Human Molecular Genetics

ARTICLES:

Jan M.W. Geurts, Rob G.J.H. Janssen, Marleen M.J. van Greevenbroek, Carla J.H. van der Kallen, Rita M. Cantor, Xiang-dong Bu, Bradley E. Aouizerat, Hooman Allayee, Jerome I. Rotter, and Tjerk W.A. de Bruin

Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia
Hum. Mol. Genet. 2000 9: 2067-2074; doi:10.1093/hmg/9.14.2067 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shin-ichi Horike, Kohzoh Mitsuya, Makiko Meguro, Noriko Kotobuki, Akiko Kashiwagi, Tomomi Notsu, Thomas C. Schulz, Yasuaki Shirayoshi, and Mitsuo Oshimura

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith–Wiedemann syndrome
Hum. Mol. Genet. 2000 9: 2075-2083; doi:10.1093/hmg/9.14.2075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

James P. Boylan and Alan F. Wright

Identification of a novel protein interacting with RPGR
Hum. Mol. Genet. 2000 9: 2085-2093; doi:10.1093/hmg/9.14.2085 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ronald Roepman, Nathalie Bernoud-Hubac, Diana E. Schick, Alessandra Maugeri, Wolfgang Berger, Hans-Hilger Ropers, Frans P.M. Cremers, and Paulo A. Ferreira

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
Hum. Mol. Genet. 2000 9: 2095-2105; doi:10.1093/hmg/9.14.2095 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susanne Kohl, Britta Baumann, Martina Broghammer, Herbert Jägle, Paul Sieving, Ulrich Kellner, Robert Spegal, Mario Anastasi, Eberhart Zrenner, Lindsay T. Sharpe, and Bernd Wissinger

Mutations in the CNGB3 gene encoding the ß-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
Hum. Mol. Genet. 2000 9: 2107-2116; doi:10.1093/hmg/9.14.2107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

David J. Elliott, Julian P. Venables, Christopher S. Newton, Diane Lawson, Shelagh Boyle, Ian C. Eperon, and Howard J. Cooke

An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene
Hum. Mol. Genet. 2000 9: 2117-2124; doi:10.1093/hmg/9.14.2117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Melinda L. Moseley, Lawrence J. Schut, Thomas D. Bird, Michael D. Koob, John W. Day, and Laura P.W. Ranum

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
Hum. Mol. Genet. 2000 9: 2125-2130; doi:10.1093/hmg/9.14.2125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kathy Kozlowski and Michael A. Walter

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders
Hum. Mol. Genet. 2000 9: 2131-2139; doi:10.1093/hmg/9.14.2131 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael A. Hauser, Stephen K. Horrigan, Paula Salmikangas, Udana M. Torian, Kristi D. Viles, Ria Dancel, Richard W. Tim, Anu Taivainen, Luria Bartoloni, James M. Gilchrist, Jeffrey M. Stajich, P. Craig Gaskell, John R. Gilbert, Jeffrey M. Vance, Margaret A. Pericak-Vance, Olli Carpen, Carol A. Westbrook, and Marcy C. Speer

Myotilin is mutated in limb girdle muscular dystrophy 1A
Hum. Mol. Genet. 2000 9: 2141-2147; doi:10.1093/hmg/9.14.2141 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hossein Fakhrai-Rad, Andrej Nikoshkov, Ashraf Kamel, Maria Fernström, Juleen R. Zierath, Svante Norgren, Holger Luthman, and Joakim Galli

Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats
Hum. Mol. Genet. 2000 9: 2149-2158; doi:10.1093/hmg/9.14.2149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Valérie Race, Sandrine Marie, Marie-Françoise Vincent, and Georges Van den Berghe

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
Hum. Mol. Genet. 2000 9: 2159-2165; doi:10.1093/hmg/9.14.2159 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L.T. Lam, Y.C.N. Pham, Nguyen thi Man, and G.E. Morris

Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart
Hum. Mol. Genet. 2000 9: 2167-2173; doi:10.1093/hmg/9.14.2167 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lucius A. Passani, Mark T. Bedford, Peter W. Faber, Kim M. McGinnis, Alan H. Sharp, James F. Gusella, Jean-Paul Vonsattel, and Marcy E. MacDonald

Huntingtin’s WW domain partners in Huntington’s disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington’s disease pathogenesis
Hum. Mol. Genet. 2000 9: 2175-2182; doi:10.1093/hmg/9.14.2175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Antoine Kerjean, Jean-Michel Dupont, Christian Vasseur, Dominique Le Tessier, Laurence Cuisset, Andràs Pàldi, Pierre Jouannet, and Marc Jeanpierre

Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis
Hum. Mol. Genet. 2000 9: 2183-2187; doi:10.1093/hmg/9.14.2183 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sylvain Ernest, Gerd-Jörg Rauch, Pascal Haffter, Robert Geisler, Christine Petit, and Teresa Nicolson

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness
Hum. Mol. Genet. 2000 9: 2189-2196; doi:10.1093/hmg/9.14.2189 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alexander McCampbell, J. Paul Taylor, Addis A. Taye, Jon Robitschek, Mei Li, Jessica Walcott, Diane Merry, Yaohui Chai, Henry Paulson, Gen Sobue, and Kenneth H. Fischbeck

CREB-binding protein sequestration by expanded polyglutamine
Hum. Mol. Genet. 2000 9: 2197-2202; doi:10.1093/hmg/9.14.2197 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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