Human Molecular Genetics

REPORTS:

Brendan J. Battersby and Eric A. Shoubridge

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication
Hum. Mol. Genet. 2001 10: 2469-2479; doi:10.1093/hmg/10.22.2469 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martin Stanulla, Pradheepkumar Chhalliyil, Junjie Wang, Sheila N. Jani-Sait, and Peter D. Aplan

Mechanisms of MLL gene rearrangement: site-specific DNA cleavage within the breakpoint cluster region is independent of chromosomal context
Hum. Mol. Genet. 2001 10: 2481-2491; doi:10.1093/hmg/10.22.2481 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nahid G. Robertson, Barbara L. Resendes, Jason S. Lin, Charles Lee, Jon C. Aster, Joe C. Adams, and Cynthia C. Morton

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9
Hum. Mol. Genet. 2001 10: 2493-2500; doi:10.1093/hmg/10.22.2493 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Irina N. Bespalova, Guy Van Camp, Steven J.H. Bom, David J. Brown, Kim Cryns, Andrew T. DeWan, Ayse E. Erson, Kris Flothmann, Henricus P.M. Kunst, Purnima Kurnool, Theru A. Sivakumaran, Cor W.R.J. Cremers, Suzanne M. Leal, Margit Burmeister, and Marci M. Lesperance

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
Hum. Mol. Genet. 2001 10: 2501-2508; doi:10.1093/hmg/10.22.2501 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Terry-Lynn Young, Elizabeth Ives, Eric Lynch, Richard Person, Stephanie Snook, Linda MacLaren, Tracey Cator, Anne Griffin, Bridget Fernandez, Ming K. Lee, and Mary-Claire King

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
Hum. Mol. Genet. 2001 10: 2509-2514; doi:10.1093/hmg/10.22.2509 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wojtek Auerbach, Marc S. Hurlbert, Paige Hilditch-Maguire, Youssef Zaim Wadghiri, Vanessa C. Wheeler, Sara I. Cohen, Alexandra L. Joyner, Marcy E. MacDonald, and Daniel H. Turnbull

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin
Hum. Mol. Genet. 2001 10: 2515-2523; doi:10.1093/hmg/10.22.2515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian Lesuisse, Guilian Xu, Jeffery Anderson, Molly Wong, Joanna Jankowsky, Greg Holtz, Victoria Gonzalez, Philip C. Y. Wong, Donald L. Price, Fai Tang, Steve Wagner, and David R. Borchelt

Hyper-expression of human apolipoprotein E4 in astroglia and neurons does not enhance amyloid deposition in transgenic mice
Hum. Mol. Genet. 2001 10: 2525-2537; doi:10.1093/hmg/10.22.2525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bernard C. Broughton, Mark Berneburg, Heather Fawcett, Elaine M. Taylor, Colin F. Arlett, Tiziana Nardo, Miria Stefanini, Emory Menefee, Vera H. Price, Sophie Queille, Alain Sarasin, Elisabeth Bohnert, Jean Krutmann, Rosemarie Davidson, Kenneth H. Kraemer, and Alan R. Lehmann

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene
Hum. Mol. Genet. 2001 10: 2539-2547; doi:10.1093/hmg/10.22.2539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Birgit Funke, Jonathan A. Epstein, Lazaros K. Kochilas, Min Min Lu, Raj K. Pandita, Jun Liao, Ralf Bauerndistel, Tanja Schüler, Hubert Schorle, M. Christian Brown, Joe Adams, and Bernice E. Morrow

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
Hum. Mol. Genet. 2001 10: 2549-2556; doi:10.1093/hmg/10.22.2549 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Swaroop Aradhya, Tiziana Bardaro, Petra Galgóczy, Takanori Yamagata, Teresa Esposito, Henry Patlan, Alfredo Ciccodicola, Arnold Munnich, Sue Kenwrick, Matthias Platzer, Michele D’Urso, and David L. Nelson

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
Hum. Mol. Genet. 2001 10: 2557-2567; doi:10.1093/hmg/10.22.2557 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. Zander, J. Takahashi, K. H. El Hachimi, H. Fujigasaki, V. Albanese, A. S. Lebre, G. Stevanin, C. Duyckaerts, and A. Brice

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
Hum. Mol. Genet. 2001 10: 2569-2579; doi:10.1093/hmg/10.22.2569 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicole Monnier, Norma Beatriz Romero, Joëlle Lerale, Pierre Landrieu, Yves Nivoche, Michel Fardeau, and Joël Lunardi

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
Hum. Mol. Genet. 2001 10: 2581-2592; doi:10.1093/hmg/10.22.2581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennifer N. Murdoch, Kit Doudney, Caroline Paternotte, Andrew J. Copp, and Philip Stanier

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
Hum. Mol. Genet. 2001 10: 2593-2601; doi:10.1093/hmg/10.22.2593 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigenda
Hum. Mol. Genet. 2001 10: 2603; doi:10.1093/hmg/10.22.2603 [PDF] [Request Permissions]  

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