.A.J. Peeters2, A.Y. Lin3, B. van den Helm4, R.R. Frants5, V. Coulon6, A.M. Goldstein3, M.M.M van Reen4, D.F. Easton7, R.A. Eeles8, S. Hodgson9, J.J. Mulvihill10, V.A. Murday11, M.A. Tucker12, E.C.M. Mariman4, T.M. Starink13, B.A.J. Ponder14, H.H. Ropers4, H. Kremer4, M. Longy6 & C. Eng14,15   A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes  p 117 Steinunn Thorlacius1, Gudridur Olafsdottir2, Laufey Tryggvadottir2, Susan Neuhausen3, Jon G. Jonasson4, Sean V. Tavtigian5, Hrafn Tulinius2, Helga M. �gmundsdottir1 & Jorunn E. Eyfj�rd1   Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families  p 120 Catherine M. Phelan1,2,3, Johnathan M. Lancaster4, Patricia Tonin1, Curtis Gumbs3, Charles Cochran4, Ron Carter5, Parviz Ghadirian6, Chantal Perret6, Roxana Moslehi7, France Dion1, Marie-Claude Faucher1, Kiran Dole1, Sepideh Karimi1, Willliam Foulkes1 , Hafida Lounis8, Ellen Warner9, Paul Goss10, David Anderson11, Catharina Larsson2, Steven A. Narod12 & P. Andrew Futreal3   BRCA2 germline mutations in male breast cancer cases and breast cancer families  p 123 Fergus J. Couch1, Linda M. Farid2, Michelle L. DeShano1, Sean V. Tavtigian3, Kathleen Calzone1, Lisa Campeau1, Yi Peng1, Bert Bogden3, Qian Chen3, Susan Neuhausen4, Donna Shattuck-Eidens3, Andrew K. Godwin5, Mary Daly5, Diane M. Radford6, Scott Sedlacek7, Johanna Rommens8, Jacques Simard9, Judy Garber10, Sofia Merajver11 & Barbara L. Weber1,12   Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer  p 126 Susan Neuhausen5, Teresa Gilewski3, Larry Norton3, Thao Tran5, Peter McGuire1, Jeff Swensen5, Heather Hampel1, Patrick Borgen4, Karen Brown1, Mark Skolnick6,7, Donna Shattuck-Eidens6, Suresh Jhanwar2, David Goldgar7 & Kenneth Offit1