Human Molecular Genetics

ARTICLES:

LA Perez Jurado, YK Wang, R Peoples, A Coloma, J Cruces, and U Francke

A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
Hum. Mol. Genet. 1998 7: 325-334; doi:10.1093/hmg/7.3.325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DH Gutmann, RT Geist, Hm Xu, JS Kim, and S Saporito-Irwin

Defects in neurofibromatosis 2 protein function can arise at multiple levels
Hum. Mol. Genet. 1998 7: 335-345; doi:10.1093/hmg/7.3.335 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Degoul, H Brule, C Cepanec, M Helm, C Marsac, J Leroux, R Giege, and C Florentz

Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene
Hum. Mol. Genet. 1998 7: 347-354; doi:10.1093/hmg/7.3.347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FP Cremers, DJ van de Pol, M van Driel, AI den Hollander, FJ van Haren, NV Knoers, N Tijmes, AA Bergen, K Rohrschneider, A Blankenagel, AJ Pinckers, AF Deutman, and CB Hoyng

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
Hum. Mol. Genet. 1998 7: 355-362; doi:10.1093/hmg/7.3.355 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NL White, CF Higgins, and AE Trezise

Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes
Hum. Mol. Genet. 1998 7: 363-369; doi:10.1093/hmg/7.3.363 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JM Boutell, JD Wood, PS Harper, and AL Jones

Huntingtin interacts with cystathionine beta-synthase
Hum. Mol. Genet. 1998 7: 371-378; doi:10.1093/hmg/7.3.371 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Abdullah, MA Trifiro, V Panet-Raymond, C Alvarado, S de Tourreil, D Frankel, HM Schipper, and L Pinsky

Spinobulbar muscular atrophy: polyglutamine-expanded androgen receptor is proteolytically resistant in vitro and processed abnormally in transfected cells
Hum. Mol. Genet. 1998 7: 379-384; doi:10.1093/hmg/7.3.379 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MF Bouzidi, A Poyau, and C Godinot

Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA
Hum. Mol. Genet. 1998 7: 385-391; doi:10.1093/hmg/7.3.385 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A De Klein, PH Riegman, EK Bijlsma, A Heldoorn, M Muijtjens, MA den Bakker, CJ Avezaat, and EC Zwarthoff

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2
Hum. Mol. Genet. 1998 7: 393-398; doi:10.1093/hmg/7.3.393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Libert, P Cochaux, G Beckman, M Samson, M Aksenova, A Cao, A Czeizel, M Claustres, C de la Rua, M Ferrari, C Ferrec, G Glover, B Grinde, S Guran, V Kucinskas, J Lavinha, B Mercier, G Ogur, L Peltonen, C Rosatelli, M Schwartz, V Spitsyn, L Timar, L Beckman, and G Vassart

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe
Hum. Mol. Genet. 1998 7: 399-406; doi:10.1093/hmg/7.3.399 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Gianfrancesco, T Esposito, L Montanini, A Ciccodicola, S Mumm, R Mazzarella, E Rao, S Giglio, G Rappold, and A Forabosco

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere
Hum. Mol. Genet. 1998 7: 407-414; doi:10.1093/hmg/7.3.407 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EV Semina, RS Reiter, and JC Murray

A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse
Hum. Mol. Genet. 1998 7: 415-422; doi:10.1093/hmg/7.3.415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Meloni, V Albanese, P Ravassard, F Treilhou, and J Mallet

A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro
Hum. Mol. Genet. 1998 7: 423-428; doi:10.1093/hmg/7.3.423 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Mitchell, SA Wilcox, JM Watson, JL Lerner, DR Woods, J Scheffler, JP Hearn, CE Bishop, and JA Graves

The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome
Hum. Mol. Genet. 1998 7: 429-434; doi:10.1093/hmg/7.3.429 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Meirhaeghe, L Fajas, N Helbecque, D Cottel, P Lebel, J Dallongeville, S Deeb, J Auwerx, and P Amouyel

A genetic polymorphism of the peroxisome proliferator-activated receptor gamma gene influences plasma leptin levels in obese humans
Hum. Mol. Genet. 1998 7: 435-440; doi:10.1093/hmg/7.3.435 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Chakrabarti, J Bristulf, GS Foss, and KE Davies

Expression of the murine homologue of FMR2 in mouse brain and during development
Hum. Mol. Genet. 1998 7: 441-448; doi:10.1093/hmg/7.3.441 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Huxley, E Passage, AM Robertson, B Youl, S Huston, A Manson, D Saberan- Djoniedi, D Figarella-Branger, JF Pellissier, PK Thomas, and M Fontes

Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice
Hum. Mol. Genet. 1998 7: 449-458; doi:10.1093/hmg/7.3.449 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DR Nyholt, JL Dawkins, PJ Brimage, PJ Goadsby, GA Nicholson, and LR Griffiths

Evidence for an X-linked genetic component in familial typical migraine
Hum. Mol. Genet. 1998 7: 459-463; doi:10.1093/hmg/7.3.459 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Qi and PH Byers

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome [published erratum appears in Hum Mol Genet 1998 Jun;7(6):1059]
Hum. Mol. Genet. 1998 7: 465-469; doi:10.1093/hmg/7.3.465 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Litt, P Kramer, DM LaMorticella, W Murphey, EW Lovrien, and RG Weleber

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
Hum. Mol. Genet. 1998 7: 471-474; doi:10.1093/hmg/7.3.471 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DL Stone, R Agarwala, AA Schaffer, JL Weber, D Vaske, T Oda, SC Chandrasekharappa, CA Francomano, and LG Biesecker

Genetic and physical mapping of the McKusick-Kaufman syndrome
Hum. Mol. Genet. 1998 7: 475-481; doi:10.1093/hmg/7.3.475 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TD Gould and K Pfeifer

Imprinting of mouse Kvlqt1 is developmentally regulated
Hum. Mol. Genet. 1998 7: 483-487; doi:10.1093/hmg/7.3.483 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Dal Zotto, NA Quaderi, R Elliott, PA Lingerfelter, L Carrel, V Valsecchi, E Montini, CH Yen, V Chapman, I Kalcheva, G Arrigo, O Zuffardi, S Thomas, HF Willard, A Ballabio, CM Disteche, and EI Rugarli

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region
Hum. Mol. Genet. 1998 7: 489-499; doi:10.1093/hmg/7.3.489 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Ling, G McEachern, A Seyda, N MacKay, SW Scherer, S Bratinova, B Beatty, ML Giovannucci-Uzielli, and BH Robinson

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency
Hum. Mol. Genet. 1998 7: 501-505; doi:10.1093/hmg/7.3.501 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Marsh, V Coulon, KL Lunetta, P Rocca-Serra, PL Dahia, Z Zheng, D Liaw, S Caron, B Duboue, AY Lin, AL Richardson, JM Bonnetblanc, JM Bressieux, A Cabarrot-Moreau, A Chompret, L Demange, RA Eeles, AM Yahanda, ER Fearon, JP Fricker, RJ Gorlin, SV Hodgson, S Huson, D Lacombe, and C Eng

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
Hum. Mol. Genet. 1998 7: 507-515; doi:10.1093/hmg/7.3.507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TR Merriman, IA Eaves, RC Twells, ME Merriman, PA Danoy, CE Muxworthy, KM Hunter, RD Cox, F Cucca, PA McKinney, JP Shield, JD Baum, J Tuomilehto, E Tuomilehto- Wolf, C Ionesco-Tirgoviste, G Joner, E Thorsby, DE Undlien, F Pociot, J Nerup, KS Ronningen, SC Bain, and JA Todd

Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6)
Hum. Mol. Genet. 1998 7: 517-524; doi:10.1093/hmg/7.3.517 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LG Gouw, MA Castaneda, CK McKenna, KB Digre, SM Pulst, S Perlman, MS Lee, C Gomez, K Fischbeck, D Gagnon, E Storey, T Bird, FR Jeri, and LJ Ptacek

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
Hum. Mol. Genet. 1998 7: 525-532; doi:10.1093/hmg/7.3.525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC Lambert, F Pasquier, D Cottel, B Frigard, P Amouyel, and MC Chartier-Harlin

A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease
Hum. Mol. Genet. 1998 7: 533-540; doi:10.1093/hmg/7.3.533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Lorenz, F Francis, K Gempel, A Boddrich, M Josten, W Schmahl, J Schmidt, H Lehrach, T Meitinger, and TM Strom

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene
Hum. Mol. Genet. 1998 7: 541-547; doi:10.1093/hmg/7.3.541 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HJ Blair, E Gormally, IC Uwechue, and Y Boyd

Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis
Hum. Mol. Genet. 1998 7: 549-555; doi:10.1093/hmg/7.3.549 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Mazeyrat and MJ Mitchell

Rodent Y chromosome TSPY gene is functional in rat and non-functional in mouse
Hum. Mol. Genet. 1998 7: 557-562; doi:10.1093/hmg/7.3.557 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JA Price, DW Bowden, JT Wright, MJ Pettenati, and TC Hart

Identification of a mutation in DLX3 associated with tricho-dento- osseous (TDO) syndrome
Hum. Mol. Genet. 1998 7: 563-569; doi:10.1093/hmg/7.3.563 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium
Hum. Mol. Genet. 1998 7: 571-578; doi:10.1093/hmg/7.3.571 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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