Human Molecular Genetics

ARTICLES:

Jessie Theuns, Jurgen Del-Favero, Bart Dermaut, Cornelia M. van Duijn, Hubert Backhovens, Marleen Van den Broeck, Sally Serneels, Ellen Corsmit, Christine Van Broeckhoven, and Marc Cruts

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer’s disease and variable expression
Hum. Mol. Genet. 2000 9: 325-331; doi:10.1093/hmg/9.3.325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Umrao R. Monani, Michael Sendtner, Daniel D. Coovert, D. William Parsons, Catia Andreassi, Thanh T. Le, Sibylle Jablonka, Berthold Schrank, Wilfred Rossol, Thomas W. Prior, Glenn E. Morris, and Arthur H.M. Burghes

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn^–/– mice and results in a mouse with spinal muscular atrophy
Hum. Mol. Genet. 2000 9: 333-339; doi:10.1093/hmg/9.3.333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sibylle Jablonka, Bertold Schrank, Martina Kralewski, Wilfried Rossoll, and Michael Sendtner

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III
Hum. Mol. Genet. 2000 9: 341-346; doi:10.1093/hmg/9.3.341 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Rosane Sturzeneker, Roberta A.U. Bevilacqua, Luciana A. Haddad, Andrew J.G. Simpson, and Sérgio D.J. Pena

Microsatellite instability in tumors as a model to study the process of microsatellite mutations
Hum. Mol. Genet. 2000 9: 347-352; doi:10.1093/hmg/9.3.347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroki Hamanaka, Yuko Katoh-Fukui, Kazuo Suzuki, Mariko Kobayashi, Rika Suzuki, Yoshiko Motegi, Yoko Nakahara, Aya Takeshita, Mizue Kawai, Koichi Ishiguro, Minesuke Yokoyama, and Shinobu C. Fujita

Altered cholesterol metabolism in human apolipoprotein E4 knock-in mice
Hum. Mol. Genet. 2000 9: 353-361; doi:10.1093/hmg/9.3.353 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Noriyuki Azuma, Asami Hirakiyama, Tadashi Inoue, Atsuko Asaka, and Masao Yamada

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
Hum. Mol. Genet. 2000 9: 363-366; doi:10.1093/hmg/9.3.363 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bassem A. Bejjani, David W. Stockton, Richard Alan Lewis, Karim F. Tomey, David K. Dueker, Monzer Jabak, William F. Astle, and James R. Lupski

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
Hum. Mol. Genet. 2000 9: 367-374; doi:10.1093/hmg/9.3.367 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jangsuk Oh, Zhen-Xiang Liu, Guo Hong Feng, Graça Raposo, and Richard A. Spritz

The Hermansky–Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes
Hum. Mol. Genet. 2000 9: 375-385; doi:10.1093/hmg/9.3.375 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martina Metzler, Cheryl D. Helgason, Ioannis Dragatsis, Taiqi Zhang, Lu Gan, Nicolas Pineault, Scott O. Zeitlin, R. Keith Humphries, and Michael R. Hayden

Huntingtin is required for normal hematopoiesis
Hum. Mol. Genet. 2000 9: 387-394; doi:10.1093/hmg/9.3.387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alfredo Ciccodicola, Maurizio D’Esposito, Teresa Esposito, Fernando Gianfrancesco, Carmela Migliaccio, Maria Giuseppina Miano, Maria Rosaria Matarazzo, Marcella Vacca, Annamaria Franzè, Monica Cuccurese, Massimo Cocchia, Anna Curci, Antonio Terracciano, Anna Torino, Silvia Cocchia, Grazia Mercadante, Emilio Pannone, Nicoletta Archidiacono, Mariano Rocchi, David Schlessinger, and Michele D’Urso

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
Hum. Mol. Genet. 2000 9: 395-401; doi:10.1093/hmg/9.3.395 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michel M. Ouellette, Lisa D. McDaniel, Woodring E. Wright, Jerry W. Shay, and Roger A. Schultz

The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes
Hum. Mol. Genet. 2000 9: 403-411; doi:10.1093/hmg/9.3.403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark G. Carter, Margaret A. Johns, Xiaobei Zeng, Li Zhou, M. Christine Zink, Joseph L. Mankowski, David M. Donovan, and Stephen B. Baylin

Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller–Dieker syndrome
Hum. Mol. Genet. 2000 9: 413-419; doi:10.1093/hmg/9.3.413 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fabrício R. Santos, Arpita Pandya, Manfred Kayser, R. John Mitchell, Aiping Liu, Lalji Singh, Giovanni Destro-Bisol, Andrea Novelletto, Raheel Qamar, S. Qasim Mehdi, Raju Adhikari, Peter de Knijff, and Chris Tyler-Smith

A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome
Hum. Mol. Genet. 2000 9: 421-430; doi:10.1093/hmg/9.3.421 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juha Mykkänen, David Torrents, Marta Pineda, Marta Camps, Maria Eugenia Yoldi, Nina Horelli-Kuitunen, Kirsi Huoponen, Minna Heinonen, Jussi Oksanen, Olli Simell, Marja-Liisa Savontaus, Antonio Zorzano, Manuel Palacín, and Pertti Aula

Functional analysis of novel mutations in y⁺LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)
Hum. Mol. Genet. 2000 9: 431-438; doi:10.1093/hmg/9.3.431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M. Teresa Fortune, Christos Vassilopoulos, Mary I. Coolbaugh, Michael J. Siciliano, and Darren G. Monckton

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
Hum. Mol. Genet. 2000 9: 439-445; doi:10.1093/hmg/9.3.439 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael Koptides, Richard Mean, Kyproula Demetriou, Alkis Pierides, and C. Constantinou Deltas

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
Hum. Mol. Genet. 2000 9: 447-452; doi:10.1093/hmg/9.3.447 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mamoru Kamiya, Hannah Judson, Yasushi Okazaki, Moriaki Kusakabe, Masami Muramatsu, Shuji Takada, Nobuo Takagi, Takahiro Arima, Norio Wake, Katsunori Kamimura, Kenichi Satomura, Robert Hermann, David T. Bonthron, and Yoshihide Hayashizaki

The cell cycle control gene ZAC/PLAGL1 is imprinted—a strong candidate gene for transient neonatal diabetes
Hum. Mol. Genet. 2000 9: 453-460; doi:10.1093/hmg/9.3.453 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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