Human Molecular Genetics

ARTICLES:

Patricia Hunt, Renée LeMaire, Paula Embury, Leon Sheean, and Karen Mroz

Analysis of chromosome behavior in intact mammalian oocytes: monitoring the segregation of a univalent chromosome during female meiosis
Hum. Mol. Genet. 1995 4: 2007-2012; doi:10.1093/hmg/4.11.2007 [Abstract] [PDF] [Request Permissions]  

Lin Li and Dean H. Hamer

Recombination and allelic association in the Xq/Yq homology region
Hum. Mol. Genet. 1995 4: 2013-2016; doi:10.1093/hmg/4.11.2013 [Abstract] [PDF] [Request Permissions]  

Valeria Tiranti, Monica Munaro, Doriana Sandonà, Eleonora Lamantea, Marco Rimoldi, Stefano DiDonato, Roberto Bisson, and Massimo Zeviani

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants
Hum. Mol. Genet. 1995 4: 2017-2023; doi:10.1093/hmg/4.11.2017 [Abstract] [PDF] [Request Permissions]  

Kinneret Savitsky, Sharon Sfez, Danilo A. Tagle, Yael Ziv, Adam Sartiel, Francis S. Collins, Yosef Shiloh, and Gallt Rotman

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
Hum. Mol. Genet. 1995 4: 2025-2032; doi:10.1093/hmg/4.11.2025 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Naohiko Ikegaki, Xao X. Tang, Xing-Ge Liu, Jaclyn A. Biegel, Cindy Allen, Akira Yoshioka, Erik P. Sulman, Garrett M. Brodeur, and David E. Pleasure

Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein—tyrosine kinase gene of the EPH family
Hum. Mol. Genet. 1995 4: 2033-2045; doi:10.1093/hmg/4.11.2033 [Abstract] [PDF] [Request Permissions]  

Maria Stack, David Jones, Gavin White, Daniel S. Liscia, Tiziania Venesio, Graham Casey, David Crichton, Jenny Varley, Erika Mitchell, and Jim Heighway and Mauro Santibanez-Koref

Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3
Hum. Mol. Genet. 1995 4: 2047-2055; doi:10.1093/hmg/4.11.2047 [Abstract] [PDF] [Request Permissions]  

Nitai P. Bhattacharyya, Anil Ganesh, Geraldine Phear, Burt Richards, Adonis Skandalis, and Mark Meuth

Molecular analysis of mutations in mutator colorectal carcinoma cell lines
Hum. Mol. Genet. 1995 4: 2057-2064; doi:10.1093/hmg/4.11.2057 [Abstract] [PDF] [Request Permissions]  

Anne-Lise Børresen, Ragnhild A. Lothe, Gunn Iren Meling, Sigrid Lystad, Paul Morrison, James Lipford, Michael F. Kane, Torleiv O. Rognum, and Richard D. Kolodner

Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas
Hum. Mol. Genet. 1995 4: 2065-2072; doi:10.1093/hmg/4.11.2065 [Abstract] [PDF] [Request Permissions]  

Deborah L. Nagle, Christine A. Kozak, Hiroyuki Mano, Verne M. Chapman, and Maja Bucan

Physical mapping of the Tec and Gabrb1 loci reveals that the W^sh mutation on mouse chromosome 5 is associated with an inversion
Hum. Mol. Genet. 1995 4: 2073-2079; doi:10.1093/hmg/4.11.2073 [Abstract] [PDF] [Request Permissions]  

Ines Santisteban, Francisco X. Arredondo-Vega, Susan Kelly, Michael Loubser, Naftaly Meydan, Chaim Roifman, P.Lynne Howell, Thomas Bowen, Kenneth I. Weinberg, Marlis L. Schroeder, and Michael S. Hershfield

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
Hum. Mol. Genet. 1995 4: 2081-2087; doi:10.1093/hmg/4.11.2081 [Abstract] [PDF] [Request Permissions]  

Isabella Ceccherini, An Ling Zhang, Ivana Matera, Gouchen Yang, Marcella Devoto, Giovanni Romeo, and Daniel T. Cass

Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat
Hum. Mol. Genet. 1995 4: 2089-2096; doi:10.1093/hmg/4.11.2089 [Abstract] [PDF] [Request Permissions]  

Panagiotis Prinos, Teresa Costa, Annemarie Sommer, Michael W. Kilpatrick, and Petros Tsipouras

A common FGFR3 gene mutation in hypochondroplasia
Hum. Mol. Genet. 1995 4: 2097-2101; doi:10.1093/hmg/4.11.2097 [Abstract] [PDF] [Request Permissions]  

H.J.M. Smeets, A.P.T. Smits, C.E. Verheij, J.P.G. Theelen, R. Willemsen, I.van de Burgt, A.T. Hoogeveen, J.C. Oosterwijk, and B.A. Oostra

Normal phenotype in two brothers with a full FMR1 mutation
Hum. Mol. Genet. 1995 4: 2103-2108; doi:10.1093/hmg/4.11.2103 [Abstract] [PDF] [Request Permissions]  

Meng Kian Tee, Gbologade O. Babalola, Pedro Aza-Blanc, Mart Speek, Stephen E. Gitelman, and Walter L. Miller

A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?
Hum. Mol. Genet. 1995 4: 2109-2116; doi:10.1093/hmg/4.11.2109 [Abstract] [PDF] [Request Permissions]  

James Camakaris, Michael J. Petris, Leanne Bailey, Peiyan Shen, Paul Lockhart, Thomas W. Glover, Christine L. Barcroft, Janet Patton, and Julian F.B. Mercer

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux
Hum. Mol. Genet. 1995 4: 2117-2123; doi:10.1093/hmg/4.11.2117 [Abstract] [PDF] [Request Permissions]  

Xi-Ming Sun, Clare Neuwirth, David P. Wade, Brian L. Knight, and Anne K. Soutar

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)
Hum. Mol. Genet. 1995 4: 2125-2129; doi:10.1093/hmg/4.11.2125 [Abstract] [PDF] [Request Permissions]  

Mayada Tassabehji, Valerie E. Newton, Xue-Zhong Liu, Angela Brady, Dian Donnai, Malgorzata Krajewska-Walasek, Victoria Murday, Andrew Norman, Ewa Obersztyn, William Reardon, John C. Rice, Richard Trembath, Peter Wieacker, Margo Whiteford, Robin Winter, and Andrew P. Read

The mutational spectrum in Waardenburg syndrome
Hum. Mol. Genet. 1995 4: 2131-2137; doi:10.1093/hmg/4.11.2131 [Abstract] [PDF] [Request Permissions]  

Frances M. Richards, Stewart J. Payne, Berton Zbar, Nabeel A. Affara, Malcolm A. Ferguson-Smith, and Eamonn R. Maher

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene
Hum. Mol. Genet. 1995 4: 2139-2143; doi:10.1093/hmg/4.11.2139 [Abstract] [PDF] [Request Permissions]  

Yvette J.M.de Kok, Gerard F.M. Merkx, Silvère M. van der Maarel, Irene Huber, Susan Malcolm, Hans-Hilger Ropers, and Frans P.M. Cremers

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene
Hum. Mol. Genet. 1995 4: 2145-2150; doi:10.1093/hmg/4.11.2145 [Abstract] [PDF] [Request Permissions]  

LINKAGE REPORTS:

Alessandra Rampazzo, Andrea Nava, Paul Erne, Marc Eberhard, Elisa Vian, Paola Slomp, Natascia Tiso, Gastano Thiene, and Gian Antonio Danieli

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43
Hum. Mol. Genet. 1995 4: 2151-2154; doi:10.1093/hmg/4.11.2151 [Abstract] [PDF] [Request Permissions]  

Arno Fuchshuber, Genevievè Jean, Olivler Gribouval, Marie-Claire Gubler, Michel Broyer, Jacques S. Beckmann, Patrick Niaudet, and Corinne Antignac

Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
Hum. Mol. Genet. 1995 4: 2155-2158; doi:10.1093/hmg/4.11.2155 [Abstract] [PDF] [Request Permissions]  

Guy Van Camp, Paul Coucke, Wendy Balemans, Désirée Van Velzen, Caroline Van de Bilt, Lut Van Laer, Richard J.H. Smith, Kunihiro Fukushima, George W. Padberg, Rune R. Frants, Paul Van de Heyning, Shelley D. Smith, Egbert H. Huizing, and Patrick J. Willems

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15
Hum. Mol. Genet. 1995 4: 2159-2163; doi:10.1093/hmg/4.11.2159 [Abstract] [PDF] [Request Permissions]  

Mark E. Nunes, Gregory Schutt, Raj P. Kapur, Frederick Luthardt, Mary Kukolich, Peter Byers, and James P. Evans

A second autosomal split hand/split foot locus maps to chromosome 10q24–q25
Hum. Mol. Genet. 1995 4: 2165-2170; doi:10.1093/hmg/4.11.2165 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Giacomo P. Comi, Emma Ciafaloni, H.A.Rohan de Silva, Alessandro Prelle, Alessandra Bardoni, Catia Rigoletto, Micaela Robotti, Nereo Bresolin, Maurizio Moggio, Francesco Fortunato, Patrizia Ciscato, Anna Turconi, Allen D. Rose, and Guglielmo Scarlato

A G⁺¹A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient
Hum. Mol. Genet. 1995 4: 2171-2174; doi:10.1093/hmg/4.11.2171 [PDF] [Request Permissions]  

Patricia L. Tavormina, David L. Rimoin, Daniel H. Cohn, Ya-Zhen Zhu, Rita Shiang, and John J. Wasmuth

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
Hum. Mol. Genet. 1995 4: 2175-2177; doi:10.1093/hmg/4.11.2175 [PDF] [Request Permissions]  

Paula Strasberg, H.Alexander Liede, Tristana Stein, Irene Warren, Joanne Sutherland, and Peter N. Ray

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
Hum. Mol. Genet. 1995 4: 2179-2180; doi:10.1093/hmg/4.11.2179 [PDF] [Request Permissions]  

Steve S. Sommer, Antje Knöll, Cheryl R. Greenberg, and Rhett P. Ketterling

Germline mosaicism in a female who seemed to be a carrier by sequence analysis
Hum. Mol. Genet. 1995 4: 2181-2182; doi:10.1093/hmg/4.11.2181 [PDF] [Request Permissions]  

Phaikasame Sanyanusin, Leslie A. McNoe, Michael J. Sullivan, R.Grey Weaver, and Michael R. Eccles

Mutation of PAX2 in two siblings with renal–coloboma syndrome
Hum. Mol. Genet. 1995 4: 2183-2184; doi:10.1093/hmg/4.11.2183 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1995 4: 2185; doi:10.1093/hmg/4.11.2185 [PDF] [Request Permissions]  

Corrigendum:

Patricia Tsang, Frederic Gilles, Luwa Yuan, Yu-Hung Kuo, Floria Lupu, Ghassan Samara, Josh Moosikasuwan, Andre Goy, Andrew D. Zelenetz, Licia Selleri, and Benjamin Tycko

A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues
Hum. Mol. Genet. 1995 4: 2187-2188; doi:10.1093/hmg/4.11.2187 [Abstract] [PDF] [Request Permissions]  

ERRATUM:

Benjamin Glaser, Ken C. Chiu, Li Liu, Roberto Anker, Ann Nestorowicz, Nancy J. Cox, Heddy Landau, Nurit Kaiser, Paul S. Thornton, Charles A. Stanley, Erol Cerasi, Lester Baker, Helen Donis-Keller, and M.Alan Permutt

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
Hum. Mol. Genet. 1995 4: 2187-2188; doi:10.1093/hmg/4.11.2187-a [PDF] [Request Permissions]  

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