Human Molecular Genetics

ARTICLES:

Howard T. Jacobs and Ian J. Holt

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t
Hum. Mol. Genet. 2000 9: 463-465; doi:10.1093/hmg/9.4.463 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G. Valentin Börner, Massimo Zeviani, Valeria Tiranti, Franco Carrara, Sabine Hoffmann, Klaus Dieter Gerbitz, Hanns Lochmüller, Dieter Pongratz, Thomas Klopstock, Atle Melberg, Elisabeth Holme, and Svante Pääbo

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
Hum. Mol. Genet. 2000 9: 467-475; doi:10.1093/hmg/9.4.467 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Siddharth K. Prakash, Richard Paylor, Sarah Jenna, Nathalie Lamarche-Vane, Dawna L. Armstrong, Bisong Xu, Michael A. Mancini, and Huda Y. Zoghbi

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA
Hum. Mol. Genet. 2000 9: 477-488; doi:10.1093/hmg/9.4.477 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tamim H. Shaikh, Hiroki Kurahashi, Sulagna C. Saitta, Anna Mizrahy O’Hare, Ping Hu, Bruce A. Roe, Deborah A. Driscoll, Donna M. McDonald-McGinn, Elaine H. Zackai, Marcia L. Budarf, and Beverly S. Emanuel

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
Hum. Mol. Genet. 2000 9: 489-501; doi:10.1093/hmg/9.4.489 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vanessa C. Wheeler, Jacqueline K. White, Claire-Anne Gutekunst, Vladimir Vrbanac, Meredith Weaver, Xiao-Jiang Li, Shi-Hua Li, Hong Yi, Jean-Paul Vonsattel, James F. Gusella, Steven Hersch, Wojtek Auerbach, Alexandra L. Joyner, and Marcy E. MacDonald

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh^Q92 and Hdh^Q111 knock-in mice
Hum. Mol. Genet. 2000 9: 503-513; doi:10.1093/hmg/9.4.503 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Amanda Savage Brown, Eleanor Feingold, Karl W. Broman, and Stephanie L. Sherman

Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
Hum. Mol. Genet. 2000 9: 515-523; doi:10.1093/hmg/9.4.515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alister Craig, Delmiro Fernandez-Reyes, Mehdi Mesri, Alison McDowall, Dario C. Altieri, Nancy Hogg, and Christopher Newbold

A functional analysis of a natural variant of intercellular adhesion molecule-1 (ICAM-1^Kilifi)
Hum. Mol. Genet. 2000 9: 525-530; doi:10.1093/hmg/9.4.525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Caroline J. Zeiss, Kunal Ray, Gregory M. Acland, and Gustavo D. Aguirre

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)
Hum. Mol. Genet. 2000 9: 531-537; doi:10.1093/hmg/9.4.531 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nathalie G. Bérubé, Cecilia A. Smeenk, and David J. Picketts

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association
Hum. Mol. Genet. 2000 9: 539-547; doi:10.1093/hmg/9.4.539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A. Heinzmann, X.-Q. Mao, M. Akaiwa, R.T. Kreomer, P.-S. Gao, K. Ohshima, R. Umeshita, Y. Abe, S. Braun, T. Yamashita, M.H. Roberts, R. Sugimoto, K. Arima, Y. Arinobu, B. Yu, S. Kruse, T. Enomoto, Y. Dake, M. Kawai, S. Shimazu, S. Sasaki, C.N. Adra, M. Kitaichi, H. Inoue, K. Yamauchi, N. Tomichi, F. Kurimoto, N. Hamasaki, J.M. Hopkin, K. Izuhara, T. Shirakawa, and K.A. Deichmann

Genetic variants of IL-13 signalling and human asthma and atopy
Hum. Mol. Genet. 2000 9: 549-559; doi:10.1093/hmg/9.4.549 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Robert Bauchwitz and Frank Costantini

Developmentally distinct effects on human -, - and -globin levels caused by the absence or altered position of the human ß-globin gene in YAC transgenic mice
Hum. Mol. Genet. 2000 9: 561-574; doi:10.1093/hmg/9.4.561 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angeleen Fleming and Andrew J. Copp

A genetic risk factor for mouse neural tube defects: defining the embryonic basis
Hum. Mol. Genet. 2000 9: 575-581; doi:10.1093/hmg/9.4.575 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Despina Moshous, Lanying Li, Régina de Chasseval, Noel Philippe, Nada Jabado, Morton J. Cowan, Alain Fischer, and Jean-Pierre de Villartay

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p
Hum. Mol. Genet. 2000 9: 583-588; doi:10.1093/hmg/9.4.583 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rebecca J. Gardner, Deborah J.G. Mackay, Andrew J. Mungall, Constantin Polychronakos, Reiner Siebert, Julian P.H. Shield, I. Karen Temple, and David O. Robinson

An imprinted locus associated with transient neonatal diabetes mellitus
Hum. Mol. Genet. 2000 9: 589-596; doi:10.1093/hmg/9.4.589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tadashi Kondo, Miroslav P. Bobek, Rork Kuick, Barbara Lamb, Xiaoxiang Zhu, Ajita Narayan, Déborah Bourc’his, Evani Viegas-Péquignot, Melanie Ehrlich, and Samir M. Hanash

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
Hum. Mol. Genet. 2000 9: 597-604; doi:10.1093/hmg/9.4.597 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patricia J.T.A. Groenen, Derick G. Wansink, Marga Coerwinkel, Walther van den Broek, Gert Jansen, and Bé Wieringa

Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties
Hum. Mol. Genet. 2000 9: 605-616; doi:10.1093/hmg/9.4.605 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dori Huertas, Steve Howe, Amanda McGuigan, and Clare Huxley

Expression of the human CFTR gene from episomal oriP-EBNA1-YACs in mouse cells
Hum. Mol. Genet. 2000 9: 617-629; doi:10.1093/hmg/9.4.617 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Raouf Alami, John M. Greally, Keiji Tanimoto, Steven Hwang, Yong-Qing Feng, James D. Engel, Steven Fiering, and Eric E. Bouhassira

ß-globin YAC transgenes exhibit uniform expression levels but position effect variegation in mice
Hum. Mol. Genet. 2000 9: 631-636; doi:10.1093/hmg/9.4.631 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nùria Fonknechten, Delphine Mavel, Paula Byrne, Claire-Sophie Davoine, Corinne Cruaud, Dominikus Boentsch, Delphine Samson, Paula Coutinho, Michael Hutchinson, Paul Mc Monagle, Jean-Marc Burgunder, Antonio Tartaglione, Olivier Heinzlef, Imed Feki, Thomas Deufel, Nollaig Parfrey, Alexis Brice, Bertrand Fontaine, Jean-François Prud’homme, Jean Weissenbach, Alexandra Dürr, and Jamilé Hazan

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
Hum. Mol. Genet. 2000 9: 637-644; doi:10.1093/hmg/9.4.637 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patricia M. D’Cruz, Douglas Yasumura, Jessica Weir, Michael T. Matthes, Hadi Abderrahim, Matthew M. LaVail, and Douglas Vollrath

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
Hum. Mol. Genet. 2000 9: 645-651; doi:10.1093/hmg/9.4.645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John L. Goodier, Eric M. Ostertag, and Haig H. Kazazian, Jr

Transduction of 3'-flanking sequences is common in L1 retrotransposition
Hum. Mol. Genet. 2000 9: 653-657; doi:10.1093/hmg/9.4.653 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 2000 9: 659; doi:10.1093/hmg/9.4.659 [PDF] [Request Permissions]  

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