Human Molecular Genetics

ARTICLES:

Suzanne M. Cutts, Kerry J. Fowler, Benjamin T. Kile, Linda L. P. Hii, Rachael A. O’Dowd, Damien F. Hudson, Richard Saffery, Paul Kalitsis, Elizabeth Earle, and K. H. A. Choo

Defective chromosome segregation, microtubule bundling and nuclear bridging in inner centromere protein gene (Incenp)-disrupted mice
Hum. Mol. Genet. 1999 8: 1145-1155; doi:10.1093/hmg/8.7.1145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa Edelmann, Raj K. Pandita, Elizabeth Spiteri, Birgit Funke, Rosalie Goldberg, Nallasivam Palanisamy, R. S. K. Chaganti, Ellen Magenis, Robert J. Shprintzen, and Bernice E. Morrow

A common molecular basis for rearrangement disorders on chromosome 22q11
Hum. Mol. Genet. 1999 8: 1157-1167; doi:10.1093/hmg/8.7.1157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bernd O. Evert, Ullrich Wüllner, Jörg B. Schulz, Michael Weller, Peter Groscurth, Yvon Trottier, Alexis Brice, and Thomas Klockgether

High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells
Hum. Mol. Genet. 1999 8: 1169-1176; doi:10.1093/hmg/8.7.1169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Umrao R. Monani, Christian L. Lorson, D. William Parsons, Thomas W. Prior, Elliot J. Androphy, Arthur H. M. Burghes, and John D. McPherson

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
Hum. Mol. Genet. 1999 8: 1177-1183; doi:10.1093/hmg/8.7.1177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kinya Ishikawa, Hiroto Fujigasaki, Hironao Saegusa, Kiyoshi Ohwada, Tsuneo Fujita, Hiroyuki Iwamoto, Yasuko Komatsuzaki, Shuta Toru, Hideyuki Toriyama, Masahiko Watanabe, Norio Ohkoshi, Shin’ichi Shoji, Ichiro Kanazawa, Tsutomu Tanabe, and Hidehiro Mizusawa

Abundant expression and cytoplasmic aggregations of 1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
Hum. Mol. Genet. 1999 8: 1185-1193; doi:10.1093/hmg/8.7.1185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bijayeswar Vaidya, Helen Imrie, Petros Perros, Eric T. Young, William F. Kelly, David Carr, David M. Large, Anthony D. Toft, Mark I. McCarthy, Pat Kendall-Taylor, and Simon H. S. Pearce

The cytotoxic T lymphocyte antigen-4 is a major Graves’ disease locus
Hum. Mol. Genet. 1999 8: 1195-1199; doi:10.1093/hmg/8.7.1195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Norimitsu Inoue, Karl D. Hess, Randall W. Moreadith, Laura L. Richardson, Mary Ann Handel, Mark L. Watson, and Andrew R. Zinn

New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis
Hum. Mol. Genet. 1999 8: 1201-1207; doi:10.1093/hmg/8.7.1201 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kohzoh Mitsuya, Makiko Meguro, Maxwell P. Lee, Motonobu Katoh, Thomas C. Schulz, Hiroyuki Kugoh, Mitsuaki A. Yoshida, Norio Niikawa, Andrew P. Feinberg, and Mitsuo Oshimura

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
Hum. Mol. Genet. 1999 8: 1209-1217; doi:10.1093/hmg/8.7.1209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John Strasswimmer, Christian L. Lorson, David E. Breiding, Jason J. Chen, Than Le, Arthur H. M. Burghes, and Elliot J. Androphy

Identification of survival motor neuron as a transcriptional activator-binding protein
Hum. Mol. Genet. 1999 8: 1219-1226; doi:10.1093/hmg/8.7.1219 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

He Li, Shi-Hua Li, Anna L. Cheng, Laura Mangiarini, Gillian P. Bates, and Xiao-Jiang Li

Ultrastructural localization and progressive formation of neuropil aggregates in Huntington’s disease transgenic mice
Hum. Mol. Genet. 1999 8: 1227-1236; doi:10.1093/hmg/8.7.1227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena Maestrini, Bernhard P. Korge, Juan Ocaña-Sierra, Elisa Calzolari, Stefano Cambiaghi, Pat M. Scudder, Alain Hovnanian, Anthony P. Monaco, and Colin S. Munro

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families
Hum. Mol. Genet. 1999 8: 1237-1243; doi:10.1093/hmg/8.7.1237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura E. Warner, John Svaren, Jeffrey Milbrandt, and James R. Lupski

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
Hum. Mol. Genet. 1999 8: 1245-1251; doi:10.1093/hmg/8.7.1245 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Johannes F. Coy, Zdenek Sedlacek, Dietmar Bächner, Hajo Delius, and Annemarie Poustka

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
Hum. Mol. Genet. 1999 8: 1253-1262; doi:10.1093/hmg/8.7.1253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cécile Dumanchin, Christian Czech, Dominique Campion, Marie Hélène Cuif, Thomas Poyot, Cosette Martin, Françoise Charbonnier, Bruno Goud, Laurent Pradier, and Thierry Frebourg

Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport
Hum. Mol. Genet. 1999 8: 1263-1269; doi:10.1093/hmg/8.7.1263 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

James Wilson, Wendy Putt, Cecilia Jimenez, and Yvonne H. Edwards

Up71 and Up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin
Hum. Mol. Genet. 1999 8: 1271-1278; doi:10.1093/hmg/8.7.1271 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennifer T. Calvert, Travis J. Riney, Christopher D. Kontos, Eugene H. Cha, Victor G. Prieto, Christopher R. Shea, Jonathan N. Berg, Norman C. Nevin, Sheila A. Simpson, Krystyna A. Pasyk, Marcy C. Speer, Kevin G. Peters, and Douglas A. Marchuk

Allelic and locus heterogeneity in inherited venous malformations
Hum. Mol. Genet. 1999 8: 1279-1289; doi:10.1093/hmg/8.7.1279 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sophie Valleix, Jean-Claude Jeanny, Susan Elsevier, Rajiv L. Joshi, Patricia Fayet, Danielle Bucchini, and Marc Delpech

Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice
Hum. Mol. Genet. 1999 8: 1291-1301; doi:10.1093/hmg/8.7.1291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael D. Willcutts, Eric Felner, and Perrin C. White

Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin
Hum. Mol. Genet. 1999 8: 1303-1307; doi:10.1093/hmg/8.7.1303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Niamh McNally, Paul Kenna, Marian M. Humphries, Audrey H. Hobson, Noheed W. Khan, Ron A Bush, Paul A. Sieving, Peter Humphries, and G. Jane Farrar

Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene
Hum. Mol. Genet. 1999 8: 1309-1312; doi:10.1093/hmg/8.7.1309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jonathan Gilley and Mike Fried

Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes
Hum. Mol. Genet. 1999 8: 1313-1320; doi:10.1093/hmg/8.7.1313 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul J. Coucke, Peter Van Hauwe, Philip M. Kelley, Henricus Kunst, Isabelle Schatteman, Désirée Van Velzen, Johan Meyers, Robbert J. Ensink, Margriet Verstreken, Frank Declau, Henri Marres, Kumar Kastury, Shalender Bhasin, Wyman T. McGuirt, Richard J. H. Smith, Cor W. R. J. Cremers, Paul Van de Heyning, Patrick J. Willems, Shelley D. Smith, and Guy Van Camp

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
Hum. Mol. Genet. 1999 8: 1321-1328; doi:10.1093/hmg/8.7.1321 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paula Salmikangas, Olli-Matti Mykkänen, Mikaela Grönholm, Leena Heiska, Juha Kere, and Olli Carpén

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
Hum. Mol. Genet. 1999 8: 1329-1336; doi:10.1093/hmg/8.7.1329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Diem Dao, Colum P. Walsh, Luwa Yuan, Dmitri Gorelov, Lin Feng, Terrence Hensle, Perry Nisen, Darrell J. Yamashiro, Timothy H. Bestor, and Benjamin Tycko

Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms’ tumorigenesis and methylation hyper-dependence of H19 imprinting
Hum. Mol. Genet. 1999 8: 1337-1352; doi:10.1093/hmg/8.7.1337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 1353; doi:10.1093/hmg/8.7.1353 [PDF] [Request Permissions]  

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