Human Molecular Genetics

ARTICLES:

Sarah Porteous, Elena Torban, Nam-Pyo Cho, Heather Cunliffe, Lin Chua, Les McNoe, Teresa Ward, Carolina Souza, Patricia Gus, Roberto Giugliani, Tadashi Sato, Kankatsu Yun, Jack Favor, Marilyn Sicotte, Paul Goodyer, and Michael Eccles

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2^1Neu +/– mutant mice
Hum. Mol. Genet. 2000 9: 1-11; doi:10.1093/hmg/9.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Lawrence Marsh, Heli Walker, Heidi Theisen, Ya-Zhen Zhu, Tom Fielder, Judy Purcell, and Leslie M. Thompson

Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
Hum. Mol. Genet. 2000 9: 13-25; doi:10.1093/hmg/9.1.13 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marion A. Maw, Denis Corbeil, Julia Koch, Andrea Hellwig, Jane C. Wilson-Wheeler, Robyn J. Bridges, Govindasamy Kumaramanickavel, Sheila John, Derek Nancarrow, Katja Röper, Anja Weigmann, Wieland B. Huttner, and Michael J. Denton

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
Hum. Mol. Genet. 2000 9: 27-34; doi:10.1093/hmg/9.1.27 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael O. Dorschner, Virginia P. Sybert, Molly Weaver, Beth A. Pletcher, and Karen Stephens

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
Hum. Mol. Genet. 2000 9: 35-46; doi:10.1093/hmg/9.1.35 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Silvia Pagliardini, Alessio Giavazzi, Veronica Setola, Carlotta Lizier, Monica Di Luca, Silvia DeBiasi, and Giorgio Battaglia

Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
Hum. Mol. Genet. 2000 9: 47-56; doi:10.1093/hmg/9.1.47 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Jean-Charles Lambert, Thierry Brousseau, Véronique Defosse, Alun Evans, Dominique Arveiler, Jean-Bernard Ruidavets, Bernadette Haas, Jean-Pierre Cambou, Gérald Luc, Pierre Ducimetière, François Cambien, Marie-Christine Chartier-Harlin, and Philippe Amouyel

Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations—the ECTIM Study
Hum. Mol. Genet. 2000 9: 57-61; doi:10.1093/hmg/9.1.57 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xue-Zhong Liu, Xia Juan Xia, Li Rong Xu, Arti Pandya, Chuan Yu Liang, Susan H. Blanton, Steve D.M. Brown, Karen P. Steel, and Walter E. Nance

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
Hum. Mol. Genet. 2000 9: 63-67; doi:10.1093/hmg/9.1.63 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Toshihiro Yoshizawa, Yasuaki Yamagishi, Naoteru Koseki, Jun Goto, Hideaki Yoshida, Futoshi Shibasaki, Shin’ichi Shoji, and Ichiro Kanazawa

Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado–Joseph disease gene product with an expanded polyglutamine stretch
Hum. Mol. Genet. 2000 9: 69-78; doi:10.1093/hmg/9.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Deborah Phippard, Yvonne Boyd, Vivienne Reed, Graham Fisher, Walter K. Masson, Edward P. Evans, James C. Saunders, and E. Bryan Crenshaw III

The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear
Hum. Mol. Genet. 2000 9: 79-85; doi:10.1093/hmg/9.1.79 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Nakayama, Kenzo Hamano, Nobuaki Iwasaki, Satoko Nakahara, Yumi Horigome, Hisako Saitoh, Takeshi Aoki, Takako Maki, Masahiro Kikuchi, Takuo Migita, Tatsuyuki Ohto, Yukako Yokouchi, Ryuta Tanaka, Makoto Hasegawa, Akira Matsui, Hideo Hamaguchi, and Tadao Arinami

Significant evidence for linkage of febrile seizures to chromosome 5q14–q15
Hum. Mol. Genet. 2000 9: 87-91; doi:10.1093/hmg/9.1.87 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bala S. Balakumaran, Catherine H. Freudenreich, and Virginia A. Zakian

CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae
Hum. Mol. Genet. 2000 9: 93-100; doi:10.1093/hmg/9.1.93 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Lloyd Holder, Jr, Nancy F. Butte, and Andrew R. Zinn

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
Hum. Mol. Genet. 2000 9: 101-108. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Henian Cao and Robert A. Hegele

Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
Hum. Mol. Genet. 2000 9: 109-112; doi:10.1093/hmg/9.1.109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juliann E. Horvath, Luigi Viggiano, Brendan J. Loftus, Mark D. Adams, Nicoletta Archidiacono, Mariano Rocchi, and Evan E. Eichler

Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11
Hum. Mol. Genet. 2000 9: 113-123; doi:10.1093/hmg/9.1.113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kazuhisa Takeda, Clifford Takemoto, Ichiro Kobayashi, Atsushi Watanabe, Yoshitaka Nobukuni, David E. Fisher, and Masayoshi Tachibana

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance
Hum. Mol. Genet. 2000 9: 125-132; doi:10.1093/hmg/9.1.125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Silvia Simeoni, Michael A. Mancini, David L. Stenoien, Marco Marcelli, Nancy L. Weigel, Mariarosa Zanisi, Luciano Martini, and Angelo Poletti

Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract
Hum. Mol. Genet. 2000 9: 133-144; doi:10.1093/hmg/9.1.133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Hum. Mol. Genet. 2000 9: 145; doi:10.1093/hmg/9.1.145 [PDF] [Request Permissions]  

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