Human Molecular Genetics

REPORTS:

Mark P. Miller and Sudhir Kumar

Understanding human disease mutations through the use of interspecific genetic variation
Hum. Mol. Genet. 2001 10: 2319-2328; doi:10.1093/hmg/10.21.2319 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hong Zhang, Wolfgang Holzgreve, and Christian De Geyter

Bcl2-L-10, a novel anti-apoptotic member of the Bcl-2 family, blocks apoptosis in the mitochondria death pathway but not in the death receptor pathway
Hum. Mol. Genet. 2001 10: 2329-2339; doi:10.1093/hmg/10.21.2329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xueping Fan, Patrick Dion, Janet Laganiere, Bernard Brais, and Guy A. Rouleau

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death
Hum. Mol. Genet. 2001 10: 2341-2351; doi:10.1093/hmg/10.21.2341 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gian-Marco Sarra, Clare Stephens, Mahesh de Alwis, James W.B. Bainbridge, Alexander J. Smith, Adrian J. Thrasher, and Robin R. Ali

Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina
Hum. Mol. Genet. 2001 10: 2353-2361; doi:10.1093/hmg/10.21.2353 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Heather C. Mefford, Elena Linardopoulou, David Coil, Ger van den Engh, and Barbara J. Trask

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes
Hum. Mol. Genet. 2001 10: 2363-2372; doi:10.1093/hmg/10.21.2363 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena Linardopoulou, Heather C. Mefford, Oanh Nguyen, Cynthia Friedman, Ger van den Engh, D. Greg Farwell, Marc Coltrera, and Barbara J. Trask

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location
Hum. Mol. Genet. 2001 10: 2373-2383; doi:10.1093/hmg/10.21.2373 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Weining Lu, Xiaohua Shen, Anna Pavlova, Montaha Lakkis, Christopher J. Ward, Lynn Pritchard, Peter C. Harris, David R. Genest, Antonio R. Perez-Atayde, and Jing Zhou

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects
Hum. Mol. Genet. 2001 10: 2385-2396; doi:10.1093/hmg/10.21.2385 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Eugene Healy, Siobhán A. Jordan, Peter S. Budd, Ruth Suffolk, Jonathan L. Rees, and Ian J. Jackson

Functional variation of MC1R alleles from red-haired individuals
Hum. Mol. Genet. 2001 10: 2397-2402; doi:10.1093/hmg/10.21.2397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hanqian Carlson, Sara Ota, Christine E. Campbell, and Peter J. Hurlin

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome
Hum. Mol. Genet. 2001 10: 2403-2413; doi:10.1093/hmg/10.21.2403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susmito Biswas, Francis L. Munier, Jill Yardley, Niki Hart-Holden, Rahat Perveen, Pascal Cousin, John E. Sutphin, Bruce Noble, Mark Batterbury, Cay Kielty, Anna Hackett, Richard Bonshek, Alan Ridgway, David McLeod, Val C. Sheffield, Edwin M. Stone, Daniel F. Schorderet, and Graeme C. M. Black

Missense mutations in COL8A2, the gene encoding the 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Hum. Mol. Genet. 2001 10: 2415-2423; doi:10.1093/hmg/10.21.2415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kirupa Sathasivam, Ben Woodman, Amabirpal Mahal, Fabien Bertaux, Erich E. Wanker, Dave T. Shima, and Gillian P. Bates

Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington’s disease (HD) transgenic mice and HD patients
Hum. Mol. Genet. 2001 10: 2425-2435; doi:10.1093/hmg/10.21.2425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shweta Choudhry, Mitali Mukerji, Achal K. Srivastava, Satish Jain, and Samir K. Brahmachari

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms
Hum. Mol. Genet. 2001 10: 2437-2446; doi:10.1093/hmg/10.21.2437 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marcella Devoto, Claudia Specchia, Hui-Hua Li, John Caminis, Alan Tenenhouse, Hetty Rodriguez, and Loretta D. Spotila

Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36
Hum. Mol. Genet. 2001 10: 2447-2452; doi:10.1093/hmg/10.21.2447 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y. Gache, M. Allegra, C. Bodemer, A. Pisani-Spadafora, Y. de Prost, J. P. Ortonne, and G. Meneguzzi

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging
Hum. Mol. Genet. 2001 10: 2453-2461; doi:10.1093/hmg/10.21.2453 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martijn A. Huynen, Berend Snel, Peer Bork, and Toby J. Gibson

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly
Hum. Mol. Genet. 2001 10: 2463-2468; doi:10.1093/hmg/10.21.2463 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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