Human Molecular Genetics

ARTICLES:

Stefan Hannus, Dirk Bühler, Marta Romano, Bertrand Seraphin, and Utz Fischer

The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1
Hum. Mol. Genet. 2000 9: 663-674; doi:10.1093/hmg/9.5.663 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicholas Owen, Claudette L. Doe, Jane Mellor, and Kay E. Davies

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
Hum. Mol. Genet. 2000 9: 675-684; doi:10.1093/hmg/9.5.675 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J.P. Venables, D.J. Elliott, O.V. Makarova, E.M. Makarov, H.J. Cooke, and I.C. Eperon

RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2ß and affect splicing
Hum. Mol. Genet. 2000 9: 685-694; doi:10.1093/hmg/9.5.685 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark Clement-Jones, Simone Schiller, Ercole Rao, Rüdiger J. Blaschke, Aimee Zuniga, Rolf Zeller, Stephen C. Robson, Gerhard Binder, Ian Glass, Tom Strachan, Susan Lindsay, and Gudrun A. Rappold

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
Hum. Mol. Genet. 2000 9: 695-702; doi:10.1093/hmg/9.5.695 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tamar Sapir, David Horesh, Michal Caspi, Roee Atlas, Harold A. Burgess, Sharon Grayer Wolf, Fiona Francis, Jamel Chelly, Michael Elbaum, Shmuel Pietrokovski, and Orly Reiner

Doublecortin mutations cluster in evolutionarily conserved functional domains
Hum. Mol. Genet. 2000 9: 703-712; doi:10.1093/hmg/9.5.703 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John D.H. Stead and Alec J. Jeffreys

Allele diversity and germline mutation at the insulin minisatellite
Hum. Mol. Genet. 2000 9: 713-723; doi:10.1093/hmg/9.5.713 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alec J. Jeffreys, Alistair Ritchie, and Rita Neumann

High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot
Hum. Mol. Genet. 2000 9: 725-733; doi:10.1093/hmg/9.5.725 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Ronald E. Haskell, Carrie J. Carr, David A. Pearce, Michael J. Bennett, and Beverly L. Davidson

Batten disease: evaluation of CLN3 mutations on protein localization and function
Hum. Mol. Genet. 2000 9: 735-744; doi:10.1093/hmg/9.5.735 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andreas Lux, Carol J. Gallione, and Douglas A. Marchuk

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms
Hum. Mol. Genet. 2000 9: 745-755; doi:10.1093/hmg/9.5.745 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sabine Müller, Dirk van den Boom, Dorothea Zirkel, Hubert Köster, Frank Berthold, Manfred Schwab, Manfred Westphal, and Walter Zumkeller

Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumors
Hum. Mol. Genet. 2000 9: 757-763; doi:10.1093/hmg/9.5.757 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiao-Ping Zhou, Debbie J. Marsh, Heather Hampel, John B. Mulliken, Oliver Gimm, and Charis Eng

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis
Hum. Mol. Genet. 2000 9: 765-768; doi:10.1093/hmg/9.5.765 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa M. Guay-Woodford, William J. Green, J. Russell Lindsey, and David R. Beier

Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated
Hum. Mol. Genet. 2000 9: 769-778; doi:10.1093/hmg/9.5.769 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Diego Lorenzetti, Kei Watase, Bisong Xu, Martin M. Matzuk, Harry T. Orr, and Huda Y. Zoghbi

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
Hum. Mol. Genet. 2000 9: 779-785; doi:10.1093/hmg/9.5.779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christin M. Coffeen, Catherine E. McKenna, Arnulf H. Koeppen, Nikki M. Plaster, Nicholas Maragakis, Jason Mihalopoulos, John D. Schwankhaus, Kevin M. Flanigan, Ronald G. Gregg, Louis J. Ptácek, and Ying-Hui Fu

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
Hum. Mol. Genet. 2000 9: 787-793; doi:10.1093/hmg/9.5.787 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michaela Jaksch, Isla Ogilvie, Jianbo Yao, Gisela Kortenhaus, Hans-Georg Bresser, Klaus-Dieter Gerbitz, and Eric A. Shoubridge

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
Hum. Mol. Genet. 2000 9: 795-801; doi:10.1093/hmg/9.5.795 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mimoun Azzouz, Andreas Hottinger, Jean-Charles Paterna, Anne D. Zurn, Patrick Aebischer, and Hansruedi Büeler

Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2
Hum. Mol. Genet. 2000 9: 803-811; doi:10.1093/hmg/9.5.803 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vincent El Ghouzzi, Laurence Legeai-Mallet, Sandra Aresta, Catherine Benoist, Arnold Munnich, Jean de Gunzburg, and Jacky Bonaventure

Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location
Hum. Mol. Genet. 2000 9: 813-819; doi:10.1093/hmg/9.5.813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Julie M. Jones, Jian-Dong Huang, Valerie Mermall, Bruce A. Hamilton, Mark S. Mooseker, Andrew Escayg, Neal G. Copeland, Nancy A. Jenkins, and Miriam H. Meisler

The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Hum. Mol. Genet. 2000 9: 821-828; doi:10.1093/hmg/9.5.821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H.N. Lim, H. Chen, S. McBride, A.M. Dunning, R.M. Nixon, I.A. Hughes, and J.R. Hawkins

Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males
Hum. Mol. Genet. 2000 9: 829-834; doi:10.1093/hmg/9.5.829 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bruce E. Hayward and David T. Bonthron

An imprinted antisense transcript at the human GNAS1 locus
Hum. Mol. Genet. 2000 9: 835-841; doi:10.1093/hmg/9.5.835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Derek W. Morris, Lucie Robinson, Darko Turic, Mary Duke, Victoria Webb, Charis Milham, Elizabeth Hopkin, Kirsty Pound, Shamira Fernando, Martha Easton, Marian Hamshere, Nigel Williams, Peter McGuffin, Jim Stevenson, Michael Krawczak, Michael J. Owen, Michael C. O’Donovan, and Julie Williams

Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q
Hum. Mol. Genet. 2000 9: 843-848; doi:10.1093/hmg/9.5.843 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tony Frugier, Francesco D. Tiziano, Carmen Cifuentes-Diaz, Pierre Miniou, Natacha Roblot, Andrée Dierich, Marianne Le Meur, and Judith Melki

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
Hum. Mol. Genet. 2000 9: 849-858; doi:10.1093/hmg/9.5.849 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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