Human Molecular Genetics

ARTICLES:

Angelina Miloloza, Margit Rosner, Mark Nellist, Dicky Halley, Gerhard Bernaschek, and Markus Hengstschläger

The TSC1 gene product, hamartin, negatively regulates cell proliferation
Hum. Mol. Genet. 2000 9: 1721-1727; doi:10.1093/hmg/9.12.1721 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David W. Anderson, Frank J. Probst, Inna A. Belyantseva, Robert A. Fridell, Lisa Beyer, Donna M. Martin, Doris Wu, Bechara Kachar, Thomas B. Friedman, Yehoash Raphael, and Sally A. Camper

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
Hum. Mol. Genet. 2000 9: 1729-1738; doi:10.1093/hmg/9.12.1729 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Monika Wilda, Ilja Demuth, Patrick Concannon, Karl Sperling, and Horst Hameister

Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development
Hum. Mol. Genet. 2000 9: 1739-1744; doi:10.1093/hmg/9.12.1739 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Linda M. Call, Clara S. Moore, Gail Stetten, and John D. Gearhart

A Cre-lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells
Hum. Mol. Genet. 2000 9: 1745-1751; doi:10.1093/hmg/9.12.1745 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sean Hayes, Gustavo Turecki, Katéri Brisebois, Iscia Lopes-Cendes, Claudia Gaspar, Olaf Riess, Laura P.W. Ranum, Stefan-M. Pulst, and Guy A. Rouleau

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
Hum. Mol. Genet. 2000 9: 1753-1758; doi:10.1093/hmg/9.12.1753 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dana C. Crawford, Fuping Zhang, Beth Wilson, Stephen T. Warren, and Stephanie L. Sherman

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability
Hum. Mol. Genet. 2000 9: 1759-1769; doi:10.1093/hmg/9.12.1759 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Malka Nissim-Rafinia, Ornit Chiba-Falek, Gil Sharon, Amarel Boss, and Batsheva Kerem

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
Hum. Mol. Genet. 2000 9: 1771-1778; doi:10.1093/hmg/9.12.1771 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stanislav Kmoch, Jirí Brynda, Befekadu Asfaw, Karel Bezouska, Petr Novák, Pavlína Rezácová, Lenka Ondrová, Martin Filipec, Juraj Sedlácek, and Milan Elleder

Link between a novel human D-crystallin allele and a unique cataract phenotype explained by protein crystallography
Hum. Mol. Genet. 2000 9: 1779-1786; doi:10.1093/hmg/9.12.1779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Min-Xin Guan, Nathan Fischel-Ghodsian, and Giuseppe Attardi

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
Hum. Mol. Genet. 2000 9: 1787-1793; doi:10.1093/hmg/9.12.1787 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guang-hui Wang, Noriko Sawai, Svetlana Kotliarova, Ichiro Kanazawa, and Nobuyuki Nukina

Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B
Hum. Mol. Genet. 2000 9: 1795-1803; doi:10.1093/hmg/9.12.1795 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ngan Ching Cheng, Henri J. van de Vrugt, Martin A. van der Valk, Anneke B. Oostra, Paul Krimpenfort, Yne de Vries, Hans Joenje, Anton Berns, and Fré Arwert

Mice with a targeted disruption of the Fanconi anemia homolog Fanca
Hum. Mol. Genet. 2000 9: 1805-1811; doi:10.1093/hmg/9.12.1805 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Syann Lee, Serguei Kozlov, Lidia Hernandez, Stormy J. Chamberlain, Camilynn I. Brannan, Colin L. Stewart, and Rachel Wevrick

Expression and imprinting of MAGEL2 suggest a role in Prader–Willi syndrome and the homologous murine imprinting phenotype
Hum. Mol. Genet. 2000 9: 1813-1819; doi:10.1093/hmg/9.12.1813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yunjun Ai, Zhong Zheng, Ann O’Brien-Jenkins, David J. Bernard, Tony Wynshaw-Boris, Cong Ning, Robert Reynolds, Stanton Segal, Kris Huang, and Dwight Stambolian

A mouse model of galactose-induced cataracts
Hum. Mol. Genet. 2000 9: 1821-1827; doi:10.1093/hmg/9.12.1821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martina Paulsen, Osman El-Maarri, Sabine Engemann, Martin Strödicke, Olivia Franck, Karen Davies, Richard Reinhardt, Wolf Reik, and Jörn Walter

Sequence conservation and variability of imprinting in the Beckwith–Wiedemann syndrome gene cluster in human and mouse
Hum. Mol. Genet. 2000 9: 1829-1841; doi:10.1093/hmg/9.12.1829 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y. Torrente, M.G. D’Angelo, Z. Li, R. Del Bo, S. Corti, M. Mericskay, A. DeLiso, A. Fassati, D. Paulin, G.P. Comi, G. Scarlato, and N. Bresolin

Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency
Hum. Mol. Genet. 2000 9: 1843-1852; doi:10.1093/hmg/9.12.1843 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Roman Chrast, Hamish S. Scott, Rime Madani, Lars Huber, David P. Wolfer, Marco Prinz, Adriano Aguzzi, Hans-Peter Lipp, and Stylianos E. Antonarakis

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome
Hum. Mol. Genet. 2000 9: 1853-1864; doi:10.1093/hmg/9.12.1853 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Adrian M. Isaacs, Kay E. Davies, A. Jackie Hunter, Patrick M. Nolan, Lucie Vizor, Jo Peters, Davina G. Gale, David P. Kelsell, Ian D. Latham, Jennifer M. Chase, Elizabeth M.C. Fisher, Mark M. Bouzyk, Allyson Potter, Mohan Masih, Frank S. Walsh, Matthew A. Sims, Kim E. Doncaster, Claire A. Parsons, Jo Martin, Steven D.M. Brown, Sohaila Rastan, Nigel K. Spurr, and Ian C. Gray

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
Hum. Mol. Genet. 2000 9: 1865-1871; doi:10.1093/hmg/9.12.1865 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Celene Grayson, Silvia N.M. Reid, Juliet A. Ellis, Adam Rutherford, Jane C. Sowden, John R.W. Yates, Debora B. Farber, and Dorothy Trump

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri–Rb1 cells
Hum. Mol. Genet. 2000 9: 1873-1879; doi:10.1093/hmg/9.12.1873 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Li-Ling Han, Marcel P. Keller, William Navidi, Phillip F. Chance, and Norman Arnheim

Unequal exchange at the Charcot–Marie–Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate
Hum. Mol. Genet. 2000 9: 1881-1889; doi:10.1093/hmg/9.12.1881 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J.W. Yang, C. Pendon, J. Yang, N. Haywood, A. Chand, and W.R.A. Brown

Human mini-chromosomes with minimal centromeres
Hum. Mol. Genet. 2000 9: 1891-1902; doi:10.1093/hmg/9.12.1891 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigenda
Hum. Mol. Genet. 2000 9: 1903; doi:10.1093/hmg/9.12.1903 [PDF] [Request Permissions]  

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