Human Molecular Genetics

ARTICLES:

MH Jones, RA Furlong, H Burkin, IJ Chalmers, GM Brown, O Khwaja, and NA Affara

The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 [published erratum appears in Hum Mol Genet 1997 Feb;6(2):334-5]
Hum. Mol. Genet. 1996 5: 1695-1701; doi:10.1093/hmg/5.11.1695 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Yang, SE Haecker, Q Su, and JM Wilson

Immunology of gene therapy with adenoviral vectors in mouse skeletal muscle
Hum. Mol. Genet. 1996 5: 1703-1712; doi:10.1093/hmg/5.11.1703 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MC Simmler, DB Cunningham, P Clerc, T Vermat, B Caudron, C Cruaud, A Pawlak, C Szpirer, J Weissenbach, JM Claverie, and P Avner

A 94 kb genomic sequence 3' to the murine Xist gene reveals an AT rich region containing a new testis specific gene Tsx
Hum. Mol. Genet. 1996 5: 1713-1726; doi:10.1093/hmg/5.11.1713 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DW Parsons, PE McAndrew, UR Monani, JR Mendell, AH Burghes, and TW Prior

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene
Hum. Mol. Genet. 1996 5: 1727-1732; doi:10.1093/hmg/5.11.1727 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Wenstrup, GT Langland, MC Willing, VN D'Souza, and WG Cole

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
Hum. Mol. Genet. 1996 5: 1733-1736; doi:10.1093/hmg/5.11.1733 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Levinson, R Conant, R Schnur, S Das, S Packman, and J Gitschier

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
Hum. Mol. Genet. 1996 5: 1737-1742; doi:10.1093/hmg/5.11.1737 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Hu, MP Lee, LA Johnson, and AP Feinberg

A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues
Hum. Mol. Genet. 1996 5: 1743-1748; doi:10.1093/hmg/5.11.1743 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Speek, F Barry, and WL Miller

Alternate promoters and alternate splicing of human tenascin-X, a gene with 5' and 3' ends buried in other genes
Hum. Mol. Genet. 1996 5: 1749-1758; doi:10.1093/hmg/5.11.1749 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Cooper, W Amos, D Hoffman, and DC Rubinsztein

Network analysis of human Y microsatellite haplotypes
Hum. Mol. Genet. 1996 5: 1759-1766; doi:10.1093/hmg/5.11.1759 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MA Jobling, V Samara, A Pandya, N Fretwell, B Bernasconi, RJ Mitchell, T Gerelsaikhan, B Dashnyam, A Sajantila, PJ Salo, Y Nakahori, CM Disteche, K Thangaraj, L Singh, MH Crawford, and C Tyler-Smith

Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
Hum. Mol. Genet. 1996 5: 1767-1775; doi:10.1093/hmg/5.11.1767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JE Parrish, AE Scheuerle, RA Lewis, ML Levy, and DL Nelson

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2
Hum. Mol. Genet. 1996 5: 1777-1783; doi:10.1093/hmg/5.11.1777 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Byrd, PR Cooper, T Stankovic, HS Kullar, GD Watts, PJ Robinson, and MR Taylor

A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies
Hum. Mol. Genet. 1996 5: 1785-1791; doi:10.1093/hmg/5.11.1785 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CL O'Keefe, PE Warburton, and AG Matera

Oligonucleotide probes for alpha satellite DNA variants can distinguish homologous chromosomes by FISH
Hum. Mol. Genet. 1996 5: 1793-1799; doi:10.1093/hmg/5.11.1793 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Schnieders, T Dork, J Arnemann, T Vogel, M Werner, and J Schmidtke

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues
Hum. Mol. Genet. 1996 5: 1801-1807; doi:10.1093/hmg/5.11.1801 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Thomas, Y Ye, and E Lightner

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
Hum. Mol. Genet. 1996 5: 1809-1812; doi:10.1093/hmg/5.11.1809 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Nestorowicz, BA Wilson, KP Schoor, H Inoue, B Glaser, H Landau, CA Stanley, PS Thornton, JP Clement, 4th, J Bryan, L Aguilar-Bryan, and MA Permutt

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
Hum. Mol. Genet. 1996 5: 1813-1822; doi:10.1093/hmg/5.11.1813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CA May, AJ Jeffreys, and JA Armour

Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)
Hum. Mol. Genet. 1996 5: 1823-1833; doi:10.1093/hmg/5.11.1823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Fu, R Hartlen, T Johns, A Genge, G Karpati, and EA Shoubridge

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
Hum. Mol. Genet. 1996 5: 1835-1840; doi:10.1093/hmg/5.11.1835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EM McNally, D Duggan, JR Gorospe, CG Bonnemann, M Fanin, E Pegoraro, HG Lidov, S Noguchi, E Ozawa, RS Finkel, RP Cruse, C Angelini, LM Kunkel, and EP Hoffman

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy
Hum. Mol. Genet. 1996 5: 1841-1847; doi:10.1093/hmg/5.11.1841 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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