Human Molecular Genetics

ARTICLES:

R. Scott Hansen, Reinhard Stöger, Cisca Wijmenga, Ann M. Stanek, Theresa K. Canfield, Ping Luo, Maria R. Matarazzo, Maurizio D’Esposito, Robert Feil, Giorgio Gimelli, Corry M.R. Weemaes, Charles D. Laird, and Stanley M. Gartler

Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
Hum. Mol. Genet. 2000 9: 2575-2587; doi:10.1093/hmg/9.18.2575 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Samir Kumar-Singh, Chris De Jonghe, Marc Cruts, Reinhold Kleinert, Rong Wang, Marc Mercken, Bart De Strooper, Hugo Vanderstichele, Ann Löfgren, Inge Vanderhoeven, Hubert Backhovens, Eugeen Vanmechelen, Peter M. Kroisel, and Christine Van Broeckhoven

Nonfibrillar diffuse amyloid deposition due to a ₄₂-secretase site mutation points to an essential role for N-truncated Aß₄₂ in Alzheimer’s disease
Hum. Mol. Genet. 2000 9: 2589-2598; doi:10.1093/hmg/9.18.2589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicole Monnier, Norma Beatriz Romero, Joëlle Lerale, Yves Nivoche, Dong Qi, David H. MacLennan, Michel Fardeau, and Joël Lunardi

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
Hum. Mol. Genet. 2000 9: 2599-2608; doi:10.1093/hmg/9.18.2599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gertraud Unterrainer, Brunhilde Molzer, Sonja Forss-Petter, and Johannes Berger

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy
Hum. Mol. Genet. 2000 9: 2609-2616; doi:10.1093/hmg/9.18.2609 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Lynn Pritchard, Jackie A. Sloane-Stanley, Jackie A. Sharpe, Richard Aspinwall, Weining Lu, Veronica Buckle, Lana Strmecki, Denise Walker, Christopher J. Ward, Charles E. Alpers, Jing Zhou, William G. Wood, and Peter C. Harris

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype
Hum. Mol. Genet. 2000 9: 2617-2627; doi:10.1093/hmg/9.18.2617 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yoshihiro Miyamoto, Yoshihiko Saito, Masafumi Nakayama, Yukio Shimasaki, Toshihiro Yoshimura, Michihiro Yoshimura, Masaki Harada, Noboru Kajiyama, Ichiro Kishimoto, Koichiro Kuwahara, Jun Hino, Emiko Ogawa, Ichiro Hamanaka, Shigeki Kamitani, Nobuki Takahashi, Rika Kawakami, Kenji Kangawa, Hirofumi Yasue, and Kazuwa Nakao

Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a –786TC mutation associated with coronary spastic angina
Hum. Mol. Genet. 2000 9: 2629-2637; doi:10.1093/hmg/9.18.2629 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jun Okabe, Akiko Eguchi, Akinori Masago, Takao Hayakawa, and Mahito Nakanishi

TRF1 is a critical trans-acting factor required for de novo telomere formation in human cells
Hum. Mol. Genet. 2000 9: 2639-2650; doi:10.1093/hmg/9.18.2639 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christoph Grunau, Winfried Hindermann, and André Rosenthal

Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes
Hum. Mol. Genet. 2000 9: 2651-2663; doi:10.1093/hmg/9.18.2651 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Johan P. de Winter, Laura van der Weel, Jan de Groot, Stacie Stone, Quinten Waisfisz, Fré Arwert, Rik J. Scheper, Frank A.E. Kruyt, Maureen E. Hoatlin, and Hans Joenje

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG
Hum. Mol. Genet. 2000 9: 2665-2674; doi:10.1093/hmg/9.18.2665 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Emma J. Rogers, Angela C. Shone, Santos Alonso, Celia A. May, and John A.L. Armour

Integrated analysis of sequence evolution and population history using hypervariable compound haplotypes
Hum. Mol. Genet. 2000 9: 2675-2681; doi:10.1093/hmg/9.18.2675 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sarah J. Tabrizi, Michael Orth, J. Max Wilkinson, Jan-Willem Taanman, Thomas T. Warner, J. Mark Cooper, and Anthony H.V. Schapira

Expression of mutant -synuclein causes increased susceptibility to dopamine toxicity
Hum. Mol. Genet. 2000 9: 2683-2689; doi:10.1093/hmg/9.18.2683 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sabine Engemann, Martin Strödicke, Martina Paulsen, Olivia Franck, Richard Reinhardt, Natasha Lane, Wolf Reik, and Jörn Walter

Sequence and functional comparison in the Beckwith–Wiedemann region: implications for a novel imprinting centre and extended imprinting
Hum. Mol. Genet. 2000 9: 2691-2706; doi:10.1093/hmg/9.18.2691 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andrea L. Bacon, Susan M. Farrington, and Malcolm G. Dunlop

Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cells
Hum. Mol. Genet. 2000 9: 2707-2713; doi:10.1093/hmg/9.18.2707 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Erik. J. Bonten, Willem F. Arts, Michael Beck, A. Covanis, Maria A. Donati, Rossella Parini, Enrico Zammarchi, and Alessandra d’Azzo

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis
Hum. Mol. Genet. 2000 9: 2715-2725; doi:10.1093/hmg/9.18.2715 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroki Kurahashi, Tamim H. Shaikh, and Beverly S. Emanuel

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint
Hum. Mol. Genet. 2000 9: 2727-2732; doi:10.1093/hmg/9.18.2727 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Valeria Tiranti, Paola Corona, Marilena Greco, Jan-Willem Taanman, Franco Carrara, Eleonora Lamantea, Leo Nijtmans, Graziella Uziel, and Massimo Zeviani

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
Hum. Mol. Genet. 2000 9: 2733-2742; doi:10.1093/hmg/9.18.2733 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martijn S. Scheffers, Paola van der Bent, Frans Prins, Lia Spruit, Martijn H. Breuning, Sergey V. Litvinov, Emile de Heer, and Dorien J.M. Peters

Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells
Hum. Mol. Genet. 2000 9: 2743-2750; doi:10.1093/hmg/9.18.2743 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ritva Haataja, Mika Rämet, Riitta Marttila, and Mikko Hallman

Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome
Hum. Mol. Genet. 2000 9: 2751-2760; doi:10.1093/hmg/9.18.2751 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elizabeth E. Norgett, Sarah J. Hatsell, Luis Carvajal-Huerta, Juan-Carlos Ruiz Cabezas, John Common, Patricia E. Purkis, Neil Whittock, Irene M. Leigh, Howard P. Stevens, and David P. Kelsell

Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
Hum. Mol. Genet. 2000 9: 2761-2766; doi:10.1093/hmg/9.18.2761 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Irina V. Kovtun, Terrence M. Therneau, and Cynthia T. McMurray

Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington’s disease gene
Hum. Mol. Genet. 2000 9: 2767-2775; doi:10.1093/hmg/9.18.2767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigenda
Hum. Mol. Genet. 2000 9: 2777; doi:10.1093/hmg/9.18.2777 [PDF] [Request Permissions]  

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